How was the summer and your trip to Italy? Any news on the trials? I am waiting anxiously? How is Liam doing? Ryan is doing fine. Ready to go back to school in 2 weeks. The conference was good. They said the trials should be here by end of this year or early next year. Do u know anything more ?
Are you coming for the conference to Atlanta alone or with Family? I am coming alone and planning to stay in the Marriot the conference is in. This will be my 1st conference. If you are alone we could share a room. Let me know what you think. My email is email@example.com.
Like Liam, Ryan was slower than his classmates and i always thought that is the way he is . never thought there was something wrong as it is not there in our family at all. In october the PE teacher at his school saw the modified growers and raised an alarm. On getting the Ck checked it was 6000 and the the genetic testing thru Athena showed a deletion of 48-50. He still runs but not like other kids, and is very active. will never get tired. I will email Dr. Hoffman to find out more about the biopsy. Also let me know when you find more about the trials.
I remember two years ago when we learned that Jacob, 5 at the time, had DMD. For two weeks Donnie and I walked around like zombies with tears in our eyes. We could barely function. Finally we realized that wasn't making things any better for any of us and we went to work. We joined the parent project board which is made up of parents just like us who have a wealth of information to share that helped us enormously!! I think you have to give yourself a short time to grieve for your son then start learning all you can to help him, yourself and the rest of your family.
There aren't many general practioners or pediatritions who know much, if anything, about DMD. We found Dr. Wong at Cincinnati Childrens Hospital through the board. We've been seeing her since July of 2007. It's a long way from Columbus, Ga. where we live but we have to do what we have to do to get him the best care available. Just remember you're not in this alone and we're all here to help each other. We'll keep you and Liam in our prayers.
Thank you for checking up on me. Things are going well, we try to live day to day and make the best of everyday. My kids are always so busy running from one place to the next.
How are things on your end?
Hi! I am so very sorry it has taken me so long to respond to you. We have been crazy busy with evacuations and such since we live in southeast Louisiana. Everything is finally settling down. I am so glad you wrote to me. The cloud does go away but it comes back to visit every now and then same as with almost anything else. There are good times and bad times. I am actually Brogan and Liam's aunt. My sister-in-law is their mom. She has a page on here too if you'd like to invite her to be your friend. She's listed under my friends. Her username or whatever it's called is Michelle LB. I'm sure she could give better advice about dealing with DMD on a daily basis than I could. How is your son doing?
Thanks for the info on the exon skipping, I hope it works out and we have some hope that things will be better. My son has deletions 3 to 7. Not sure what the W stand for in the tables.
We see Wong in Feb, I will let you know my opinion on the trip once we get back. Feb sounds like a long time but it will be here before we know it, my son is excited to go, he is hoping for lots of snow, we never see snow here in Southeast Texas. It's good he isn't focusing on the Doctor visit. He can't stand going to a doctor any more, we can't tell him unless there is a bribe to go with it. We have 2 appts this month in Houston with a Cardio and a Nerologist that work for the MDA here. Can''t wait to see what they have to say.
You asked how I was dealing with it, I try to read and learn as much as I can on DMD so I can be the best advocate for my son as possible and get the best medical we can. It helps me to think that I'm going to find what ever info I can to help my son.
Sounds like you have some great Doctors close by.
Keep in touch and let me know how Liam is doing and if you hear any more about possible cures.
Thanks so much for the table. Sounds like our kids are in good shape considering. Which deletions does your son have? And - when I look at the chart of deletions, under the type - either DMD or BMD, there is a "W" listed. What does that stand for? Have you been to see Dr. Wong before? We actually have an appointment to see her for another opinion this January, but we feel that with Dr. Leshner here is DC with CHildren's and the Wellstone Center is among the very best in the world. Dr. Hoffman is the director of the center and is the pioneer in genetic research. I have heard wonderful things about Dr. Wong - hence our planned visit. I would like to get your though on Dr. Wong - and how you are personally dealing with this news. We just got the word last June and constantly live with this cloud overhead.
Also - this is a great abstract which our doctor feels will change the face of this disease.
Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy.
