New here. My son has the classic symptoms for DMD, have been trying to figure out what was wrong with my boy since he was able to walk, but everyone and every doctor told me to stop worrying, that he was a normal boy and it would correct itself with time. well... He started going to Early Childhood Special Ed for PT and the PT saw that something was wrong and pushed me to keep looking around and find answers.
Last wednesday we had blood work done and his CK levels were 11,000. This coming Thursday weve got an appt with a Ped. Neurologist.
Still kind of numb, but wanting to connect with those in SWMO Joplin, Springfield area. If you are or know anyone please let me know.
Also I've been wanting to joing a running group, i have this new found motivation to run and work out again and what better way than to run for my son.
Dawn, Janine is right, Ann Martin (firstname.lastname@example.org) at PPMD is a licensed genetic counselor who can help you interpret the results. Although the diagnosis is never a good thing, a premature stop codon mutation may give him several options for drugs that treat that kind of mutation. The first drug ever approved for Duchenne, Translarna, falls into this category (it was approved in Europe and the phase III trial is underway in the US now) and there is a new generation of drugs that work in similar ways in development now. Let me know if you need any help getting answers--November does seem like a long time.
So ataluren (new brand name Translarna) has been approved in Europe but I don't think even the Europeans have access to it yet because each company's government has to decide if they are going to pay for it. I don't know if there is a route for people outside of Europe to get the drug but I'll see what I can find out for you. The other challenge is that you will probably have to pay out of pocket for the drug since it's not yet approved in the US so the cost might be an issue as well. I don't think you are the only US parent asking these questions so I will see if there is something we can post for everyone's benefit.
Much thanks for yr attention. My son gets stop codon mutation. I am following how to access the drug. Seems only citizens or residents in EU countries can access only. Pls. help to find some way even if we shall have to pay from our pocket. We are living in Vietnam - Asia, so the chance seems smaller than US people.