hi holly, just checking in, about the prosensa trial. we are in columbus, our last appointment at the hospital is monday morning. wondering if you guys ended up in the trial, and if you are here now, austin wished to have met more boys here. hope all is going well
Hi, Holly. Thanks so much for your last reply. This is a very hard stage obviously!! I've been shocked and scared, and really freaked out when he does this. It's great to hear about other's experience w/the same thing. Makes me feel less alone.
A couple more questions....
Did you already have everything set up in your house by the time Tyler was to this point? The biggest problem we're having right now is that our bathrooms are not accessible to his chair. The medical supply company is supposed to be contacting me, but for some reason I still havent heard from them. I'm wondering what it's going to cost to get my house completely accessible for him in his chair. And, if there's any help in paying for it....
Hi, Holly. I hope all is well. I had a question I hope you may be able to help with. Austin recently had two days in a row when he could not walk or stand at all on his own. Then the next morning he walks out of his room to the kitchen and pours his cereal... Again, tonite, he started doing the same thing. I'm thinking tomorrow may be another day like before. Have you ever seen or heard of this before? I have called the Dr and talked to the nurse to explain the situation, and I am still waiting for another call back. Any help or advice is welcome!! Thanks
Thanks for asking about the trial. As of now we are still waiting for dates to be set. Aparently it takes a while to pull these kind of programs together. I will post when we hear something. Take care.
Hi Holly. I'm not sure if they are still recruiting patients. If you are interested in the study it would be worth it to contact them. I do not believe that the study has begun, as they were interested in having Andrew participate in the study. I am just waiting to hear from them. Take care. Jennifer.
OMG, yes, he does not stop talking!!! lol, Austin takes Focalin XR 15mg. He has taken it now for 3 1/2 yrs and it works well. He is very impulsive vocally, and acts out vocally to get his attention since he cant burn all his energy physically. He's really a very funny child but will drive everyone around him crazy once his meds have worn off for the day.
The Focalin is a 10hour medication so, he takes it about 6:45am and it's wearing off about the time he gets out of school, so, we still deal with all of the talking in the evening. I also think Austin may be OCD... Which is the cause of so much anxiety for him. Hope this helps.
Holly-- thanks for the note. My son does not know he has DMD at this point--I know in time he will ask question but he is happy now and I dont want that to change until it has to. Tyler is Im sure really having to manage alot. At what age did he start questioning?
It seems that Tyler is alot like my son Austin. Austin has ADHD along with being learning delayed and having DMD... Austin will be 11 in August and I have seen such a huge decline in his abilities in just the last couple of weeks. I know Austin notices this too, and he has made comments, I think he understands more about this disease than I think he does.
I think they all do and kind of dont want us to know.... Like we all may have to face "their" (the boys') reality sooner than any of us want to.
I know exactly what you mean on being depressed and I've definitely been seeing it in myself alot lately.... Thanks for the post...
Well we are in the process of gaining information about a clinical trial that is on going at The Research Institute at Nationwide Childrens Hospital/Columbus Ohio. Doctor is Dr. Jerry Mendell(firstname.lastname@example.org). Clinical Research Coordinator is Laurence Viollet(email@example.com). The inclusion criteria: deletion of exon 52 and must be over age 5. They are looking for 3 patients for trial to begin in the summer. The trial will consist of injection of small foot muscle, and biopsy of site 6 weeks later. The study will take 2 years, but patients will only need to be seen during the first 2 months. The results of this trial are necessary for FDA approval of vascular delivery in the future. That's all I know for now. Once I find out what the biopsy consists of, we may be taking a trip to Columbus. Andrew, who is 14, is all about this, as he understands what it could mean for the future.
I was reading a discussion thread on the Christians with DMD page and noticed that your son, Tyler, is 12 just like my son, Andrew. I am going through many of the same struggles you are, and it has been so helpful to me to know that I am not alone. Friends I have made through this site and at the PPMD conference have been such a blessing to me. I would like to add you as a friend so we can compare notes and encourage one another to keep the faith in the midst of the many challenges we face as moms of boys with Duchenne.
I am so sorry, things got out of hand here. He is freaking out about surgery tomorrow. His two favorite stuffed animals disappeared. The dog has diarea. We leave on Thrusday about 1:30, but we wont go out tomorrow after surgery.
With regards to your reply to the post "am I a carrier" since you are not a carrier your sisters are no more likely to carry dmd than any other person. Also since you are not a carrier your mother would not be a carrier. Your daughters on the other hand could be carriers, you could be a germ line carrier and passed it on to them through your eggs. This type does not show up in your dna test. There is a good article in a back issue of Quest magazine you could search for on the mda site that explains this quite well. Since I was found to be a confirmed carrier my two sisters were tested and came back negative. Didn't really see the point of finding out if my mom is a carrier as she wasn't having any more children. I was slightly curious though but oh well not enough to pay for a test.
The study went fine, though Jack caught a stomach virus which took him out yesterday and passed it to me today. I hope our house is healthy, before we start traveling again next week. . . .
Hi Holly: Thank you for adding me as a friend - this is the best website and everyone is so helpful and supportive - you will love it. I have been attending the PPMD Annual Conference since 2005, and last year and this year I am going to Washington DC for the advocacy conference. I have met so many great parents - and I actually find out a lot more info from the doctors and the parents thru PPMD than my own insurance doc's! I am having trouble getting my son a wheelchair thru my insurance co., so he uses a scooter right now. I know he isn't seated properly, but for the time-being it is a lifesaver. My endo suggested taking him off the steroids, but I'm not ready to do that yet - I'm actually trying to get him on growth hormone, but that's not working out either. Nicholas is very bothered by his height (4ft) and weight (100 lbs). He has been the same height for at least three years and is in the 3rd percentile (unfortunately he's in the 99th for weight!!!). Friday his cardiologist told me to put him on Weight Watchers! He used to be so thin - it's amazing to look back at pictures and see the changes from just one year ago even. He started steroids at eight because he was in the Albuterol clinical trial which delayed steroid use (plus when he was diagnosed at four, the doc said no steroids until he could no longer get up from the floor). Old-school stuff compared to the advice now! It's great hearing from you, and your family is lovely and it sounds like you do a lot of fun things together! Take care and definitely keep in touch!!!