Brynlee's Battle with SMA

Where do I begin?

2012-01-17T13:54:00.000-08:00

Well, here I am. Its been 7 months 11 days since my baby passed away. Unless you have lost a child there are no words to explain the loss I feel everyday. So much has happened since she died. So much going on in our lives....without her. Everyday when I wake up I wait to hear her say, "mommy I waked up," then I remember she's gone. It hurts, like you wouldn't believe. She was so full of life and energy and happiness, that its still hard to believe she was gone in the blink of an eye. I still haven't dreamed of her. I think its my way of coping. I just don't think I'm ready to see her in my dreams.
A couple days after she died her nurse called me. She said that the autopsy revealed that her lung was so collapsed that they couldn't even force it open. They said no matter what she would have died soon anyway. Even hearing that I still blame myself. I know that I shouldn't but I still do. I go over that day all the time and it still hurts. I miss her terribly.

I don't know what we would do without Nakota. She makes our days better. Its so bittersweet to see that my girls like the exact same movies and shows even though they didn't get to know each other. Brynlee would love outrageous Nakota! Nakota calls her Brymwee. For awhile after she passed away, Kota would point to Brynlee's picture and then at the ground as if to say where is she? I think Brynlee waited for us to have a baby to keep us occupied. She knew I would fall apart if I didn't have another child to love. She never wanted anything to hurt me....and it still hurts like hell.

Brynlee's Obituary

2011-06-09T10:28:00.000-07:00

Brynlee Belle Liston

"Our Little Princess"
August 29, 2007 ~ June 06, 2011
Brynlee Belle Liston passed away peacefully surrounded by her loving parents and aunt on June 06, 2011.

Brynlee was born on August 29, 2007. At 5 months old she was diagnosed with Spinal Muscular Atrophy and her valiant fight began. Though her time here was short, Brynlee forever changed the life of anyone she met. Her intelligent eyes and sweet smile would melt the hearts of those around her.

Although Brynlee's illness made her appear frail, she possessed an incredible strength of will, perseverance, and the ability to overcome incredible odds and challenges.

Some of her favorite things were playing with her baby sister Nakota, watching Spongebob with her Daddy, snuggling for hours with her Mama, and of course Cinderella. She recently got to have her first sleepover with her Aunt Tasha and her cousin Mia and she had the best time ever doing the things that other little girls get to do.

With Brynlee's passing, we are reminded that her life is one to be celebrated. The simple joys that she took in every moment and the laughter that she met life with are lessons that we can all thank her for. Although she will be missed each and every day, we will forever hold her in our hearts and remember the pleasures she found in life around her.

Brynlee leaves behind many amazing caregivers. Her wonderful pediatrician Dr. Tanya Jackson, her loving and very special Nurse Robyn, so many home care therapists and caring staff at Primary Children's Hospital, all treated her with an amazing respect, love and support that greatly enhanced her quality of life.

There is a special place in our hearts for Dr. Kathy Swoboda; because of her continued dedication, love and support Brynlee was able to beat some of her toughest medical challenges. Although a cure was not to be found in time for our Angel, we know that through the dedication of the medical community a cure for Spinal Muscular Atrophy will be found.

Brynlee is lovingly survived by her parents, Mark and Tara Liston, her baby sister Nakota, her grandparents, aunts and uncles, and her cousins. A private memorial celebration will be held for close friends and family.

Intubated again!

2011-01-15T22:19:00.000-08:00

Brynlee woke up this morning not doing well at all. We called 911 and took her to primary's. I stayed home so I could feed Nakota before we got up there. I thought she would be intubated by the time I got up there but when i got there she was doing much better. They did a chest x-Ray and saw that she has pneumonia in her right lung. They started antibiotics and sent us up too picu. We decided Mark would stay the night with her because Kota has to nurse and doesn't take a bottle and they won't let her in the picu. So I headed home to get marks overnight things and to feed Nakota. While I was feeding her, Mark called and said that when I left Brynlee started working really hard to breath and that they were going to intubate her. They called the special doc in because she has a difficult airway. Thankfully he got it the first time this time. I headed back up there and got to see her before we got kicked out for shift change. I hate seeing her that way! It breaks my heart, she is like a totally different kid on life support. I hope and pray this is our only intubation this year! This is just sooooo hard on her.

Sooooo long!

2011-01-06T20:27:00.000-08:00

So here it is almost a year after my last post. So much has happened that I don't even know where to begin. I guess I will let the people who are not my facebook friends know that we had our baby girl. Nakota Myckell was born on July 2nd, weighing 7 pounds 11 ounces. After a little deliberation we have decided to let you all know that we used a sperm donor to get pregnant with her. They now test donors for SMA, so that is how we knew she wouldn't be affected. It is the best decision we have ever made. The reason we are telling the world this is to let SMA families know there are other alternatives. We love our little girl to pieces and there is nothing we wouldn't do for her. She is one million percent ours! We are an open book, if there are any SMA families out there who would like more info on how we got to where we are today, I would love to help.

Brynlee is doing amazing! The stuff that comes out of her mouth is hilarious. She keeps me laughing everyday. I'm not going to lie though, this three year old business is hard. She wants to do everything herself, lol! She has not made any significant change in function and her scoliosis hasn't changed in a year. We haven't had any hospital stays since April and hope to keep it that way. We just had pictures done by our friend Pete so I thought I would post them. I promise I am going to start posting more often!

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We are HOME!

2010-04-05T14:32:00.000-07:00

I am such a slacker. I just cant seem to get up the energy to get on here and post. After 15 days in the PICU with a virus that is like RSV, Brynlee and I are home!It was a long scary one this time. Thankfully she was only intubated for a few days. Brynlee has this little panic thing that she does now when someone else is doing her treatments. She even does it to me sometimes. She starts hyperventilating which closes off her throat, her sats then drop with lightning speed. The lowest O2 we saw was 30. Even though her lung was collapsing I am certain that this had a little bit to do with her intubation. They were doing a treatment on her when I had gone to lunch. Anyways her throat closes and doesn't let any air into her lungs. She starts turning blue and gets very lifeless. We have to put her Bi-pap back on, crank up the O2 and shift her neck so that she cant close it off. When she can't fight it anymore her O2 starts to climb again. They started giving her drugs for a while there during her treatments for her anxiety. She started telling all the RT's that mom was going to do her treatments.

They put a pic line in after I kept getting on them about taking so much of her blood. I can't believe how much blood they think they need everyday for stuff that is not going to change her treatments anyways. I told them that she was already on antibiotics and to stop taking so much. She is now Iron deficient, HUH, WONDER WHY?!! The Pic was great for us because it wasn't in to long and she didn't have to get anymore pokes. Her IV's kept going bad anyways. Her veins are so small.

I had a hard time this visit because it took three docs to do everything. It took 3 to intubate and 3 to place the NJ(feeding tube through her nose). Apparently my little ones anatomy is a little out of place. Her stomach had stopped working the way it was supposed to and she wasn't digesting anything which is why she needed an NJ even though she has a g-tube.

After many nights of sleeping on an uncomfortable chair while 6 and a half months pregnant we got home on Saturday. We got to have our princess home for Easter and she loved decorating her eggs. I am still doing her treatments every 4 hours during the day and every 5 at night. I am loving the fact that we got her a big ol queen size bed. Now I just sleep right next to her when she is sick and Mark comes and wakes us up when its time for her treatments.

I HATE SMA!

2010-02-02T14:29:00.000-08:00

I know I haven't been updating and I will soon I promise.

SMA took another precious baby today and I can not stop crying for this family. This is the second son they have lost to this cruel and deadly disease. Hodges will be forever remembered. Ashley we are so, so, unbelievably saddened for your loss.

http://dailylivingtodie.blogspot.com

Chase Community Giving on Facebook

2010-01-14T15:52:00.000-08:00

The Gwendolyn Strong Foundation (http://www.gwendolynstrong.com/) received a wonderful opportunity to win a $1 Million dollar grant from Chase Bank because of incredible wide ranging support, but now they need help on getting the word out there letting people know how to vote starting January 15th. And because you can only vote for GSF one time in the final round, we need to work extra hard to get beyond our networks and reach new people to vote for GSF. With your help, together we WILL see an end to this cruel disease!

So, in addition to VOTING, please commit to at least 3 things YOU will do from January 15th to January 22nd.

•VOTE: go to http://voteforsma.com/

•Email friends the voting link

•Post the voting link to your Facebook status all week long

•Blog about GSF and the $1M miracle to cure SMA

•Twitter the voting link

•BE ANNOYING (we mean persistent:) ALL WEEK LONG! In addition, here are some of the creative plans brewing by our supporters. Will you go the extra mile by doing one of these, too?

•Flyer ---> Download, print, and pass out our campaign flyer. This is especially useful for large groups or people who you don't have email addresses for such as schools, churches, and businesses who you have a personal relationship with. Click here to download the flyer.

•Make it Easy ---> Have your home or work computer open to the voting page - http://voteforsma.com/ - and tell every person you see to vote. Each person has to log in, but that's it. Simple and brilliant! People are setting up a voting station at local places in the community. Could you set up a voting station at your work or somewhere in your community?

•Contact Groups + Organizations ---> People have asked the organizers of groups they belong to to get involved by emailing a personal plea with the link - http://voteforsma.com/ - to sorority lists, mom's clubs, company lists, book clubs, alumna and professional organizations, etc. potentially reaching thousands of members! Do you belong to a group who would send an email to its members???

•Direct Message Facebook Friends ---> Since this is on Facebook, a direct message with a personal plea to all of your FB friends goes a long way. So in addition to posting it on your status, send an email to every Facebook friend. In fact, on http://voteforsma.com/ there is a button that reads "Invite a Friend". By simply clicking this and checking the boxes, you can message your FB friends to vote for GSF. Will you take this extra step?

•Contact BIG bloggers ---> Several people have or are planning to contact bloggers with a large following they think would be a good fit. Imagine if hundreds of people blogged about GSF and posted the video! Do you know any bloggers you can ask to help?

•Get Students Involved ---> One teacher incorporated GSF into her lesson on "grassroots" and posted the voting link - http://voteforsma.com/ - on the board for her students to write down and visit at home. They are excited about making a difference. Come Jan. 15, I smell a homework assignment :) Do you know any high school or college students willing to campaign for us on Facebook?

Please vote for The Gwendolyn Strong Foundation sometime between January 15-22. We NEED your help.

THANK YOU SO VERY, VERY MUCH!

