Cash for Nash & SMARD (SMA w/ Respiratory Distress)

For: SMARD Fund
Lincolnshire, IL
Organizer: Brittany Stineman
Cash for Nash & SMARD (SMA w/ Respiratory Distress) (SMARD Fund)
$51,886
of $60,000 goal
86% Complete
Raised by 462 donors

The Story

On October 4, 2017 (after months and months of fighting for a diagnosis), our life was forever changed by the following words:

“SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1.”  Also known as SMARD1.


We have learned A LOT about this disease, thank goodness for Facebook. Obviously, the first thing I did was find a SMARD1 Facebook group to understand what this VERY SMALL patient population looks like.  What I have learned, is that there is a MAJOR spectrum.  There are a few things that remain relatively consistent- wheelchairs, tracheostomies, cognitive ability and A LOT of REALLY HAPPY HAPPY KIDS AND FAMILIES.  There are some things that remain inconsistent- physical ability and the road ahead.  


Nash’s prognosis is good as long as he can stay healthy from a respiratory standpoint.  The benefit of having a tracheostomy is that you have a stable airway in the event that you have a major respiratory infection.  You don’t have to worry about airway collapse, stability and what to do in an emergency.  With that comes A LOT of machines, education, nurses, sacrifices; but, Nash’s health remains a priority and we are certain that in time we will come to terms with our new normal.  Most importantly, SMARD1 requires mechanical ventilation because skeletal muscles become affected (the diaphragm), which eventually will not allow him to take a deep breath.  Even if he can continue without a tracheostomy, he will be using all of his accessory muscles so much that he will struggle to thrive and be the best version of himself.  We are excited for Nash to have the energy, stamina and ability to grow and thrive by making this decision.  By having a tracheostomy, his lungs will not work so hard causing other organs to compensate and his ribcage and spine to atrophy.


In the meantime, we are praying to raise as much money as humanly possible to help with finding a cure and to have some money to set aside specifically for Nash in the event that something catastrophic happens. Bobby and I remain DESPERATELY committed to research and a cure.  We have been working with a number of families in our support group to help facilitate research and funding.  Currently there are 3 institutions that have ongoing research which is close to a cure in mouse models.  Gene therapy has proven to be successful by injecting a virus into these mice, called AAV9 vector.  Historically (and I am talking recent history), gene therapy has only been FDA approved for 2 diseases, which makes me really nervous but excited at the same time.  I will be committing most of my time and energy to raising money to facilitate progress so that Nash and other victims of this horrific disease can live life to his maximum potential.  I have included links to the studies and other information about the disease below.  

I have been pounding the pavement since the day we received the diagnosis.  Have had the opportunity to work directly with Avexis (a pharmaceutical company currently in a Phase 3 clinical trial with AAV9 therapy for SMA which was approved on October 12 of this year), Cure SMA, researchers in Missouri and Italy and many others.  I am BEYOND HOPEFUL through fundraising and dedication we will get somewhere, and quick.  Thanks to my cousin, Amanda Blair, for facilitating the intro to Avexis.  


Brittany, Bobby, Blake & Nash

Fundraiser Updates

Posted on January 30, 2018

Posted on January 30, 2018

I couldn't be more proud that this kid is mine.  He continues to defy odds and challenge his diagnosis.  He amazes us daily!

https://www.facebook.com/brittany.stineman.5/videos/10102414124077991/


Posted on November 25, 2017

UpdateImage

Posted on November 25, 2017

We are so thankful for each and every one of you, and want to just let you know that.  Things have been utterly insane being discharged from the hospital, which is why we have been a bit quiet.  I wanted to fill everyone in on our plan, and what has been going on for the past week.  


So, for the past 3-4 weeks, we were sitting in the TCC (Transitional Care Unit) at Cincinnati Children's waiting for the other shoe to drop, and ultimately trach Nash.  His health is continually improving, so together with Nash's physicians, we decided that it was time to transition home.  They have instilled so much faith in our capabilities as Nash's parents and primary caregivers.  Because of the faith they have in us, we both felt so confident that the right decision was to get him home, and wait to see what happens as there will be many warning signs if things are going crazy.  


We have come home with an NJ tube and on bi-pap for sleep/naps.  Our goal right now is to see what Nash is capable of now that he is actually thriving.  If he continues to get stronger (which he has over the past month), we will keep on this path.  If he gets continually weaker, or has a change in status in any way we are heading back for his tracheostomy and GJ tube.  He still is continuing to baffle everyone, and the neuromuscular pulmonologist even said he feels as conflicted as us about the tracheostomy.  We all agree that he will probably require it at some point, but right now he is doing amazing, and we are trying not to fix something that isn't broken... So keep praying for us!  


1 week home, and what a week it has been!


Saturday, November 18- we arrived home with Nash and it was his 1st birthday!  He did amazing on the 5.5 hour ride home, and looked out the window a majority of the time, or he slept.  It was so cute, he was so excited.  When we arrived home, things were super stressful as we had to unload an entire trunk of equipment and set it up at home for the first time.  In the meantime, our little friend pulled out his NJ (nasojejunal) tube.  We called around to get back in with interventional radiology at Lutheran General and Evanston, and both were telling us we had to be admitted.  After 4 months, you can imagine how I handled this news.  We called Milwaukee Children's and had an appointment the following morning! 


Sunday, November 19- Drove to Milwaukee Children's and spent 1/2 of our day having Nash's NJ tube replaced.  He did wonderful.  Then, my mom and sisters set up a little birthday party/homecoming party for Nash!  We had a photographer and there was a superhero theme- for our little superhero!  When we got home, Blake wound up having a fever, and we were freaking out... well, because of the obvious.


