Hi Tonya: I don't feel attacked and I certainly don't blame anyone out there for wanting as much information as possible and wanting to know what to do to move things along. I think the problem is that it's hard to be angry at a piece of DNA that is the cause of all the trouble--it's easier to get angry at people whether that's the FDA, the companies or funding organizations. The FDA has been given the almost impossible mission of trying to protect people from bad drugs while be ridiculously understaffed--that being said, they also need to be able to review new technologies like exon-skipping more quickly and sometimes a little bit of activism is the only thing that can bring on that kind of change at a government agency. There's going to be a meeting this Fall co-sponsored by the FDA on exon-skipping and it will be Webcast. The FDA is also seeking public questions and commentary--we'll post the info for commenting as soon as we have it. I ruge everyone to send in questions and comments to provide the parent's persepective.
Joshua weighs 46lbs and is almost 7 years old. He takes 150mg of idebenone and his neurologist suggested he could start taking it 2x per day now. Gavin would probably take the same original amount since the weight isn't too far off. I will add the sites I went to to find out what it does and where I ordered them from.
I hope this helps. If you have any other questions, don't hesitate to ask. He had a walk test where he walks for 6 min. and they count the steps. Before he started his walk idebenone, his steps were 222 and 3 mo. after taking it he took 397 steps. Everyone was quite impressed. Even physio is much easier! Take care.
Nice to hear from you. Congratulations to you and your family! I love the name! You need to upload a photo or two. I need to add more photos myself but do not have time with 2 kids and job… L
Robert is doing fine so far. We do not see any symptoms in him, he might be a little slower when he runs but it is not very obvious at this point. We also want to start him on steroids at 3.5. Thank you so much for letting me know how you give it to Gavin. Do you see any side effects at this point? Any improvements?
Hinge III contains exons 50 and 51 so our boys, after having exon 51 skipped, will have hinge III missing. Some papers say that that’s a good thing…but we need to wait and see what happens in the trials…
I recently talked with Steve Wilton and asked him how soon he thinks that exon skipping can be approved (if all goes well in the trials). He said that it will take the next 2 years or so to figure out the dosing and frequency of administration. I hope they get it approved in 2-3 years. Then I asked him if starting around age 5 will be ok in terms of slowing the progression and this is what he said:
Hi Ofelia, I believe you still have plenty of time. The reason young children are not recruited is that this is still experimental and has not been validated.
It is necessary to work out doses and frequency of administration. This wil take at least a couple of years and by then I would hope exon skipping is shown to work and dosing protocols will have been worked out.
I'm sorry it took so long to get back to you. I just say your note today.
We all have some semblance of "no hope" with lack of therapies and clinical trials. It's practically all you hear when you go to your first appointment. Not because they are not saying things that are hopeful, but because your mind easily filters and focuses on the part that is most devastating to us. I spent the first 6-9 months morning the diagnosis, as if my son was going to die tomorrow which of course is not true.
My son saw Dr. Apkon only once, though I had been in contact with her at least a few months prior to moving to Colorado and several months after the appointment. I always felt she was easy to talk to, very aware of the research going on around the world, willing to answer any of my questions or point me to the right person. She seemed like a patient advocate to me. I've heard the Seatlle clinic is not as optimal as some others in this country, but still far better then most. I certainly believe Dr. Wong's team is the cream of the crop, and willing to speak with any parent regardless if they are direct patients.
One of the best things you have going for you in Seattle, is the fact their hospitals and research staff are well known for their expertise in cardiology and pulmonology - the two most critical areas for our boys as they grow older and the DMD progresses.
I hope this brings some ease. I suggest going to check the Seattle clinic out with Dr. Apkon. It's just one visit and if you are not satisfied, you can always go back to Dr. Wong. Additionally, you are your sons best advocate. If you feel you are not getting the service you want, it is your right and obligation to insist upon it. In any medical situation, this is the best approach anyway. Let me know how it goes.
