Hi,
We got the test results today,.5 yrs old kid; findings are deletions of Exon 50. There is too much going on in my head and need some help with some doubts

1. I think skipping exon 51 will help, How can I join the trial from Prosensa

2. Doctor adviced to start steroids (Prednisone) next week, with 10 days on and 10 days off steroid. Any advice on the steroid or its use will be really helpful?

3. Is there any one having experince with a kid having deletion of exon 50. Any key observations, how severe is this deletion

4. Lastly is there a chance that there may be errors in the DNA tests. Are these tests accurate or should we try for another round of tests before starting on the medication

Thanks

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My son, Sam, has a deletion of exon 50. Yes, skipping exon 51 is what is needed. I don't believe there is any way to get into the trials just yet. If I remember correctly from the conference, it should be open late next year. Sam takes Deflazacort daily. Besides stunting growth and low bone density, he hasn't had any other side effects from it. Sam is now 6 and doing very well. He can run and jump. He tires easier than his unaffected twin brother, but he really does keep up fairly well. He's a little bundle of energy most of the time. To answer your last question, I'm sure there are chances for errors, but I personally have not heard of any. What doctor are you seeing? Have you had any other testing done before starting steroids? Your son should have his chicken pox titer checked. If he's not immune, then he'll need a booster of the vaccine, then need to be checked again for immunity before starting steroids. He also needs to have a TB test. Did your doctor tell you about calcium and vitamin D3 supplements needed with steroids?

I know this is a very confusing time for you. It's been 3 years for us now, and I still find a lot of it to be over my head. Please let me know if you have any other questions and feel free to send me a private email if you'd like.
Thanks Laurie for the insights. My doctor did not discuss about supplements and tests. She did talk about having a lung function test next week along with other checks like blood pressure before starting the steroids.

We are in Netherlands and probably the process is bit different here. We were also so struck by the report that just did not have the guts to discuss things. However is there a list of items that I should be checking before the steroids. Atleast I got 3 on the list, Chicken pox, TB and the supplements.

Thanks again.
Hi Tulika,

Sorry to hear about your receiving the results of your son's test. I know how difficult a time it is for your family, our diagnosis isn't yet a year old. I hope you will find this website as user-friendly as we have over the past 10 mos, filled with solid data and loving, concerned parents in the same boat. Regarding Exon skipping: I agree with you- it should help your son. You can read about Prosensa at their website www.prosensa.com for further information regarding their upcoming trials and where they are to be held.

Our Dr (s) all said the same about prednisone- start right away, advice we took. We did a bunch of research first tho...in deciding which regime fits best and compared prednisone vs deflazicort. Our son takes prednisone daily. He had some weight gain but also grew an inch since we started, there is very little fat visable on his body and his neuro said weight gain can include muscle gain. We are watching what we eat and keep him moving as much as possible. He had many anger outbursts (a known side effect) but that seems to be tapering off, for now. He has taken it for aprox. 7 mos. It has provided a physical boost already. He walks (on toes mostly), "runs" as DMD boys do, can hop a little, has more stamina, seems happier (the increased physical abilities helped his deflated ego). Even with the side effects I highly recommend steriods, and I was against them at the start.

My son just turned 10 years old, is missing 2 neucleotides on exon 44. You can check further into this website for other parents with deletions on exon 50 and what their experiences offer.

About your last question- I would expect no errors from DNA testing but it doesn't hurt to re-run the thing if you wish. If your son isn't showing (at 5 years) major signs of slowing down perhaps starting the steriods after another 8 weeks (or so) to rerun DNA wouldn't hurt. MD advice would be important here but keep in mind you can obtain second and third opinions. We saw 4 neurologists after recieving a muscular dystrophy dx from our ped. Dr "shopping" was important to us in making sure we have solid information and the best care possible for our son.

I wish you well. It pains me to know another child is suffering from this terrible affliction, another family stricken.
Feel free to ask anything, anytime.

cheryl

ps I know your head is spinning and it probably won't stop for quite some time. Try to take good care of yourself, for your son & family. And, although it's hard sometimes try to keep in mind scientists and researchers all over the globe are working to cure duchenne. I feel confident something will break through in time for my child, certainly yours and it helps to get me thru each day.

Hi there, my sons have a deletion of Exon 50 also. I also would love for them to be on the trial for Prosensa, but we are in NZ. I am looking into it though. Exon skipping should help our boys, its actually what keeps me going. I started a group on here called Exon 50 deletion.

Just realised your post is from 2008! Not sure you are even still on here. If so, how is your son now?

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