Help! My son, 8, was just diagnosed with Duchenne yesterday. I need support and people to talk to. Can anyone help me out.

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Hi irishgirl. I am sorry to hear about your son. I am also pretty new here. My son was diagnosed on Halloween last year, he was 14 months old then. It is a very scary time for you as you will be bombarded with information and different feelings, but you have come to the right place. There are people on here who know so much and offer great advice. I am sorry you had to find us but glad you did.
Hi Irishgirl

I am so sorry to hear about your son. We came to know about our son last July. It is a very hard time. Everyone in this community understands what you are going through..and I wish there was a way we can make all this go away. We are from VA. If you wish to talk, please let me know.
Hi Godbless & Jessica:
Thaks so much for your replies. I have found that a great many people just don't get what we are going through - those that don't know. I was one of those a month ago. Our docs at Children's are fab, but somewhat baffled by the fact that our son - at nearly nine years of age. I look at him and see the Gower sign and slow running, but not too much else. He has worked with therapists and can do so many things at then end of this school year that he could not even come close to doing last year. One year ago, we went to the first pediatric neurological because we noticed that Liam, when in first grade was unable to ride his bike without training wheels. 90% of the other kids at the party could with ease. Liam rode, but was nervous. We went to the first neurologist and we were sent on our way with a diagnosis of motor apraxia - no blood tests at all. He was a pediatric neirologist for goodness sake and missed everything - but there was nothing to really see, I guess. Either that or he was totally nuts. Through this past school year, Liam had been working with therapists. We build him a climbing wall and last year, he was totally unable to even get up the first step. Now, he can fully go side to side on the thing. He can hop and jump - but with less agility than others his age without MD. He can get up in non-gower sign although that is the most easy way for him. He can cmfortable hike 2 miles in the mountains here in VA. But then a month ago, the physical therapist at his school thought it may be a good idea to just get a second opinion and she directed us to Children's Hospital here in DC and the local MDA clinic. The first doc checked him out and following protocol ordered full blood work. Everything came back normal except for the serum CK - which came in at a whopping 14,000. The next step int he protocol was the genetic testing. Once we heard the high CK, we started researching everything associated with a high CK level. The Duchenne type did not fit Liam at all. He doesn't fall down, he goes up stairs easily two footed although he can do it the way we do. He loves swimming and never tires or fatiques. By the same token, Liam did not fit the symptoms for Becker MD with the onset coming in too early in life. I searched and searched for something. Then the doctor called with the results. The missing exons 48, 49 & 50. The doctors were actually surprised to tell us Duchenne. It's somewhere in very mild Duchenne or Severe Becker. But the guess the missing exons don't lie. I am starting to come to terms with the facts of all of this. I am scared for our son, but it could be much worse and we are so fortunate to have him with us right now as he is an amazing child. I will always hold out for hope - especially in the PCT124 trials. Can anyone tell me more about that? Can anyone tell me anything about other hopeful trials I should be aware of? We are so early in this process and are trying very hard to keep it as normal as possible around here, but take great stock in the fact that we have a healthy boy now. I read other sites saying those with Duchenne live to be 15 and that scares me very much. Does anyone fully believe that a cure will come out in the next few years? I've also read about steroids - which we will be starting Monday as a preventative measure although Liam's disease appears to be very slowly progressing. Do children really get "fat" on prednisone (Spelling??) I worry that if he gets fat, that will hurt his muscles. The BIGGEST question is has anyone experienced personality/behavorial chances in their child while one the steroids or is that a fairly rare side effect? Do children get puffy in the face and get a hump on their back while taking this drug? I am so sorry for the book here, but I was to ask those of you who really are kindres spirits with me in this MD struggle?
Once my initial shock wears off, I will be much better.
Thanks somuch for your emails and I look forward to many m
Irishgirl

I am so glad to hear that your son is doing good. Since he has 48-50 missing (deletion), he will benefit from exon skipping trials currently underway for skipping 51. So definitely a good thing.

Now as per Childrens DC, we started @ childrens but sooo glad we went to see dr Wong fro a second opinion. Because of her comprehensive team approach, we came to know other issues like low Vitamin D, abnormal heart beat etc. 1 year back, my sons CPK was 15K and he was able to get up without gower and he would not fall without a reason. We tried homeopathy for about 6 months and srated him on Defalzacort in this May. Now in close to 8-9 months, his CPK went up to 30K and we strated seeing almost all of the DMD symptoms.

