CureSMA - Charlie's Run | Daily/Weekly Thoughts
Daily/Weekly Thoughts

CureSMA - Charlie's Run

Cure Spinal Muscular Atrophy

Did you know that August is SMA Awareness Month? Did you know that on Sunday, August 7th Alisha, Josh and Emmett will be participating in Florence & Charlie's 10K run to END SMA. Charlie is a beautiful little girl who was diagnosed with SMA when she was six months old - she is now seven years old. Florence was four years old when she lost her fight with SMA in 2015. This is the second annual run and is honouring one of Emmett's friends, Atticus, who joined his Creator earlier this year. We are also thinking of Addison and Emma, two more of Emmett's friends who fought so hard and well but have left us too soon. These little ones are missed so much and that is why we must support the search to CureSMA. Emmett will be supporting his parents in this run, but maybe not the entire ten kilometre distance.

You probably didn't know that this week Emmett will be back at BC Children's Hospital. He will be going in on Tuesday and on Wednesday he will be undergoing the procedure for the final injection of the ENDEAR study of the Nusinersen drug developed by Ionis Pharmaceuticals. Biogen and Ionis announced today that they are proceeding to commercialize nusinersen "globally" - based upon the success of the tests. While the ENDEAR study will be stopped, all participants will be able to transition into the SHINE open-label study in which all patients receive nusinersen. Emmett was already signed up to move to the next phase, so this is exciting to see. [See http://ir.ionispharma.com/phoenix.zhtml?c=222170&p=irol-newsArticle&ID=2191319 ]

 

Emmett has a wheelchair accessible van! More about this fantastic 'new to this family' van soon, but it is amazing to just wheel the chair in. Of course, not with Emmett driving. Sorry, it's not the tractor! Pics soon!

 

 

FACTS: about spinal muscular atrophy

  • 1 in 40 people carry the abnormal gene that causes SMA.
  • Carriers show no symptoms and are not sick.
  • Spinal Muscular Atrophy is the leading genetic cause of death in babies under the age of two.
  • Often families have no history of the disease.
  • This worldwide genetic disease is does not affect intellect, but lack of muscular development is debilitating.

 

 

Comments

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Guest Comment 1 year ago
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Brilliant news re: the trial, and the van! And good luck to Emmett and all in the run ("wheel"). - Richard W
Guest Comment 1 year ago
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So appreciate these updates! Exciting to share with you in the small victories. Emmett and each of you is in our prayers and thoughts. Have fun at the Aug 7th SMA "run"! Uncle Greg and Aunt Mary