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Exon Deletion 3-7

Connect with other families with exon deletion 3-7.

Website: http://www.frontstep.us/Delong/mda.htm
Location: Derry, New Hampshire (You are Welcome to Visit)
Members: 29
Latest Activity: Nov 2, 2018

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Daughters of Carrier Moms

Started by Colin McKenzie. Last reply by Colin McKenzie Jun 13, 2011. 2 Replies

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Comment by Eileen DeLong on March 6, 2009 at 10:23am
Hi Tagni,
Welcome to our group.
I have posted some articles that may help you and our group.
From what I have learned deletions in this region of the dystrophin gene tend to have milder than expected phenotypes. We just saw Dr.Tseng at Mass General in Boston who agrees with me that deletion of 3-7 results in a group know at "Outliers" who do not fit in as DMD or BMD. I am not really sure the the implications of 6-7 in specific are. But I do know that there are more cardiac implications with this region of the gene so that must be monitored closely. I would also find out if you are a carrier because the heart can also be affected with us too. The first article I have posted here gives a really good break down of genetic analysis. It is very up to date as I noticed it was revised in Dec 08.
Let us know how your appointment goes. You may want to consider going elsewhere as the standard of treatment varies alot among the clinic. I highly recommend Dr.Wong in Cincinnati. She is really one of the best in this field and you can read all about her and her clinic on this site.
I know how hard this is to deal with and do try to stay positive and just live each day to the fullest. If you need our help we are here for you.
Eileen
Comment by Tagni McRae on March 5, 2009 at 3:20pm
Hi--I am new to the group, as we just found out about my son a couple of months ago. Today, we found out he has deletions in exons 6, 7. Until we get a muscle biopsy, or further tests, is there anything we can tell about his prognosis given the information we have now? could anyone point me to any research about this type of exon deletion? Luckily, we have an appointment in April at the MDA clinic at the Children's Hospital of Dallas. But as you know, 6 weeks seems like an eternity when dealing with this condition! Trying to stay positive.
Comment by Laurie Barton on February 2, 2009 at 11:23am
Hi Donna,
No, my sons have never taken steroids. Older son is on meds for high blood pressure; younger son is on Toprol for cardiac.
Laurie
Comment by Donna Taylor on February 2, 2009 at 10:25am
Laurie, I forgot to ask...have either of your sons been taking steroids?
Comment by Eileen DeLong on February 2, 2009 at 10:22am
Laurie,
Thank you so much for sharing your story. You bring us so much hope for the future.
Comment by Donna Taylor on February 2, 2009 at 10:05am
Hi Kelly,
Glad your appointment with Dr. Wong went so well. We also noticed a huge improvement after starting Deflazacort. I started seeing it within 2 days. And Jordan is 5'1", which we are very happy with. We have not done a sleep study. He had a lot of trouble sleeping after he started taking Deflazacort so we gave him melatonin but he didn't like feeling groggy the next day. We eventually reduced his steroid does from 30mg to 22.5mg and he's doing great.
Donna
Comment by Donna Taylor on February 2, 2009 at 10:01am
Hi Laurie,
Thanks so much for posting. I think it's so helpful for us to hear from other families of boys with the same mutation. I just checked out your page and LOVE the barn!! It is so cool that your son helped design the living space. I hope you can post more pictures for all of us to see.
Donna
Comment by Laurie Barton on February 1, 2009 at 2:00pm
I have 2 sons with DMD: older is age 33, younger is age 30. Test results for older son indicated deletion of Exons 3-7. Since I had 2 sons diagnosed with DMD, I was told at Clinic that there was no need to test my sons...or me. Older son was tested in 2002 when female 1st cousin wanted to have children, but wanted to know if she was a carrier.

Since becoming a single parent, truthfully I have been focusing on day to day survival, working and regular clinic visits; I'm really behind on research specifics. My younger son & I want to be tested. My older son walked until he was 16, younger son until he was 8. Younger son has had tendon release, tendon transfer and spinal fusion surgeries. Older son has had to have NO surgeries.
After reading so many comments, I need to catch up! Laurie

I had a first cousin who was diagnosed with DMD; his brother didn't have the disease. No other family history, so we thought the mutation began with him. We received the older son's diagnosis at age 4, when the younger was only 9 months old. We could have had him tested then, but chose to wait until to see if any difference in motor skills developed. At age 4 younger son was tested and also was diagnosed with DMD. In early 1980's no further testing was available. It was never recommended after that, either.
Comment by Kelly Bruhl on January 7, 2009 at 11:53pm
Cade just had his appointment with Dr. Wong. He has actually improved over the past 6 months in running, getting up off the floor, and flexibility. He will be 9 in May. I guess it does say a lot for Deflazacort and stretching. We are also limiting his physical activity using a scooter. He also grew an inch - I expected that to be really stunted by the steroids. Have any of your boys had a sleep study yet? If so, what were the results?
Comment by Donna Taylor on January 6, 2009 at 8:53pm
Hi Wendy,
I have been away from the site for awhile and just now saw your posts. My son Jordan was not diagnosed until he was 10 years old. He's 13 now and still walking! He only needs assistance for long distances and uses an elevator at school. Most people looking at him probably wouldn't even suspect a problem. He has lots of friends, makes straight A's in a regular school, annoys his sister as much as possible and is quite happy. I cried for about a year after the diagnosis, but I'm finally enjoying life again, although I never thought it would be possible.

I'm so glad to have this group on the PPMD site...it's exactly what I needed when I first found out his deletions. There's such a wide range of mutations and I desperately wanted to find other parents of boys with 3-7. Then out of the blue, Eileen called me and told me about her family history. I know each boy is unique and just because her family members showed milder symptoms doesn't necessarily mean my son will, BUT it sounds like Jordan is doing just as well. I hope that your Jake is on the same track as our boys.

There are so many things that I thought about telling you after reading your post, but for now I'll just pick one. I am not an expert by any means, but I wanted to give you my opinion of our steroid experience. After doing tons of research, we decided to go with Deflazacort hoping to avoid the excessive weight gain and behavior problems. After almost 3 years, I am very happy with our decision. We reduced the dose by 25% because he was having trouble sleeping and his face got very round. No weight gain...he's actually quite thin except for his x-large calves. I strongly believe that he would be in a wheelchair by now if it were not for the Deflazacort. As far a timing, I think it's best to wait until Jake starts having trouble before starting steroids. The main reasons are the stunted growth and osteoporosis caused by the steroids. How tall he is may not seem like a big deal now, but when he's a teenager it will become very important to his self-esteem. Jordan is almost 5'2", which is great, but I know there are some boys about the same age as much as a foot shorter. Dr. Wong will consider HGH for extreme cases. Jordan's bones are very brittle after being on steroids for 3 years, but he started taking Fosamax a year ago and is almost back to the normal range.

Let me know if you have any questions and I'll be glad to help. Hang in there!

Donna
 

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