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Duchenne Parents

Members: 246
Latest Activity: Mar 12

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Duchenne specialist

Started by Kimberly Damron. Last reply by Claire Diemler Feb 22, 2012. 6 Replies

Becker Studies?

Started by Andrew Kerr Sep 10, 2011. 0 Replies

Nectar T

Started by farhad. Last reply by Jamie M. Jan 26, 2010. 3 Replies

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Comment by Kristin Linke on April 7, 2010 at 10:09am
Hello All,
My name is Kristin, my son Gavin (3yrs) was diagnosed with DMD, deletion of exon 52. I just received my carrier test results yesterday and I am indeed a carrier. After speaking with a genetic counselor, she had said that because of the lack of family history, No man, boy was affected by this disease in my family until my son.
We found out about Gavin's diagnoses by accident. He had stopped growing, which led us to the endocrineologist, she confirmed that Gavin had very little growth hormone and would benefit from growth hormones, but that his liver enzymes were elevated. We would need to get that taken care of first. We then went to a gastroenterologist that ran more test for his liver, which was fine, but that his muscle enzymes were significantly elevated. The doctor suggested lab error and had the test ran again. It cam back elevated again. We were then referred to a nuerologist who had genetic testing done for a dystrophy she suspected.
Gavin is a happy go lucky boy and while he didn't walk til after 16 months and wasn't talking much, we did not suspect anything. The only thing that ever striked us as being a little different was how muscular he looked. We mentioned that to the nuerologist and unfortunately what we mistook for muscle water pesudohypertrophy. He also runs with a waddling gate, it scares me when he runs because he looks like he is going to trip himself. Gavin also didn't speak more than 10 words by the time he was three. He has been in speech therapy and physical therapy since he was 2.5 years and after he turned three his speech was extremely better. Not exactly where it is suppose to be, but getting there.
Now that I have completely introduced myself, I am glad to have found this group. Emotionally I feel torn, not sure how to react. I do a pretty good job keeping it together, but most of the time I feel like crawling into a hole, hoping to wake up realizing it is all a dream. I am 3 month pregnant and very nervous that this child would have the same fate as Gavin. I don't find out the sex til next month.
Comment by damien lynch on February 11, 2010 at 11:17am
Hi Rebecca,
Thanks for replying to my message!! It certainly looks like large deletions like our boys are thin on the ground!!
Also, from what I have read and heard at conferences etc, the severity can be different form boy to boy with the same or similar deletions?? I havn't read anything about cardiac problems for certain deletions?, Dylans speech is slow and that is probably due to the detetion that he has?
Dylan is not on steriods yet as we want to give him time to develop his motor skills etc, and we need to ensure all his vacinations are up to date. We hope to go on steriods around August. He is a happy chap, his speech has being slow and he was hyperactive when he was younger and that is a concern for steriods??
I hope Milo is well as can be,
Thanks again for the reply..... Take care and thanks,
Damien
Comment by Rebecca Saulsbury on February 10, 2010 at 1:28pm
Hi Damien,
My son Milo (9 years old) has deletions 9 through 33. I don't know what you have found out yet but what I've sussed out is that the # of exons doesn't affect the severity. If you're driving along in your car and there's a road block, it doesn't matter if it's a little police line or a landslide, either way, you can't go through. That's how I think of a large deletion.
I haven't met many parents with kids with as large deletions as ours (maybe just a couple) so maybe there are not so many of us? I read one paper that showed evidence that there may be more cardiac risks for deletions of these exons (it might have been specifically 19 - 30?). I try not to worry about that too much. There's enough on our plates. Anyhow, I hope your family has all the health and happiness in the world.
Comment by damien lynch on February 10, 2010 at 8:26am
hi everyone, hope you don't mind me joining this post. I'm from Ireland. Our son Dyaln has a deletion of exons 16 to 43. He was diagnosed in April 2009. He will be 5 in May 2010. I'm just wondering is there anyone out there with boys with similiar deletions?
Comment by Misty VanderWeele on December 27, 2009 at 3:31pm
I was reading all the older posts when I was struck with a feeling of deep honor to have a place for parents to meet...very special. 13 years ago when my son was diagnosed was BEFORE the internet really took off, not sure what life would be like without this PPMD community site and the Duchenne Facebook groups sustaining hope would be very difficult...

Happy New Year Every One!♥

Misty V. (Luke's Mom)
Comment by Jamie M. on December 17, 2009 at 12:01am
I am so happy to have found this group.
Jamie M.
Comment by Tina & Darren Harris on December 15, 2009 at 1:13am
We are Happy to become a member.
Comment by Christos Nezos on November 25, 2009 at 2:22am
Hello everybody,
My son Panos will turn 18 next month. He was diagnosed at age 18 months with Duchenne, is on Deflazacort from1998 ,is in a power chair since November 2006 and is attending Athens Greece Univercity.
Comment by Christine Stalling on May 4, 2009 at 7:43pm
I am a single mom to Cory who will be 9 in June. I live in a small city (Missoula) in Montana and have found very little help through the medical community. MDA was able to Dx in January, which was a labyrinth in itself; the genetics test showed deletion of exon 45. The problem is, MDA provides quarterly clinics in Missoula but the last one was not at all useful. How do you find a good community of practice to walk you through this minefield? I have had very little luck finding anyone who is actually familiar with the latest care for MD boys. They tell me, "he looks great considering his age, you might want to get an ekg during his next ped. visit, and we'll see you next quarter." I see much discussion about steroids here, these doctors barely mentioned them (and I am on the fence about their use anyway although discussions on this site certainly is a lot of food for thought), and I brought up PT and they told me to help him stretch for 3 min., 3x/day. I have been reading so many other posts that talk about an entire cadre of doctors and specialists with whom they work and I am so scared I am not getting the best possible care for my boy, I know I am not. I don't know where to turn for better medical care. I will travel to get my son into a more holistic program, just not sure how to even get him into a place if it is outside the state. Don't you need a doctor's referral? Any thoughts or advice would be most welcome.
Comment by Nicole Chiaramonte on February 25, 2009 at 9:36am
Hi Jo-Anne
I have had a second opinion. Both of his neur. one he sees outside of the MDA and she said that he was and then last week we went and seen the neur. at the MDA and he said that he might be and he did up his dosage of prednisone. But said that he probably will not up the dosage again for a while. Because when we start and the lowest dosage and now he has gained a little weight. So I guess we will see what happens in the next couple of weeks.
 

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