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
Thanks for the post on the message board about my son's speech and communication delays. Ryan turned three on August 30. So I guess he's 3 years, 3 months. I will try the things you suggested, thanks soo much!!!
Sawyer sees the Doc tomorrow - for the first time in all of this I have a little anxiety. Thanks for the encouragement. Our vac is much needed and know that we will have a wonderful time.
Florida or Bust- Brenna
I am busy all day Saturday, but I may be able to do Sunday morning. My husband has a good friend in town from Michigan, but they won't be moving to fast Sunday morning, so I could probably escape without children then. My home email is firstname.lastname@example.org send me a email there and we can figure out details and I'll give you my cell number and home number!
Sawyer is 4 1/2. Thanks for the web site info. Every day I cope differently. Puddle is a great term. I'm tired of being strong for everyone else. I tired of family advice -- I think if we would have let some of them they would have sent us to moon if that would help sawyer. Being a nurse will pay off as the years go by but knowing so much more is hard right now. We meet with Dr. Day next Thurs and then leave for Disney on Friday. We planned this trip last Jan. before we knew anything -- ironic or what.
We just received Sawyer dx on the 20th of Oct. We see Dr. Day on the 13th of Nov. to review his genetic testing and get a "plan". What a roller coaster ride this is and will be for some time. I would love to meet. We live just 20 for Hudson, WI.
Amy - Way to go on the insurance. That is persistance. Yes, you are paying a fair price. The reason why I asked is that I was using Global RX for the first few times of ordering. They charged me $125 for shipping which was just crazy! When we went to our appt in July our nurse told us about Masters and I have been using them since. I couldn't believe that the cost of the meds were the same between Global Rx and Masters, but the shipping cost and the lead time, WOW what a difference. Thank you for sharing. Take care.
WOW! How on earth did you get them to pay for the deflazacort?? I was able to get our deflazacort covered via our medical tax free account for this year only because our tax free provider from work messed up and told me they would cover it and so I put in extra funds to later find out they wouldn't cover it. I argued my case and got them to agree to let me use my tax free set aside, but they cautioned me only for this year. Next year I am on my own. I would love to hear how you got coverage on deflazacort. Do you go through Masters Medical for your deflazacort or Global Rx? Wow, I was so hesitant to join any website with DMD because I was afraid of what I would find out here, but wow, I am learning so much! I am glad I got the courage to reach out and learn. Thanks.