Wednesday, August 19, 2009

SMARD--A Brief Tutorial

I am frequently asked about SMARD, and the questions are usually along one of two lines: 1. What is it? and 2., How is it different from 'regular' SMA? If you've been wondering, you're in luck! Here you go!

What is SMARD? Spinal Muscular Atrophy with Respiratory Distress (SMARD) is part of the Spinal Muscular Atrophy family of disease. It is a motor neuron disease, meaning there is progressive destruction of cells that control motor function, such as breathing and speaking. Cognitive function is unaffected. Like all motor neuron disease, there is no cure. It is an autosomal recessive disease, meaning in theory both my husband and I carry the mutations that cause SMARD (this is as yet to be determined--we still need to be tested). Testing is done through bloodwork and was, until very recently, unavailable in the United States. Dakin's work was sent to England. Initial testing took 3 months and the final, definitive test was not completed until a YEAR after the blood was submitted, though his is a less usual case--he has two different mutations.

How is it different from SMA? SMARD is caused by mutations on the IGHMBP2 gene, whereas 'regular' SMA is caused by mutations of the SMN gene. SMARD typically (from what I have seen) attacks breathing musculature first, and moves to other muscle sets--we saw this with Dakin--he one day could no longer breathe because his diaphragm no longer worked as it needed to. There was no other sign of muscular weakness until long after his inital 'crash' event. Every living child with SMARD that we know of is trached and ventilated--without the diaphragm these children cannot breathe.

SMARD is little understood and even less known. Since IGHMBP2 is such a 'newly' discovered gene, there is not a lot by way of information about SMARD (and what is available is scary or requires an MD to understand). As far as we are aware, there are only maybe 60 diagnosed cases in the world, and we have only been able to contact 5 other families.

We have a few projects in the works to raise awareness of SMARD. We have been working with FightSMA about a SMARD info page on their website, and we have approached Families of SMA with the same request. We also have a Facebook site, started by another parent, to help raise awareness. There are additional plans in the works...more info to come later!!

So there you go. SMARD 101.

11 comments:

Junior said...

thanks for sharing this info, I have been wondering about the difference.
big hugs

Lucy and Ethel said...

I've made myself a note to use your post on our blog, and I'm going to try to find the SMARD Facebook page... all by myself :)

Helen/'Lucy'

avide said...

My 7 month old son was just diagnosed with this. It is very sad. He has been hospitalised since he was almost 2 months old. Now he is out on a home ventilator and we were hopeing he would grow out of whatever was wrong until the doctors called and said he tested positive for smard.

Jeff Black said...

My daughter is being tested for SMARD. Did Dakin lose his voice prior to being intubated? Could I contact you with more questions?

Devon said...

Jeff: please do! I'd be happy to answer any questions you might have. I saw you're in TX--we are too. Email me at poundoutsma@gmail.com

Looking forward to talking to you!

cathy said...

Hello there! It is so nice to see you getting on and enjoying an ordinary life as much as is possible. My son Tom had SMARD1. We live in Liverpool and that is exactly how we lived our life- bubbles- giggles- gardening- swimming- facepaints! Tom was born in 2000, vented at 6 months and the dignosis came in 2004. he died aged 6, his life was full and fun and challenging and we miss him. We had Libby at the end of 2004 so Tom got to be a fab big brother, and now Ned is here to hear and see all the stories and videos and pictures of our family life with Tom. There were only 10 hits for SMARd1 in google in 2004! No sign of any familes on line so this is a great blog for others in your situation that need to share. Take care x

Liz said...

www.kendraandryanwebster.blogspot.com New diagnosis.

Sophia Lael said...

Thank you for sharing! As a nurse this is interesting as in my community there are at least two SMA kids and one of them SMARD. I would love to add your blog to follow. :-)

Unknown said...

I am a home health nurse. My client has believed to discover that she actually has SMARD not SMA I. She tested negative for SMA I. As You stated SMARD is a newer diagnosis and FYI my client just turned 15! She is doing well and remains healthy. SMARD didn't exist when she was first diagnosed. Thank you for this blog because it helped us figure out her real diagnosis! Well wishes and blessings for you all.

Devon said...

To the previous poster...hello! Thank you so much for commenting! It is always good to find new people!! I would love to meet your patient's parents...please email me! poundoutsma@gmail.com

Megan Fink said...

My son is 4 months old right now, and we got tested for this. He has had problems since birth. SMA was neg, but SMARD came back as indeterminate, which means they could only find one mutated gene. We are still really hopeful and I am always on the look out for more info about SMARD. Thanks for your blog I will be following.