Sherri. 50/50 is good news. Alice's was 100/0- this is why they are treating her as if she has duchenne. The down side is, without the diagnosis of manifesting carrier she may not be able to be an client of MDA and go to the clinic The diagnosis also paves the way for Medicaid and special designations (vary by state) that could help fund orthotic braces and cardiology visits which I would urge you to have for both. With a 50/50 you may want to avoid the steroid thing altogether - this is all the doctor can really do treatment-wise, and it doesn't sound like he wants to do any kind of treatment. Steroids have terrible side effects and we always wonder if Alice really needs them. We are going to take her down to Shriners in Portland and see what those docs say. Does your ortho want her to wear night braces to help with the tightening? Is there a hospital nearby that does duchenne research? Our docs didn't know what to do either. That was why we took them to Childrens' in Philadelphia. They'be been running the show ever since. They're the ones that wrote the Rx for the steroids, for example. Our neurologist did make the diagnosis, however.
Hi sherri - my daughter Libby, has just turned 8 years old. She does have some slight muscle weakess but she's not been offered any form of physio as yet. The specialist has said that Libby as the learning ability of a boy with DMD and I have had to fight with the school to get her extra help at school, but now that we have a diagnosis they have stopped treating me like a neurotic mother and started getting their bums in gear!!! It's been such a struggle though.
We took Libby to Florida last year and bought a mountain buggy stoller to push her round. Although she's only 8 years, she is wearing age 11-12year clothes so not sure how long this stroller will last!!
Can I ask, are any of your daughters registered as disabled? Look onward to hearing from you and keeping in touch xxx
Hi sherri - nice to meet you! In the UK very little seems to be known/researched about DMD so iit will be great to pick the brains of our friends from across the pond!!!
There is no MD in mine or my husbands family trees so all this has come as a bit of a shock to me and my family. Libby is my only child. I knew there was something not quite right with Libby but was fobbed off by her school as being a neurotic mother - it was awful. I had so little knowledge about MD that when they started talking about the possibility it could be DMD I had to google it and I was so upset. Were sort of a year down the line and I'm still a bit confused with prognosis and how this will affect Libby going forward.
I know what you mean when you say that with 3 girls, DMD didn't even cross your mind - I always thought it was a boys disease. What symptoms does your oldest girl show and have they got worse? Kate x
Hi Sherri, I was hoping you would send a photo of your girls STAT because we have decided at the last minute to dedicate the last week in February to Girls with DMD, 28th being rare disease day. 1 in 50 million females has DMD. I just got some slides up on our homepage from three women who gave us their photos (2 in Australia) but I can add Kaitlyn's in the article that hyperlinks from the slides. http://www.duchennefoundation.org.au thanks...my email is firstname.lastname@example.org
Hi Sherri! I am hoping you get an email invite, but just incase, The F.A.C.E.S group will be meeting at the Shrinners in Sacramento Across the street from Davis medical center Saturday October 13th from 1-4. Would love to meet you and your family. :0) My email address is email@example.com To RSVP contact Julie Garcia or Christina Adamson.
Thanks for your question. Yes, I do review DNA analysis reports that are submitted for the registry and I would be happy to look at your daughter's. Please consider registering her on DuchenneConnect (www.duchenneconnect.org). DuchenneConnect is an international registry for both Duchenne and Becker patients, both male and female. The purpose of the registry is to connect patients with actively recruiting clinical trials, to educate patients and families about Duchenne and Becker research, and to advance research by providing a large dataset of Duchenne and Becker patients.
If you decide to join the registry, you can complete a Profile for your daughter and upload the report into her account, or you can email (firstname.lastname@example.org) or fax (404-935-0636) the report to me. I am happy to review the report and answer any questions you may have even if you decide not to register her on DuchenneConnect.
Please let me know if you have any other questions or concerns.
Ann Martin, MS, CGC, Certified Genetic Counselor at PPMD and DuchenneConnect Coordinator
Ok, well your privacy settings don't let me leave a message since we are not "friends" yet.
About 30% of the time there is no family history, as it is a new mutation. For example, I am a carrier, but there is no family history, and my mother is not a carrier, therefore the DMD started in me. My point is just that a BMD mutation could have began in the girl's father without any previous family history.
I just asked because, as you are aware of the X-inheritance of DMD, your girls must either have X inactivation or are getting another damaged X from their Dad. Sometimes men with BMD are only mildly affected and diagnosed rather late. The genetic counselor and tests will sort it out, and hopefully quickly.
We had just been discussing the genetics of DMD and the possible outcomes with Simon because he was asking if his children would have DMD too.
Comments stay visible on our "walls", but if you want to say something privately or not for others eyes, then do a "message". Perhaps my privacy settings won't allow you to message me unless your are a friend, so I will be-friend you after I am finished this. It will show that you have something in your "in box" up on the right hand side under your name.
Hi Sherri, the F.A.C.E.S group does meet at Shriners. Not sure of the next meeting, but would love for you to come! I am so sorry for your daughters diagnosis. We are all here to support. We are also on Facebook, if you would life to join a few discussions on there as well. lots of hugs to you and your family.