still waiting on official diagnosis
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.
Replies to This Discussion
-
Permalink Reply by Keith Van Houten on
-
I believe Karin Kattich is in that area. Are you on Facebook?
-
Permalink Reply by Karin Kattich on
-
Yes, I am in Missouri, about 50 miles NW of St. Louis. Please feel free to send me a fb friend request!
-
Permalink Reply by Brooke Lyons on
-
Praying for your son, and your strength as well.
-
Permalink Reply by Sharon Hesterlee on
-
Hi Dawn, when you get the results let us know--we are here to help!
Sharon Hesterlee
-
Permalink Reply by Dawn Jones on
-
Went to the Neurologist today and he's pretty sure spencer had DMD, we're going to do genetic testing sometime next week for both spencer and I.
-
-
Dwan, how old is Spencer? There are going to be multiple clinical trial opportunities in the near future-- you may have to travel a bit to participate, but there will be options. The genetic testing will be important because some of the therapies in development are for specific genetic mutations while others could benefit any boy.
Sharon
-
-
Spencer is 3, he'll be 4 in July.
-
-
So he would be too young for most trials but there will be some coming up soon for the little guys. Hang in there!
Sharon
-
-
It's official Spencer has DMD but it's not a deletion or skipping of the exxon, but an alteration resulting in the stop codon. This particular type isn't genetic right? Or is it? The dr didn't say anything about us getting genetic testing done, but now i think i've confused myself. Anyone know? Or care to educate me?
-
-
At a very high level, a stop codon is one of the types of gene mutations that cause duchenne. It's about 13% of cases. A drug called ataluren is in clinical trials and is targeted at for stop codons.
-
Permalink Reply by Janine on
-
Dawn,
All of the types of mutations are caused by a genetic flaw on the gene, so yes it is genetic. There is an MDA clinic in Joplin but a quick look does not list a genetic counselor there. I'm sure the genetic couselor at PPMD ann@parentprojectmd.org could answer any question you might have about carriers.
http://mda.org/clinic/mercy-hospital-joplin
-
-
The mda clinic in joplin is closed. I have an appointment sometime in november? I don't know how I feel about having to wait so long. But whatever.
© 2021 Created by PPMD.
Powered by
Badges | Report an Issue | Privacy Policy | Terms of Service
