what are you parents with DMD boys looking and researching for duplications and future therapies?
Thanks.
Char

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Replies to This Discussion

I have my hopes set on exon skipping. It just seems like it will be a long wait before they get to the duplications. A while back I went to a website where you put your child's duplication or whatever the case in and it tells you what will need to be skipped to take care of that particular gene problem. They need to skip Bradley second exon if I remember right.

I'm interested to hear other promising research news for duplications.
Lisa,
Thanks for the reply. I have actually emailed and talked to Steve Wilton - the primary mind behind Australia's exon skipping. His work is being used by the clinical trail in England right now. He works with a company out of Portland, OR called AVI - they compound the chemical compound if you will. He told me that he was working on duplications and that some exons are easier than others to skip. He was pretty confident that he could skip the ones needed for Will.
I think the biggest hurdle will be whether the FDA considers each compound as an individual drug or as a group of drugs. If we have to wait for each compound to get FDA approval, we have a long time waiting. Steve Wilton is a great guy...extraordinarily smart but so down to earth that you can chat with him about exon skipping.
Char
That's great that he is so down to earth and willing to talk to families about it. Do you think he would mind me sending him an email? I'd like to know what he thinks about the duplication of exon 2. Maybe you could even ask him about it. The waiting is definately the hardest part.
Hi Lisa,
Can you send me your email address and I will email you Steve's email address? I don't want to place it in public where he will be bombarded with emails....I am sure he'd email you back. He travels alot but he will eventually get back to you. Char
p.s. my email - charlatte2@comcast.net

what was the website that you put you exon in and it tells you what needs skippled?
Lisa Jones said:
I have my hopes set on exon skipping. It just seems like it will be a long wait before they get to the duplications. A while back I went to a website where you put your child's duplication or whatever the case in and it tells you what will need to be skipped to take care of that particular gene problem. They need to skip Bradley second exon if I remember right.

I'm interested to hear other promising research news for duplications.

Here is an interesting article on exon skipping and duplications.  It's from 2007 but still a good read.  http://www.biomedcentral.com/1471-2350/8/43

Donna - if you google University of Leiden in the Netherlands, you will find the dmd data base which will give you lots of info on duplications. Donna - what's your son's duplication, age and how he is doing?  Thanks Char Burke

 

Alex is 10 ys old.  we noticed him having problems starting from when he started walking, always wanted to be carried, walked on toes from the start, fell down alot, calves would on some days look swollen, had hives over his entire body for no apparent reason and could not at age 4 jump, hop, or run very well.  Well his duplication or deletion and actually total diagnosis is not 100%.  they did initial testing that came back as negative for DMD but, they did a muscle biopsy when he was 7 and said he had some dystrophin but not enough or sufficient so they diagnosed him as Beckers.  They did not do any other testing on him.  I did have myself tested for carrier status.  it came out that i have duplication of only exon 2.  It has been three years and I have been pushing my doctor to do more testing on Alex.  You see, they said he had Beckers and it is a slower progression.  Well I has been 3 years since the diagnosis and in the last 6-9 months it seems he has progressed.  he leans back when he walks, he walks at an extremely slow pace, falls down alot, cannot step up on curbs anymore, and is tired very easily.   We think he has DMD but we do not have conformation of this.  I have read that if he has duplication anywhere from exons 1-5 that it is a milder form.  Well mine is exon 2.  then I have read that it duplication of exon 2 is the most common but then I read otherwise.   I also read that if you have duplication versus deletion it is milder.  I have been following alot of the studies and it would be nice to be able to know which one to really pay attention to.  he recnetly had his 6 month  checkup and they assured me they will be doing some more testing.  I talked to the nurse two weeks ago and she said once they review all my testing results they would do testing on Alex based on my tests.  I have read that if you have duplication of exon 2 that they alot of times have duplications of exons 51-56.  so much info out there.  I am trying to learn as much as i can about this stuff.  I do medical transcription so I understand some of the terminology but still, very overwhelming.  any info you might send my way would be so appreciated.  one more question for you.  I have seen a boy with DMD who wore a medical alert braclet saying something to the fact that he has DMD, something about anesthesia use and causing hypothermia  or something.  do you know what should be put on a medical braclet for boys with DMD/BMD?   thank you for your help.

rke said:

Here is an interesting article on exon skipping and duplications.  It's from 2007 but still a good read.  http://www.biomedcentral.com/1471-2350/8/43

Donna - if you google University of Leiden in the Netherlands, you will find the dmd data base which will give you lots of info on duplications. Donna - what's your son's duplication, age and how he is doing?  Thanks Char Burke

 

Donna - Is your son Alex on steroids?  Does not sound like it from how your post reads.  By using deflazacort, it would help slow the pregression of the DMD.  If you can't do the deflazacort, then what about a US drug - steroid?  I am interested in the article that you talk about that duplications are more mild.  Can you share the web site address of copy and paste the article into this data base? 


Also - since you are newly diagnosed, are you doing stretches every day?  That helps with contractions.  Also there are special boots boys where at night which needs the foot stay level and helps heel cord not to contract. 

You also should get a medic bracelet - it should have the name of the doc, if you take steroids, dosage and that it can't be missed along with no inhaled anethesia.  Char Burke

Donna Cicardo said:

Alex is 10 ys old.  we noticed him having problems starting from when he started walking, always wanted to be carried, walked on toes from the start, fell down alot, calves would on some days look swollen, had hives over his entire body for no apparent reason and could not at age 4 jump, hop, or run very well.  Well his duplication or deletion and actually total diagnosis is not 100%.  they did initial testing that came back as negative for DMD but, they did a muscle biopsy when he was 7 and said he had some dystrophin but not enough or sufficient so they diagnosed him as Beckers.  They did not do any other testing on him.  I did have myself tested for carrier status.  it came out that i have duplication of only exon 2.  It has been three years and I have been pushing my doctor to do more testing on Alex.  You see, they said he had Beckers and it is a slower progression.  Well I has been 3 years since the diagnosis and in the last 6-9 months it seems he has progressed.  he leans back when he walks, he walks at an extremely slow pace, falls down alot, cannot step up on curbs anymore, and is tired very easily.   We think he has DMD but we do not have conformation of this.  I have read that if he has duplication anywhere from exons 1-5 that it is a milder form.  Well mine is exon 2.  then I have read that it duplication of exon 2 is the most common but then I read otherwise.   I also read that if you have duplication versus deletion it is milder.  I have been following alot of the studies and it would be nice to be able to know which one to really pay attention to.  he recnetly had his 6 month  checkup and they assured me they will be doing some more testing.  I talked to the nurse two weeks ago and she said once they review all my testing results they would do testing on Alex based on my tests.  I have read that if you have duplication of exon 2 that they alot of times have duplications of exons 51-56.  so much info out there.  I am trying to learn as much as i can about this stuff.  I do medical transcription so I understand some of the terminology but still, very overwhelming.  any info you might send my way would be so appreciated.  one more question for you.  I have seen a boy with DMD who wore a medical alert braclet saying something to the fact that he has DMD, something about anesthesia use and causing hypothermia  or something.  do you know what should be put on a medical braclet for boys with DMD/BMD?   thank you for your help.

rke said:

Here is an interesting article on exon skipping and duplications.  It's from 2007 but still a good read.  http://www.biomedcentral.com/1471-2350/8/43

Donna - if you google University of Leiden in the Netherlands, you will find the dmd data base which will give you lots of info on duplications. Donna - what's your son's duplication, age and how he is doing?  Thanks Char Burke

 

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