Thank you for your kind words hun. It means a lot to me. I'm so sorry that DMD has affected you're family so much. A lot of it is just finding the right attitude and not dwelling on all thats lost. If you can find something you're good at you can concentrate on that and the rest of it don't matter. It's the brain that needs occupying lol
I'm sure your son will grow into a fine young man whatever DMD throws at us.
I will let you know as soon as I know. When I talked to them originally the next appt. was November, but Wendy didn't want to wait that long, so I was thinking sometime this summer, not next week. We feel really fortunate that they are taking Wyatt as a patient. I better run outside now, before the sun is gone.
We were so glad that we got to meet Pat, too. What an amazing lady. It was one of those things, where everything just fell into place, just right. I'm not sure how the email conversation between Pat and I got to her telling me she was coming to Seattle. But as the conversation progressed she and I agreed that if we could meet that would be great. In the end, Tom and I drove to Seattle and meet with her in her hotel lobby. She's a remarkable woman, and we feel blessed that she is on our side. She is so energetic and you can totally tell that "stopping" DMD is her passion. She is a talker and I love that. Sometimes it's still hard for me to talk about what is down the road for our family, but she is so easy to talk to. As you know, she really understands. We talked about his weight extensively and when I showed her his growth chart she said to us, "I will introduce you to anyone I know that you want to meet". She also talked extensively why many hospitals around the country can't do what Cincinnati can, so in the end, (after talking to you, char and pat) tom and I decided that Cincinnati is Wyatt's best chance. We talked about many different trials, but absolutely I'm keeping my fingers crossed for exon skipping 51. So much is going to change so quickly that our heads are going to spin. I can't wait to see what is going to happen. We talked about alot of different options, but for now she said to do the stretches and then wait on anything else until Dr. Wong does all the tests. I think you and I will be wonderful support for each other. I'm glad I met you too, it's nice to talk to someone who understands. As soon as I know when we're going to Cincinnati I will let you know. Thanks for the encouragement. Sadly, the weekend is almost over, but the laundry is almost done, so maybe I'll get to go outside and enjoy the small amount of sun.
How are you? I hope your kids are enjoying the half way decent weather. I just wanted to let you know what's new with us. We were so lucky to be able to meet Pat Furlong while she was in town last week. She's amazing. We talked quite a bit about Wyatt's weight (16 pounds 7.5 oz. at 14 months) and she's concerned about it, as we are. She recommends that we go to Cincinnati asap so we can address the weight issue. I will let you know how that goes. I continue to appreciate all of your encouragement. Have a great weekend. ----Melissa
Yes, every baby should have a CK. And since a CK is so easy, they are taking blood from the baby anyway, they can add one more test. Since CK was the way they could tell before DNA, I don't see the problem. By the time Leigha has kids, I hope that DMD is a completely different "being!" But hopefully moms in the future won't have to fit insurance companies to help them have healthy kids. In the long run, isn't a healthy kid "cheaper" for the insurance company anyway???? I feel hopeful for our sons too, with every passing day, the more I learn the more scared I become, but also the more hopeful I become. I think it is still just so new for us still! But with people like you supporting me, it's not easier, but more managable. I felt like that at first too (did I want to know?) drs. made me feel like I got "robbed or something" that I could have spent 4 years of happy ignorance. I felt that same way about other families. I see these people on the news who are hurting their babies and I scream at the TV (don't they realize how great it is to have a healthy kid). Probably the hardest day for me was the day AFTER we found it. My son Brady was turning 4. And we had a huge party. (At this point only Tom and I knew, we hadn't talked to our families). My dad walks in the door with my neice who is about 5 months younger than Wyatt. He hands her to me and I couldn't hold her, I almost dropped her. I felt so sad for Wyatt but then I felt so guilty that I coudn't hold the neice I adore. I was a mess! Wyatt's amazing and truly that is the only thing that keeps me going. It took my fifth baby to have one that wants "Me" not Daddy. He is my cuddle bug and I am so lucky to have him. It's a double edged sword, I'm so glad I didn't know before now, because then I would have made different choices in my life (maybe) and I wouldn't have this wonderful little man in my life. But then of course I wish I could take away the struggles he is going to face. But as Moms and Dads if we don't fight for our babies no one else will. So I'm ready to fight! Tonya thanks for everything, I truly appreciate all of your support. Have a great weekend.