2010-01-06T13:43:00.000-08:00

For Christmas Brynlee got a Doll house and a Ball pit. I am loving the pretend play. She loves playing dolls with dad more than mom though, lol!

2010-01-06T13:40:00.000-08:00

2010-01-06T13:36:00.000-08:00

2010-01-06T13:22:00.000-08:00

2010-01-06T13:14:00.000-08:00

2010-01-06T13:10:00.000-08:00

2010-01-06T13:04:00.000-08:00

Halloween was a great day for us. She had just gotten over the flu, we found out we were pregnant a couple days before that and she started sitting all by herself!

2010-01-06T12:55:00.000-08:00

Ok so ya all know that I don't put pictures up until I download them all on my computer. Here goes the last 3 to 4 months of them, enjoy!

Brynlee got a massage from her Grandma Lisa, it was so cute, she loved it!

Brynlee spinning cookies in her stander.

2009-12-20T15:32:00.001-08:00

SOOOOO Exciting!!!!!

2009-12-06T14:30:00.000-08:00

So Dr. Swoboda saw the videos of Brynlee sitting up and has re diagnosed her as a weak type 2. We are so so so excited and feel so very blessed right now! Even though it doesn't really change anything as far as how immune compromised she is, this possibly means that we get quite a few more years with our angel. It is like winning the lottery for us. We now have the chance to make it to a better treatment or cure, then again we just never know. My daughter died on me just a couple of months ago, then to hear this news absolutely blew me away! Keep your heads up all my fellow SMA families, there is hope!

Oh and P.S. I am going to put more pictures up soon, I promise.

New Videos!

2009-11-29T10:33:00.000-08:00

These new videos are super amazing. You all remember me posting about losing hope when they told us she lost half of her strength right? Well this was about 3 weeks or so after that. I tell you what, my little girl is one hell of a fighter! Just when everything is going downhill she goes and shocks the shoes off of us! Brynlee we are so proud of you!

In other news, I anounced this on facebook so just about everyone should know by now. I will post here though in case we missed anyone. Brynlee is going to be a big sister! We are due around the first of July with an SMA free baby. The baby is already measuring big so I'm thinking with how big Brynlee was at birth they will end up inducing me again. So we will probably end up having a June baby.

So much going on the past couple months, sorry I haven't updated more!

MOV02C.MOD

2009-11-29T10:29:00.001-08:00

MOV02F.MOD

2009-11-29T10:28:00.001-08:00

2009-11-06T15:21:00.000-08:00

I got this from the Strong's and thought I would let anyone know who hasn't read it. This is good stuff people! We are moving in the right direction. They are really thinking that there is a link here and it would be great for parents to be prepared in the case of SMA. In the future I hope that all pregnant women are given an ultrasound around around 10 weeks. You just never know that this runs in your family until it pops up!

Subject: SMA Research Needs SMA Moms

There is a new study that may help pave the way for SMA carrier screening to be offered to more women. Please help this study by calling Dr. Zadeh -- (650)721-1439. There is no blood work needed. There is no cost to you. Dr. Zadeh simply needs access to your medical records -- specifically the neck measurement of the fetus done around 10 weeks. Any mother who has or had a child with SMA can be part of this study.

From: Neda Zadeh, M.D. --

You are invited to participate in a research study on the possible association between Nuchal Translucency (NT) measurement and fetuses affected with Spinal Muscular Atrophy (SMA). Our goal is to determine whether there is an association between increased NT measurements and SMA. If so, diagnostic testing for SMA may be offered to women with increased NT and no evidence of a chromosome abnormality of the fetus. We are only recruiting mothers of children confirmed to have SMA by molecular testing.

Involvement in this study is entirely voluntary and confidential. It will require your permission to access particular medical records for both you and your child. Your participation will not involve invasive procedures such as blood draw or tissue sampling. There will be no monetary compensation for your participation.

If you are interested in participating, or would like to hear more about this study, please contact me at (650)721-1439.

Sincerely

Neda Zadeh, M.D.
Medical Genetics Fellow
Stanford University
Division of Medical Genetics
--------------------

2009-10-29T08:16:00.000-07:00

Brynlee is still doing OK today with just the fever. Her ped. called me yesterday and said that it IS NOT THE SWINE FLU! She did test positive for influenza type a so they automatically assumed H1N1. They don't know what kind of flu this is but let me assure you infectious disease is all over it! I am so happy its not H1N1! Now I am thinking(fingers crossed) that this fever is all she is going to get. We are thinking about all of you families who are dealing with the flu right now.

Here we go!

2009-10-28T08:38:00.000-07:00

Brynlee woke up with a fever yesterday of 103.3. I had Mark bring her into the pediatrician because I was not feeling well. Our Ped, called us back last night and told us that Brynlee has the flu. We won't know for a couple of days if it is the swine flu but she is pretty sure that's what it is. We started her on Tamiflu last night and everything seems to be ok so far. Her chest x-ray looked great and she still doesn't have a cough or anything respiratory going on so far. Fingers crossed that this is the worst it gets. She still has a fever of 100.4 on Tylenol today. I am waiting for the ped to call me back to let me know what to expect.

2009-10-06T14:19:00.000-07:00

Sorry I haven't posted in a while. Brynlee has had therapy 4 times a week the past couple of weeks so we have been busy. We had Brynlee's clinical appointment today. Good news is that her Dexa scan for bone density looks great! She has improved by ten percent and the scan lady was very pleased. Breath, Ok, not so good news. She had her MUNE testing to test her strength. The last time we were there Brynlee was 7.6. Today 3.3. She has regressed so bad that I can't stop crying today. I just feel that no matter how hard we try it is never going to be enough. I am losing hope.......
On her physical therapy scores it went from 24 to 19. Being sick 3 times in a row really knocked her out. She has gained 2 pounds in the last 3 weeks(Yay)! She is now in the 90 to 95th percentile for height and less then the 5th for weight.

We are home!

2009-09-06T20:38:00.000-07:00

We made it home yesterday after only 1 day in the PICU. This was the shortest stay ever. We fought most of this one at home and had made it 5 days before going in. Brynlee gave us a couple of good scares on this one though. We camped out in our living room so we could get up every three hours to do her treatments. Needless to say we were pretty tired this week.
Thursday morning during her 6 am treatment she decided to desat. She sats made it all the way down to 30. Normal for Brynlee is 98. She started to turn a little blue but we suctioned her and got a lot of stuff out and she came back up pretty quickly. Later that day at 3:30 while I was doing a treatment she started getting angry. When she is sick she hates her treatments. Mark was at work so it was just Brynlee and I. My friend Danny was on her way over to help me out and was about 20 min away. Brynlee got mad and started desating really fast. She went from Blue to white in a matter of seconds. Her oxygen sats went clear down to 2 for about 4 min. I was trying to get her to breath and on the phone with 911, yelling at the guy to tell me how to do CPR. When stuff like that happens everything you know goes out the window. He was taking to long telling me what to do so I just grabbed her cough assist and started coughing and suctioning her. she finally opened her eyes a little a second before the cop got here. I was putting her Bi Pap back on when the paramedics got to our house. Brynlee was still just barely opening her eyes. By then her oxygen was up to about 90 with 5 liters bled in. I asked them how long what happens if someone is out that long and they said between four to six minutes, someone can become brain dead. I started freaking out. They asked me if I wanted to take her in and I said Brynlee do you want to go the the doctor thinking she wouldn't answer me. Her eyes popped open and she shook her head no.
The cop was flabbergasted and said is she responding to you? I have never been so happy in my life! My daughter rocks! Then Brynlee lifted up her hand and pointed at me and said "momma". Have I told you how much my daughter rocks yet?! They then asked me again if I wanted to take her in and I told them I wanted to do another treatment and see what she would do. They waited while I did a treatment and after I was done her sats came up. I had the cop drop her oxygen down and told them we would be ok. They left and not long after Brynlee was sating great on only 1 liter.
6 am the next morning she did the same thing. Mark was with me this time though thankfully so he made the call to 911 while I was trying to keep her going. We went through the same scenario and sent them on there way. After an hour though she wasn't coming up and she was on 5 liters. So we called them back for a ride up to primary's.
When we got to the hospital the RT did her treatment and she started to do the same thing again. He said that he thought she was doing it on purpose. We had also forgot to fill up her humidifier for about 2 days so that might have played into it also. So now we get to deal with her getting mad and doing this every time she is sick. So we are home after one day in there and she is almost over this one. Hopefully by Tuesday she will be her cheerful happy little self. I am just grateful she is still her with us. It just reminds me how fragile she really is. I don't aprecciate the reminder though and I hope Brynlee got the memo that when she does that kind of stuff she has to go to the doctor!

2009-09-05T07:30:00.000-07:00

Brynlee is back in the PICU.

More Pics

2009-09-02T16:30:00.000-07:00

I unloaded my camera again so here are some more random pics. I love the one's of Brynlee with Kristens baby Ava. Brynlee doesn't like anybody in her space unless she want's them there and she didn't want Ava there, lol!

Sick again

2009-09-02T16:26:00.000-07:00

Brynlee and I got sick again the day after her Birthday. I am happy to report that she is doing great. We started her on meds last night and they are really helping her fight this one, yay! Doc just called and said that the second viral panel came back and she tested positive for the Rhino Virus. Another common cold. At least we have a name for this one!

2009-09-02T16:02:00.000-07:00

We had a blast at the walk and roll on Brynlee's Birthday. I want to thank everybody who donated on behalf of Brynlee and sma kids everywhere. Last count we raised $790.00!!! Thats without those who registered at the event! You guys all rock!! We were so excited to see everybody. There was so much going on that I didn't get to talk to anyone for long. Thanks grandma and grandpa Adams for making the trip! To everyone else we truly love you all!
My little one is now 2 yrs old. Where has all the time gone? It seems like just yesterday we were bringing here home from the hospital. She was the absolute best baby any mother could ever ask for. Then at five months old we got the news that would change our lives forever. SMA, our daughter would probably not live to her second Birthday and most likely not even her first. So with tears in my eyes I write about how blessed we truly are. That we have gotten 2 amazing years with our spunky little angel. Two years I never thought we would get. With one little smile she turned our world completely upside down, and I wouldn't have it any other way. We love you so much Princess, Here's to another great year!

