I think that is great that you are going to Cincinnati. I know there is a non profit that helps parents with cost of airfare...I think it's miracleflights.org I think that is the name. You can look on the ppmd site. It usually covers one parent and one child going out of town for medical apts. Also, there is a PPMD parent that remodeled their basement for the very purpose of dmd boys coming to Cincinnati. I can email you her name later....You should probably call your health provider and make sure that they are contracted with Children's there. Otherwise, it can be quite expensive. They do alot of testing and xrays., etc. We have Blue Cross and it's a PPO - that's the key - Preferred provider org vs. HMO - which makes you use their docs but I think there are parents who have fought the HMO and won. It's work though. I also know that Cincinnati is a MDA clinic but the thing is that Wong has over 460 patients and that's alot. Ok - enough for now. Will keep you posted on the Children's thing here. I think there maybe some type of metabolic MD. I mention that b/c of your son's lack of weight gain. I think you could go to MDA site and read about it there. I don't know much about it other than the neuro talked about it with us originally...Char
Hi Melissa - I heard you met with Pat Furlong....That's great. I should have told you she was here. I didn't find out until the last minute. We had dinner with her. Did she pass along any interesting info? Another woman I know that has a son who is 21 yrs organized the dinner...She wants to coordinate a bunch of parents to approach Children's about the poor neurology care. Do you want to join? I know you are just diagnosed and have 5 kids so no problem. I am not sure what this will involve....Hope your little guy is doing well. Char
Sorry it took me a while to get back to you, I am quite busy at work and I am expecting a baby girl in 8 weeks.
No, our 2 doctors do not work together. They each have a lot of experience and I did not ask them to talk to eachother. In fact I am not sure how long we'll be going to Cincinnati. We really like Dr. Mendell from Columbus Children's (both as a clinician and as a researcher) and the exon skipping trials will be here in Columbus. For now, we decided to continue going to Cincinnati but I am not sure what we'll do as time progresses. At this point none of the doctors advised us to do anything special really. We are doing 1 min stretches of his hill cords every night and we give him Vit D3, CoQ10 and 1/2Protandim. Robert weights 26 lbs at 18 months (he is 75th percentile for height and 50th for weight). We started D3 at 8 mths and CoQ10 at 12. You can only start Protandim at 25 lbs. To be honest with you I do not believe any of them is helping significantly, maybe only VitD3 for bones. This disease is so complex and it needs a very good treatment, these vitamins help a little but not much in my opinion and talking to these Drs. The progress is so different from boy to boy even when they take the same vitamins...
The exon skipping trials will start this Fall. Unfortunately the compound used for skipping 51 is a PMO (bare morpholino) which did not work on the heart in mice after IV and worked poorly on diaphragm, only the modified morpholinos (PPMOs) did. They are currently used in preclinical work for skipping exon 50 but not 51. At this point in time it is hard to predict how long it will take or even if they will be approved. We all hope they will, even though the heart cannot be treated... If the results are good, then 4-5 years sounds reasonable. If the results are great then they can be approved even sooner. None of the scientists working in the fields can say much at this point. That's why I think that it is great to start these trials, see the results, learn from them and progress.
Hi Melissa - I thought there was a whole section about stretchers. We do the following stretches - heal cord - on couch - keep leg straight and take toes and use your hand to push toes back toward the knee. We hold those for 30 sec. each and do 3 each leg. Then, the solius muscle - take the leg bend it and point toes back toward the knee. Then hamstrings - on back - take leg at 45 degree angle and raise lower leg to straight position. Each time you should be holding these 30 seconds for three times. On tummy, hip flexors - bend at knee and pull up and hold. Illiotibial band straighten leg (on tummy) pick it up and take it over midsection of the body for the illiotibial band. That band is a tendon that runs from the hip and attached below the knee. We also do hand stretches - keeping elbow to side and turn hand over. Then take hand have him push back so that his fingers are stretched going back wards.
I think PPMD has a DVD that you may be able to call and get. There is also a book called Education Matters that is good as well. I believe these are free for PPMD members.
I think it will take awhile to work through the emotions of the diagnosis. It still upsets me. Just know that there are people who care and reach out. You have time on your side - your son is still very young....which is good - more time for researchers to come up with a cure.
Let me know if I can help out any more,
Melissa - I was wondering how you are doing. I am glad to have an email from you. Here is the web link http://www.parentprojectmd.org/site/DocServer/Posselt-Physical_Therapy_Philadelphia_2007.pdf?docID=2201
You need to get to the very beginning of the PPMD site - http://www.parentproject.org/ in there you will find all sorts of info. about care. Click on the USA icon to get in.
How are you doing with all this new diagnosis?
I feel so much like you, it helps me too you know talking to Mom's like you because we really understand each other and can relate to this awful pain. I think you have come far for just having the diagnosis a few months ago. Honestly, it helped me moving on from Seattle. They brought me so far down with all of their gloom and doom attitudes. It still angers me that this is how they act about this disease. Melissa, you have the right attitute and I know you will fight hard for your little Wyatt as I will for Gavin. Your story touches me and I can tell what a wonderful Mother you are!! Have a great weekend as well and I will talk to you soon:-).
