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Permalink Reply by Jacqueline M McConnell on August 12, 2013 at 3:33pm

Kate,

The prognosis is really unknowable.  As I posted previously, unless they biopy every muscle they can't really tell how much dystrophin she is producing.  Some of the girls outpace it for a while. Some women don't even know they are manifesting until they have a son with DMD and suddenly their own fatigue and weakness makes sense.  In the general sense, the same treatment regimen applies for the girls as boys.  Not every doctor agrees on when to start steroids or whether or not heart medication is warranted to delay cardiomyopathy.  How old is Libby?

 

Permalink Reply by Pamela Schmidt on August 12, 2013 at 4:00pm

I am in the US.  It was very difficult to finally get a diagnosis but we finally did.  I carry the deletion that Paige has and her twin does as well.  I was a professional skier and have been athletic all my life without difficulty.  My other daughter, Paige's twin is in a gifted school for dance and has no weakness or muscle issues.  The deletion is the same as your daughters 51-55.  Paige had a bou at around age 7 where she was limping.  They put her through a battery of tests, all of which were inconclusive and she eventually started walking normally again.  The doctors felt it was a virus.  It may have been unrelated but I doubt it.  The she started to complain of leg pain.  One night she was playing volleyball, she used to be on a travel team.  Highly competitive.  She came home that night and her urine was the color of coke.  She had Rhambdomyosis and was hospitalized for 5 days.  Her CPK was 68,000!  They did every test in the book and now here we are.  Unfortunately since diagnosis we have not had anyone guide us as far as how to help her.  She complains of leg pain when she exercises strenuously and we have learned to deal with it and know to let her rest, drink water, until pain goes away.  I wish there was more information about girls with the deletion.  Emory did further testing informing us that the deletion is skewed at around 60/40 for both girls.  It is my understanding that one twin has 60 positive dystrpophin production and the other only the 40% producing dystrophin.  That is what we were told was probably the case.  The only symptom I have ever had is a couple of incidents where my heart would start racing but it settled itself down on its own.  Only now does that make sense to me.  I hope we find the answers we are seeking for our girls.  It is extremely frustrating that there is not more research or reading on the subject.