Right, this is probably the totally wrong place to post this but I've run out of ideas of what else to do.
As my baby boy's 1st birthday approaches I am becoming increasingly low. I worry so badly about his future. Does ANYONE have a child with deletions in the realm of 45 to 50 who DOESN'T have any sort of behavioural/ADHD/ASD/autism/learning disorder? Anyone got a smart, happy kid? Will my son have all of these things or a few or none at all?
Can anyone tell me ANYTHING that may make me feel as though life is worth living or that the future won't be so bad??
I'm very sorry to ask on here as I know everyone else has their troubles but I just don't know what else to do to feel better right now.
Seth is my only child and we found out about his DMD when he was 6 weeks old through newborn screening. So far he's been an 'early developer' and shows no clinical signs of muscle weakness at the moment. But I can't bear it any more.

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Hi Lisa,
My son has a deletion of 49-50, and he has no signs of autism, behavioral issues/ADHD or ASD. He is in first grade, and slightly behind his peers in reading, but he is also a summer birthday, so who knows what caused that. He is a loving, smart, articulate, wonderful little boy.

This whole thing is so overhwhelming, and your son was diagnosed so young. That makes it tough. We had around 2 1/2 years before we knew - they are years I remember very fondly.

Whenever I think about the future or try to make sense of any of this, I go back to my husband's question - "why are you picking that scab?" I try to tell myself that my job is just to love him, and the rest of it is beyond my control and not worth thinking about. Sometimes it works, sometimes it doesn't.

If, by the way, you're thinking about having another child, and you need someone to talk to about your options, I'm happy to help. I went through two rounds of IVF with PGD to have our second son, who is healthy. I'm not a carrier, but I'm a germline carrier (it's in my eggs).

Oh - one other thing that made me feel better was watching Darius Goes West. Darius is such a cool kid with such great friends - it made me think about what is possible for Aidan should the worst happen.

And lastly, I think that your son needs to skip exon 51 to be ellgible for exon skipping. If I had a 1 year old who needed to skip exon 51, I would be thrilled right now, as that drug is moving to phase 3 trials in the US next year. Everyone - please correct me if a deletion of 45-50 isn't corrected with a 51 skip. If that is indeed true, you have much to be hopeful about.

Let me know if there's anything I can do to help. If you need to talk, you can give me a call (425) 747-8006.
Mindy
Thanks Mindy. You're very kind to send me such a positive message. And thanks to everyone else too. It means a lot.
Mindy I've added you to my friends list as I have some questions for you regarding PGD if you don't mind. Is it ok if I private message you?
You're right, Seth is 'fixable' by exon skipping 51. I really AM very positive about this, especially as he's so young. It's just so hard at the moment though. I just don't understand why this should happen to us after we tried so hard for a family and, of course, it's his first birthday tomorrow and I keep thinking about how happy I was this time last year....
Thanks again, though, to all of you who replied and have helped me to perhaps worry a LITTLE less.
Hi Lisa,

If it is of any help my wife and I had a consultation at the Genetics Department at Guys Hospital London a couple of weeks ago. They discussed Pre-implantation Gene Screening with us, and provided a leaflet. I'm happy to scan it and send a copy if it might be useful to you.

Best Wishes

John Henderson.

