Wednesday, September 26, 2012

SMARD research

SMARD is a life-threatening motor neuron disorder. Symptoms of SMARD are commonly seen within the first six months of life and many of these children will not live to see their first birthdays.

A life with SMARD means:

- Having little to no control over your legs and feet.
- Weak muscles throughout your body making it difficult to lift your arms, hold a crayon, or even raise your head.
- An inability to breathe due to a paralyzed diaphragm. Without a trach and ventilator a SMARD child would not be able to live.
- Deformed bone structure and pain especially without proper therapy.

But there is hope for these kids.  SMARD is the rarest of rare diseases so there is very little information about it out there, but the gene that causes SMARD has recently been discovered and treatments are being researched by a handful of doctors and scientists throughout the world.  The Jackson Lab is the only place in the US that we know of where significant SMARD research is happening. 

Earlier this year, a conference was held in the Netherlands that was the first of its kind focused on SMARD research. The fact that there was enough interest to have a dedicated meeting on SMARD is extremely exciting.  The conference established important relationships between the Jackson Lab and European researchers and they are going to start working together to speed up their research.

At the office at Jackson Lab.  They care a lot about these kids.  There's Nate on his bike!

Meet Dr. Cox and Dr. Soundararajan from the Jackson Lab.  They are giving us hope for a cure!  You can read more about them and their efforts here. 

Because of the rarity of this disease, nearly all of their research dollars are coming from friends and family of those affected. It would mean so much to our family and all of these kids fighting SMARD if you'd consider donating to the Jackson Lab.  You can easily do so here.

Below is a video made specifically for SMARD families to keep us informed about their research.  It's long and fairly specific but I'm posting it here in case any of you are interested/scientific geniuses. 

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