Hi

We have just recently got Johns diagnosis as "deletions in exons 3 - 7".  Otherwise we know very little.  John is 10 and still quite mobile although geting worse.  Any thoughts or information that anyone has would be great.

James

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Any specific questions or information you're looking for? 

If you're recently diagnosed, I encourage you to look through the information on the main PPMD website - www.parentprojectmd.org, and have your son seen by a multidisciplinary medical care team that focuses on muscular dystrophy.  There are several very large ones, but that model of care is now being used by many facilities, so if you can't get to one of those, there's a good chance there's an alternative near you.  I'm sure you'll get some recommendations if you post your location.

 

 

This deletion is mostly Becker Not duchenne

Thanks to all for replies.  I suppose we are hoping that in might be Becker and NADJA has suggested that might be so.  We are in Republic of Ireland and just now getting started with steroid treatment and other checks and meetings so we are feeling our way.  A cousin in America suggested contacting CHOP i.e. Childrens hospital of Philadelphia - reputed to be the best childrens hospital in the wotld.  Has anyone had any experience with them from a DMD point of view?

The site is great and hearing other peoples experiences is a comfort.  News of more treatments would be great while boys like John are still mobile.  Hopefully!


 
Keith Van Houten said:

Any specific questions or information you're looking for? 

If you're recently diagnosed, I encourage you to look through the information on the main PPMD website - www.parentprojectmd.org, and have your son seen by a multidisciplinary medical care team that focuses on muscular dystrophy.  There are several very large ones, but that model of care is now being used by many facilities, so if you can't get to one of those, there's a good chance there's an alternative near you.  I'm sure you'll get some recommendations if you post your location.

 

 

http://www.clinicaltrials.gov/ct2/show/NCT01856868?term=cardero&...

this is single site study right now in USA but shows great promise. I would take it to your clinic and shop it around for when they start looking for UK sites

Hi James,

My boys and I have deletion of exon 3-7. Calvin is about to turn 18 and Jared 15 and they are both still walking! They see Dr.Brenda Wong at Cincinnati Children's. They were put on Deflazacort when they were 10 and 7 and we saw improvement right away. Dr. Wong calls us "outliers", where the genetic diagnosis is DMD but the symptoms are milder. I have a family history of this, with cases going back to Ireland. Here in the states I had an Uncle and 2 first cousins with it and they lived to late 30s early 40's with no real treatment. I am so glad you reached out here. I know how scary this all is. There is tons of info on the care standard they use now on the PPMD main site. Also I know Dr. Wong would be glad to advise your doctors. She treats a bunch of the 3-7 boys and has even published a paper with Dr. Steve Wilton regarding them. They believe exon skipping will work extremely well for them. Sarepta has exon 8 skipping in the pipeline right now. So lots of hope for your John. Let me know what else I can tell you or help with.

Eileen

CHOP is an excellent pediatric hospital.  If you were going to make a special trip from Ireland and go anywhere - I'd probably choose someplace that has an especially large base of DMD patients, and specific research and expertise around DMD - like Cincinnati (that's where we go), or Columbus.  But there's others that are also quite knowledgeable and use the same kind of model of care.  I'm not specifically familiar with CHOP's DMD program, but given the quality of the overall hospital, I'd imagine it's quite good. 

 

Keith, did your son use GH therapy? What was the experience?

Sent you a PM

amit gupta said:

Keith, did your son use GH therapy? What was the experience?

Hi

Is a 'nonsense mutation' a separate condition of MD from pre-deletions in one or more Exons or could a boy with pre-deletions in a series of Exons also be described as having a 'nonsense mutation'.  Any views please?

Hello James,

As far as I know a nonsense mutation is a point mutation that consists of a change in one of the nucleotides (for example thymine instead of cytosine), which produces a truncated, almost always useless protein. This point mutation happens within one ot the exons of the gene. Therefore, a multiple deletion (like 3-7) is not a nonsense mutation. My son Hernán has a nonsense mutation (stop codon) in exon 7. 

Very interesting comment about 3-7 deletion from Eileen DeLong.

Best wishes

Bernardo

Hi all-My son is newly diagnosed with 3-7 deletions as well. i appreciate the info. When does one consider traveling to a different clinic? We have what I thought was good care at our home Children's hosp but I keep hearing about cincinnatti and Columbus. How do you decide?



Michele said:

Hi all-My son is newly diagnosed with 3-7 deletions as well. i appreciate the info. When does one consider traveling to a different clinic? We have what I thought was good care at our home Children's hosp but I keep hearing about cincinnatti and Columbus. How do you decide?

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