lisa burke said:
Thanks Mindy. You're very kind to send me such a positive message. And thanks to everyone else too. It means a lot.
Mindy I've added you to my friends list as I have some questions for you regarding PGD if you don't mind. Is it ok if I private message you?
You're right, Seth is 'fixable' by exon skipping 51. I really AM very positive about this, especially as he's so young. It's just so hard at the moment though. I just don't understand why this should happen to us after we tried so hard for a family and, of course, it's his first birthday tomorrow and I keep thinking about how happy I was this time last year....
Thanks again, though, to all of you who replied and have helped me to perhaps worry a LITTLE less.
Thanks John,
Your appointment wasn't on the 19th by any chance? If so, I might have seen you there!! We do have the leaflet, but thank you for your offer. I think I was just going to ask Mindy for some 'insider' info' as she's had the procedure. Stuff that the doctors don't always tell you. Like when one says "this may be a little uncomfortable" and you KNOW it's going to be cling-to-the-ceiling painful.
If you don't mind me asking, do you know if your wife is a carrier? I'm not, but the appt at Guys explained to me that it might be 'in my eggs'.
And if you also don't mind me asking, did your little boy develop 'normally' as a baby/toddler? Seth seems to be so far, in fact he's been early with most things, but it's a constant worry for me. He has just started having temper tantrums too (if the wrong shape won't go in the wrong whole, if he can't get through the baby gate, if he's left alone for a millisecond, if another baby is screaming etc) They're real humdingers but only last a few seconds. Do you think this is just 'one year old' behaviour? I so worry that it's the start of some terrible behavioural problem that'll see him a social outcast. I feel so stupid asking these questions, but I've never had a baby before, let alone one with a health issue, and I simply don't know what's Seth just being a baby or maybe DMD-related.
Hi Lisa, my name is Michelle and I'm John's wife. I, like you, have been finding this situation we have found ourselves in incredibly hard and this is the first time I have felt able to speak to someone else about it. We had our appointment at Guys on the 2nd Nov and I found out yesterday that I'm not a carrier. Its funny, family and friends all expect me to be greatly relieved and happy that I'm not a carrier but I can't feel happy as its probably 'in my eggs' too and if anything I find it even more unfair that its happened to my eldest boy.

We are very lucky, we have 3 beautiful boys, Cameron is our eldest and he is 5, Alexander is nearly 4 and Fraser is 18 months and fortunately the two youngest boys show no sign at all of muscular dystrophy but we always talked about having 4 children and now that is not such an easy decision to make or take. In answer to your question, Cameron developed normally as a baby/toddler, he walked at about 18 months and was a late talker but clearly understood what was being said to him, the only thing that let him down were his legs! I don't know if it will make you feel any better but my 18 month old throws magnificent tantrums and has done for a while but he soon gets over them.

I know that if it wasn't for my very tolerant and loving husband and my 3 wonderful boys that I would probably not get out of my bed every day, I know I should be more positive and that there are people out there in worse situations than me and I tell myself that numerous times a day but it is unbelievably hard to pretend to be normal and remember to smile (I'm sure my boys wonder where my smile has gone!) We found out Cameron's diagnosis nearly five months ago but to me it still feels like yesterday. I long for the day when I will feel like the old me again.

I hope some of this helps and thank you for giving me the strength to reply.

Best wishes

Michelle Henderson
Thank you for replying Michelle. I think we probably feel the same way. I, too, long for 'the old me', the one who used to sing along to songs on the radio in the car, who used to get excited about Christmas, birthdays. I think perhaps the treatments in the offing will help it come back. That we'll come to realise that the future's not what it was when we were told of the diagnosis.
Like you, I found it so hard to accept. I think especially as I'm not a carrier (yes, everyone seemed to think I'd be delighted by this fact) but it just made it harder to accept why I've been 'picked on'. We had Seth after long and unpleasant fertility treatment and it's just so unfair (as it is for anybody) that we'd finally 'made it' only for it all to go so wrong. Does that make sense? I should be grateful for my lovely little boy but I feel so bitter. As I type, this time a year ago I was just going into hospital to have him. I was so excited (but in pain!) and then so proud of what I managed to produce. He was big and bonny and came out screaming like billy-oh. I was so sure he was healthy and so relieved that it was 'all ok'.
I do, I really, really do, think that the future for the young ones (and the not so young) is going to be very different now from what it's been before though. There's so much in the offing. My gut tells me that the answer will lie in a cocktail of things and that, in time, our sons will wonder what all the fuss is about.
But my biggest problem right now is how to deal with the fact that this has happened at all. And the fact I'm so sad. And the fact that if I am ever blessed with another pregnancy I'll be b@stard terrified the whole time that it'll go 'wrong' again. I also worry, as I said, that Seth won't be 'normal' in his mind/behaviour. It makes me feel better, though, to hear so many people on here say that they have 'normal' kids. I'm glad to hear you say how bright and happy Cameron is.
Thanks for replying again.
Happy Birthday to Seth!!!

