Hi Stephanie - Thanks for checking in. Will just celebrated his 9th b-day! While it's exciting, it is also stressful. He is still on the diamox but the optic nerve has gone way down and is in the normal range. The opthomalogist said that the nerve pallor is still pale. I would anticipate that he will be off the diamox soon.
Will has a duplication of 54-57 which is one of the more rare mutations. My concern is that the exon skipping will not help him. The myostantin clinical trials were put on hold due to the side effect of the gushing nose bleeds. There are other therapies out there but I don't think that there are close to coming to trial. Uptrophin, laminin, micro dystrophin - all will take time. I am hoping that there will be something for him. He is not at the mild end of the DMD spectrum - which I have heard that Sam is at. He struggles with stairs, can't jump but he is still ambulatory and for that, I am thankful. I truly believe Dr.Wong is responsible for how great he is doing.
If you do hear of any type of therapy that would benefit duplications, please let me know. I am rather disappointed that there hasn't been more money invested in research that could help the non 50 or 51 deletion mutations.
Hi Stephanie - My name is Char Burke. We have an 8 year old with DMD. Recently, I had posted on Facebook and PPMD about Will having an optic nerve that is elevated. He has been on GH for about a year now and deflazacort as well for about 4 years. We go to Dr. Wong annually and live in Seattle. He is scheduled for an MRI and spinal tap next week which I wish he didn't have to do. But, neuro here and Dr. W. want to rule out any issues with possible brain tumors. The neuro here told us that if the spinal tap comes out with pressure, she said no more steroids. As a mom of a DMD boy, I am sure you know how stressed out the idea of taking the one drug that keeps the disease at bay. Lori Ware emailed me that you had been through this with Sam and said I should contact you. I am anxious to know if you were told the same thing about discontinuing the steroids....One thing that I can't help but wonder is how long does it take the GH to get out of one's system? Will has only been off the drug since about 2-3 weeks ago. Plus, I had researched that optic nerve can be elevated due to other things - vitamin A - excessive vitamins, etc. Please email me here or at firstname.lastname@example.org thank you very much and it's good to see that your husband is recovering from that horrible accident. Char Burke
How are you and your family? Good I hope. We are going to Cincinnati tomorrow. we are very gald it is here. Hope your trip went well. I hope ya'll had a happy Thanksgiving. i will send message when we get back
We've known for awhile that something has not been right, I guess since he was 4. Everytime we talked to his ped., she would have him do certain things and everything always seemed to check out. It wasn't until last summer, about this time that we were at the pool with some neighbors. She is a physical therapist and her husband a physiatrist. She noticed that as he was getting out of the pool using the ladder and going off the board, that he seemed to be weaker on his left side. I was so glad somebody was seeing what we had been seeing! She thought pt might help to make him stronger. So, we got in with a pt and did 1 hr sessions each week all of 1st sememster last year. I have to say I wasn't really noticing a big difference. Things got busy 2nd semester, so we went to 2x month. It was in April, that we decided to get him into see a neurologist. I took him back to his ped just to let her have another look at him. I don't know if I was saying more for her to look at different things, but some of the exercises were a bit different and she ordered the cpk test. Results came back next day at 13,811. That sent us to Indpls about 3weeks later where we saw a specialist and had genetic testing done. The md definitely said it was a form of md but needed genetics to determine form. On 6/29- Duchenne's.
I had my really dark time from 5/20-6/17. Decided I can be sad in living in constant fear and my children see this and live the same way or I can live in the present, have faith in God and enjoy life for what it is. Thank God we are blessed with wonderful friends and neighbors! I know it is the prayer support that is helping us along!!
We got into the Cincy system the first week of Aug- total awesome experience. We are awaiting the Deflazacort- should be coming any day. We have his night splints and doing the exercises religiously!!
My kids go to a Catholic school and they have been great with everything- almost going overboard but we want things to be as normal as possible with some exceptions- PE. I think that is the hardest part- letting them be a kid but yet knowing when to say when!
I think I talked with your husband via email back in late July. I want to get involved with fundraising and inquired about Coach to Cure. We are tix holders at Purdue and thought I could do something there. Anyways, Cincy happened and then school started back and I feel like I just have dropped the ball on that. I think, since we are so new to this and getting in with Cincy, our feet are just super wet at the moment.
Jonathon is doing great with everything! I love him so much for that!! We feel he does really well and never ever complains.
Am curious about your story. Glad to connect.
