My son Luc was diagnosed with Duchennes only 2 weeks ago. We are in shock and struggling to come to terms with this. We wanted to get in touch with other parents who will know what we are going through.

Does anyone else have a son that was diagnosed this early ? 

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Hi Angelique,

I'm sorry you're having to go through this. My little one, Seth, was diagnosed at 6 weeks of age (we have a newborn screening process here) so I do know what a shock it is. He's now 3 and totally gorgeous.

Feel free to add me as a friend and message me if you want to ask anything.

Take care,

Lisa

 

Hi Angelique, I am so sorry for your diagnosis. My son was diagnosed at 3.5, but I know a family whose son was diagnosed basically at birth (very unusual for America).  You have come to a great place for support and to meet people.  We will answer whatever you ask and help in any way.  Also, make sure you call PPMD and get some of thier material. 

 

Where do you live?  We can hopefully connect you to someone close to you. 

The diagnosis will change your life, but it is not all bad (hard to believe, I know). Let yourself come to terms with it and reach out when you are ready and/or as you need.  Most of all make sure you are with a doctor who KNOWS Duchenne...most don't...even if they are a MDA doc, their specialty could be something else.  Our community can also help with that. 

I am in Louisiana....

Lori Ware

Hi Angelique:  I am the grandmother of two little boys with DMD.  My grandsons were diagnosed at 2 1/2 and 1 years old.  The initial diagnosis is a shock, and it is definitely overwhelming. They are now 7 1/2 and 6 years old.  They are beautiful, happy little guys and are still holding their own.   Stay connected to this site and others.  You will gather a lot of helpful  information from other parents.

 

Dear Angelique, I am so sorry to hear Luc was diagnosed with DMD.  My thoughts and prayers go out to you and James as you struggle to come to terms with it all and what to do next.  As you can see from being part of PPMD, you are not alone, and many of us have had to endure the devastating news of our son’s diagnosis.  I can truly empathize with the shock and grief you are experiencing at this moment, and how overwhelmed you must be with what to do next for Luc. Just know that everything does not have to be figured out today.  Our son was diagnosed at 2-1/2 years of age.  An early diagnosis allows you the opportunity to get informed and provide DMD related care for Luc early on that benefits him long term. There have been great strides these past few years in research and the development of new therapies and standards of care to treat boys with DMD.  There is hope for Luc.  Just know we are all in this together to support one another and to find a cure for this disease; the parents, grandparents, doctors, researchers, and of course, our boys. Tom

Hi Angelique, we don't often go onto the Duchenne Community site but I went on to ask a question today and saw your message about Luc's diagnosis earlier this year.  We live in Cape Town and our son Daniel was daignosed at 20 months.  Almost 8 years ago now to the day.  It was a real roller coaster wioth lots of questions and pain as we contemplated the future.  If it would be helpful to have a chat then drop us a note and we can even call on the phone.  I (Dave) am in fact going to be in Pretoria in 2 weeks time on business so we could even meet up if you like.  On the one hand it is a hard road to walk, and it feels like noone understands.  On the other hand we have a wonderful family life and great friends who walk with us.  As I said, drop us a note if you want to connect.  Dave & Sharon

Hi, our son was just diagnosed with dmd he is only turning 2 in october.

Hi Angelique,

Our boys were diagnosed at about 3.5 years and 6 months.  It started with an older nephew, about 7 at the time, who was diagnosed.  From there, I learned about the condition and realized there was a chance that his mother (my wife's sister) and thus my wife were potential carriers.  Long story short, my wife's CK levels were tested and gave inconclusive results.  So we had the boys tested and their CK levels were around 14,000 and 20,000.

Most people on this site have been where you are, including my wife and I.  Please, ask questions, share your story, vent your frustration.  In some ways, you've just joined a very large family that I've found supports each other very well.

Hi Angelique,

Our physical therapist hasn't recommended braces yet for either of our boys.  Our oldest nephew does, but that was only recently that he started that, maybe when he was 9.

As for your older boy, I'd say if he's keeping up physically with his friends, he's probably not affected.  Cameron is just about 4 and when he's around other kids his age, you can see the difference, especially with things like stairs.  You're fairly new to this, so you may not know about things like Gower's Sign.  

http://en.wikipedia.org/wiki/Gower%27s_sign 

Its certainly not a diagnosis by itself, but if you're son doesn't have to push off his legs to stand up, then he's not showing the weakness that boys usually start to show at that age.

I'm not sure how the health care system works in South Africa, but here (Saskatchewan, Canada), as soon as the first boy was diagnosed they wanted his brothers, and his mother tested.  It just kind of kept going from there.  

how old is Kai ?

Angelique Percy said:

Hi

I can get tested if I want to so I will get tested immediately. The dr has looked at Kai and says he has no symptoms.

Thanks for the info.

sorry i just saw that he is 4, if he is not showing any symptoms at age 4 he is probably fine! But good luck getting tested, and good luck with work :( it is not good that they are giving you trouble!

Sif Hauksdóttir said:

how old is Kai ?

Angelique Percy said:

Hi

I can get tested if I want to so I will get tested immediately. The dr has looked at Kai and says he has no symptoms.

Thanks for the info.

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