2009-08-24T12:15:00.000-07:00

We went to our friend Pete's house yesterday and got our family pictures done since Brynlee is almost 2 yrs old now. Pete is a professional photographer and does a ton of weddings. He was also Marks best man at our wedding. We love you Pete and thanks for taking our pics again, you ROCK!!!! Here are just a couple. You can also check out his website at www.pmphotoart.com.

Update

2009-08-13T08:45:00.000-07:00

Brynlee sats are finally around 94 this morning with no bi-pap. This makes me so happy. This means that she is starting to kick this colds butt!

We have been asked to speak at a charity function for our homecare company. They want me to talk about Brynlee and her new chair and how much it means to her. I beleive they will be helping families that don't have insurance get wheels for their kiddo's. I'm kinda nervous because I don't do so good speaking in front of an audience. They are thinking they will be about 100 people there, yikes! Wish me luck and I hope that we can inspire them so that other kids can get some independance to.

We are also having the first Utah SMA walk and Roll on Brynlee's Birthday. It is the 29th of August in Park City. We have decided that she has more than enough toys. For her birthday we would like to have anyone who wants to help find a cure for SMA to sign up for the walk and roll on Brynlee's team. You can still register if you are not going to be able to make it, just click on that button while registering. The link to the site is http://www.utahsma.showitsite.com/. Please, please, help us out in finding a treatment and more importantly a cure. We are so, so close!

Join the Fight to END SMA! PetitionToCureSMA.com

2009-08-02T18:12:00.001-07:00

YIPPY!

2009-07-26T19:50:00.000-07:00

We might get to go home tomorrow, Yay!

2009-07-21T21:21:00.000-07:00

We finally got Brynlee's wheels the day before we had to go into the hospital. She love's it and she is so tiny in it! At the hospital today.

2009-07-21T21:06:00.000-07:00

These pics are from the fourth of July at the fireworks and her new sandbox that she loves.

Update

2009-07-21T20:41:00.000-07:00

So I left the nurse with instructions last night to call if anything happened. You know what I found out this morning? That he just didn't want to wake me up! I can see maybe not wanting to wake me up at 3 in the morning but it was 6 for hell sakes!!! Its not like 6 was going to cause me to lose a lot of sleep! Brynlee ended up desating after her treatment. They had to take her oxygen from 1 liter back to 4 and up her bipap settings. They are scaring the dickens out of her when they do her cough assists, which causes her to desat. If she has another night like last night tonight, I am going to demand that they find me a room! This is rediculous! During the day when I am there she does great which is because I do her treatments. The RT's dont know how to do a cough assist without pushing her face through the bed, Thats how hard they push! I'm totally serious about this, are you with me other SMA moms? I promise they can get a good seal without making her head fall off, ya know? So by the time I left her bipap settings were down to normal and her oxygen was at 3 which was fine with me because they will probably end up going up on her oxygen again since they don't know how to calm down a freaked out little girl! I will tell you why I know that she is just scared of them all. Brynlee was sating at 91% today. I took off her mask to wash her face and her oxygen went up to 100 and 99. It was crazy. When I put the mask back on she went down to 92% and hung out there. But the minute an RT is around and we take the mask off she drops. I wish that I could just do her treatments myself with no RT around. Anyways there is my fun little rant about the PICU. We will see what day 6 brings us. Thanks for all the well wishes everybody, we sure are using them about now!

Day 5

2009-07-21T07:22:00.000-07:00

Brynlee is doing much better than she was the first couple of days. She is almost down to 1 liter of oxygen and as of last night she is down to her home bipap settings. She is still very tired and doesn't want to play which is when I know she still isn't doing that great. I wish we could have done this at home but our oxygen concentrator only goes to 2 liters. She was on ten the first couple of days. Its times like these though that make me extremely grateful that we live so close to primary's.

Well here we are again

2009-07-17T18:59:00.000-07:00

Brynlee is in the PICU again at primary's. We got there this morning and I think we are going to be there at least 5 days. She is a very sick little girl right now. She thankfully didn't have to be intubated because we got there fast enough. She was on 10 liters of oxygen all day and she is finally down to 8 liters. She is so tired and doesn't even want to move or play. She has just been sleeping. They are going to cough assist every 3 hours and CPT every 6. This is gonna be one hell of a cold....I wish it was me instead of her. I hate seeing her struggling to breath and cough.

Crazy Week

2009-07-05T12:50:00.000-07:00

I hope everybody had a great fourth! We took Brynlee to the fireworks. She loved all of the people. All she kept doing the whole time was saying hi, hi, hi, and waving. We went with our friend Dave and it was so cute because she just wanted Dave to hold her. She is also into making everybody laugh. She is such a little ham it cracks me up. So anyway that was our 4th of July.

The beginning of our week was hell for me. A couple of weeks ago Brynlee got a bunch of little broken blood vessels on her right leg. The next week they were on her other leg as well. So Friday I stopped the Albuterol and decided I would call her Ped on Monday. So Monday rolls around and I called Dr. Jackson's office. They were really busy that day so she wanted us to come in first thing Tue. morning. She also just thought it was a bruise of some kind. So we went in Tue. morning. She asked me a bunch of questions like if we have had her in her stander more than normal or if her routine had changed at all. I told her no to all these questions and then she asked to see her legs. When she saw her legs she said that it was a good thing I brought her in because this wasn't what she was envisioning over the phone. She said they were definitely broken blood vessels and that it might be some kind of auto-immune disease. We went and got blood work taken and went home to wait out the results. When they took her blood though the tourniquet broke a bunch of the blood vessels down her right arm. Meanwhile I was freaking out thinking she cant handle another disease. They finally called that night to say that some of her labs were on the low side but nothing to worry about. Her iron is finally coming up to so I was excited about that.
So the next morning I get a call from Dr. Jackson saying that she had also sent of some other labs and she had just gotten the results back. She said that they were very concerning and that Brynlee could be bleeding internally. She wanted me to take Brynlee to the ER at primary's immediately. I asked her if we were probably going to be there for a couple days and she said yes this is serious. They were thinking that the VPA might be causing a problem.
So I Packed Brynlee up and went to primarys. All I was thinking was the drug that is making her better is killing her!
We got in there and they said that the broken blood vessels were called pitikei(SP). They usually see it with sepsis. So they took more blood work and her labs looked a lot better. Dr. Swoboda and Abby came in to talk to us( We sure do love those guy). We decided that since her labs were better that we wouldn't take her off of the VPA. We are also thinking that it could just be some kind of Virus? I don't know but if her vessels keep breaking then we are going to take her off of the VPA. This whole thing just makes me sad, because Brynlee has been one of the great responders to this medication. So anyways we will see what next week brings.

Kristen had her baby this morning?

2009-06-21T15:41:00.000-07:00

Yay, after what seems like forever, Kristen had her baby. She called me at 5:45 am and said she was on her way in. So after I made an extra trip to the wrong hospital, I finally made it to the right one. She went really super fast, it was awesome. Ava Blair was born at 11:47 on fathers day. She weighed in at a whopping 6 pounds 10 ounces and is 19 inches long. I would post pics but I left my camera for them. She is absolutly adorable and so freaking tiny. Congratulation Kristen and Landon, hows that for your first fathers day? LOL.

Happy Fathers day my sweet, husband. Brynlee and I couldn't do it without you. You are the best dad ever! We love you more than you will ever know.

Just life happening here.

2009-06-14T15:29:00.000-07:00

I thought I should probably get on and say something. Think Tara, think. Um what have we been up to besides dealing with all this rain? Melodie, I have no idea how you live with so much rain! Anywho, we thought we were going to get Brynlee's hot wheels but found out they didn't end up ordering it until the second. Oh well she wouldn't have been able to drive in the rain anyways. Hopefully we get it the end of this week or the beginning of next week.
We have been trying to shovel vitamins down Brynlee's tube for the past couple of weeks. Its not working out so well. She keeps throwing them up. This is just the multi-vit. She is fine with the Vit D, Iron, and calcium. She is also waking up coughing every morning to the point of her sats dropping into the 80's. I get up and do a treatment and put her back to bed. I forgot what it was like to wake up at 7 am, it sucks. We made a trip into the docs office and had an x-ray to make sure everything was fine. Her lungs looked great, they are definitely taking on the bell shape now, though. So I will just wait and see what happens. I hope this isn't the new norm.
I decided that it was time for me to lose some weight to. So my sister and I started doing weight watchers points. I'm down 12 pounds in 5 weeks, yay! Only 16 more pounds to go. Now I am just waiting for Kristen to have her baby Ava. She is due on the 23rd. I keep asking her if we can make a practice run, but I don't think she is going for it, lol. I love new babies, they are so damn cuddly. So come on Ava its time to cut the cord already!

Some more pictures

2009-05-20T11:05:00.000-07:00

Kristens Baby shower.

Ok, I only download pictures onto my computer every once in a while. So today was the day. The first ones are from therapy and then she is with her cousin, Mia who is 6. Yes I said 6 and my little one is almost as tall as her!

Yippee

2009-05-20T10:38:00.000-07:00

The wheelchair shop called me yesterday and said our chair was approved. Three more weeks and its ours to take home!!!!! I am so excited. Brynlee is going to love, love, love, her chair. They said that the woman that was supposed to approve our chair was saying that Brynlee didn't need that chair and all that comes with it. The chair cost 30,000 and she didn't want to pay that much. She brought it to the insurance's pediatrician and he told her he was going over her head. That he was approving it because we needed everything on it. Yay, whoever this man is, God Bless You!!!!

