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! 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 leeandraarchdeacon@yahoo.com  To RSVP contact Julie Garcia or Christina Adamson.

Hi Sherri,

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 (ann@parentprojectmd.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.

Best,

Ann

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.

Keep on keeping on,

Andrea

Hi Sherri,

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. 

Andrea