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Early Years (diagnois-age 6)

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Early Years (diagnois-age 6)

Members: 174
Latest Activity: Feb 14

Discussions

Study of DS-5141b in Patients With Duchenne Muscular Dystrophy

Started by Archana Maringanti. Last reply by Jay Griffin Apr 6, 2016. 1 Reply

Which exons are to be skipped for deletions in exons 46-47 ?

Started by Archana Maringanti. Last reply by Archana Maringanti Mar 29, 2016. 2 Replies

Exon 50 deletion?

Started by Corinne King Mar 5, 2015. 0 Replies

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Comment by Amelia on November 27, 2015 at 4:43pm
In all honesty from what I've learned cpk number doesn't really tell you much except that he has muscle damage. Doctors usually use it for diagnosis and that about it. Now when we first seen Dr Wong she did take in account his lower numbers , no family history and his physically symptoms and assumed it was Becker. We did a muscle biopsy to confirm.
Comment by Hope on November 27, 2015 at 3:53pm

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!

Comment by Amelia on November 23, 2015 at 3:49pm
Hi. He was diagnosed with Becker. His first ever cpk was 8000, 2nd one was 5000, and when tested at Cincinnati children's it was 3100. He doesn't have many symptoms right now.
Comment by Hope on November 23, 2015 at 3:24pm

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.

Comment by Amelia on November 19, 2014 at 9:08pm
Had our first visit at the Cincinnati Children's hospital. We saw physical therapy, dietician. He had an echocardiogram , EKG, and a dexa scan. We still don't have an official diagnosis we will get that tomorrow when we see Dr Wong and Dr Tian. Physical therapy did a North Star assessment.
Comment by Amelia on November 17, 2014 at 5:34pm
Hayden has a nonsense mutation in Exon 28 , if I read it correctly that is in-frame. Anyone else with this?
Comment by Amelia on November 15, 2014 at 5:59pm

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?

Comment by Amelia on November 10, 2014 at 3:03pm

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.


Staff
Comment by Ann Martin on November 10, 2014 at 1:57pm

Hi Amelia,

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.

Best,

Ann Martin, MS, CGC, Genetic Counselor and DuchenneConnect Coordinator

Comment by Allyson on November 3, 2014 at 2:12pm

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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