Replies to This Discussion

Permalink Reply by John R Henderson on November 23, 2009 at 6:35am

Hello Lisa,

I think I can offer some encouragement. We have a 5 year old, Cameron, who has a close deletion - Exons 46 - 50.

He does not appear to have any major problems, and is a happy, impetuous, challenging 5 year old ! He was only diagnosed in July of this year - largely because he was showing some movement difficulties.

Action Duchenne (formerly PPUK) produced a good booklet (which I have currently leant to his school) about what is "typical" for a DMD child, and how primary school and the primary care Child Health department will interact and assist.

At this point I would not worry too much (easier said than done I know !). Cameron is very happy at school, and while he may take a bit longer to "get" something, he is quite normal - and very quick verbally ! I think that the booklet (from Action Duchene) is pretty spot on when it says that most DMD children are not deficient in abilities, they are just delayed (typically by 1 - 2 years I think).

If you want any more information feel free to ask.

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Permalink Reply by RAKTIM SINGH on November 23, 2009 at 7:29am

Hi Lisa,
My kid is 5.6 years old. He has exon 46 to 50 deletion. Very happy,naughty kid and I am proud being his father. He keep on asking lot of question about almost everything in the world. Very cheerful. We discovered about DMD in this AUG ( as he used to complain about little pain in leg after cycling/take small support while climbing upstairs.)

His walking etc were delayed by certain months but otherwise he is like any other wonderful kid.

Raktim

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Permalink Reply by Jason G on November 23, 2009 at 9:10am

Josh is 7. He has a deletion of 45-50. Happiest kid in the world. No behavior or learning problems. We just got his diagnosis in July and were floored. We had no idea beyond he was a little awkward. Since then we have seen some decline - trouble with stairs and and getting up off the floor but Deflazacort has helped a bit. I'm amazed how he takes it all in stride. He's taught me to stop worrying constantly and enjoy life. :)

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Permalink Reply by Ian Anthony Griffiths on November 23, 2009 at 10:38am

Huge hugssss Lisa. I know i'm a bit older being 25 and all lol I haven't got EXON 50 missing, I dont have any behaviour probs well none I know of. I was really happy bright kid who knew how to count money lol I still am happy and funny, cheeky and a bit of an info nerd, made my website, im a digital artist, loving that. As you know I'm writing my book, and I'm loving poetry. I realise that life isn't about the material things, I get so much joy thinking of things and seeing the beautiful world (on the net, tv and in person), my loving family and my niece and nephew. Technology is brilliant and will help us lads with DMD even more! I know it robs me of alot but I find things to occupy me and I love a laugh. Those treatments are a hairsbreath away as well, the future always has oportunities. It deffo won't be easy but we are here to help. Since I worked on my spirituality and investigated the bible I feel increasingly happy.

I'll just leave you with this poem I wrote on FaceBook:

"think of the bee tending the flowers, the swift air racing by its beating wing, it doesn't cower, it just inquires, a desire for the nectar so we can live off the fruits of the world. Such a small creature made with love, it provides so much yet asks so little. A peaceful squadron on a mercy mission it never knew, for ...to a bee life is fleeting, it just enjoys the floral land feeding its family and serving its queen."

Take care!
xxx

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Permalink Reply by Joshua's mom on November 23, 2009 at 10:39am

Hi Lisa,
Joshua doesn't have the same deletion, he has a duplication. He too was diagnosed at 6 weeks old though. I think for almost a year, his dad and I went into mourning. We have sooo many pictures of his older brother when he was an infant, but very few of Joshua. I was thinking of almost nothing other than my child is going to die and I should start the plans for the funeral.
If you think about it though, when my son, and I'm guessing yours too, was diagnosed so young, they don't say anything positive to you at all. Most of all you hear (whether it's told to us or not) is the worst case scenario. You have already reached out for help though. There are so many people here with all kinds of kids and not all of them are the same. Just like you would find anywhere else except... we all understand.
Joshua was a happy kid and an easy going boy from the day he was born. He does have the ADD side-effect of his deflazacort, but not everyone will. So long as it helps, we'll deal with anything that comes a long with it. And it must be a mother's / father's instinct that will kick in and just do as much as you can for as long as you can. The future is later. You must learn to focus on today. Take care.

Naomi

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Permalink Reply by John R Henderson on November 23, 2009 at 11:48am

Hi Lisa,

Just to add to Joshua's Mom's comment - she is right in what she said about experience at first diagnosis - the health professionals tend to major on the worst case scenario.

They fail to tell you about all the cutting-edge research currently going on. There is lots of it, but most notably if Seth has a deletion of Exons 45-50 then (from my understanding) he stands to benefit greatly from the current work on Exon 51 skipping; Seth should require just a single skip (of Exon 51) to restore his gene reading frame.

Although Cameron's deletion is close (46 - 50) he requires a double skip (of 45 and 51) - so that will probably be a bit after you may benefit. But even if exon skipping has a set-back there are a lot of other promising things coming to fruition.

Also, although the diagnosis was early for you (most of us find out when the children are 4 or 5), take comfort from the fact that Seth is only 1 - there is time for these new therapies to come through.

John.

