Being a carrier of Duchenne - Angela Stringer

When my daughter was born I thought we had the ‘perfect’ family with a boy and a girl.  That was a short-lived scenario as six months after my daughter Amy was born we had the devastating news that her brother Jonathan had Duchenne.  Simply ‘out of the blue’ as it is for many Duchenne parents.  We’d never even heard of it before. 

At the time I had genetic counselling, but didn’t have genetic testing, I don’t know why not (must have fallen through the loop) or remember if it was offered at the time.  I do remember that they advised my daughter should be tested when she became 18.  I should have had genetic testing at the time, but there was so much to take on board and we were all just living day to day with the dreadful life sentence we had all been given.  A lot of the information and guidance that we received  just went right over our heads in the early days. 

It was many years later that I had a blood test to confirm what I already knew.  I knew I was a carrier because I’ve always had some symptoms.  In my late teens and early 20s I occasionally got muscle aches and pains, especially in my legs, but just thought I had ‘over done it’ when playing badminton or swimming.  I’ve always tried to keep as fit as possible.  One thing I noticed was that I had larger than average calf muscles and I hated that fact because I couldn’t get into fashion boots.

I believe my mother was a carrier as when I was younger I remember her not wanting to walk too far (no explanation).  I never did ask her to be tested as how would it change the situation and I always knew I had the stronger character to take and carry ‘the blame’ and that she would have found it difficult to cope with that knowledge.   It is very hard to live with the fact that you have passed on Duchenne to your children.

Amy is now in her mid-20s and although we talked about genetic testing and the implications for her, she only got tested a couple of years ago.  Unfortunately, Duchenne has not left our family as she too is a carrier.  She’s been to counselling and was reassured that when she plans to have a family to go back and talk to them again as the options available to her are improvin year on year.  The hope is that she can have children without Duchenne. 

If Amy had been a boy it is very likely that we would have had two boys with Duchenne.  There are many families with more than one boy with Duchenne because the diagnosis is usually made at 3+ years.

Since finding out that I am a carrier I do have regular heart checks and watch my health.  It’s good that I have a GP who knows our family history and always asks how he can help us and what I need from the medical profession to help with my symptoms.  I am also discovering that I present with more Duchenne symptoms as I get older.  From speaking with other carriers, I know that I am not alone with coping with the symptoms and looking after a family.

Despite Duchenne, my family is still ‘perfect’ as although life is not what we had planned, life never is, I wouldn’t change it.  Our son bought us joy and laughter and I think we all appreciate life much more."

Angela is a long standing staff member of Action Duchenne, The DMD Registry Curator, Patient Advocate, Eupati Fellow and general font of knowledge!

 

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