The research/latest news section has good information on current therapy strategies/trials. As per predenesone, Dr wong advised Defazacort. Basically same like Prednesone with fewer side effects like less weight gain etc. So we chose Deflazacort.

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Godbless:
Thank you for being out there. How old is your son? Were you surprised that once your began the steroids, the DMD symptoms come on so quickly? I thought the steroids were to help prolong progression? I am scared of the predniscone drud because of the slight risk of personality changes. On the Deflazacort, did you notice any personality changes? And are you worried about the cateracts side effect? How do you get this particular drug? I'm sorry for all the questions, but this is all so fresh and new to me.
Irishgirl

Sorry for the confusion. When I was talking about 15K to 30K deterioration, that was before the steroid. we only started steroid in May 2008 and seeing some improvement in strength. No behavior symptoms as of yet, but then again he is on steroids for only 1.5 months now. He is currently 7.3 years. When we found out 1 year back, DC MDA camp docs felt he was too good to be DMD as he could do very well in tests. But it only took 6 to 8 months for all the DMD symptoms to start showing. In retrospect, I wish I would have started steroid sooner! Now as per side effects, we all worry about those. But as of yet there is no other drug that can prolong quality of life for the DMD kids.

You need a prescription for Defazacort and is not available in USA. We order online. I would recommend having a discussion with his primary neurologist about predenesone vs defazacort and make an informed decision. As I indicated in my previous email, we go to Cincinnati to see Dr Wong and her team and feel like it is well worth the extra travel!!!! They are very very good.
Hi there,

Sorry to hear your news, but it is great to see how well you are taking it, and your enthusiasm to find effective treatments early in the diagnosis.

We have a 10 year old with severe Duchenne (stopped walking at 7) and he was on steroids from the day he was diagnosed..... my only advise to you is to avoid preservative 282. We have noticed a lot of boys on the steroids become more hyperactive, and our little one even started self harming - it was a nightmare, but then we cut out 282, and life went back to normal (well as normal as our life could be given the circumstances).

We did prednisolone for 18 months (Deflazacourt was not available in Australia at the time) and we did find our son showed signs of Cushingoid - and yes he did gain weight, however at the time no-one was concerned as he was underweight to begin with.

I think the best advise we were given at the start of our journey was to "make the best decision with the information you have at the time - and if later it turns out not to be the right one, don't hate yourself - you did the best you could at the time". This is so important with Duchenne as the whole disease is a contradiction of treatments and not even specialists always agree.

Just remember you are not alone and everyones journey is different, but it is always nice if you know you have friends you can call on if ever you lose your way :-)
I'm so sorry for your news yesterday. I remember that day last year when it happened to us. I know what you are going through. What deletion does your son have? My son is missing 53-55.

