At 10:03am on September 29, 2008, DanielsDad said…
Hi Jennifer, You would be the closest ones I know anywhere near us, which is in Palm Coast, dealing with this...Our son Daniel is 10. Tell me more about this Florida group and how to get in touch with them. We have been around PPMD for a while now, but I havent been active in the forums in quite a while. Its very different now, than what I remembered seeing.
Your kids are precious!!
You asked about my children. Maddie will be six in October, Beau is 3 1/2, and Amelia is 2 1/2. Beau was diagnosed with MD last fall. We didn't do the biopsy to verify which type, but we are assuming it is Duchenne because of his age and weakness.
How is Ryan?
Beau is doing great. He is running, climbing, and walking up stairs. His biggest issue right now is getting his drool under control. He is on medication for that, but it only gets rid of about 50% of the drool. Does Ryan have this issue?
Thank you! Thank you! We were definitely pleased with the answers the biopsy gave us. Wyatt did have a dna test, which is what prompted us to have a biopsy. His deletions are 45-46 in-frame, which usually leads to bmd but in 10% of cases, it is the dmd phenotype.So, we wanted to get to the bottom of all this by finding out why he was dmd and not bmd--what else was going on at the molecular level to make him dmd. And obviously we hoped and wished that he was bmd and didn't fall into that 10% area!
Thx for the tidbits about hypotonia--I hope we aren't in that 50% category. Maybe when I've had time to let this all sink in, I will pick your brain about hypotonia=)
So, do you know what Ryan's mutation is?? Or did they just leave at the either or statement? I hope you get some answers at your mda visit.
Thx for "stopping by!" And let me know how your visit goes.
I don't but one of my best friends has 2 nephews who do. I do 2 fundraisers a year (with my business....Cookie Lee jewelry) for her to raise money for research for MD.I donate 50% of the profit . They have been very successful and she is determined to help in any way she can.
Karsten is 19 months old this week. He was diagnosed at 5 months. His diagnosis was early and caught only because of some unexplained blood tests. When he was just 6 weeks old I had to take him to the ER, he was very sick with a GI infection. They drew alot of blood and did lots of testing and could not explain why the CPK levels were so high. After a few weeks we did more testing and his levels remained high. First we thought it was his liver, but after even more testing that was ruled out. His persistiant pediatrician suggested Genetic testing and he suspected MD. He was right. Karsten has a deletion of exons 33-70. Your family photos are great, you have beautiful children. Karsten is my only child, but I would love to have more one day.
I totally know what you mean about the time--where does it go??? I hope what I said made sense with regards to the utrophin--I didn't dig out my notes from the conference and I was tired so who knows what I said;) That is the one I hang my heart on, along with the other meds that will be part of the "cure"--the cocktail that they refer to!
I am excited to say that Wyatt's biopsy results were great news to us. Dr. Wong called last Monday and said that he has 25-50% dystrophin, which she said puts him in the mild to moderate bmd category! She says he has low muscle tone (hypotonia--know nothing about this, so am going to start learning) which is why he walks the way he does and shows poor strength for his age. So, in Feb. when we see her again she wants to run some metabolic tests to figure this all out. She said it (the hypotonia)is usually benign--but the "usually" has now got me worried--still so grateful for the news of the bmd but worried at how the hypotonia might affect his md!
Sorry to hear the clinics in Florida are not up to snuff! They really do need a better standard of care for all of their cllinics that focus on the whole disease--the heart, lungs, pt, genetics, bone care, etc! Maybe some day--at least we have ppmd to keep us informed so we know how to best proceed with the information we are given. Hope your visit to Duke is uneventful=) Talk to ya later! Jill
Hey Jennifer! I read your post on Danielle's blog and saw your question about utrophin. I don't know if you had your ?'s answered or not but figured I could tell you what I know. I feel that there is high hopes for utrophin. Trials are supposed to start in the first part of '09--Jan. I think. This is what a fetus produces in the beginning, not dystrophin. By the end of the pregnancy, the utrophin has tapered off (not completely--you and I still produce this) and dystrophin kind of takes over. They are very similar but not identical. One awesome benefit of utrophin is that it will work (in theory) for 100% of dmd boys!!!! Another great thing about utrophin is that our bodies are already producing this, so we should not see a negative "reaction" in the boys--their bodies should not treat it as a foreign body. I think the hope is also that this should make for a more "simple" trial--if there is such a trial, with not many obstacles to overcome. The company that presented at the conference was based in England and I believe the first trial will only be there, but not positive. I was getting kind of depressed at the time line while at the conference until John Killian (from ppmd) reminded us that it was only 3 yrs. ago that ptc 124 was just getting going and now they are in the phase 2b trial and it should on the market in a year or so if all goes well with the trial!! This is a very, very lame little tidbit on utrophin but figured I would tell you what I knew, even if limited!
Hope you are still loving the sunshine state! Talk to you soon! (and excuse any typos--I am so very tired as I try to type this=)
Hi Jennifer...I've been a member of PPMD for many years...just joining the new featured one they have. I love it. Yes we are in Gainesville, not to far from St. Aug. So we should try to catch up if all possible.
I would enjoy learning more about your family's experience with MD. If at all possible maybe we could speak on the telephone, which seems to work better than chatting . My number is 903-926-1501. Please feel free to send me your number if you feel comfortable so that you can be spared the long distance charges , as this is a Texas number. Let me know a time that is good for you.
Thank you Jennifer. We are happy to join the Florida group. We live in Pembroke Pines, FL which is about 30 minutes NW of Miami. Just west of FT. Lauderdale. My son Daniel is 10 years old, he is permanently in a power chair since about 3 or 4 months ago. We are very excited about staring in the next few weeks his treatment with PTC124. We will keep in touch. Thanks again
Thank you for the invite. I would be happy to join the Florida family. I am a native of Florida ( never left the state), and reside in Tampa. My youngest son ( 15 yr old ) has DMD. I would like to stay more active with PPMD, but he takes most of my time and energy- if you will.
I will also try to post a few pics in the near furture to my home page.
Thanks for the welcome. We are going to Brennar's Children's Hospital in Winston-Salem right now. We've had two clinic visits and things are going pretty well so far. We like our MD - Amy Harper. She is very receptive to our questions and concerns. The frustrating thing for us is that we moved from Cincinnati about a year before Brad was diagnosed. It was our choice to move to be near family and at the conference in Philly we found out that a lot of people travel to Cincinnati Children's for their clinic. If we had known, we would have stayed. Oh well...
How is your son doing? Is he on medication yet? We are in the process of obtaining deflazacort.
Jennifer, I'm sorry to be so delayed. Please let me know a good time to call and your phone number.
Please feel free to reach me on my mobile 917-578-1841. I am out tomorrow morning, but should be available after 1 pm.