I didn't know that something like PDG/IVF even existed. Obviously, I've heard of IVF, but PDG/IVF might be an alternative for my daugther some day if she turns out to be a carrier. Is there something with umbilicial cord blood in the research stage? It's nice that things are moving fast, the sooner the better right. We don't have any family history, that we know of, my moms sisters and her parents have all passed away, so I guess we will never know. I think I mentioned that my mom and my daughter are both being tested in a few weeks. But I would be very surprised if my mom is a carrier. I think it was a new mutation in me when I was being developed. We have so many males in our family, you would think if we had a family history someone else in our family would have the mutation, beside Wyatt and myself. Why they don't just do CK tests at birth? They don't cost that much and since 1 in 3500 boys can have some type of DMD mutation, you think they would do that. They test all kinds of other stuff why not a simple CK? Pat told me that Wyatt is a canidate for exon skipping 51, but thank you for confirming that, I've gotten so much information, I wanted to make sure I understood Pat right, and you confirmed that I did. It will be an educational journey that is for sure. Thank you for all of your support. I had one of those dark days yesterday you were talking about, so having you to talk to helps alot.
Wyatt has a deletion of 49 and 50. We would love to see Dr. Wong, I'm working on that now. Char gave me some contact information, so that's my next step. Preserving muscle is my thought too, why wait? It doesn't make any sense to me. I will let you know how it all goes.
I totally know what you're saying about family and friends, just don't "GET IT." We have a son with Asperger's Syndrome (Autism) who was diagnosed about 4 years ago, so we're very familier with the don't "GET IT!" and you are right, that is very difficult. I feel the same about Children's Seattle. They want to be supportive and I don't doubt for a second that they have Wyatt's best interests at heart, but you're totally right, they want to wait and see, and we DON'T wait and see any aspects of our lives. Our son is 13 months (on wyatt's page, you can read his story, if you want) and we don't want to wait 3 or 4 years for symptoms, we want to help him now. Everyone keeps telling us you must have found out so soon for a reason (I guess a lot earlier than most), so why aren't we doing anything. I want to do something, and I think this parents group is just the beginning. When I first met Pat Furlong on line she asked me, "are you ready to roll up your sleeves and get dirty?" Absolutely. Where do I start?
Tonya, Thanks for the info. We do go to Children's once a week for a half hour lesson. They are individual ones and they are great. Other DMD boys go - Aidan Leffler. The more you purchase of lessons, the cheaper they are. This is excellent exercise for the boys - no muscle stress and it's important for them to get used to water...and how to swim. It helps them later on when they can't move as much. I highly recommend it. Call Children's and ask for the therapy pool. You may have to get on a wait list. We live near Children's so maybe we can meet up - although Will's in school and I work. But, I think Sat. they have family swim....we could meet you there. Char
Hi Tonya - thanks for the email and it's good to know that your son is doing well. Will will be 7 in August. He is seeing some of the effects of the deflazacort and I am very concerned about hid weight....and lack of lateral height (due to the steroid). I wanted to get him on the GH therapy but Dr. Rutter, endoc @ Cincinn. said he didn't qualify. He is having a sleep study at the end of the month for sleep apnea. DMD boys have larger tongues and that could be causing a lack of oxygen during sleep. So, sure I will take Ralph's phone #. Thanks. Char
Hey we were at Dr. Wong's in Feb. and I asked the doc. that took the updates - Dr. Pierre - this was before Dr. Wong came in - and he said that they weren't recommending the Haelan - that is was actually manufactured in China. Did you know that? I am torn about giving it to Will. Am interested in your comments....on this. Thanks.