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I got a letter from my sons Dr. for insurance payment of Deflaz. Where did you send your letter? To the claims Dept?
Alec would need either 44 or 46 skipped. In frame and out of frame confuse me. I thought I had it figured out, but every time I think I do, I am wrong...so I gave up on that. Some people think it is the difference between BMD and DMD, with In Frame being BMD, but I have seen somewhere (I think the Utah database) that In Frame patients can have DMD...so who knows.
As for exon 45, it should be included as one of the first 6 exons to be tested in exon skipping. Currently, they are testing for 51 and 50 is right around the corner, if it hasn't already started. One of the organizational leaders of a different non profit has a son with our same deletion and they mentioned to me that what we need tested is right around the corner...so hopefully it is next.
My thoughts on exon skipping are not like other parents. I am very skeptical about it. All it does is change DMD to BMD, so still an MD. There are cases of BMD that are just as rapid as DMD, so who is to say that for each kid who receives exon skipping that they will live to 40, 50, or longer? My gut tells me there may be instances that even when changed to BMD, it could still be a fast progression.
I do think that since there are no potential cures in the pipeline, exon skipping mixed with other potential treatments will be the way to go. But, we need all these potential treatments to work. Utrophin upregulation, BBIC, and exon skipping may be the combo that will help slow down progression to help with longer lives...but all 3 are potential, so we must wait.
Your son and mine are right on that border where they may or may not be helped by a treatment. I feel positive with the work that is going on today. Will something come in time before they stop walking? I dunno? But I feel pretty strongly that something will come in time that they won’t have the complications we hear of in boys today who are in their later teens…and I feel that they will have a much longer life as well.
Just keep up hope and always stay positive.
Sorry for the super uber late response. Did you still need information on exon skipping? If, so, how much would you like to know?
Hope all is well,
I believe you mentioned a month of so ago that you were able to get your insurance company to pay for calcort?? Would you be able to share how you won this battle and how you wrote the letter?
is he goes to school?
can you give me name of medicine which you give to Alec as Iron.what he use for walking and climbing stairs.
Then he goes to the bed around 10pm to 11:30pm
The next morning have hard time to get up,but after having his breakfast ,it's a nother day,,,
My son isn't under any medication till today,I been very upset with his neurologist,we looking forward to go to chophiladelphia.
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