"James goes to the local Catholic School but does get services through ACPS - primarily speech therapy. I've been happy with the therapists he's seen, and with their willingness to work with us, even though he's not in…"
Hi Tina .How is Mark doing now.I have not heard or seen any posting about starting exon skipping 45 .Do you know anything .(you mentioned about Japan).any updates on that.I feel as if time is slipping out of my hands.I wish things would move much sooner.
There IS a person, in Japan, who is trying to get a trial for skipping exon 45 in 2010. We just heard about this yesterday from Annemieke, the scientist from Lieden, NL. I am going to spend some time looking into more info on this person in Japan, his (I suppose this person is a male but don't know for sure) is MATSUO. No doubt there will be something on the web, somewhere. Our son requires skipping 44 & 45, according to Annemieke. If Mark will benefit from just 45 you might want to look into this as well. If you do, would you mind sharing? Two moms are much better than one!!
We're just starting the process - it was Hopkins or Children's, and mom and dad are starting with Hopkins. The diagnosis is still pretty fresh, everyone is raw, our godson is 3. Advice on what has been helpful and supportive (effective) for the family and kiddo is appreciated! (And I grew up in Harford County - HdG is SO pretty!)
I was thinking you might be interested in Steve Wilton's explanation about some in-frame mutations not progressing like Becker...it is quite interesting (of course we need to wait for the exon skipping trials to validate this...).
The reading frame rule holds true in about 90% of cases when the DNA is studied. When the RNA is studied, I think the reading frame holds true for 99% of cases.
There are a number of mistakes / changes in the DNA that affect the processing of the gene message. That is what may look like an in-frame deletion at the DNA level is manifested as an out-of-frame mutation at the mRNA level.
A good example of this is the deletion of exon 5, as detected by routine DNA testing. Loss of this exon does not disrupt the reading frame and would be expected to be BMD. However, two independent cases of an exon 5 deletion were found to lead to DMD. When further testing was done at the mRNA level, the gene transcript was missing exons 5 and 6 (out-of-frame) and this is consistent with DMD.
There are still other reasons for an in-frame deletion giving rise to a severe DMD phenotype.
1. the deletion is so big that crucial domains are lost and the encoded protein is too small to work. I understand that deletions of 34 (or 36 ?) or more exons are always associated with a severe prognosis.
2. the deletion has taken out a crucial binding domain. An in-frame deletion of exons 66-70 removes the b-dystroglycan binding domain. The protein would be non-functional
3. there is another mutation in the dystrophin gene. There are now several cases where multiple mutations in the one gene have been reported. Hence during routine screening a deletion may be found but there is still the possibility of subtle spelling errors (AND >END) in other parts of the gene.
I hope this helps. DNA diagnosis is a good start but it can miss the processing errors that may lead to deletions form the mRNA.'
Just wanted to let you know that we started Haelan 951 a little over a month ago. We started out slow, but he takes it no problem in the am and pm. He is only 27 pounds so we give him 15 ml's in the am and 15 ml's in the pm. We really think we see a difference strength wise and lifting his knees up higher when he runs. So far so good. We haven't started Idebenone yet, but that will be the next change for us. Sounds like it's going good with Mark. How is he doing? I would love to hear from you. Tonya :-)
thanks a lot. it is heartening to know that people of different countries are coming together to share not only joy but some poignant moments. yes we know and appreciate how difficult it is to share the real facts of DMD.
yes Connor is on 15mg steroids ,10 days on and 10 days off, he also has vitamin supplements and calcium supplements, he has been on them for the last 12 months and he is doing grate. he is still very mobile and still can clime the stairs. How is your son doing?
Thanks Tina, sounds like they will be fine. I'm going to order some of the 150mg this evening and start him on them over Christmas break. I think we're going to start with once a day for a few weeks and then move up to twice a day as well. Thanks for the help!
Hi Tina! I see that Mark is taking idebenone, would you be able to tell me roughly how big the capsules are? We're planning to start our son Cole (7) on it, but he has some issues swallowing pill. Right now he swallows everything in applesauce. He's swallowing some much bigger pills then he has before, but I just wanted to get an idea of their size. Glad to read your post and hear Mark is doing so well. Thanks...Kim