Hey, SStefanie-it has been awhile since you were here, and am sure lots has happened in the Killian family. Are you not tired of this hot weather? Soarry we were not able to make it to Atlanta. am sure we missed some good stuff, but do have good news. We finally got an appointment with Dr. Wong for Dec. 1. That is still a long way off, but at least we have one! How are you all doing? How is Sam doing? Peyton is not doing well getting around and uses his scooter more and more. The Deflazacort didn't seem to do anything except give him "moon" face and put extra weight on, so he has been weaned off of that and we will wait and do nothing more until we get advice from Cinn. Hoping to make it to Sam's Day. My best to you all. Jean B.
It was nice to see you in Atlanta. hope all of you had a safe trip home. we look forward to getting involved in PPMD this year. we got alot of great ideas from everybody at the conference. we also bought Josh's book and look forward to learning from him.
Thank you so much for writing me back. Does the deflazacort keep making improvements as he grows. That would be crazy if he is upregulating utrophin!! Is that why my doctor finally looked at me with real hope. That the utrophin will help our children with large deletions he told me it will put the breaks on it. I don't know who your doctors are by I go to CHOP in PA and I see dx Bonnemann who is knee deep in research and is on a first name basis with dx Chamberlain out in Washington. I will pray so hard for Sam. I think Tanner is doing great also. You made my day!! Are you going to the confrence in Atlanta?? I would love to keep in touch with you if you wouldn't mind. Thanks again Dana
Hi Stefanie, My name is Dana Edwards and our son Tanner 5 this week has deletion 3-36. We are very rare I only know one other person with 3-30 missing. I read your testing results. I find it strange that Tanner is so strong. He does walk a little slower and comes up stairs holding on to the rail. He's been on steroids (deflazacort) for 3 months. Our doctor told me that there is a man age 80 missing half. He has BMD. I don't understand any of this but I was wondering did your dx explain to you about utrophin? Mine said it would put the brakes on an in frame deletion. I hope you don't mind me asking you. I have 6 kids and he is my youngest. This is all very scary. I hope you get back to me. God Bless!! Dana
Crazy!! Im sorry you dont have any answers but maybe give it some time. You said they sent some other samples off to research so maybe they will come up with an answer. Keep us posted for sure. Tell your family I said Hello and we think of you guys all the time.
Any word from Dr. Wong's nurse? I can not believe it is taking so long. We havent heard anything yet but Im sure it will be as along as you waited to. Ugggg. Frustrating. I know we all just want some answers.
Hi there! Havent talked to you in awhile and was just thinking of all of you. Have you heard anything back on the biopsy yet? It will be 4 weeks on Friday for Michael's biopsy. How long does it take for results? I hope you are doing great and tell Sam that Michael says Hi. Oh, Michael got his boots and he was so excited that they were like "Sam's Boots" It was cute.
Hi, Stefanie - Amber is so greatful for your help concerning the Deflazacort. They are talking about going to Atalanta. When is the conference and how long does it last? We would have to consider the time and what to do at the theater if we go. Hope all is well with you and Sam is doing well after the biopsy.
I'm not going to conference. It's the same weekend as a family vacation that has been planned for over a year. I always enjoy getting all the notes and try to read through them all even though I don't get to go.
It's good to be friend with you. I've met John at several MDA events and we attended Sam's Day this year. My family loved it - eventually we would like to get something going like that in our neck of the woods.
Hey, just checking in with you. How are things going? Michael still talks about his friend Sam. It is really cute. 4 year olds crack me up. We are headed back to Dr Wong on the 7th of May. His biopsy is on the 8th. How is Sam doing after everything? Tell John we say Hi and give Sam a Hi-5 from Michael.
Stefanie, thank you so much for letting me know that Shelley received a transplant! I have been praying for her all week! My east email is: email@example.com. I am with some girl friends in Oklahoma for
The weekend and am greatful to be able to get positive info. on my phone
Thanks again! Deb
I will keep them in my thoughts and prayers! FYI: Ben did the Growth Hormone test and was pretty tired after. They scheduled a sleep study and PFT's after and the results were off, so just check the schedule of tests afterward. Sam is younger, so he may not be as tired as Ben was.
Stefanie, OMG I knew she had an illness, but had no idea it was that serious! Please keep me posted.. I can't even imagine. What is a stim test? Did you say you were sending the biopsy to someone. I need to e-mail Flanigan again and ask him to send some information to Lee regarding Ben's mutation and potential for PTC 124.
Hi Stefanie! I saw your post that you are going to Cinn. for a long visti. Are you taking the whole family? Ben is starting drivers Education-That is a scary thought, huh! I will let you know when he has the blue van on the road. I can't believe most of his conversations are about College search. He is growing up. How is your family doing? Deb
OK, I found Douig and sent him a quick little note. How's everything with you? I think on Tuesday it was warmer here in Chicago than in TX. It's supposed to snow tonight though ... sweet! when do you go on spring break?