Early Years (diagnois-age 6)

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Early Years (diagnois-age 6)

Members: 174
Latest Activity: May 16, 2018

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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 3, 2014 at 1:54pm

What about the possibility of becker? Is there a chance he has bmd and not dmd?  They didn't really say only thing I know like I said before is the nonsense mutation.  I am just so ready to get an official diagnosis in this all.  The first high cpk was in august so its been a very long few months just waiting waiting.  I was surprised we got an appointment in November was afraid it would be into next year before they got us in. 

Comment by Susan Parzymieso on November 3, 2014 at 1:37pm

None of us ever suspected DMD, either.  My son also has a nonsense mutation.  I am not aware of any FB group for that, as aside from some clinical trials, in practical day to day terms, there is no difference between the nonsense mutation and the other many types of mutations.  There is a DMD Moms group on FB that you should check out. I don't know if there is a FB page for DMD and diabetes, but if you join the DMD Moms group, you can ask your diabetes questions there and you will get lots of support. You are lucky to be close to Cincinnati and Columbus -- the hot beds for DMD research and treatment.  I have not been to Dr. Wong, but highly recommend Dr. Flannigan at Nationwide in Columbus. 

Tammy Henegar, thenegar2000@hotmail.com, is a mom in Ohio who runs the PPMD FACES group (Families Advocating Connecting Educating and Supporting) -- that looks like the closest to your area (but my geography could be way off!)  There is a FACES page on the PPMD website that lists all of the coordinators and has links to our FB pages.  I am a co-coordinator for Western NYS.  send Tammy an email or connect with her on FB.  We coordinators are here to help our families.  She would welcome you!  Let me know if you need an introduction.  You can also send me a friend request.

Comment by Amelia on November 3, 2014 at 1:17pm

I live in Western Kentucky, in a small town of Clay.  Is there a fb page for muscular dystrophy and tyoe 1 diabetes.  Is there others or a group with nonsense mutations, or will I need to wait to find out more then just that cause that's all the info I have really.  I never in a million years even thought the reason he is slower would result in muscular dystrophy. 

Comment by Susan Parzymieso on November 3, 2014 at 12:57pm

You are not alone!!!  It is very easy to get overwhelmed. But, the Duchenne community is really a family and we are all here for you as much as you want us to be!  it sounds like you are doing a great job gathering your questions.  That is the important thing! Check out FB -- there are many other families out there who have sons with diabetes also who can share their story on what they did as far as steroids.  Also -- feel welcome to give PPMD a phone call.  There are people there who can just talk with you and your unique concerns to help you really be prepared for your visit with Dr. Wong.  where do you live?  If you are interested, I could try to put you into contact with a local famly.

Comment by Andrew Kerr on November 3, 2014 at 12:56pm

Amelia...

It's very overwhleming at the start, it really is.  I'm sure everyone here would agree.  Take your time though.  There's no need to rush into anything right now.  Talk to Dr. Wong (who I've heard great things about) and ask questions.  There's a lot of information available, and it's very difficult to absorb all at once, fortunately at 5 there's not too much to deal with right away.  Steroids are usually the first thing, though I'm not sure about the effects with respect to diabetes.  The physiotherapist might suggest some stretches as well.

Our boys are turning 9 &6 in the next few weeks and they're daily lives aren't much different than other kids their age, they just have trouble keeping up out on the playground and such.  There is a lot of research and potential trials coming in the near future, so there is also a lot of hope.

Comment by Amelia on November 3, 2014 at 12:51pm

Also to had to this is he also has type 1 diabetes which I have read that steroids can cause insulin resistence which would result in much higher numbers.  At this point in time he is very active the only real noticeable thing he is slower then peers.  He can climb stairs and go down them fine, and does not use the gower maneuver at this point.  Ive read and researched all I can and finally have come to a greater peace about it all.  Yes its very devastating and I am focusing as much as possible on the here and now not the future.  We got our appointment with doctor Wong today and will be going Nov 19 and 20th.  Very nervous but ready to get official test results and know what the plan of action is from here.  Thank you for replying.  I feel lost in all of this.

Comment by Susan Parzymieso on November 3, 2014 at 12:24pm

Amelia,

Don't get too concerned about the CPK -- they are just indicators and so far there is no true meaning to the level other than to indicate that your son has DMD, which you already know.  I assume you had the genetic testing performed, which is how you know he has a nonsense mutation.  Knowing your son's exact mutation is very important -- not so much in terms of the severity of the disease or its progression, but in terms of knowing what research studies and clinical trials will be best suited for your son.  So far, science has not been able to assign any particular characteristics to a given type of mutation.  Likely there are other genetic modifiers that we do not yet know about that explain the variances between our sons.  With the exception that there is a correlation between mutations in the higher exons and cognitive/autism/spectrum issues -- but again, not a certainty.  Dr. Wong will explain everything to you and answer all of your questions when you see her.  In the meantime, read up as much as you are comfortable with about the early years -- treatment, therapies, research, school issues for the little guys.  Stay away from the older stages.  You will have plenty of time to focus on that when you are ready.  You don't need to go there now. Just worry about helping your son today.  Dr. Wong is a big proponent of steroids, so do what you can to familiarize yourself with steroids so that you have lots of questions to ask her at your visit.  Also, if you are on FB, there are many helpful discussion groups that you may want to consider joining.  Some are closed, so others outside of the group will not be able to see your comments.  Good luck!

Comment by Amelia on November 3, 2014 at 11:24am

Im completely new at all this.  We haven't seen the doctor yet but we should be seenig Dr wong in a couple weeks.  The only this I really know is his Cpk was 8000 once and 5000 the second time.  My son age 5 has a no nonsense mutation and I have no idea what that means. Can anyone give me any insight on what we are looking at with a no nonsense mutation?  I don't even know what they means!

Comment by MEHMET ASIK on September 28, 2013 at 4:06pm

Hi. Who has a Exon 44 Deletion. We can discuus and give informations...

Comment by Preethi on September 5, 2013 at 7:52am
Nguyen Van: I know it can be hard to cope. And understand how you feel. We have no choice but to be strong and see what we can do right for our son. Like you said correctly take it one day at a time. I am trying to make more friends here in this group and still very new.
 

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