I know it doesn't help, but I feel the same way as you and Michelle. I too was so happy when Robert was just born and thanked God that he was healthy and perfect in any way. Unfortunately Robert was diagnosed almost 2 years ago and I still do not feel like the old me...I do not know if I will ever do. I do feel a little better than a year ago, it seems to get a little easier after a while.


lisa burke said:
Thank you for replying Michelle. I think we probably feel the same way. I, too, long for 'the old me', the one who used to sing along to songs on the radio in the car, who used to get excited about Christmas, birthdays. I think perhaps the treatments in the offing will help it come back. That we'll come to realise that the future's not what it was when we were told of the diagnosis.
Like you, I found it so hard to accept. I think especially as I'm not a carrier (yes, everyone seemed to think I'd be delighted by this fact) but it just made it harder to accept why I've been 'picked on'. We had Seth after long and unpleasant fertility treatment and it's just so unfair (as it is for anybody) that we'd finally 'made it' only for it all to go so wrong. Does that make sense? I should be grateful for my lovely little boy but I feel so bitter. As I type, this time a year ago I was just going into hospital to have him. I was so excited (but in pain!) and then so proud of what I managed to produce. He was big and bonny and came out screaming like billy-oh. I was so sure he was healthy and so relieved that it was 'all ok'.
I do, I really, really do, think that the future for the young ones (and the not so young) is going to be very different now from what it's been before though. There's so much in the offing. My gut tells me that the answer will lie in a cocktail of things and that, in time, our sons will wonder what all the fuss is about.
But my biggest problem right now is how to deal with the fact that this has happened at all. And the fact I'm so sad. And the fact that if I am ever blessed with another pregnancy I'll be b@stard terrified the whole time that it'll go 'wrong' again. I also worry, as I said, that Seth won't be 'normal' in his mind/behaviour. It makes me feel better, though, to hear so many people on here say that they have 'normal' kids. I'm glad to hear you say how bright and happy Cameron is.
Thanks for replying again.
Hey Lisa

Just read your post about deletions in the realm of 45-50. My 22 year old son's deletions are at 46 and 47. He has not needed scoliosis surgery and will probally never need it. I just posted he is getting ready to graduate college and actually is a pretty smart and happy kid. When he was younger he appeared to have some learning problems and actually took part in a longitudinal study at Columbia with Veronica Hinton looking at DMD boys learning profile. But he really outgrew any problems he had. My one caution is don't let school administrators have low expectations for him; my husband and I were always clear Joe was going to college so even in 8th grade he needed to be placed were he should be for classes instead of lower classes to make it "easier" on him. Don't get me wrong we never pushed him; for example they always told us he wasn't a good writer and we got him some extra help in 8th grade. Not much just 6 sessions with a tutor for writing. When he took the SAT's 4 yrs later he scored 650 in the writing portion.
Any other questions please email me....good luck. Just a word advice (which I am sure you have gotten loads of). Try to take it day by day because looking too far down the road can drive you crazy and take you away from enjoying the moments now.
Regards, Margaret
hello sometimes it affects also the brain because there has to be a level of distrophyn in the brain sometimes this distrophyn is not there so that is why this could happen. I have a nine year old boy who at the beginning was diagnosed with autism in aperger afterward we knew it was duchenne. There are a lot of therapies in which he can imporved. There is tomatis, neuronet. My kid received tomatis and he got a lot better. Right know he is in homeschooling but he went to school since he wass 2 years old. Sometimes is difficult for hem to make friends and the social area for that you can alsa read the child with special needs from stanly greenspan the name of the theraphy is called floortime that is also very necesary the early you do this the better. Dont worry there is a lot on this days to help our kids
I think there is the double exon skiping you should check on that the parent who is looking for help for founds from pepsi is looking for for founds on the double exon skiping you should see in the internet if this is the double exon skiping which ones are deleted.

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