Takeshima Y, Yagi M, Wada H, Ishibashi K, Nishiyama A, Kakumoto M, Sakaeda T, Saura R, Okumura K, Matsuo M.
Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe 650-0017, Japan.
Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease that is characterized by muscle dystrophin deficiency. We report that intravenous (IV) infusion of an antisense oligonucleotide created an in-frame dystrophin mRNA from an out-of-frame DMD mutation (via exon skipping) which led to muscle dystrophin expression. A 10-year-old DMD patient possessing an out-of-frame, exon 20 deletion of the dystrophin gene received a 0.5 mg/kg IV infusion of an antisense 31-mer phosphorothioate oligonucleotide against the splicing enhancer sequence of exon 19. This antisense construct was administered at one-week intervals for 4 wk. No side effects attributable to infusion were observed. Exon 19 skipping appeared in a portion of the dystrophin mRNA in peripheral lymphocytes after the infusion. In a muscle biopsy one week after the final infusion, the novel in-frame mRNA lacking both exons 19 and 20 was identified and found to represent approximately 6% of
the total reverse transcription PCR product. Dystrophin was identified histochemically in the sarcolemma of muscle cells after oligonucleotide treatment. These findings demonstrate that phosphorothioate oligonucleotides may be administered safely to children with DMD, and that a simple IV infusion is an effective delivery mechanism for oligonucleotides that lead to exon skipping in DMD skeletal muscles.
I saw your post some where, you were asking about the older boys with this diease. My son is 8 1/2, he was diagnosed mid July 08. We still don't have the signs that most boys his age and younger have, he does well with any thing as long as it is in short durations, like relay races. If its long term he can't keep up like running back and forth in a soccer game. I think that is why he likes golf. He can move at his own pace
I still would not know he had DMD if I hadn't taken him for ADD testing.
No telling how long before the DR's would of discovered it, he does stairs well, he does not toe walk or have a waddling gate. His calves are no different looking they any other kid his age and size.
The Dr's made him sit indian style and then get up, he had to do it 5 times and on the last time he had a harder time getting up as fast. They told us that was a sign, I couldn't get up that quick the first time.
Except for the lack of endurance with some things he seems fine. He would bounce all day on a trampoline if I let him. I hope as you do ,that the later the onset of symptoms the later the progresstion of this horrible diease. I will feel much better after we see Dr Wong and get her take on him.
You were asking about the deletions, there is a website out of Utah that has a datebase with all the deletions and and how many boys with the same deletions who have DMD or BMD, my son's deletions there were more cases of BMD with his deletions not that this means any thing, but it does give me a little hope , here is the web address>
Sounds like you all have a wonderful family. I'm glad to hear about Austin's triumphs - he seems to be very amazing. This disease is so interesting and horrid at the same time. Liam showed no symptoms what so ever of the disease until he reached 1st grade when he was invited to a bring your own bike party. Most, ut not all kids were riding aorund on two wheels. Liam rode around with training wheels as did a few others. I thought he should maybe be doing a little better, so we went to his regular doc. She really thought nothing of this, but sent us to a ped. neurologist just to be sure. Well, last summer we went to this incompetent neurologist who said Liam has motor apraxia and sent us on our way with an Rx for OT. We went through a year of OT and also hired Liam's PE teacher to come work out with him after school two days per week. Liam got physically stronger and stronger with each day for the entire year. Last summer, he could not get on the climbing wall, a few months later - he bouldered the thing. He jumps, runs - although a little funny, he does not toe walk, he was never a floppy baby and hit all milestones at the right times. We never had cause to worry. Then - at the end of this past school year in May, the school picked Liam up for speech - Liam has a slight stutter (his Dad had a huge problem with this when he was a kid and it's totally inherited). SInce he got picked up for speech, he was evaluated by the school's PT and she suggested that Liam did not have motor apraxia at all and that we may want to get another opinion. Liam is very bright and super funny. So, we took Liam to Children's here is DC where blood tests were done revealing a CK of 14,000. We were immediately hooked up with the renowned Dr. Robert Leshner at Children's in DC. The DNA tests were done and we are somewhere lingering between DMD and BMD. I know that BMD is more mild, but were are somewhere in mild Duchenne or more severe Becker. Either way it totally sucks as