Pat, i am writing to you in hopes that you may be able to clear a few things up for me ( and possibly some other parents on this site) recently a parent asked those of us that have a child who can be helped with the skipping of exon 51 to contact lindsay at dr mendells office in columbus. i went on AVIs website and it appears that my two sons, with a deletion of exon 52 qualify. i contacted lindsay, she wrote back and said she wasnt sure of timing but they qualify, and she'd get back to us when the time was near. my first question is, are you aware of an upcoming trial? who do you know to be included in this trial? is there a specific biopsy the boys should have to be sure we are ready for a trial? the website says the current trial (UK?) is an IV dose, is it your understanding that the ohio dose would be localized in one muscle or in IV form? im sure you are too busy to follow all discussions, but the one about this topic has gotten heated at times, and i find myself more and more confused by parents answers. thank you for any info you can offer.
I greatly admire your work with Duchenne Muscular Dystrophy. I do not know what we would have done without PPMD. When I look at our grandsons, Elliott and Henry Johnson, I think this cannot be happening. But it is and I have to keep my spirits up. An hour does not go by that I do not think about my boys, my daughter and son-in-law. I am 73 and in good health. I hope I will live long enough to be able to help my daughter and son-in-law and see a cure. Our Elliott was accepted in Phase of PTC124, three weeks ago. I haave not noticed any improvement, so I suppose he is on the placebo. For once, I wish something good would happen.
Hi Pat &company,just wishing you all the best,stay strong,healthy and happy,you and your family are allways in our biggest muscle-;our hearts,rich and Nicole ps our "angels" are allways w/us and smiling down on us
Fathi's family wishes you a happy birthday with a healthy life and pleinty joy and more succes in your life ,and succes to our community with you on top.
Sincerely,you don't look 62yrs old,you look much yunger[it's the truth].
WE LOVE YOU.
hello pat it mrs fathi thank you for ur help and ur support and it very nice to meet you and meet all member ,i kow you are very busy but i am waiting for your help to get me sonnest possible apointement with dr finker ,it been know three month my son he don;t see him doctor iam very lost iam scared about my son i need to started the medication i need to see good doctor plaise .thank you
Hi Pat thanks for the welcome. I've been very busy and not had time to get back here until today.I talked to you some time ago about PTC 124, Joey is now in the study out of Vancouver he has been on the meds for 2 weeks now. We are very excited about this.
Hope all is well with you. I know you are very busy, but I have a question. My son Francis was diagnosed on 1/3/07 with DMD. His mutation is a rare one and I wanted to know if you have heared of it and if you could tell me about charts, journals I could look at to help me understand it better so I can help my son better? His mutation is: HEMIZYGOUS IVS55-1G>C MUTATION
Any help you could send my way would be most helpful. If I should need to call the PPMD office I would be happy to do so.
God Bless, Suzanne Desmond
yea, no question it is very complex. biodistribution, efficacy of shortened dystrophin, potential immune response and long term tox are all questions. the good news is that aons have been in 'people' for the last 20 years and efficacy in the mdx and dogs looks good. it is a new era in dmd, that is sure. i think we have a number of reasons to be cautiously optimistic. once we have proof of concept, we can break out the champagne
I also went to grad school at OSU, I got a PhD in statistics from there. My husband got his PhD in math from Indiana Univ Bloomington. We really like Dr. Mendell. You can imagine the sock when we found out that our "perfect" 3 month old son has DMD (never heard about DMD before and in fact I almost forgot about the newborn screening when they called in January). Dr. Mendell did give us a lot of information during those very hard first weeks, before we were actually able to start reading about the research.
I understand that exon skipping is very complex and there will be a lot of response variability even if it works...but we need to hope in order to keep our mental sanity.
My son is 1 and has a deletion of 50 -- he was diagnosed through Dr. Mendell's newborn screening study (I did not have any family history and am not a DNA carrier; of course there is a real chance that I am germline carrier). So skipping 51 has the potential to be therapeutic for him IF it works. Let's hope that obtain proof of concept in 12-18 months.
Would you be able to give more details about this statement: "though mutations are a bit more complicated than 48-50. Information about specific exact breaking points must be understood"? All I know is that the deletion should start/end in the introns not too close to the splicing sites. Do you have more details?
Anthony and I are taking part in the "Coach to Cure MD" event, we have a fundraiser lined up and we got our local media involved. I just read your last blog and I too believe us as a community can make things happen!! I also had a few questions about the supplements.
It was so great to meet you at the Canada roundtable. I can’t tell you how much I appreciated you taking so much time to talk with us. We came back home having rejuvenated hope for the future.
I just have so many questions and I know how busy you are fighting for the whole Duchenne Community, so again I can’t thank you enough.
First Idebenone, where should we buy it? And what dose would I give Gavin? He is 2 ½ and weighs 28 pounds and he is not on steroids at this time.
Haelan 951, where should we buy it? Also you mentioned the possibility of us purchasing it with a 50% discount if we mentioned someone’s name. I know the stuff tastes and smells disgusting, but we are going to do our best to get him on it. What dosage is recommended?
We are going to stop the protandim and go with the Green Tea extract. Is there a certain type that works better than the others and again what dosage should I try?
We currently have Gavin on 1,000 IU’s of Vitamin D3 and we will stop the CoQ10 once we get the idebenone. We give him a half of a Flintstones chewable complete vitamin. Do you know if there is a certain vitamin that is recommended for the boys?
Do you believe even a boy of Gavin’s age should get on an Ace inhibitor? Are they harmful?
I realize that doctors aren’t going to recommend anything unless it has gone through the whole lengthy process of trials. We just feel we can’t sit by and wait IF some of these supplements will help in anyway.
Is there any other supplement or vitamin that you would recommed?
Thank you so much for all of your help!!
Tonya & Anthony Carlone