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.
Hello, My name is Mehboob Ahmed from karachi Pakistan, I have a son Nabeel Ahmed 15 years, he was dignosed at 10, what about your another son joe,
can you give me name of medicine which you give to Alec as Iron.what he use for walking and climbing stairs.
He play on the computer or read a book,,,
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.
Hi,my son have problem going up stairs,running,some speech problem,but THANK GOD he is very active,don;t get tired : I mean he goes school at 8am get out at 2:30pm,then walk to the rec center with friends,get out at 5pm ,came home ;eat,do his home work,play then around 7pm we go to the swimming pool for 90mns,after we get home you will think he is exhausted,NO