Liam is our only child and we totally adore him - as you adore Austin. Over this summer, we started Liam on Prednisone and he became so incredibly starving all the time and he also became hyper. After one month, we switched to Deflazacort and the hyper activity is gone and Liam is back to his normal temperament. We switched because of the weight gain associated with Prednisone and if Liam gets heavy - it will hurt his muscles, but it was very refreshing to see the hyper-ness go away as an added bonus. But, as with a lot of MD children, once on the steroids, strength come in amazing ways, but with Liam, he was strong prior to the start of Prednisone - no toe walking, no trouble with stair or getting up from the floor. Although he uses gower most of the time to get up and is comfortable going up stairs one step at a time, he doesn't have trouble in doing it at all. He runs, swims, rides horses, makes obstacle courses in the back yard. This is what I hold on to dearly - that his case may be a bit more benign. Dr. Leshner, in our opinion is the very best. He is co-director along with Dr. Erik Hoffman of the Wellstone Center here in DC. Dr. Hoffman is the key leader in MD research and was one of the med who actually figured out exactly what MD was - in 1986. There is so much coming down the line with stem cell research and exon skipping - right here in DC. We feel we are in the best possible place in the world for our son, but luckily all these doctors work together world wide in their flight for a cure. At this point, the cure for me is to allow my son to reach age 40 without a wheelchair. Dr. Leshner sugar coats nothing and is the most straight shooter. He is a complete rolodex of information. Yes, the worst is learning how to hurry up and wait because this crummy disease affects everyone differently. But during our last appointment, Dr. Leshner firmly said that Liam would be one of those who he believed will benefit from these new trials coming down the line. If he really felt this not to be the case, he would have said so. We really thought of going to see the famous Dr. Brenda Wong in Cincinnati, but there is no need as we are in the best possible hands here in DC. The most difficult thing for me to learn is to stop looking at the end - stop picturing my son in a wheelchair with breathing tubes. Right now, that will not happen to my son. Every day is the prime of his life - as the same goes for Austin. Our boys will benefit from new trials coming down the line. Just look at all the progress that's happened in just the past five years. WOrst case DMD boys can live into the 30s. Imagine from years into the future - the face of MD will be different - maybe no cure, but seriously delayed progression will be here helping our kids live well into middle age and beyond. Do not change your life plan for your son - full steam ahead.
Thanks so much for your story and I love being in contact with you. Let's keep it up.
Hi Irishgirl. It's Ana again. I'm here to tell my story, and hopefully to help you.
Austin grew up behind in almost everything. Walking, talking, hand/eye coordination, everything.... He was in a special preschool, not alot of help.... They told me that he had poor upper body strength, but never questioned why. He did start gaining muscle strength and when we moved to Texas in 2004 he started improving in school like I'd never seen before. Austin was diagnosed with ADHD in 2006 because of behavior problems at school. We put him on Focalin XR to help with that. Which made a huge difference in school, then the progress was HUGE!!
Austin used to spend most of his summer in Kansas with his G-ma and Dad. When he came home at the end of the summer 2006, I bought him a new bike for his b-day in August; he couldnt ride it. He all of a sudden could no longer walk up our stairs on his own, and was falling down. So, I started watching him alot closer, and started seeing the way he was running, he had never ran like this before that I'd seen, and he didnt do it while walking.
This really concerned me, so, the next time we went to his ADHD Dr. I told her what I had been seeing. She kind of played a game with Austin, having him get up and down off of the floor, walking to pick things up..etc.... Afterward, she emediatly suspected DMD. I was shocked, but I am the type of person that shows something totally different on the outside if I feel threatened, embarrassed or scared. So, I said ok, and I went home to do research on my pc.
We made appts with a Neurologist at the same childrens hospital, had the blood work done, explained all the symptoms (by this time, I had him diagnosed myself). Of course, it came back that Austin has DMD.
The day of his diagnosis was I think the hardest day of my life. I have told Austin about his MD, and the basics of what it means. I waited to tell him until he asked questions, I didnt want to tell him all up front and scare him. He still does not know all the details, but enough to understand what is happening, and he probably knows more than I think he does.