Monday, November 20- Such a beautiful day- I was able to take Blake and Nash on a walk, and took Blake to the park.  At 1:00, I had a 2 hour meeting with the President of Cure SMA, Kennth Hobby, at Starbucks in Northbrook.  Walked in, and Nash's theme song (The Cure) was playing - NO, I am not making this up... and I had a mini-meltdown while he was ordering my drink.  Anyways, talk about a wealth of information.  We have been so fortunate to have so many people reach out about all of the clinical trials SMA has going on!  Unfortunately, SMARD patients do not qualify for any of these trials as they are on a different gene.  That said, the AAV9 therapy that is being researched in SMARD and in Phase 3 clinical trials for SMA is being observed as a potential cure for both! Kenneth has given me so much information to chew on, and has also provided timelines, contact information for others and so much more.  Not to mention, he is very much tied into Avexis. 


Tuesday, November 21- A sorta lazy day. We were reunited with Nash's Physical Therapist!  She hasn't seen him in 4 months, and it was so great to catch up and he did so well.  After PT, we spent a majority of our day cleaning our house trying to organize 4 months of insanity that looks like a bomb went off. While we were at the hospital, our basement flooded because our backup sump pump was not plugged in (yes, when it rains it pours) so we had to try and get life back to as normal as possible.  Oh, and we just finished our basement this past year- haha. Gotta laugh where you can, I guess?


Wednesday, November 22- Cleaning continued... 


Thursday, November 23- Happy Thanksgiving!  This is where I have to spill my heart out to every single person that has spent so much time, energy, money and guidance on our family and Nash.  I have not been very forthcoming in the gratitude I feel to have each and every person on this journey with us and for the funds we have raised in honor of Nash's disease.  I can promise you this- we will be VERY responsible with the money, and have already set out a  plan (which we will fill everyone in on soon) for the funds.  That said, we are beyond grateful that Nash was able to come home and spend Thanksgiving with our family.  We had a very uneventful day and had dinner at my mom's.  When we got home, Mr. Man himself managed to (WAIT FOR IT....) pull out his NJ tube again! Yippee skippy!  We called Milwaukee and had another appointment this morning.  


Friday, November 24- Back to Milwaukee to have Nash's NJ tube replaced.  Milwaukee Children's has been super accommodating and we appreciate their availability for us more than anyone can fathom.  Had lunch with my family, and then came home and interviewed nursing companies. 


That's it for now, and I know that there will be lots of new information to share in the next weeks ahead!  So, be expecting a lot of posts from me, and thank you thank you thank you all again!  


Sorry that my posts are never short :-) 



Posted on November 6, 2017

UpdateImage

Posted on November 6, 2017

SOMEONE HAD HIS FIRST REAL BATH IN MONTHS! He was beyond excited and splashed water all over the place.  He also got to go on two 1-hour walks outside with me and his amazing nurse! I cried A LOT this weekend--- ALL were happy tears! Then I checked our #smashSMArd fund, and it was waterworks in here.  Not just from the bath water, but from all of the tears of joy and gratitude. 

Exactly 1 week ago (almost to the minute), we started this fundraiser with a goal of $10,000 to raise in the name of SMARD and our fighter, Nash.  We have been able to exceed that by 3 times thank you to everyone who believes in us and our cause.  

Almost 1 month ago to the day, Nash's diagnosis was given to us and we have been empowered by his strength.  From that moment, we knew we had an obligation to bring awareness through our extensive and amazing network of friends, family, clients and people we now consider our TEAM! 

It is beyond our wildest imagination that we would be here this quickly, and plan to continue to keep "upping the ante" so we can do big things quickly. 

What I can tell you from conversations last week... big things will happen, I really have faith.  The biggest hurdle, according to AveXis, in Nash's disease is that the IGHMBP2 gene (SMARD gene) is SO MUCH larger than the SMN gene (Spinal Muscular Atrophy gene).  Because of that, proper dosing and administration is what has been the challenge in SMARD.  According to conversations with the researchers, it is hard with such a large gene to target each mutation so they first have to "create" mice with the most common mutations which is what they need funding for.  The other part of it is that they have found that the younger you are the better to stop the motor neurons from degenerating, rather than reversing the motor neurons which have already degenerated.  So, right now, they are recruiting for their Phase 3 trial for SMA and hopefully SMARD will be added to their list of ALS and Rett syndrome soon to be a part of clinical trials.  Please read this article, if you have time, about this gene therapy- it really is amazing.  Thank you for sharing, Sierra! 

http://www.sciencemag.org/news/2017/11/gene-therapy-s-new-hope-neuron-targeting-virus-saving-infant-lives

One of the most important things I believe about this disease, is that a lot of "SIDS" babies are dying of SMARD which is why this disease is entirely under diagnosed.  Before these babies are able to get the diagnosis, they pass away.  I am not a doctor or scientist, but this is just a guess based on some pretty extensive research and numbers.  I won't go into details, because this would go on and on.

My goal would be to add the IGHMBP2 gene to a prenatal genetic screening (I haven't had a ton of time to research that, because I have bene so focused on the trials).  For people who do not get genetic screening, my hope is that once there is a cure for SMARD, that the disease can be a part of the newborn screening.  Additionally, I would love to find a researcher who would be interested in doing a case study on families who have lost their infants to SIDS, and genetically determining if the parents are carriers for the mutation. 

Well, Happy Monday and thank you for letting me start off week 2 by raising our goal to $40,000! 

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