Just wanted to leave you a quick comment. The groups are great. Really impressive the amount of work you have done for your son. I am now living only to find ways to help with limited resources. I have had a fall out with Loma Linda for obvious reasons. They misdiagnosed Matt in 2005 and now I go to a clinic that has absolutely no services. I am also not in a talking relationship with one of main woman over at the OC MDA office. While I am the common denominator, it is simply my inability to allow my son to be a number. If someone can look at a child that is being ripped apart and not feel any compassion, then I'm not going to get along with them. I have left every appt at Loma Linda feeling worse that when I arrived. Why isn't he suggesting supplements? Why didn't he suggest meds for his stomach issues? My ex wifes son is 13 and in two years has never even had an EKG?? I tried to get counseling and they send in a very nice girl, but in her early 20's and busy in college, so unable to connect with her... I can't believe that families get left in these situations, but I am seeing it all the time when I meet them...Hope we can talk and hugs to your boy...I hurt for every single one of these kids
Was hoping you knew a little about the Children's Hospitals in L.A. and O.C. I am in contact with OC but have heard good things about L.A. Im easy to reach at facebook...Living with duchennes muscular dystrophy or Mark Perrotte..Take Care
Hi Christian Its late and I just need to talk to someone Caleb went to pt today and had his 3 month check and he has declined very very much the therpy gal told him he needs to be in his chair all the time.he answer is not ready yet not ready by now my heart is crying and I want to hold him and tell him ok next week next year however he is no longer safe getting on the bus my older daus say just put him in the chair and not give him a choice. what they dont understand is Im not eitherready that is. That darn old love gets in the Im sorry to tell you my problems but Im not sure how to post so everyone sees it and can respond It late and typing skills are tired hope this makes sence thank you oh yes I have a bottle of fruits around the world he would not drink it this bottle is not opened if you want it I will sent it or meet you somewhere to give it to you let me know Penny Hauer
Christian I have a son Christian who lives in chicago and Im from Ohio Akron I would very much like to take Caleb to MDA clinic there information would be greatly appricated what I really want you to know is how much Caleb and your son are phyically alike from the back its unreal the build is so alike Caleb is still walking but falls everyday and his knees look like you know bad my hope is we can get together soon cause I really want to get him to Ohio. money is a problem as we still have 18 kids at home and its hard but sometime you put first things first Caleb is my first I need to get a better handle on what to do a this stage in his life school is getting to be a problem how to get what he needs my other childre had cp and 5 have downn sym their problems are very different I love my children the same vut Caleb is just so very special we are very close I know you understand how hard it is to watch everyday the decline of body thank you for answering Penny
Yes, I did write a letter seeking coverage for out of state services. Please e-mail me at firstname.lastname@example.org and I will look for the letter and send you a copy Wednesday or Thursday.
I think the new group you started for Drug/Supplements Journal is a fantastic idea! Since my grandsons are only 4 1/2 and 3 years old, they are not on a lot of supplements yet, but my daughter and son-in-law would definitely appreciate and benefit from a group like this so they could learn from it. I hope everyone joins in. Thanks for starting this. Terry Porcaro (Grandmother to Cole and Jack)
Yeah, the steriod issue is hard no matter what. I'm sure the added piece of autism makes it even more difficult. You may be very surprised. Although I'm very anxious about steriods, I'm trying to be positive so I don't see only the negative effects that occur once we start.....day by day:) Thanks for your feedback. Hope to meet you all soon.
Thanks for responding:) We live in Del Sur area....I definitely would like to meet more families. It seems like we'll all have such important information to share with one another. Personally, we just got back from Dr. Wong's and will probably start steriods soon. Are you all using steriods? Would love to hear stories and share Dr. Wong's recommendations with those who haven't seen her. It seems many of the families are managing steriod side effects without negative effects - - that's not what my husband and I understood to be the case from any San Diego professional....Professionally, I've done advocacy for families of children with autism and I know that this can be challenging for all families with special needs kids. So, sharing stories of success, etc. would beneficial and this is only one domain we have to consider......do you think a monthly support group/gathering would be well recieived? I'm happy to open up my house. We could have the first one be with kids and make it a fun barbeque.....just thinking aloud. Okay, I'm not always this long-winded, but wanted to throw this out there...Best, Wendy
Hi. My family resides in San Diego and we just returned from Ohio. My son, Jake, just turned 5 and was diagnosed in July. I just getting to the point where I'm ready to start living this reality. Do San Diego families with young kids ever get the chance to get together socially? Thanks for any leads:) Wendy Bertellotti
I noticed your reply about skipping exon 50 under "Deletions" and was thinking you might be interested in Steve Wilton's explanation about some in-frame mutations not progressing like Becker...it is interesting.
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.'