Hi Jessica we are arriving Monday staying at Hannaford Suites we will be there until friday Sleep study on tuesday night tests on wed and thurs dr, appiontments leaving on friday. Let me know what your schedule is would love to meet up
Nice to know you. My name is Van Anh, I live in Vietnam, and my son have deletion of exon 18-25. We all need exon 17 skipping. And my son was diagnosed just in early this week. He is 17 months now. Hope to be your friend.
They are doing great and how is your son? I hope he is well, you are one of the first people that I have met with a son with a deletion so similar to my boys. They are very special and they are the ones who show me what living is because they never give up no matter how tired they are!! Have a great day!!
Thanks for the comment. Don't give up on Exon Skipping yet. 'Im not an expert, but what I understand about exon skipping is this.
Exon Skipping attempts to restore the Reading Frame in the Gene. What our boys have is large deletions in the Central Rod Domain of the gene. The deletions causes an out of frame condition. Skipping one exon in each boy will potentially restore the reading frame. For Dylan this is Exon 44, for Wyatt, this will be Exon 17, or Exon both Exons 42 and 43.
If the reading frame is restored, the theory is that a functional form, but truncated Dystrophin protien will be produced. Look up the following link... http://www.actionduchenne.org/duchennepedia/article/15/exon-skipping
Boys with beckers can have large deletions, especially in the Central Rod Domain of the gene. but the reading frame is in place. This enables them to produce Dystrophin. I have read reports of Men with large deletions in the dystrophin gene, that were not diagnosed with Beckers until they were in thier 20's, and older.
This is the Goal of Exon Skipping....to produce a form of Dystrophin that will help our boys. Obviously, the efficacy will be different for each patient, but a limited form of Dystrophin is better than none!!!
Again, this is my understanding of what Exon Skipping can potentially do for our boys. But, I'm not an expert.
Thanks again for sending a comment. There is hope out there for our boys. I remember the day we got the diagnosis....3rd April 2009 at 3pm. We were devestated!! But there are small glimmers in light out there for us!! All we try to do is be positive...and do our best for Dylan......
Congratulations. Please don't worry about getting that stuff to me, just when you can, you have your hands full that's for sure. I knew that you were having a baby, I just didn't know when you were due. I hope the little one is well. Take care of yourself and your new sweet boy. Talk to you soon.
Jessica, Hi how are you? It's been about a month since I talked to you. You had mentioned that you were planning on attending the Atlanta conference and could possibly send me a copy of your notes. I would appreciate very much if you could do that. I hope "your Wyatt" is well. "My Wyatt" is doing great. At 16 months, he's now crawling on all fours, pulling himself up and crusing around furniture. He's a climber, yesterday he climbed onto the door of the dishwasher and just sat there. It was so funny. Take care.
I accidentally erased your email and now I am not sure of what it is. I am looking forward to Wednesday. I wanted to talk to you about the plans. Email me again and this time I will keep your address. Or you can call my cell at 832-573-5830. Talk to you soon, Kim
My husband is participating in the PPMD Run for Our Sons event in Seattle at the same time as the conference, so unfortunately, we won't be attending. I would love if you could please send me a copy of your notes, that would be great. My Wyatt swims too, and does he ever love it. Have a great day.
Hi! Wyatt is beautiful! When are you due? It's a comfort to see Wyatt playing T-ball and looking so great. Keelan's so close to walking, and is working on the talking. He had an upper resp. infection pretty much all winter, so now he seems to be going through a developmental growth spurt.
Hooray! I'm looking forward to seeing you and your Mom again. Just got a PPMD email about the South Texas FACES Duchenne kickoff mtg. that will be held in Houston at our church in April. Pat Furlong and Ryan Fischer are coming!
Hope all is going good with your family.
You can get Calm 4 Kids at any nutrition store. It's made by Hyland's. It contains aconitum nap., calcium phos., chamomilla, cina, lycopodium, nat. mur, pulsatilla, and sulphur. They disolve on the tongue. Joshua stopped having bad dreams and crying in the night because his legs hurt. We ran out at one point and my husband picked up a different brand, but it didn't work as well. The Hyland's brand is the one I really recommend. We noticed a difference within 2 days. You can use it throughout the day as well if needed.
I read the message board a good bit but not big on posting. However, I wanted to say Congrats! to you and Patrick and I always love seeing Wyatt's big, beautiful, blue eyes. He is so precious. Wishing you a Happy Valentines & a great Mardi Gras.
Somehow I stumbled up the fact the you are pregnant..yea!!... and that you did the PGD invitro. I have just in the last 24 hours been looking into this. We have three children, but really want a fourth. This would be our first experience with in vitro, so I am pretty clueless. We don't know if I am a carrier of beau's deletion. We would love to have another child and if I am a carrier, we would love to explore PGD. Are you a carrier? Did you do the it locally? I have so many questions and know so little. Is there a good website? ....So many questions..... I would love to hear your story if you have time.
Thanks..... Emily Gregory
Hope you and Wyatt are doing well. I took Neel to his first MDA clinic appt last week. Neel is 2 and the doctor recommended that I put him on Juven and Idebenone. Have you started Wyatt on any supplements yet? At the appointment the doctor also stated that he thought Neel's duchenne was leaning more on the severe side and the weakness that he saw he usually did not see in a two year old child. Scares to me think how progressed his md is already. How is Wyatt doing? Did you find out anything new? Keep in touch. Thanks. Kulwant
HI- When Patrick was 2 we went to the pediatrician for a regular check up, the doctor asked if we had any concern or questions. That is when my husband Rich said that he was worried that Patrick falls down a lot and is not walking as good as our other son, Kyle, when he was 2. The doctor picked right up on this and felt Patrick's calves and said he wanted to do a simple blood test to check his CK level. A few days later the doctor called me and said his level was > 33,000. Then we did the DNA deletion test and that confirmed DMD with exon deletion 8-29. We are going to CHOP in December to see a team of doctors and hopefully get somemore insight to what exatly the deletion means. I have noticied that there many different deletions and am wondering if there are any correlations with the deletions and progression of the diseases. Wyatt is so cute! Thanks for sending a coment. Jess