Thoughts of a mom

2009-05-14T11:32:00.000-07:00

I got this off of SMA space and thought it was so cute, I just had to put it on here!Thoughts of a Mom:
Many of you I have never even met face to face, but I've searched you
out every day.
I've looked for you on the Internet, on playgrounds and in grocery
stores.
I've become an expert at identifying you.
You are well worn.
You are stronger than you ever wanted to be.
Your words ring experience, experience you culled with your very heart
and soul.
You are compassionate beyond the expectations of this world.
You are my "sisters."
Yes, you and I, my friend, are sisters in a sorority.
A very elite sorority.
We are special.
Just like any other sorority, we were chosen to be members.
Some of us were invited to join immediately, some not for months or even
years.
Some of us even tried to refuse membership, but to no avail.
We were initiated in neurologist's offices and NICU units, in
obstetrician's offices, in emergency rooms and during ultrasounds.
We were initiated with somber telephone calls, consultations,
evaluations, blood tests, x-rays, MRI films and heart surgeries.
All of us have one thing in common.
One day things were fine.
We were pregnant or we had just given birth or we were nursing our
newborn or we were playing with our toddler.
Yes, one minute everything was fine.
Then, whether it happened in an instant, as it often does, or over the
course of a few weeks or months, our entire lives changed.
Something wasn't quite right.
Then we found ourselves mothers of children with special needs.
We are united, we sisters, regardless of the diversity of our children's
special needs.
Some of our children undergo chemotherapy.
Some need respirators and ventilators.
Some are unable to talk, some are unable to walk.
Some eat through feeding tubes.
Some live in a different world.
We do not discriminate against those mothers whose children's needs are
not as "special" as our child's.
We have mutual respect and empathy for all the women who walk in our
shoes.
We are knowledgeable.
We have educated ourselves with whatever materials we could find.
We know "the" specialists in the field.
We know "the" neurologists, "the" hospitals, "the" wonder drugs, "the"
treatments.
We know "the" tests that need to be done, we know "the" degenerative and
progressive diseases and we hold our breath while our children are
tested for them.
Without formal education, we could become board certified in neurology,
endocrinology, and psychiatry.
We have taken on our insurance companies and school boards to get what
our children need to survive and to flourish.
We have prevailed upon the State to include augmentative communication
devices in special education classes and mainstream schools for our
children with cerebral palsy.
We have labored to prove to insurance companies the medical necessity of
gait trainers and other adaptive equipment for our children with spinal
cord defects.
We have sued municipalities to have our children properly classified so
they could receive education and evaluation commensurate with their
diagnosis.
We have learned to deal with the rest of the world, even if that means
walking away from it.
We have tolerated scorn in supermarkets during "tantrums" and gritted
our teeth while discipline was advocated by the person behind us on
line. We have tolerated inane suggestions and home remedies from
well-meaning strangers.
We have tolerated mothers of children without special needs complaining
about chicken pox and ear infections.
We have learned that many of our closest friends can't understand what
it's like to be in our sorority and don't even want to try.
We have our own personal copies of Emily Perl Kingsley's "A Trip To
Holland" and Erma Bombeck's "The Special Mother."
We keep them by our bedside and read and reread them during our toughest
hours.
We have coped with holidays.
We have found ways to get our physically handicapped children to the
neighbors' front doors on Halloween and we have found ways to help our
deaf children form the words, "trick or treat."
We have accepted that our children with sensory dysfunction will never
wear velvet or lace on Christmas.
We have painted a canvas of lights and a blazing Yule log with our words
for our blind children.
We have pureed turkey on Thanksgiving.
We have bought white chocolate bunnies for Easter.
And all the while, we have tried to create a festive atmosphere for the
rest of our family.
We've gotten up every morning since our journey began wondering how we'd
make it through another day and gone to bed every evening not sure how
we did it.
We've mourned the fact that we never got to relax and sip red wine in
Italy.
We've mourned the fact that our trip to Holland has required much more
baggage than we ever imagined when we first visited the travel agent.
And we've mourned because we left for the airport without most of the
things we needed for the trip.
But we, sisters, we keep the faith always.
We never stop believing.
Our love for our special children and our belief in all that they will
achieve in life knows no bounds.
We dream of them scoring touchdowns and extra points and home runs.
We visualize them running sprints and marathons.
We dream of them planting vegetable seeds, riding horses and chopping
down trees.
We hear their angelic voices singing Christmas carols.
We see their palettes smeared with watercolors, and their fingers flying
over ivory keys in a concert hall.
We are amazed at the grace of their pirouettes.
We never, never stop believing in all they will accomplish as they pass
through this world.
But in the meantime, my sisters, the most important thing we do, is hold
tight to their little hands as together, we special mothers and our
special children, reach for the stars.
By Maureen K. Higgins

Up to a lot!

2009-05-13T18:58:00.000-07:00

Ok so I haven't posted in a while, we have been pretty busy. I will start with Mothers day. Mark got me a very lovely present and I was kinda shocked! Mark and I don't really do holidays, so it really, really surprised me.

I got a 4.0 in my math class thank goodness and I'm super glad its over.

We went up to Park City for the SMA meet and greet on Saturday. We got to meet some other SMA families and it was great. Its nice to meet people who are in the same situation that we can totally relate to. Brynlee got to meet Riley, and she was giggling and talking to him. It was so cute! I forgot to take my camera because we were on the fence about going and decided to go at the last minute. We are going to be doing a Walk And Roll in the summer, so I hope all ya-all who live here will be able to make it. Brynlee will hopefully have her wheels then. I am so excited Utah can finally help contribute to SMA research.

Ok so yesterday we had Brynlee's clinic appointment to find out how she is doing. We had Physical Therapy first and it was great. They do this thing where they put their legs in the air and drop them to see if they catch them. Brynlee's have always fallen to the frog position immediately. For the first time her feet hit the ground and she kept them there!!!! It was awesome and I wanted to start crying. She is still learning to do new things and a year ago I never would have thought this was possible, She knocks the breath right out of me sometimes. So when we were done with PT we had her MUNE test. They put these little electrode things on her hands and then shock her to see whats going on. Brynlee is around the same as the first time we went in right after she was diagnosed, this is fabulous because she was still kinda stronger when we went in the first time. In the middle of the year she got a little weaker and now she is back to what she was. Another reason this is so great is that usually after an intubation they can lose a lot of ground. We then did her blood draw and sent them to the lab.
We got to skip the dexa scan this time thankfully because it is clear on the other hospital. Soooo we went and got x-rays of her scoliosis and her arm because they were thinking it was broken or fractured. She has been guarding her right arm for a very long time now. We are going to start her on liquid albuterol and see if that helps boost up her strength anymore.
Brynlee's lungs have lost about an inch and a half which means that we now have to get another sleep study done, so we can calibrate her Bi-pap. YUCK, we don't like sleep studies!

Today- No broken bones or fractures, YAY! So we are going to get more aggressive with Therapy and work the kinks out and see if we can get it moving more. Abby(Dr. Swoboda's wonderful nurse) called and said that she has Osteopinia(the beginning of Osteoporosis), we have got to start giving her a calcium supplement. She also said that her hemocrat and hemoglobin was low and has been for a very long time. They suspect that she has Anemia of chronic disease. We had to go back and get blood drawn again today so they can make sure that's what is going on. This was hard for me to hear because now we are probably going to have to have a nurse come out once a week and give her a shot and take blood. I wish so so so so badly that I could take it for her. I hate her having to get shots or blood drawn. We will see what happens with the labs(fingers crossed).

I got a call from our home health today saying that our DME was maxed out. We don't have a max DME, I told him. He said yes you do it went into effect the beginning of this year. I freaked out and called our insurance, I was so pissed off and thinking there is no way we can pay 30k for a wheelchair, what the hell are we going to do?!!! I talked to our Case Manager and she said that they changed the policy on everybody. She said that our Wheelchair didn't count as DME and we would still get it. That our oxygen supplies are all covered and most of the other stuff we have is covered. She doesn't know about the cough assist yet but she is going to find out and let me know. We finally own most of our equipment now so I'm hoping we don't need to much more this year. Anyways its just been an emotional couple of days and I am happy for them to be over.

Schools out for the summer!

2009-05-05T12:44:00.000-07:00

Yay and the title says it all. I finished my online math class and I am so glad its over! I took my final on Monday and don't find out until Friday how I did. I am hoping that I have an A over all grade but we will see. I will keep you all updated, lol. Mark is happy to have me back although he doesn't want me to take another one in the fall. He says it intrudes with his Tara time( I love the snickers out of that man). Marks work is going great and he is staying busy. I am so proud of him. He has wanted his own business since I started dating him almost 6 and a half(gasp) years ago.

I am really excited about Brynlee's doctor appointment next week, I can't wait to see her progress. Anywho we are off to see Grandma Kordy.

Brynlee sitting

2009-04-30T12:33:00.001-07:00

Swine flu

2009-04-30T11:54:00.000-07:00

It's here, welcome to Utah Swine flu. We are officially on lock down. The schools in park city are all closed. Those who don't know park city is about 40 min away from my home. They think they have a case here is SLC to. This is just retarded. It was finally our turn to get out of the house. I am pretty sure we couldn't handle a case of this flu, so here we are at home being quite bored.
Brynlee learned a new trick the other day. She sat in my lap unsupported for more than 3 min. We are so excited about this. She has been on her meds for over a year now and she is starting to get stronger! She can't sit completely on her own on the floor yet but I'm hoping we get there(she will). We got this on camera so now I just have to remember how to put it on the computer. When I figure it out I will put up the video. To all of our SMA families in Utah, be careful!

SMA Conference

2009-04-27T15:24:00.000-07:00

Wow, I just watched part of the SMA Conference and they have found that the carrier status is actually closer to 1 in 30 people than the more than 1 in 40 that was originally thought. Can you believe that? That is insane!! 1 in 30 is nothing!

New Hot Wheels.

2009-04-24T09:39:00.000-07:00

We had a great day yesterday. We went into the wheelchair shop to get Brynlee evaluated for a power chair. She did Awesome! Well the beginning was a little crazy. The minute they put her in the chair she started crying her little eyes out. I think they scared the chickens out of her. She got mad at me for not taking her out and wouldn't look at me for about five minutes, holy red headed attitude! Once she was going though, she was a champ. She was going in circles and up and down the parking lot. When we were done they said that she probably could have been in one a long time ago. I wish we would have started this process a couple months ago so she could have it already. It is going to be three months before we get it. I am happy that we will get it about a month before her 2nd Birthday.

We are getting the Permobil K450mx. It Rocks! Brynlee is getting the hot pink one. She is going to love it. I can't wait!!!!!!!!!

More nose issues

2009-04-21T09:13:00.000-07:00

Soooo I tried the polymem again to make sure it wasn't going to work for her. We tried it for two days. By the second day her nose was swollen to the size of a quarter. I felt so bad for my little one. She is so freaking sensitive!!! So we are off to get some Vit E and cloth diapers. I am hoping that this works and I think it just might(fingers crossed). If not we are getting another mask from Canada. Thanks for the help everyone. If this works I just might hug you all, lol!!!!!! Oh yeah and spring is in the air finally. Brynlee got to go outside most of the day yesterday and she was loving it!

Her nose

2009-04-15T19:02:00.000-07:00

FYI, the little owwwweee on her nose is from her bi-pap. We have tried everything, I swear! She has the most sensitive skin and is alergic to everything. Someone suggested cavilon but she is alergic to it. We have tried Dr scholls corn things and that just put to much pressure on the other area. We have tried mole skin, duaderm, techaderm and other stuff. If anyone has anymore ideas I would love to hear them??? Please?!!

