by Anna Johansson
About the author:
Anna Johansson and her family live in Sweden. They found out in the summer of 2021 that her teenaged daughter, Elvira, is a manifesting carrier of Duchenne.
Our Girl with DMD
I’m a married 49 year old mother of three wonderful girls (26, 22 and 15 years old). We live with their father Dennis, in the northern part of Sweden. Our 15 year old daughter Elvira was diagnosed as a manifesting carrier of Duchenne in July this year. She has a deletion of the exons 46-53.
A Call That Changed Our Lives
Elvira was born 8 weeks early. We have seen her struggling with school and a lot of difficulty with physical activities since she was a little girl but we thought it was because she was a premature baby.
We have tried to get special help for her at school but they haven’t been taking her problems seriously. We didn’t know what to do and tried to help her by taking her to a sensorimotor center four years ago. It was actually helpful for her impaired motor skills.
Because of her high liver values, Elvira was referred to Stockholm during the spring this year to check her liver. The pediatrician in Stockholm also checked her CK and Myoglobin and informed us that the problem was her muscles, not her liver. She contacted the pediatrician that did the referral and told her to investigate if Elvira was suffering from a neuromuscular disease. So, Elvira had a genetic blood test done.
At the end of the summer we had a call from the pediatrician that changed our lives. She informed us that Elvira tested positive for a genetic muscle disease, a disease she must have gotten from me. We scheduled a meeting for the family at the hospital the following week to get more information about the genetic test result.
Only Affects Boys?
During that meeting at the hospital, the genetic doctor informed us about DMD and how serious the disease is for boys. He only talked about boys.
When we asked him questions about our daughter, he didn’t answer our questions. He spent the rest of the meeting informing us that our 14 year old daughter must plan her pregnancies carefully so she won’t get a baby with DMD. She must also avoid Botox treatments because of her diagnose.
We left the hospital with so many questions and we all felt really confused. We were so scared after the meeting and had so many unanswered questions.
There is almost no information about girls with DMD here in Sweden. We have been reading about girls with Duchenne at the PPMD site and have participated in the support groups on Facebook, trying to get more information and answers to all our questions.
With the knowledge I’ve gotten from all of you, I have been able to inform my family, friends, and the teachers at our daughter’s school. Now they can handle her problems in a better way and that makes her life easier.
Where Did It Come From?
My family and I have been struggling with health issues for the past 13 years. Even though we are used to handling this kind of difficult message, this one was the hardest for me to handle. I felt a lot of guilt and I blamed myself for giving my daughter this disease. I was terrified that I also had given it to my two older daughters.
It has, of course, affected all of us knowing that we have this genetic disease in our family, but now four months later we have landed in the situation and we handle it day by day. At least now we have an answer about what has been going on with Elvira and what’s causing all her problems.
My carrier test came back negative, but it could still be germline mosaicism. Our older daughters are going to have a genetic test done and I’m praying that they aren’t carriers of DMD.
Just Like All DMD Families
We are – just like all DMD families – struggling with a difficult situation, even if we have a girl with milder symptoms of the disease than most of you with boys.
We handle the situation by talking to each other about everything and managing the challenges together. We are trying to see every new day together as a gift and we have learned to be grateful for all the things we actually can do and not sorrowful for things we can’t do anymore.
And none of us are taking anything for granted anymore.
We are so grateful to all of you, for sharing your knowledge and experience with us. Thank you for letting us be a part of the big Duchenne family and share our thoughts with you.
With love to all of you,