I know I think that they should also do a standard ck tests for both boys and girls. It sure would have helped us in knowing first about our daughter or even me. I didn't even know until after I had Gavin that a ck test could be of help. Absolutely, your daughter can do PGD/IVF, my insurance paid for it in full twice for me to have it done. I am a confirmed carrier and at first they didn't pay and I fought them and won twice. By the time your daughter has kids hopefully it will be even easier to have insurance pay. I'm sorry about your day yesturday, I know it's so hard especially right now trying to absorb everything the diagnosis and the research. I want you to know that I really do feel hopeful for our sons. It's very painful to know especially when your son is so young. We found out at 18 months and there were days I thought to myself, did I really need to know this. Then I look at him and know that it's so much better to know now to do everything possible to help him. It changes your world and takes away that innocence. We found out in November right before Thanksgiving and Christmas. I would go out shopping and all I could do is look at how all these families were happily shopping and looked like they didn't have a care in the world. I so wanted that to be me, but then I looked at Gavin and realize just how lucky I am to have him. I know how hard this is, hang in there and I'm always here to talk to. Call me too, if you just need someone to talk or cry with!! Tonya :-)
I read your introduction blog. My son was diagnosed with a deletion of exon 50 through newborn screening at 3 months old (they are running a newborn screening pilot study in Columbus OH and Atlanta GA). I am not a carrier and I never heard of DMD before so I understand what you are feeling at the moment. Robert is 18 months now. He started walking at 15 months and his development is right on target at the moment. We go to Columbus Children's every 6 mths and Cincinnati Children's one time a year. Our first appointment in Cincinnati was 10 months ago and we had our second appointment March 31. We started giving Robert Vit D3 at 8 months, CoQ10 at 12 months and we just introduced 1/2 Protandim (antioxidant). We are also doing nightly stretches. That is all for now. You cannot give to many things to a baby as you can imagine. We plan to get night AFOs when he turns 2. Steroids, the only approved treatment for DMD, come with serious side effects (lower their bone density, stunt their growth, weight gain, behavioral problems in some cases etc.). There are several discussions about the side effects on this site. For this reason the doctors try to hold off putting your son on steroids until they are a little older and/or they really need it.
Your son, as well as mine, might be a candidate for exon skipping if that clinical trial goes well. They do not accept children younger than 5. Phase I (Safety) of that clinical trial is in Europe now. FDA did not approve the start in US as of now. AVI biopharma (the company working on exon skipping) hopes to start trials in US before the end of the year if the results from Europe are positive. Other than that, there are other things in the pipeline, but no clinical trial at this point. We all hope that things will progress in time for our sons. Please let me know if you need any additional info.
I just read about the umbillical cord blood. I am also a carrier as well as my 4 year old daughter. We just did PGD/IVF which tests each embryo to test whether they are carrier girls or not or boys with DMD or not. We are 14 weeks pregnant with healthy twins. If there is a chance that something will come of umbillical cord blood we wanted to get it. Yes, your daughters can save their corblood of their kids. They are in the beginning stages of the cordblood with MD, however things are moving fast so one never knows. My understanding is you need a healthy non-carrier girl or non-MD boys umbillical cordblood, unless of course they can reverse the mutation, but that would be harder and may be possible in the future. Your daughters can definately be tested and then do PGD/IVF to be on the safe side. Unfortunately, we do have a family history. My cousin Mark passed away in 1989 of Duchenne. He was a lot older than my sister and I and we always knew Mark in a wheelchair. He was amazing and very positive and a brilliant artist, he drew unbelievable pictures until his early 20's, he lived to be 26. Anyway, My GrandMother was a carrier, her 2 daughters, me and my sister and Gavin has DMD and my daughter a carrier. My sister only had one child a girl who is the only one who is not a carrier since my GrandMother. Unfortunatley, when I talked to the genetic counselors here, they would not run DNA testing on my unless they knew where in the geneome to look. We didn't have tissue or blood samples because things were done differently and they could not read the biopsy he had done in Seattle because it was to old. Anyway, they couldn't tell me for sure. My husband and I wanted to have children and there were no other cases besides my cousin. Anyway, I was nervous when I was pregnant, but really didn't think I was a carrier. I talked with my pedi about it, she said he's fine he is hitting all of his milestones. I started researching, not sure why I couldn't get it out of my head. So I read that doing a simple ck test could ease my mind that he was fine. much knew at that point, but went on with Seattle to get diagnosed. I've seen what this disease does and we vowed to fight it in anyway.
Good, let me how it goes. Wyatt is also a candidate for exon skipping 51. Dr. Wong thought it may be available in about 4 years. Wyatt will only be 5 so that would be awesome. You are in a good position with your son being so young and there will be more than just exon skipping.