Look at those legs(whistle)

2009-04-15T18:52:00.000-07:00

We got this jumper before Brynlee was diagnosed and she never really liked the toys on it, so I put it away about 5 months ago or so. I brought it out again today to see how she liked it. I put her in it and she loved it! She wouldn't let me take her out for an hour. Thats when it hit me. Look how tall my baby is?! I think her new nickname is stretch. She is as tall as little people right now and she is only 19 months!!!

Easter

2009-04-15T18:48:00.000-07:00

For Easter, Mark taped plastic eggs on string to the ceiling. Brynlee was in her stroller and just pulled them off the string. She had a lot of fun. We video taped it and I would put the video up, but it takes forever to figure out how to put the videos up. Iyiyi!

HAIR!!!!!!

2009-04-15T18:43:00.000-07:00

Brylee's hair is out of control(Like mother, like daughter). It is so freaking curly. It is super long to(past her shoulder blades), but you wouldn't know that because it is so so so CURLY, just like her papa's. AWWWWW!

More pictures of Brynlee

2009-04-15T18:38:00.000-07:00

Brynlee and I snuggling, she loves snuggles and always says hmmmmm when we hug. Makes my heart melt everytime!

Brynlee with Grandma Kordy

2009-04-15T18:33:00.000-07:00

I am so lucky I got these pictures, If anyone knows my mom, they know she will not do pics. Its absolutely impossible!

Brynlee with her Grandpa Tom

2009-04-15T18:28:00.000-07:00

Brynlee love's her Grandpa Tom. You wouldn't be able to tell from her frown, but she loves frowning, its how she makes people laugh! Man she is a little pickle.

Lets see all those teeth!

2009-04-15T18:24:00.000-07:00

Brynlee playing peek a boo on her changing table

2009-04-15T18:21:00.000-07:00

Finally put pictures up!

2009-04-15T18:13:00.000-07:00

These pictures are the day that Brynlee was discharged from the PICU, that was a great day! She was so excited to come home.

Fever

2009-04-10T20:23:00.000-07:00

I am happy to report that Brynlee's fever of 103 is history. She had it for two days and now it is gone. She has a little cough now and I am coughing the holy lasagna out of her but I think we might be in the clear now! Come on Summer, we are totally ready for ya!
P.S. Brynlee's molar is almost out and another top tooth came through. So now we have a total of 8 cute as pie, teeth.

Giving Thanks!

2009-03-15T17:09:00.000-07:00

Mark, Brynlee and I would like to give our heartfelt thanks to our friends and family for all of their much needed and greatly appreciated support!!!!

We would like to thank a couple people in particular. Grandma and Grandpa Adams, thank you for rallying together all the Adams family, and helping us with Brynlee's insurance each month when we truly needed it! We couldn't have made it though the last couple of months with out you!

Grandma and Grandpa Allen, Larry and Lona Newell and family, Tom and Debra Adams and family and everyone else who has helped with our insurance. We can not begin to tell you how much it means to us that we have such loving family. In these crazy economical times you were still able to pull together and help us out. We will be forever in your debt!! Thank you.

Aunt Shawnee and Grandma Beth. Thanks Aunt Shawnee for being my suedo mom and being there for me when I need a shoulder to cry on. You have helped me more than you know. Thanks for coming to the hospital to check on us! I love you both very much.

Terri & Kaylen and Kristen and Landon. I love you guys, your the best friends I could ever ask for. Terri Thanks for baby sitting Brynlee when we need you, it helps us recoup, lol!

Danny!! You know how much I rely on you and how much Brynlee loves you. We couldn't do it without you. I love you tremendously!!!!!!!

To everyone else I didn't mention, I'm sorry it's hard to remember everyone at once, but we love you all!! Thanks

P.S. Brynlee is teething again, Its gonna be a great week, ha ha!

2009-02-19T11:17:00.000-08:00

We are out of the hospital and Brynlee is doing great. She is not as congested as she has been the last couple of days, yay! Hopefully she will be over this soon. Weird thing is that she seems stronger now physically than she did before she was sick. I thought she was going to regress after this one, my midget blows me away! Anyways we are home now and that is all that matters.

My Brynlee

2009-02-15T22:02:00.000-08:00

I am home for the night so I am jumping on to update on Brynlee. As most of you know we have been in primary's picu since Tuesday. Brynlee got cold on Monday and half of her right lung had colapsed by tuesday. The minute we got there Brynlee was intubated because she just couldn't do it on her own. We got her extubated two days ago, thankfully! She got to take her bi-pap off for about five hours today and was breathing on her own. Go Brynlee, yay!!!!! Hopefully we will be able to come home by Tuesday or Wednesday. Sorry that is all I can post, I am very tired!

BUSY, BUSY, BUSY

2009-01-31T13:48:00.000-08:00

I would like to apologize for not posting in such a long time! We have been insanely busy. My sister Annie is moving in with us for a while, it is going to be nice to have a little extra help in the house. I have started online courses at night, and I just finished my first chapter...I got an A, yay!! Thats good after not being in school for so long, lol.

Mark Was going to get on here and post but he hasn't yet. His father passed away last week. Its been pretty hard on him even though they weren't on the best of terms when he passed.

2009-01-07T19:26:00.000-08:00

OH MY HELL!!!! Man I will tell you what, seeing your daughter go blue is the scariest thing in the world! My heart stopped and I thought god no, not now! Brynlee started having foam and liquid coming out of her mouth. So she started coughing and trying to clear it and it was like she was drowning in it. She couldn't get any air so she started turning blue......nobody should have to see there kid do that! I HATE, HATE, HATE, this disease!!!!

So we ran her into her room and started doing cough assist. I put the stethoscope on her and could hear so much fluid in her lungs. I thought #@$% she has pneumonia. I called the best nurse any family could ask for(Abby) and she said. You need to call 911. I told Mark to call 911. So I suctioned her and coughed her and grabbed her BiPAP and put it on her because she was dropping into the low 80's. Stuff was still coming out of her mouth.

The firemen and paramedics got to our house in 4 min. Man, I decided I love those guys! The minute they got there I started crying. I cried for a minute and pulled it together for my little midget. Brynlee was crying and crying, and for those of you who know Brynlee, she doesn't cry, so we knew something was not right. The paramedics kind of looked confused that we had all of the equipment already. I told them that they couldn't take her without her BiPAP, so they were trying to figure out what to plug it into. I also told them that she couldn't be on oxygen. So we called Abby and let her talk to them. She told them no oxygen for longer than 5 min(oxygen can hurt SMA babies). So then they asked if we wanted them to life flight her to Primary's. I told them that i wanted to see what happened if we took her BiPAP off. So we took it off and her oxygen started to go down. I coughed her again and listened to her lungs and her oxygen started to come back up to 99 and 100. I told the guys that we would take her if we thought she needed to go. They gave Brynlee a toy and told us that they would like to have her medical history on file. So if they have to come again they will be better equipped. They asked us to bring it to them when we got some time. I don't know why I didn't think about that before, but that is a great idea.

As soon as they left I called Abby. She said she thought she just threw a plug to, and that if I thought we could handle it at home, that would be fine. So at home we sit. Brynlee is now peacefully sleeping. I called and had it out with the oncall pediatrician to get a pulse oximeter for night time. One that will alarm when her saturation's get to low. Jack ass, I hate doctors that think they know everything about everything. Doctors that don't know anything about our case. I am thankful for the great doctors we do have. I am thankful that the only thing Mark's dad didn't screw us out of, was our insurance. While all of this was going on Mark was running around trying to get everything put together for a trip to the hospital. We now know that we need to have a bag put together for stuff like this. So we have a pulse ox coming tonight and that's the end of this long story. I think Brynlee is ok but we are going to be keeping a super close eye on her.

My little princess

2008-12-26T17:40:00.000-08:00

A couple things to report. Brynlee had her pediatrician and Clinical trial visit last week. Her pedi appointment went well. We love brynlee's doctor and thank god that we ended up switching right before Brynlee was diagnosed. As far as her speech she is and the way she responds, doc said she is doing what a 20 month old does. My little chatterbox! She has grown a ton since she got her feeding tube. She went from 50% to 80% for height in a couple of months and 2% to 35% in weight.

Our Clinical trial went well with Dr. Swoboda. She said that Brynlee is the first one on the trial past one that hasn't gotten worse. YAY, go Brynlee!!! She hasn't gotten better either she has stayed the same, but they upped her meds so I am hoping she gets stronger now!

Last but not least Brynlee got a cold for Christmas. She has only been sick once before this. This is her first runny nose and it sucks because she keeps choking on her secretions. So we are doing lots of cough assists and suction. Please send good thoughts our way that she beats this at home and we don't end up in the hospital!

New skin cell technique gives hope for sufferers of fatal muscle-wasting disease

2008-12-22T09:39:00.000-08:00

Scientists have successfully created nerve cells from skin cells in a breakthrough
that offers hope for those with a fatal muscle-wasting disease.

The transformation opens the way for treatments for spinal muscular atrophy, an inherited disease for which there is no cure.

Researchers took cells from a boy sufferer’s skin and turned them into stem cells – which have the power to grow into any kind of tissue in the body – and then into nerve cells, which displayed the hallmarks of the disease.
These can now be studied to unlock the secrets of how the disease progresses and possible treatments. As the illness takes hold, the nerves that control muscles for moving, talking and swallowing gradually deteriorate.

Around 70 babies a year are born with spinal muscular atrophy and most die by the age of two, with treatment limited to physiotherapy and other types of supportive care.

British experts in muscular diseases described the U.S. breakthrough as a ‘crucial step forward’ in the search for treatments.

The procedure also avoids the ethical issue of destroying embryos to harvest stem cells, which has proved controversial.

Dr Maria Pohlschmidt, of the Muscular Dystrophy Campaign, said: ‘We hope this technique will speed up the research for a treatment for spinal muscular atrophy so that one day parents will not lose their very young children to this devastating disease.’

The research, carried out at the University of Wisconsin-Madison, used a new technique that can produce stem cells from skin.

The scientists used chemicals to coax the stem cells made from the skin of a boy with the disease to turn into nerve cells.
When these were grown in the lab, they quickly started to die, the journal Nature reports.

Researcher Professor Clive Svendsen said further study into such cells could give vital insights into the progression of the illness.