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Permalink Reply by Ofelia Marin on November 23, 2009 at 12:51pm

Hi Lisa,

We already talked and you know how Robert (deletion of exon 50) is doing now at 2 years old. He is very happy and showing no other symptoms except maybe a slower run then some other kids. Cognitively he is doing well, no problems noticed so far. One thing I wanted to mention here. If you read the papers written about cognitive issues in the DMD boys you can get very concerned. What I did notice is that they cannot explain why some kids with mutations in that area of the gene have NO cognitive issues while others do. Until they have enough knowledge to be able to explain these and many other things, I will not worry about those classifications based on small sample sizes and not being designed the best way in some cases (from a statistician's point of view). I think that there is a lot more work to be done in that area only to get to a level of understanding similar to how DMD affects the muscles (which as we all know is not perfect either). Don't read too much into it. It's pointless really, no one can tell you how Seth will progress in this area. He is doing so great now and that is what matters.

Ofelia

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Permalink Reply by lisa burke on November 23, 2009 at 12:53pm

Thank you everyone. You're all so kind. I do hold out a lot of hope for exon 51 helping Seth (and many others) physically. It's just all the other stuff I worry about on top. I think that, maybe if he were older when I found out, I could think "at least he's spared the behaviour problems or cognitive or social issues". Him being so young means we can't tell and, of course, due to having the diagnosis at all, I naturally fear the worst all the time. I so want him to be smart and happy and have a good life. But all I can do is sit and cry and worry all day.

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Permalink Reply by Allyson on November 23, 2009 at 1:47pm

Lisa, I think we can all understand the pain and sadness you are going through. It is quite normal to grieve the loss of what might have been. Joshua's mom said it quite succinctly, although I am not sure I was ever able to put it this way, although certainly deep down I felt it: "I was thinking of almost nothing other than my child is going to die and I should start the plans for the funeral." I still feel alone sometimes, like no one in my immediate circle of friends truly gets it, but then I remember that there are places like this to go to and read about what I am feeling and see that there are lots of other parents out there either feeling the same way, or who have found ways to overcome that sadness. I do not know anyone on this site personally, but I get a sense of optimism from many of their posts, comfort in learning what they know, and a general feeling of positivity to lift me up when I feel down.

Since his diagnosis my son William has started kindergarten, learned to ride a bike and is currently anxiously awaiting the arrival of the Tooth Fairy! We have traveled to Legoland in California, gone to the beach, and are hitting what seems like a birthday party every weekend for someone in his class. He has gone on steroids, and has learned to run faster and even jump - while he is still behind his peers, he can at least keep up with them more now than he could before. That alone is a great self-confidence boost for him, and is wonderful for us as his parents to watch. William is a very smart child, full of stories (some true, some quite fanciful), quite loud and very funny. He loves Legos, cars, watching TV shows about construction, and family movie night. We spend our time like any other family - going out to eat, going on vacation, reading, dancing and singing, jumping on the furniture, playing outside, etc. We discipline like any other family. We live like any other family I know, only on a slightly bumpier road. He understands at a high level what is going on, and when his curiousity gets the best of him we will answer him as truthfully as we can.

I think the key in my life (and we've only been in this "new" life for 1 year now) is to focus on the here and now, and leave the future for later. I do not live my life thinking about what will happen in 5 or 10 years. My son has had so many wonderful things happen to him over his life so far (he's only 5 1/2), and those wonderful things continue to happen even post-diagnosis. Please don't let your sadness overwhelm your ability to enjoy those wonderful things which will also happen to your son.

Everyone on this site is here for you.

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Permalink Reply by Veronica E. on November 23, 2009 at 3:50pm

Lisa,

I'm so sorry you're having a rough time right now. This is perhaps the one place where you can talk with other parent who may understand what you're feeling.

Max has deletions of 46-50, and my uncles had that as well. From my limited understanding, there can be quite a bit of variations in symptoms from one boy to the next, even with the same deletion, so I personally don't spend too much time on this topic. In identical twins, one boy could stop walking at 10 while the other is still walking at 12.

I have a little guy as well, and his 1st birthday was definately bittersweet. I think about him having DMD at least several times a day, but I try not to think about it too much and just enjoy moments with him as I did with my daughter. While I'm not always successful, I try not to think about the far-future these days since all it does is upset me. I actually will take breaks from reading this board for a few days when I get too down about the future.

I hope you enjoy his birthday!

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Permalink Reply by Perlita & Gordy Hains on November 23, 2009 at 11:29pm

My lil man, Levi does not have deletion but I can relate as we are fairly new to Dx. My heart truly feels your pain. I was there just a few short months ago; I could barely breathe. I had your same thoughts about future, funeral etc. I was doubtful I would I ever laugh again... boy was I WRONG - I laugh ALOT now. What really helped me was speaking to one special DMD mom, Jill Castle - look her up here. My husband & I attended PPMD world conference in June it was amazing! I recommend trying to get there. It's in Denver sometime June 2010. We have to learn to live for the day. And find JOY for our little men. It may not be the life we had envisioned but it will be better than what he think - lots of great things on the horizon.

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Permalink Reply by Barbara Niederhoff on November 24, 2009 at 11:33am

Behavioral & learning problems are no sure thing. My 6yo's deletion is 46-51 & he is a pretty smart, usually happy little guy. If he's got anything mental, it's a mild tendency toward OCD (certain things have to be just so). One of his sisters is just like that, too, so I wonder if she's a carrier or if we just have some other odd family thing going on there!

If behavior or learning problems do appear in your son someday, then you'll be able to find out the best ways of working with them, and you can probably also find a good local network of parents with experience you can learn from.

The first few months-to-year after diagnosis is really hard. I am shocked now that life seems more or less normal. Not normal in the same way as before, but normal in that we all get up, do our work/homework, have fun and make plans, and thoughts about the future are less obsessive and gloomy, but more practical -- things to "keep in mind" when we need them later.

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