I feel so much like you!! That's great that you have already emailed Pat, she is the person to talk to. I believe the same thing that you found out about Wyatt this soon to help him now. We found out about Gavin at a year and a half, we feel the same way. We went to Cincinnati when Gavin was 2. We immediately started supplements, CoQ10, Vitamin D3, we got the night AFO's for him. I think it's so much better to start as early as possible. Gavin takes any type of supplement/medication I give him because we started so early. He is used to wearing the AFO's, I think it's a lot harder when you find out at 4 or 5 to get the boys used to all of it and then it doesn't seem "normal" to them. Are you going to see Dr. Wong? They are really good with the boys and really check everything to make sure they are doing ok. Gavin at this point is presenting mildly, he still runs, climbs and he is not on steroids yet. We are however going to start them in a few months. Gavin has a deletion of exons 48-50 and is a candidate for exon skipping 51, so we want to preserve as much muscle as possible. What mutation does Wyatt have? I really feel that since we found out so young and started the supplements and the stretching every night after bath he is doing so good. I'm so glad you found out now!! if I can help you in any way let me know or if you have any questions I will try to help. You sound like you are on it and your son is lucky to have you fighting for him.
There is a woman on PPMD - a member that is a neurology nurse 0 coordinator. Here is her contact info -
Wendy Bommer, RN
Comprehensive Neuromuscular Center
Cincinnati Children's Hospital Medical Center
3333 Burnet Avenue MLC 2021
Cincinnati, Ohio 45229
Email her and tell her that you got her info from me...and that you really, really want to come and see Dr. Wong.
Good luck and keep in touch and let me know if you have any other questions.
One more thing - go onto PPMD site and look for stretches and you could do those on your son while he is sleeping....or put a tape on and you do it while he is watching. It helps their muscles from contracting. Char
p.s. you also should get him night boots....ask Children's Seattle about that.
I'm very sorry about the diagnosis. I know it hasn't been very long and I know how painful it all is. It's very hard to swallow and I definately had some very dark days. It's been about a year and half since we found out about our son Gavin. He just turned 3 in March. How old is your son? I think it's really important to have support from other Mother's whom also have boys with DMD. I have great friends and family and they definately sympothize, but don't totally "get it". We initially were diagnosed at Children's Hospital in Seattle. Although they seem very nice they were not NEARLY as pro-active as I wanted. We now go see Dr. Wong in Cincinnati, we just back from our second trip a few weeks ago. Anyway, I'm interested in hearing your story and how you are doing. Hang in there it does get easier to accept, but it takes time.
No questions are dumb - never, ever...When we went to Children's here, I was pretty much told that this is what Will has, there is no hope and enjoy him while you can. Several parents have experienced the same. Others, will it there...Anyway, Will is our one and only and I have relatives in KY. I had a bad experience with Dr. Brian Velchek @ Swedish. I don't want to get into it but basically, we were going to him for almost three years, before he figured out that it was DMD. And, he missed a very important test that he should have ordered to identify that it was DMD. We waited 6+ MONTHS before we were given the news. And, his nurse called me at work and told me - about the CPK and that it was fatal long term. The whole experience was horrible. I talked to Pat Furlong and she had me fax the results to Dr. Wong and she spotted it right away....and one thing lead to another and that's why we go.
I can tell you that there are resources for airlines that will fly a parent and child to medical care out of town for free - and I know of a parent/family that has DMD diagnosis and remodeled their basement just so that parents in need can go there. There is a bus from Children's that do pick ups if you schedule it. It is do-able. You could arrange to go once a year - that's usually the case unless there is something else going on. The Cincinnati Children's Hospital where Dr.Wong is - takes a interdisciplinary approach - all docs work in conjuction - pulmonary, cardio, neurology, nutrition, physical therapy, endocrinology. This gives your son the best chance.
Here is something you should be aware of - he is young and that means more time - more time for things to come down the line - research wise. Do you know his mutation in the gene? Will's a duplication - 54-57. That's important b/c as researchers set up clinical trials, you need to know what genetic error is. There are also national registries that researchers will go to for patients. Check out the Duchenne Connect Website which is part of PPMD. Also, ask Children's about the one that genetics can get you on.
MDA has a good site too. I haven't gotten as involved in MDA b/c they don't fund research that much. They protray that they do but there is alot of overhead that they have. I.E. President makes almost 1 million. That's not right....it should go to the boys. My opinion. Char
Melissa - go into this website and read about DMD. This website will be one of your greatest assets. Talk to other parents. Read - I liked the book Half Moon Rising...I think that was the name of it. Penny Wolferson - I think is the author....I can't find the book at the moment. Another onee is called Intensive Care ny Mary-Lou Weisman. These will give you a view of what we face as mom's of DMD boys. Char
Melissa - if you want to run something by on-line, parents will respond. Takes time but they will. Will rolled over, pulled himself up, starting walking all late. He is delayed as well on somethings like responsive speech...There is a woman who has her PHD in cognitive accessments of DMD. Her name is Dr. Victoria Hinton - in N.Y. So, you may want to read about that.....not wanting to over whelmed you with too much right now. Char