Jessica
Julie and Jessica:
Liam's deletions are 48, 49 and 50. I am so new to this game still. Can you please tell me what PRESERVATIVE 282 is???????? I really feel uninformed. I also do not understand why my son, at 8.5 years of age is still getting stronger? For the past full year he's been working with an OT and his school's PE teacher who comes over twice weekly for workouts. Last year, we thought he had motor apraxia which turned out to be a joke of a diagnosis. Liam just finished 2nd grade where he kicked butt verbally on standardized tests - he is working exactly where he should be. He is very bright and energetic. But last year, it was difficult for him to jump with two feet in place. Today, we make these obstacle courses - per Liam's request, which include climbing up stuff like three foot mats, playing hockey in the yard, bouldering on a climbing wall - which we stopped unless he feels like it, and jumping - of which he can now jump with two feet upwards of twenty times. I just don't get this disease. Is this how it works? Liam wants to get stronger, he says and we keep active now, but don't push because we don;t want to hurt his muscles. He loves going for walks and hikes in the mountains, but when I read other stories, Liam just doesn't fit the DMD bill. He was never a floppy baby, help his head up strongly at two weeks. Walked holding onto to our fingers at nine months, but officially on his own at 16 months. He never fell down just because. The doctor said today Liam does have tightening in his ankles, but does not and has never toe-walked. I really don't think I'm in denial, but I just do not get it. I had a mother call me up from our MDA clinic asking if I wanted my son to meet her son who is 12 and totally immobile - and been so since he was 10. He was diagnosed with DMD at age two because he fell down all the time. I cannot see and comparrison or any reason to take my son to see this child. I refuse to take my kid's childhood away. Or scare him. Liam knows he's got a muscle weakening disease called MD and he gets info on a need to know basis. If he asks me if he will die from this, I would say no - I do not know what the future brings. Eventually, we all die. I try to instill in him the fact that his father and I are "sure things." We will love in no matter what. We adore his mind and his spirit. Gut instinct, allow him his childhood and don't take him to see a wheelchair ridden and some what unhappy 12 year old - according to his mom on the unhappy part. I do not believe Liam will he as this child is at age 12. If he is, we will deal then, but why scare him now. Liam is very computer/internet savvy and I'm sure at some point will begin looking up this stuff himself. If he comes to me and asks me about the DMD symptoms, I will say, I see some of those symptoms in you - gower sign - but they are late incoming and you can do so much more that what you see on the internet. I pray to everything that this is a very mild or less benign Duchenne - to even a Becker MD. We will be attending a conference in July in PA - any of you planning on being there?
O.K. - Is this how this DMD works? I do not know and am I wrong to think Liam will not be in a wheelchair by age 10? Also, what is Cushingoid?
I feel our care here at Children's in DC is wonderful with an excellent support group. Dr. Leshner, Liam's doc works closely with Dr. Hoffman - a major genetic research man working on the exon skipping thing. He is also at Children's here in DC. I really don't think putting Liam through a muscle biopsy at this point will really do anything. He's got what he's got and I will put him through it for any trial coming down the road, but why do it twice?
Now, I find you all so incredibly helpful and I'm sorry that I may be asking stupid questions, like what is Preservative 282. If you think I'm taking this well, I don't feel like it. I try to hard to not cry in front of Liam. I must be strong for him. We are so extremely close that he will know I'm worried. If I'm downstairs and hear a crash, Liam hollers down, "I'm O.K." before I come running. We worries about us. Currently, he is our only child and I have cried so much my eyes feel like water balloons. I'm so scared I will miss something, so I appreciate you all so very much. Hopefully, in the near future, I can become the strong/ courageous mother's you obviously are.
Noreen
Godbless:

Hello:
Since you live in VA, I am just curious about your travels to Ohio and Dr. Wong. Is this Dr. Wong your son's doctor or do you see another in this area on a regular basis? Were you unhappy with Children's in DC, if you went there?
Thanks
Noreen,
Every DMD boy will progress differently. Some faster than others. It sounds like your son has a very slow progression. That's great! We see Dr. Wong in Cincinnati (we use to live there), but I've also heard great things about Children's in DC. If we didn't already go to Cincy, I would definitely consider DC for my son's care. And don't feel bad about feeling behind the curve. We've has Sam's diagnosis for 3 years now, and I'm still learning (such as I'd never heard of the preservative 282 either). My husband and I will also be attending the conference this July. It will be my 3rd and his 2nd. I hope I get the chance to meet you. You can see in advance what I look like from my pictures on my personal page.

Oh, yeah, cushingoid is what can happen to the face when taking steroids. It's also called "moon face". Steroids can cause water retention (which is why we watch salt intake). Not all boys have this side effect. My son, Sam, does not.
Laurie:
Can you letmeknow what the preservative 282 is - is it in foods that we should avoid? I am probably way off base here, but I have no idea of what it is?
How old is your son and how is he doing? He is adorable!!!!
As it stands right now, my hubby, Matt Chambers will attend the conference. By all means, please look for him. We can provide more information at the date approaches. I have an aunto and uncle with whom he will stay. Liam is enrolled in a summer camp for that full week and doesn't want to miss it, so we thought I would stay back with Liam. Trying to keepthings as normal as possible. That and I'm not ready to show the more severe DMD kids/men to Liam yet. He doesn't need to see that right now - I will not allow his childhood to be taken.
Thanks for provided me with information - it helps more than you know - actually, I think you do know.
Noreen/irishgirl

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