Sunday, March 11, 2012

What is SMARD?

Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) is a neuromuscular condition causing weakness of the muscles. SMARD is caused by mutations on the IGHMBP2 gene. It is a motor neuron disease, meaning there is progressive destruction of cells that control motor function. The predominating symptom is a severe respiratory distress due to paralysis of the diaphragm. Most patients present at the age of 1 to 6 months with respiratory failure and progressive muscle weakness with predominantly lower limb muscle weakness. Cognitive function is unaffected. Like all motor neuron diseases, there is no cure.

The gene for SMARD is passed from parents to their children, but SMARD can only affect a child if both parents carry a defective gene (this is called an autosomal recessive pattern). My husband and I are both carriers of the disease, and our children have a 1 in 4 chance of being affected by SMARD. Testing is done through bloodwork and was, until very recently, unavailable in the United States.

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. Nate's doctors had never even heard of SMARD until I asked for him to be tested for it (I heard about it from another trach mom). From what we know, there are only about 50 cases worldwide.

In spite of all this, there is hope for SMARD kids! Two doctors at the Jackson Laboratory in Maine are studying the disease and are making some headway. It is amazing to think that a treatment or even a cure could be discovered in Nate's lifetime! However, since SMARD is so rare, there is very little money to support their research. They need continued funding to be able to advance their research. Nate and his SMARD friends need your help! To learn more about donating to SMARD research at the Jackson Laboratory, click here.

7 comments:

  1. I LOVE THIS BOY! He is adorable!

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  2. He has the most beautiful blue eyes ever! I'm sure it's a relief to finally have some answers and I pray that those doctor's can make progress on their research. You can tell that he is a very smart, loved little boy!

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  3. I'm glad you were able to find out what this is that Nate has! I would love to see him in real life again! It's probably been about a year and a half since I last saw him! At least!

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  4. I'm so glad you were finally able to get a diagnosis. He is so so handsome and looks so sweet. You are all in our prayers. Xoxo

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  5. Annie you are so awesome. I love little natey. He is the cutest boy ever. XOXO

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  6. Well, you know I'm already working on bustin' my butt to get some awesome fundraiser going. Let's do what we can to pump money into that research! About 5 years away? Seriously, that is a miracle worth working for. Love you all.

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  7. I'm also glad that there is a diagnosis. Bittersweet for sure, but I can tell Nate is a fighter and so are his awesome parents!! You'll be in our thoughts and prayers. Love your cousin Kristina and family

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