Austin now goes to 5 specialists: Cardiologist, Pulmonary, Neurologist, Orthopedist, and his ADHD Dr. We have learned that this is our way of life, and it doesnt seem nearly as hard anymore, you really just adjust to the things that come along one day at a time, and some days it seems insane, and so tiresome, and others, it's really just another day. And, of course, you have your good days.
Austin did wear braces at nite for a while, that his Orthopedist had him put in. Then we went to the Neurologist, and he said it was pointless. So, after talking w/Austin, Dr's and other mother's, I decided it was really Austin's decision wether he wears the braces or not.
From what his Neurologist told me, some Dr's and parents will put their children into "straight leg braces". I could not imagine doing this, they would really fall nonstop.
Austin is on Prednisone, and will be getting a motorized wheelchair w/in the next couple of weeks. We are very excited. He can still walk and get around, but he gets extremely tired when we go anywhere, and long distances at school.
This is a long message, and I'm sure there is tons more I could tell you. Just let me know if you have any questions or need to talk. I'd love to hear your story.
My husband and I both read your post and had a few questions of our own. We noticed that you said Liam had a BMD/DMD diagnosis. Do you mean that he is kinda stuck in the middle of Becker's and Duchenne's? My sister has a son that has Becker's and he's borderline Duchenne. I personally think he has Duchenne's but anyhow, is Liam on steroids right now? I ask because when we started both of our boys, our neuromuscular specialist told us that the boys would appear to be getting stronger but they really weren't, it was just the introduction of the steriod.
As for when we went for a diagnosis, my oldest Avery was five and was having difficulty climbing stairs and getting into the car without help. That's what prodded me to take him to find out what could be wrong and it was Duchennes. At that time younger son Matthew was 2. Both boys sat up at the age of 7 months and walked at 16 months as well. At the age of 2 there weren't really any indications that anything was wrong with Matthew but because of his brother's diagnosis he was tested as well and ended up with the same diagnosis.
Right now our boys are on a weekend dose of Prednisone and take calcium supplements to help with the onset of osteoporosis and they take Prilosec to help with the onset of gastric ulcers. Other than that, that's all that they take. I have heard about Deflazacort and we haven't gone that route simply because it's way too expensive for us. That and the fact that now that Avery is in a wheelchair we want to take him off of Prednisone because we don't really see what the point is anymore. We put them on Prednisone to help them keep the strength to walk and now that Avery isn't we just don't think he needs it anymore. I know that one of my friends Tanya, she doesn't have her boys on any steroids due to the extreme behavior problems it caused her sons.
The thing with this whole disease is that alot of these decisions are really up to you and that's frustrating. You'll find that everybody has a different way. Some parents prefer quality of life over anything that is going help their sons but cause them discomfort. I know it was recommended that my son wear night braces but he just can't sleep and I'd rather him be comfortable but I did have them wear braces in the day time. I know I must be typing a novel on your page..lol..sorry about that. I don't know if I helped but please feel free to ask me whatever you want...that's why we are all here! Oh, and thanks so much for you compliments!!
We're having a nice summer so far; thanks for asking! How about your family? We've been spending lots of time at the pool and just hanging out with friends. Tyler and I had a chance to hang out, just the two of us, this week while his sister, Madison, was at gymnastics camp. Both of them did soccer camp the first week of summer. That was bittersweet...Tyler REALLY wanted to play soccer this year, so when I saw they were offering a 4 day soccer camp (9am-12) I called and asked about it. I explained Tyler's situation to them and was assurred that this summer program was focused on fun rather that competition and he'd be fine. So...on the first day they broke the kids up by age into groups. Tyler is 9 1/2, but he is about the same size as his sister who is about to turn 6. He was SO MUCH smaller than everyone in his group and the first thing they did was take a lap around the track. I marched on over and gently asked that they move him into the youngest group, with his sister. It was a much better fit both size and skill wise. As his mom, it was hard to watch him struggle to run and keep up with the other kids, but I tried to focus on the fact that he was having fun and was smiling and that is what matters. We are planning on going to NY to see my family sometime in the beginning of August, squeezing a camping trip and a visit to Kings Dominion (an amusement park) by the end of summer too. Any exciting plans for your crew?