Latest Activity: May 16, 2018
Started by Archana Maringanti. Last reply by Jay Griffin Apr 6, 2016.
Started by Archana Maringanti. Last reply by Archana Maringanti Mar 29, 2016.
Started by Corinne King Mar 5, 2015.
Hi, Amelia, thanks for your response. I am sorry to hear for the diagnosis and I am glad that he is doing fine. My son's CK levels were 31475 and now they are 29500. Way too high, I guess. I feel hopeful because they are going down, but I don't know what to think anymore. Thanks. You take care!
Hello, Amelia, I know this is an old post, but I was just wondering how are you doing and if your son got diagnosed with DMD or BMD. Can you tell me how much his CK levels were? My son also have a nonsense mutation, but on exon 25, which is also an in-frame exon. He was diagnosed with DMD.
Im only kind of guessing here, but I was doing some googling and research and its a possility the stop codon for my son Hayden is in exon 27. Now im not 100% sure, but anyone or their child have a stop codon there?
Thank you Ann, I guess I will wait until next week after we meet with Dr. Wong so I will know more specifics. Does anyone know what questions I need to ask? I have several written down , but IM sure im totally leaving many questions out cause I just don't have a clue what to even expect.
I apologize for the late response. I was out of the country for a meeting last week and I am trying to catch up on my emails. I wanted to let you know that you can call me (201-937-1408) if you have any questions about your son's genetic testing or what this means for other family members. I'm a genetic counselor at PPMD, and I coordinate the DuchenneConnect Registry. If you haven't already registered your son, I encourage you to do so. The website is www.duchenneconnect.org. If you prefer to wait until after your appointment with Dr. Wong, that is perfectly fine. Please feel free to contact me with any questions or concerns.
Ann Martin, MS, CGC, Genetic Counselor and DuchenneConnect Coordinator
Amelia - Becker is a possibility. My son also has a nonsense mutation (a splice site substitution at an intron, so a really weird one). Obviously I don't know any of your particulars, but my son was a confirmed Duchenne diagnosis for 5 years before we had a muscle biopsy showing in fact it was Becker. We are going on 11 years old now, and he is still climbing stairs, running around with friends (albeit more slowly), etc. Each child is different, and presents differently, even those with the "same" mutation. But I could not agree more with the suggestions to live in the now. We have chosen to answer anything our son asks whenever he asks it. It shows he is ready to hear the answer. We don't really think about the future and what it will bring because we are too busy living our lives we have now. Good luck with everything.
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