SMA Blog

What is SMA?

Spinal Muscular Atrophy to us is:

life changing

permanent

scary

unknown

tears

breath

unable

missing

aching

.the end.

Its sister disease SMARD is what took her life. Took our hopes and dreams. Our future. Our happiness. Our love and devotion. Our perfect. Our smiles. Our passion. Our family.

it began

july 18 2009

makenzie rye webster

pure bliss

unbelievable amounts of joy and love

our heaven

it ended December 13 2009

Dear SMA/SMARD

The words I want to say to you are not appropriate for this public post. The anger I feel is extreme. No only did you take her away. Not only did you crush our dreams. Not only did you change our lives forever- but- you also gave her pain, you made her hurt... How dare you! How could you? There are so many you effect. There are so many you hurt. Why? They are so young. So perfect. Why?

I could sit here and yell. I could scream. I could pound my fist. All Day.

 But what I'm going to do- is step back- knowing your going to be done. Knowing you are not going to win forever. You will be gone soon. There are people out there who are working day and night to find a cure. We are close. You wont get them all. We will live to see an end. You will be gone. Life will be good.

I hate you.

Love The Mother of an Angel.

The hell of SMARD

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 Ryan 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 blood work and was, until very recently, unavailable in the United States.

It usually takes up to 3 months to get any testing results back- Makenzie's blood was drawn on December 3rd and we got her results back December 31st (our amazing Doctor sped the process up for us.) Makenzie has a more unusual case- 2 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 attacks breathing musculature first, and moves to other muscles, this is what happened with Makenzie. Every living child with SMARD 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.

With SMA- roughly 1 in every 10,000 children are born with this disease.

With SMARD- roughly 1 in every 1,000,000 (if that) are born with this disease.

1 in 40 people are carriers of the SMA gene.

1 in 50,000 are carriers of the SMARD gene.

 

 

 

Please help! Vote. Donate. Help find an end. A cure.

 

Vote for the Gwendolyn Strong Foundation to win $20,000 for SMA research at VoteForSMA.com every day in September through Jimmie Johnson’s Samsung Helmet of Hope contest. Simply cut and paste the below as part of your post:

PLEASE VOTE: It’s really this simple –

You can vote once EVERY DAY from now until September 29th at 5 PM EDT