‘When scientists study diseases in humans, they can normally only look at the tissues affected after death and then try to work out – how did that disease happen?,’ he said.

‘Now you can replay the human disease over and over in the dish and ask what are the very early steps that began the process. It’s an incredibly powerful new tool.’

Fellow researcher Dr Allison Ebert said: ‘If we start to understand more of the mechanism of why the motor neurons specifically affected in the disease are dying, then potentially therapies can be developed to intervene at particular times early in development.’

Professor Robert Lovell-Badge, a stem cell expert at the National Institute for Medical Research in London, cautioned that the work was at an early stage.

But he added: ‘This work should provide a little cheer for all those who have to deal with spinal muscular atrophy patients in their families or their clinic.’

An estimated one million Britons are carriers of Spinal Muscular Atrophy – about 1 in 50 – and around one in 10,000 babies are affected.

The illness affects the nerves in an area of the spinal cord, breaking the link between the brain and the muscles, meaning they can’t be used and become wasted or atrophied.

SMA type 1 Brynlee Liston

2008-12-15T15:48:00.001-08:00

Brynlee moving her legs. She used to not be able to do this. In fact she didn't move her legs at all until she was almost one I think. So this is exciting for us!!

SMA type1 Brynlee Liston

2008-12-15T15:44:00.001-08:00

Bryn getting kisses from her daddy

2008-12-09T09:07:00.000-08:00

Therapy

2008-12-09T08:57:00.001-08:00

Brynlee with her therapist.

Swallow Study

2008-12-08T20:03:00.000-08:00

Thought I would jump on and let everyone know we had our Swallow study today. It was AWESOME! She did great and had no problems with all four of the consistencies. I am still glad that we got her tube places before cold and flu and RSV season. We are also going to have a nurse come to our house once a month to give her, her RSV shot. Yay no more trips to the infusion clinic!!! Whoo hoooo.

SHE SAID HER FIRST SENTENCE!

2008-12-07T15:37:00.000-08:00

I am still in shock here it was so cute! I was sitting here putting velcro on the couch. Mark was in the laundry room loading up some clothes. Brynlee is sitting in her stroller waiting for her dad to get done.
Brynlee says...Daddy
Mark says......Yes
Brynlee says...I love you
Mark and I looked at each other and our mouths drop wide open. It was so freaking cute! I really though we were going to have to add speech therapy to our list of therapist but now they can take a hike! LOL. Yay her first sentance at 15 months old.

2008-12-05T13:14:00.000-08:00

Welcome to Holland

by Emily Perl Kingsley - The mother of a child with Down's Syndrome.

I am often asked to describe the experience
of raising a child with a disability --
to try to help people who have not shared
that unique experience to understand it,
to imagine how it would feel: It's like this...

When you're going to have a baby, it's like planning
a fabulous vacation trip -- to Italy.
You buy a bunch of guidebooks and make your wonderful plans.
The Coliseum. The Michelangelo David. The gondolas in Venice.
You learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives.
You pack your bags and off you go. Several hours later, the plane lands.
The stewardess comes in and says, 'Welcome to Holland.'

'Holland?!?' you say. 'What do you mean, Holland?
I signed up for Italy! I'm supposed to be in Italy.
All my life I've dreamed of going to Italy.'

But there's been a change in the flight plan.
They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible,
disgusting, filthy place, full of pestilence, famine and disease.
It's just a different place.

So you must go out and buy different guide books.
And you must learn a whole new language.
And you will meet a whole new group of people
you would never have met.

It's just a different place.
It's slower-paced than Italy, less flashy than Italy.
But after you have been there for a while and catch your breath,
you look around....and you begin to notice
that Holland has windmills...and Holland has tulips.
Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy...
and they're all bragging about the wonderful time they had there.
And for the rest of your life, you will say
"Yes, that is where I was supposed to go.
That is what I had planned."

And the pain of that will never, ever, ever go away...
because the loss of that dream is a very significant loss.

But...
if you spend your life mourning the fact
that you didn't get to Italy, you may never be free
to enjoy the very special, the very lovely things...
about Holland.

A DAY IN THE LIFE OF BRYNLEE

2008-11-29T15:31:00.000-08:00

This is for all of the families who have just had a child or a relative that has been diagnosed with SMA. Our hearts go out to you. Hearing that your child will most likely only live to 2 years old is the most heartbreaking thing that you will probably ever hear. I am not going to lie to you. You will have some extremely hard days ahead of you and some of the greatest! I still have days where the litlest thing makes me cry. When I hear people talk about kindergarten, high school, weddings, its hard for me because I don't know if Brynlee will get to do any of that. Then I have days where she is making me laugh my butt off all day long because she is so smart and funny. SMA life is a life of roller coaster rides, great ups bad downs. I live in constant fear every morning when I go to wake her up and I don't think that will ever go away. If anyone has any questions just let me know.

This is how our day goes.
We get up at 8am.
We do a cough assist(5 sets of 5)
Suction machine
pulse oximeter which checks her oxygen levels and heart rate
3 different meds VPA, Carnitor and eurythromycin
vent before the meds(burping out of her g-tube)
Make her vivonex formula for the day
feed her through her tube over an hour period
play with her and vent her a half hour later and as needed
Monday, Wednesday and Thursday we have a therapist. We have 2 Physical and 1 occupational. Lucky for us they come to our house.
put her down for a nap 2 to 3 hours after she wakes up
sleeps for a hour
cough assist again
suction again
pulse ox again
feed her every 4 hours over an hour period
so anywho I feed her again with one med
bath and change her bandage after feed
vent as needed
Play with her(Those who have a low tone baby know how hard this is!)It is so hard to find things she can do that she doesn't get bored with. Everything has to be so light and easy to push.
Nap again for about half hour(She gets tired easily)
wake up
play and read books till next feed
3 types of meds again
feed for hour
play till bedtime
night time 8pm
bi-pap
Start again the next morning!
I hope this helps anyone who has just been diagnosed. Its scary and believe me I could be a nurse now with everything I know about medical equiptment. You will pick it up after a couple of times, I promise. We haven't had to really deal with hospital stays other than her g-tube. We hear of people who spend months out of the year in there. We have been lucky in that regard! We do talk to the pediatrician and Abby at Dr. Swoboda's office at least once a week though.

2008-11-26T16:14:00.000-08:00

So we had a little scare with Brynlee last weekend. We are trying to switch her formula from similac to an amino acid formula. SMA kids burn more calories at rest then the rest of us do. First off let me start by saying that we already had her switched but her formula is backordered until next week! Way to go Vivonex people you deserve a swift kick in the BUTT!!! By the way anyone who wants to complain about the cost of formula again stick your kid on vivonex for a month....yikes that smelly gross stuff is like 4hundred $ a month. Thank the skies for insurance, lol. Ok back to the scary popcorn. So I fed her twice with straight vivonex, by the end of the second feed she was wretching and gagging with tears coming out of her eyes. So she is sitting there trying to throw up and she can't. Those who don't remember she had a nissan which is where they wrapped her intestines around her stomache so that she doesnt have acid reflux anymore. Well she can't throw up or burp anymore. So she is sitting here doing all of this and I am venting the hell out of her and throwing a couple of ounces away. I go and grab her pulse oximeter because she was starting to not look so good. I get it on her and her heart rate is 183 to 200! Normal for her is 100 to 130.
So I call her doc and while I am talking to her Brynee starts to close her eyes like she just wants to sleep. Brynlee never does that unless she is in her crib. So her doc tells me it is just from the formula and that we are going to have to start her off a lot slower. She told me to let her go to sleep but to put her bipap on and to leave her pulse ox on. So I went and put her down but decided that I needed to hold her. So she is sleeping in my lap and her hr is still high and her oxygen starts to drop even with her bipap on. Her oxygen levels are normally 97 to 100. She dropped down to 92. So I am just holding her crying my eyes out thinking oh my god this is it, how did this happen?!!! I call my doc and she tells me to calm down she really thinks that once it gets out of her system more her heart rate will come down. Well she was right after Bryn woke up her oxygen came back up and her hr slowly started to drop. So we are going slow with the formula and she is doing great! If I didn't think she needed this formula I would take her off of it asap. It is already broken down though and she doesn't have to work to break it down. She has already gained almost three pounds since she has been on it. She is able to move more to. She isn't using up all of her energy breaking formula down.
Anyways that was my scary story and I am thankfull that everything turned out ok!

2008-11-03T09:24:00.000-08:00

More SMA meet and greet. The last one is a pic of Brynlee and Tabitha. Tabitha is another little type 1. She was in the picu while we were there. She was having a hard time keeping her oxygen up. We are so happy that she pulled through and was able to get out of there after being there for a month. Tabitha is a tiny little thing. She is only 2 months younger than Brynlee.

SMA kids meet & greet with REAL soccer team

2008-11-03T09:13:00.000-08:00

We had a meet and greet last week with the REAL soccer team. They were all very nice guys and we sure appreciate them taking time out of there busy schedules to meet our little midgets. Thanks team!! Brynlee got a little freaked out by the guys if you can see by her crying. I think she thought I was gonna leave her with them and she wasn't having any of it, lol.

2008-11-03T09:08:00.000-08:00

Brynlee with her daddy and with her friends, Kiara and Dayana.

Thanks Candi!

2008-10-22T13:27:00.000-07:00

We got our family pictures done. Thanks a million Candi!

2008-10-22T13:22:00.000-07:00

Thanks Randa, I stole this from you.

2008-10-20T10:43:00.000-07:00

You Are Mulan!

Strong and spirited. You're no one's girly girl; actually you are very determined person with a strong sense of self. Never let go of that! The only thing that equals your sense of self is your family, but the traditions of society can always be bent to protect something or someone you love.

Which Disney Princess Are You?

I had to try on her halloween costume!

2008-10-16T08:35:00.000-07:00

Brynlee's g-tube

2008-10-16T08:21:00.000-07:00

We have had a couple of fun days(whew). We are having some difficult times with this feeding tube. Brynlee keeps wretching and gagging. I think personally that she isn't tolerating the new amino acid formula and she just isn't used to eating so much. I am waiting to here back from the GI doc. Brynlee had a nissen procedure done which is where they wrap a portion of the bowels around the top of the stomache. That is so she doesn't have reflux. She will not be able to burp with the nissen or throw up, but man she sure is wretching like she wants to. We also had to make a trip to the pediatrician yesterday. Brynlee was having drug withdrawls from her hydrocodone. They gave her more and now we have to ween her off slowly. I am not opposed to this for one reason and one reason only, she is CUTTING 5 TEETH at once!!! Yeah you heard me, 5! She is cutting 5 on top and the other one on the bottom. So I think that is why she wasn't sleeping, not that she is a drug addict for pete sakes. So anyways long story short, baby is happy again, lol!

