Yes, Trevor is still on the drug. We have seen some slight changes in his walking, swimming, and overall strength. We are not seeing the dramatic changes that some of the other parents are reporting. Trevor is almost 12, most of the dramatic changes are being seen with younger children. He has been on the drug now for 9 weeks, we are hopeful that we will begin to see those dramatic changes soon. I'm sorry things didn't work out for your son. We still question if we are doing the right thing for our son. We hope this drug will help. Hope is such a big word. But, it is all we have for all of our sons.
Hi Brad, Sorry I did not get back to you sooner, this time of year being so busy and i'm new at this site so did not think to check it sooner. Enderby is about 30 min north of Vernon in the okanagan. We receive care through Vancouver Childrens hospital, is this where you take your little guy? Joey is 9 and yes he has a great sense of humour also. Joey is in the PTC 124 study,we started in late Oct, and we are due back in Van next week on the 20th. Joey has a stop codon at exon 70. What is Skylers, and do you have him in the study? Joey is also on co enzyme q 10 - 800 mg daily and Vit D 2000 iu daily, Calcium 1200 mg daily, Deflazacourt and Melatonin. Joey was diagnosed when he was five and half as he had to go for a school placement asesement at Sunny Hill, and that is when it was discovered. Joey had some other issues that we sorted out through good support at school, althougth it was only after many meetings and much persistance on my part, actually school was a real nightmare for the first two years. I would like to hear Skylers story too, how old was Skyler when he was diagnosed and why? well I had better go for now. Hope to talk hear from you soon.
I've been keeping up with the communications you have been sending and receiving and am so impressed with your continued strength and invovlement. You have a found a lot of good resources and advice from people who really seem to care, people who are in the same situation as you are. Skyler couldn't have a better father to help him through this challenge. Two thumbs up to you, your love for your children, your dedication as a dad. Love, Sari xo
It is so refreshing to find another parent that puts quality of life at the top of their list as sometimes we can all fail to see the wood for the trees.
As far as the biopsies and tests occuring at the prime of Skylers young life, even if he wasn't on the trial, he would probably have to have a lot of invasive tests done over the next 3 years anyway. I know Mitchell has had the biopsy and numerous blood tests (some every 3 months) since he was diagnosed, and that was all part of the treatment of his condition, and nothing to do with any trial.
I think it is all how we as parents "sell" the situation. Mitchell used to hate having blood tests, but then I told him that any blood they didn't use was sent to NASA and used to fuel spaceships! (my nose was growing longer by the day I swear) I managed to get the hospital in on the pitch, and by the end of it, Mitchell was looking forward to having a blood test and doing his bit to further space travel! He's now 11 and figured out that was a bit of a porky, but he now has no problems with blood tests or any of the other things that come with having DMD.
As I said in my email, the care you receive on the trial will be exemplary, and I don't know about Canada, but I do know over here if Mitchell needs to have his levels checked, we will now leave it a few months, and do one large draw rather than lots of little draws, so you may find that as part of the process for the trial you can also have routine bloods drawn at the same time to reduce the impact on Sklyer.
I really look forward to hearing how it all goes, and always keep at the back of your mind the fact that you can call stop if it all gets too much for the poor little lad.
If there is anything I can do to help, including recent research papers, please do not hesitate to contact me.
Hi Brad, Hunter takes prenisolone on the weekends only. He does not especially like the taste of the Ptc124/placebo, but he understands the importance of taking it. He recently spent 3 weeks with me while he was on a school break and he knows what time he is to take the med, which packets and how many to use and how to mix it up. He would often tell us when it was time and we put the med and a little water in a glass and then he mixes it to make sure all the "chunks" were gone. he does not like those chunks.
the biopsy was hard just because it scared him more than anything else. Having the mask on his face and just the feeling from the drugs. But after it was over he was fine. It healed nicely and he had no problems. As far as making the blood draws easier, I don't have a clue. He just doesn't mind them. I know he really likes the nurses that work with him.
I don't know if anything I've said helps, but good luck.
Brad, I'm not sure if my grandson's parents reviewed any statistical information or not. Just the fact that it does increase dystrophin in some was enough to give it a try. This is the only drug that has ever given that much hope. Rather than wait several years for it to be approved, we wanted to get him in on the ground level if there is any chance at just keeping him at the level he is now. By the time the drug is approved, I'm sure he will not be able to walk anymore. At 8 years old we have started to see the decline in his abilities in the past 6 to 9 months and it is heartbreaking. I would guess that if your son is 5, you probably have not seen that yet, or your decision might be easier.
As far as the blood draws and hospital visits, he is taking it all really well. The biopsy was a little rough, but the blood draws are no big deal. I took him for one recently and he told the nurses how to do it!
Hello Brad, you asked show difficult a decision it was for the family to start the PTC 124 trial for my grandson. Not difficult at all. In fact it was a no-brainer. This is the best hope there is right now. We were so thankful that he is able to participate. He is doing well, though not improving. Hopefully it is the placebo and he will get the real thing at the end of the study.
I read your post regarding insight into whether or not you should enrol your son in the PTC124 pt 2b trial, so I thought I would drop you a quick line.
I am studying molecular biology, and as such should be pro anything like this, however I do look at both sides of the coin, and thought I would let you know that if you want someone to go through the pro's and con's (both from a research point of view and a parent of a child with DMD) I am more than happy to do so.
I have sent a friend request to you, that way we can also email if there are things you want to discuss about clinical trials that you don't want all over discussion boards for everyone to comment on.
Sometimes with these things you just need someone to bounce your thoughts off and I will gladly help you out, as we have been in a similar situation ourselves, and so I know where you are coming from.
Hi Brad: Thanks for your note. We also enjoyed meeting you at the round table on Saturday. It was a tremendous lot of work to organize but it went well and we are happy about that. We will definitely get together to discuss Parent Project Canada and next steps. Thanks for your offer of help--we definitely need a much bigger "team". Kelly and Shaan are in Utah right now for our 6 wk visit for the PTC 124 Phase 2A extension study--they left Sunday morning. We will be in touch soon. Love your page and all the photos/videos.
You are tireless in your commitment to your children. If only more parents showed the love and selflessness that you do. You are an inspiration to me as well as so many others. You are an amazing parent and son. Love Mom
Great site, great organization.
You never cease to amaze me in your endless love for and dedication to your beautiful children.
You're doing great with your invovlement.
Keep up the important work.