2008-10-13T15:34:00.000-07:00

2008-10-09T09:46:00.000-07:00

Hannah

2008-10-08T15:09:00.000-07:00

My second cousins little girl Hannah has gone to be with the angels. She had type 1 SMA, She was just 16 months old. Our hearts and prayers go out to the Hafen family. We got to meet her a week ago while we were in the picu. Like Brynlee she was such a happy little red head. I can't even begin to describe how sorry I am.

2008-06-06T09:50:00.000-07:00

A meeting was held quite far from earth....

"It's time again for another birth!", said the Angels to the Lord above. "This special child will need much love, her progress may seem very slow, accomplishments she may not show, and she'll require loving care from folks she'll meet, way down there. She may not run or laugh or play, and her thoughts may seem quite far away. In many ways she won't adapt, and she'll be known as Handicapped. So let's be careful where she's sent, we want her life to be content. Please, Lord, find parents who will do a very special job for You, they will not realize right away, the loving role they're asked to play, but with this child sent from above, comes stronger faith and richer love, and soon they'll know the privilege given, in caring for this gift from Heaven. Their precious child, so meek and mild, is Heaven's very SPECIAL CHILD."

Clinical Trials

2008-05-30T09:33:00.000-07:00

We had our Clinical Trials all day yesterday. Man I am so thankful that we live here in Salt Lake right next to doctor Swoboda. There were two other families there whose little girls had type two. They had to fly in from out of state. They just diagnosed another family with type 1 the day before. They are in the hospital because their baby has respitory distress. Thank God we have not had to deal with that yet! Our heart goes out to the family and we hope there baby will be ok.

Drum roll please ******** Brynlee's has improved from .5 to .8! YAY!!!!! This means that the meds are working! Brynlee had to get her blood drawn so that we could see how much we need to increase her VPA. They couldn't get it the first time so they had to get her twice. My heart breaks everytime I have to see her go through that. She had her Dexa scan and her bone density is better now to, so that is good news also. Dr Swoboda wants us to get her a sleep study so that we can get a bi-pap for when she gets sick. She wants us to have one on hand. She also wants us to get a swallow study done once a month from now on, so we can stay on top of it.

Brynlee started saying momma and dada and baba. It is the cutest little thing. I was worried that she wasn't going to talk. Then out of the blue she just started talking away. She has the sweetest little voice. Mark and I are going to get another garden in this weekend to cover our ugly utility boxes. We are going to Star Valley next weekend for my cousins wedding. It will be fun and a little scary! My sisters kids are sick right now and thats a bummer because if they are not better Brynlee won't get to see them. Tasha's little girl, Mia, thinks that Brynlee is her baby, LOL.

2008-05-27T09:22:00.000-07:00

Memorial weekend

2008-05-25T10:29:00.000-07:00

Hey all! We met our nurse and she is great. Brynlee seems to like her so that is a bonus. She will be out once a week to check on her. She was supposed to be out twice a week but Brynlee is doing great so we only need once. Yay! The hospice doctor came out to meet her also. He is a nice guy. He will only be out when we need him. Both of our Physical Therapist's are also going to be cutting back. So one will be every other week and the other one will be every three weeks or so. They said that I am doing everything that they do so we don't need them as much anymore. I am kind of happy about this. Not that I don't love them both. Its just so hectic with all the therapy appointments all the time.

We sent in our prototype so it should be there on Monday, Yay! Mark and I are going to get some time away today and go golfing. My friend Danny is going to come and babysit(Thanks Danny). She has been around Brynlee since she was born so Brynlee loves her. She is also certified in CPR so I totally trust her! Anyways I hope everyone is having a great weekend.

Hospice

2008-05-19T11:38:00.000-07:00

Hi everyone we just went on hospice because we can utilize more services through them. Our nurse is coming out today. Wish us luck that Brynlee likes her. She will be out twice a week to check on her. So that should make me feel a little better about things. Brynlee is not wanting to drink very much lately so we are having a little battle with that. We need to take her in to her pediatrician in another two weeks to be weighed again.

In other news, we submitted our suspension invention to a special needs catalog last week. I talked to the woman today and they are going to use our idea! How exciting right?! Anyways Brynlee has Physical Therapy twice this week so it will be a slow one for us, yay!

We want to send a special Thanks to Brynlee's uncle Bryan for getting this blog going for us. Thanks Bry!

Spinal Muscular Atrophy(SMA) facts.

2008-05-19T11:26:00.000-07:00

Quick Facts About SMA

Spinal muscular atrophy (SMA), the number one genetic killer of children under the age of two, is an often fatal disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing.
WHO IS AFFECTEDSMA is one of the most prevalent genetic disorders.
One in every 6,000 babies is born with SMA.
SMA can strike anyone of any age, race or gender.
One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA.
7.5 million Americans are carriers.
THE TYPES OF SMASMA Patients are classified into four types based on milestones achieved at onset of SMA. Type I and II are the most prevalent.
Type I, or Werdnig-Hoffmann Disease, is the most severe form of SMA. Type I SMA strikes infants between birth and six months old. Children affected with Type I cannot sit without support.
Type II affects infants between seven and 18 months old. Type II patients may be able to sit unaided or even stand with support. They are at increased risk for complications from respiratory infections.
Type III, also known as Kugelberg-Welander Disease, is the least deadly form of childhood-onset SMA. It strikes children as early as the age of 18 months, but can surface as late as adolescence. Type III patients are able to walk, but weakness is prevalent. Most patients eventually need to use a wheelchair.
Type IV is the adult form of the disease. Symptoms tend to begin after age 35.
SMA does not affect sensation and intellectual activity in patients. It commonly is observed that patients with SMA are unusually bright and sociable

What Is Spinal Muscular Atrophy?

Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common "rare disorder": approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.
SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable. Patients are generally grouped into one of four categories, based on certain key motor function milestones.

What Causes Spinal Muscular Atrophy?
SMA is an autosomal recessive genetic disease. In order for a child to be affected by SMA, both parents must be carriers of the abnormal gene and both must pass this gene on to their child. Although both parents are carriers the likelihood of a child inheriting the disorder is 25%, or 1 in 4.
An individual with SMA has a missing or mutated gene (SMN1, or survival motor neuron 1) that produces a protein in the body called Survival Motor Neuron (SMN) protein. This protein deficiency has its most severe affect on motor neurons. Motor neurons are nerve cells in the spinal cord which send out nerve fibers to muscles throughout the body. Since SMN protein is critical to the survival and health of motor neurons, without this protein nerve cells may atrophy, shrink and eventually die, resulting in muscle weakness.
As a child with SMA grows their bodies are doubly stressed, first by the decrease in motor neurons and then by the increased demands on the nerve and muscle cells as their bodies grow larger. The resulting muscle atrophy can cause weakness and bone and spinal deformities that may lead to further loss of function, as well as additional compromise of the respiratory (breathing) system.
There are four types of SMA, SMA Type I, II, III, IV. The determination of the type of SMA is based upon the physical milestones achieved. It is important to note that the course of the disease may be different for each child.
Type IType I SMA is also called Werdnig-Hoffmann Disease. The diagnosis of children with this type is usually made before 6 months of age and in the majority of cases the diagnosis is made before 3 months of age. Some mothers even note decreased movement in of the final months of their pregnancy.
Usually a child with Type I is never able to lift his/her head or accomplish the normal motor skills expected early on in infancy. They generally have poor head control, and may not kick their legs as vigorously as they should, or bear weight on their legs. They do not achieve the ability to sit up unsupported. Swallowing and feeding may be difficult and are usually affected at some point, and the child may show some difficulties managing their own secretions. The tongue may show atrophy, and rippling movements or fine tremors, also called fasciculations. There is weakness of the intercostal muscles (the muscles between the ribs) that help expand the chest, and the chest is often smaller than usual. The strongest breathing muscle in an SMA patient is the diaphragm. As a result, the patient appears to breath with their stomach muscles. The chest may appear concave (sunken in) due to the diaphragmatic (tummy) breathing. Also due to this type of breathing, the lungs may not fully develop, the cough is very weak, and it may be difficult to take deep enough breaths while sleeping to maintain normal oxygen and carbon dioxide levels.
Type IIThe Diagnosis of Type II SMA is almost always made before 2 years of age, with the majority of cases diagnosed by 15 months. Children with this type may sit unsupported when placed in a seated position, although they are often unable to come to a sitting position without assistance. At some point they may be able to stand. This is accomplished with the aid of assistance or bracing and/or a parapodium/standing frame. Swallowing problems are not usually characteristic of Type II, but vary from child to child. Some patients may have difficulty eating enough food by mouth to maintain their weight and grow, and a feeding tube may become necessary. Children with Type II SMA frequently have tongue fasciculations and manifest a fine tremor in the outstretched fingers. Children with Type II also have weak intercostals muscles and are diaphragmatic breathers. They have difficulty coughing and may have difficulty taking deep enough breaths while they sleep to maintain normal oxygen levels and carbon dioxide levels. Scoliosis is almost uniformly present as these children grow, resulting in need for spinal surgery or bracing at some point in their clinical course. Decreased bone density can result in an increased susceptibility to fractures.
Type IIIThe diagnosis of Type III, often referred to as Kugelberg-Welander or Juvenile Spinal Muscular Atrophy, is much more variable in age of onset, and children can present from around a year of age or even as late as adolescence, although diagnosis prior to age 3 years is typical. The patient with Type III can stand alone and walk, but may show difficulty with walking at some point in their clinical course. Early motor milestones are often normal. However, once they begin walking, they may fall more frequently, have difficulty in getting up from sitting on the floor or a bent over position, and may be unable to run. With Type III, a fine tremor can be seen in the outstretched fingers but tongue fasciculations are seldom seen. Feeding or swallowing difficulties in childhood are very uncommon. Type III individuals can sometimes lose the ability to walk later in childhood, adolescence, or even adulthood, often in association with growth spurts or illness.
Type IV (Adult Onset)In the adult form, symptoms typically begin after age 35. It is rare for Spinal Muscular Atrophy to begin between the ages of 18 and 30. Adult onset SMA is much less common than the other forms. It is defined as onset of weakness after 18 years of age, and most cases reported as type IV have occurred after age 35. It is typically characterized by insidious onset and very slow progression. The bulbar muscles, those muscles used for swallowing and respiratory function, are rarely affected in Type IV.
Patients with SMA typically lose function over time. Loss of function can occur rapidly in the context of a growth spurt or illness, or much more gradually. The explanation for this loss is unclear based on recent research. It has been observed that patients with SMA may often be very stable in terms of their functional abilities for prolonged periods of time, often years, although the almost universal tendency is for continued loss of function as they age.

Diagnosing Spinal Muscular Atrophy
SMA is diagnosed primarily through a blood test, which looks for the presence or absence of the SMN1 gene, in conjunction with a suggestive history and physical examination.
Normally, individuals have two genes called Survival Motor Neuron 1 and 2. In approximately 95% of patients with SMA there is an absence of the SMN gene sequence, which is present in normal individuals. Sometimes the SMN1 gene is not missing, but mutated. The numbers of copies of SMN2, a near identical backup copy of the SMN1 gene, is related to the severity of the disease, but does not reliably predict a specific SMA type in a given individual. SMA type is generally determined from the clinical examination evaluating the child’s degree of weakness and ability to achieve major motor milestones such as sitting independently or walking.
Occasionally, doctors may request muscle biopsy or EMG (electromyography) testing. Since the genetic blood test became available, a muscle biopsy is almost never indicated and is valuable mainly in cases where the blood DNA test is negative.
EMG measures the electrical activity of muscle. Sometimes this test is performed to help distinguish other disorders of nerve or muscle, which can mimic SMA. Small recording electrodes (needles) are inserted into the patient's muscles, usually the arms and thighs, while an electrical pattern is observed and recorded. In addition, a nerve conduction velocity test (NCV) is performed to help assess how well the nerves are functioning in response to an electrical stimulus. Small shocks are repeatedly administered to help assess nerve integrity and function. When performing this test on a child, if at all possible, it should be performed by a doctor experienced in caring for children

Prognosis ... What Does it Mean? What Are We to Expect?
Researchers have identified the SMN1 gene as the primary manufacturer of the SMN Protein. It is the absence/defect of this SMN1 gene that causes Spinal Muscular Atrophy. However, there is another form of this gene called SMN2. The SMN2 gene is similar to SMN1, but does not produce as much protein, or the right kind of protein, as the SMN1 gene. One determination of prognosis is the number of copies of the SMN2 gene. The greater the number of SMN2 copies, the more SMN protein is produced and the greater likelihood that more motor neurons remain healthy and productive. Individuals with only 1 or 2 copies of the SMN2 gene will typically have the most severe expressions of SMA. Three or more copies of the SMN2 gene will typically mean a less severe expression.
Each type of SMA has variability among individual patients. Please keep this in mind when considering an individual’s care.
Raising a child with SMA should be no different than raising a child who is not affected. Do as many things as possible that are age appropriate. Many times this means making adaptations. It is very important that children with SMA are assisted in reaching their utmost potential.
It is important to understand that parents and patients have rights and that you are not alone. Most hospitals have social service departments that can give you a shoulder to lean on. Don't be afraid to say NO if something doesn't seem right. Don't be intimidated or afraid to ask questions. If you forget to ask something, call your doctor or contact Families of SMA for suggestions. In this context, it is also important that your child be followed by a physician who is familiar with SMA and its complications.
Type I (and some Type II)
While most children diagnosed with Type I are still infants there are a myriad of things that can be done to assist in the cognitive, physical and emotional health of your child. Using balloons and feathers as toys makes for wonderful stimulation and allows them a feeling of independence and accomplishment. Reaching games are a form of physical or occupational therapy that can be very helpful. Instructions in range of motion and other physical/occupational therapy ideas by a licensed therapist are important no matter how young the child. Your physical/occupational therapist can also suggest ideal seating systems that will be most helpful in the comfort and maximum mobility of your child.
Water therapy can be very helpful as the buoyancy of the water allows movement of the arms and legs that may otherwise not be there. Be sure that the water temperature is at least 90˚F and that the child’s head does not go under the water or into the water. You must watch so that the child has no possibility of aspirating (getting fluid into their lungs).
Children with SMA who have difficulty swallowing are at risk for aspirating when eating. Sometimes the child may aspirate his/her own secretions. The child may choke while eating and may also experience weight loss as swallowing becomes more difficult. Assistive feeding may be necessary. Two possible options are:
Nasogatric Tube (NG-Tube): a surgically placed tube through the nose that goes directly into the stomach.Gastrostomy Tube (G-Tube): a surgically placed tube through the skin that goes directly into the stomach.Because a child with SMA Type I has difficulty coughing, contacting a respiratory therapist is very important so you can be instructed in chest physiotherapy (CPT). CPT is a method of clearing the lungs of accumulated mucus by using positioning and clapping on the chest to assist in loosening secretions. Saliva can settle in the nasopharynx causing a faint gurgling sound. Often the secretions or mucus need to be removed by the use of a suction machine. Blowing raspberries and bubbles encourages respiratory strength.
Individuals with SMA can also benefit from the use of a cough assist machine. The CoughAssist™ achieves this by applying a positive pressure to the airways to inflate the lungs, and then rapidly shifts to negative pressure to pull the air out of the lungs. The rapid shift in pressure produces a high expiratory flow from the lungs, simulating a cough. This technique, referred to as "mechanical insufflation-exsufflation," avoids airway damage while clearing the lungs of secretions. The device offers patients greater comfort and quality of life without the use of invasive procedures and equipment. Patients as young as 4 months have been able to use the CoughAssist™ successfully.
Respiratory distress can be monitored by measuring the level of oxygen saturation in the blood using a tool called a pulse oximeter. A small clip or tape with a red light and a sensor is placed on the patient’s finger or toe to determine the oxygen saturation. Children with SMA Type I usually require breathing support while sleeping. Some children require more breathing support, especially with colds. There are several options to consider.
BiPAP (Bilevel Positive Airway Pressure) uses a nasal mask with a cap, which fits over the head to hold it in place over the nose. BiPAP provides a higher volume of air into the lungs during inhalation and inflates the lung greater than what the person can do on their own. During exhalation, the BiPAP pressure drops so that air can passively leave the lungs. The BiPAP machine can sense when the person is taking a breath and give the breath in synchrony with the individual. A respiratory rate is also set so that the BiPAP gives a minimum number of breaths per minute. The person can breathe above that rate and the BiPAP will deliver more breaths. CPAP (continuous positive air pressure) should never be used in patients with SMA. Negative Pressure Ventilation refers to providing breaths into the lungs using a large chamber or tank that encircles the chest similar to the old Iron Lung. The chamber is connected to a vacuum pump that takes the air out of the chamber and, as a result, the chest wall expands to bring air into the lungs. A Port-A-Lung is an example of a negative pressure ventilator. It can be set to deliver a specific number of breaths per minute and a vacuum pressure. Mechanical ventilators or respirators come in a variety of models. Mechanical ventilators are more complex, but also allow for control of more variables. The ventilator can be set to deliver a specific size breath at a set number of breaths per minute. Mechanical ventilation can be delivered with a nose mask, mouthpiece while awake, or through a tracheostomy tube. A tracheotomy is placement of a surgical hole in the neck to the large airway (trachea) that a tube can be inserted. A tracheostomy tube bypasses the mouth and vocal cords and goes directly from the skin to the trachea (wind-pipe). A respirator or ventilator is connected to the endotracheal tube or tracheostomy tube.Consult your physicians and respiratory therapists or contact Families of SMA for literature.
It is important to understand your rights when it comes to making life-sustaining decisions for your child. Be sure that both parents discuss their feelings about this very delicate topic. It is a decision that cannot be made lightly and all options should be covered. Talking to a counselor in the department of social services at your hospital may be helpful. Once your decision has been reached be sure that you put it in writing, and that all necessary medical personal and family members are aware of your wishes. This is your decision, one you have reached with great care and anguish, and under no circumstances should you allow others to judge you or place their values upon you. You are never alone. Families of SMA is always just a phone call away.
Type II (and some Type III)
It is important to get your child upright at the earliest possible age. Standing is important in development. It allows for better respiratory function, improved bowel function, and encourages greater mobility. Getting your child in an upright position may sometimes require advocacy on the part of the parents to encourage the physician to write a prescription for standing aids.
There are several options to consider when choosing the appropriate standing aid.
One option is a standing frame and/or parapodium. For added mobility and independence a standing wheelchair is ideal. A child as young as 13 months can use this. Bracing is also an option. Reciprocating GaitOrthosis (RGO's) and weight bearing knee ankle foot orthoses (KAFO’s) have been found to work for children with Type II, and these children have been able to take some steps. Use of the appropriate type of assistive device or walker with braces is important and various options should be explored with your therapist.
The use of a light-weight manual wheelchair can be an exciting addition for the SMA child. It can provide mobility, independence and a taste of adventure, while still allowing them to use some of their own strength. However, it should be understood that for true independence and mobility, a power wheelchair is necessary.
Scoliosis (curvature of the spine) occurs at some point in essentially all children with SMA Type I and II and some Type III. The degree of the scoliosis will be a factor in deciding how to treat it. Because scoliosis can restrict breathing and pulmonary function, necessary precautions should be taken early. Options for managing scoliosis are: custom seating systems, seating aids and a body jacket. Later, spinal fusion surgery may need to be considered.
If your child has frequent colds and difficulty coughing you may want to inquire about a cough assist machine. The CoughAssist™ is discussed in more detail in the Type I section.
Diet, as with any growing child, is very important. Your child's diet deserves careful consideration. Excessive weight can make mobility more difficult. Constant contact with your physician and a nutritionist is very important in this aspect of care.
Type III
Because children with Type III walk at some point unassisted, it is important that they be monitored so that any difficulty may be detected at an early stage. The use of a walker and bracing may become necessary. The use of a light-weight manual wheelchair may be considered for distance as well as an electric scooter or other motorized chair Physical and Occupational Therapists should be consulted. Diet should also be monitored.
Type IV: Adult Onset
As an adult you are aware of your weaknesses and limitations. You should work together with your physician, physical and occupational therapist to work out the best possible program for you. As with Types I, II, and III, diet and nutrition are an important factor in your well-being

2008-05-18T14:26:00.000-07:00

Brynlee at almost 6 months old.