Tuesday, January 28, 2014

Becker`s Muscular Dystrophy from a mother's Perspective

When it comes to sharing my story it has allowed me to connect with others who have also been affected by Muscular Dystrophy. This includes those living with BMD as well as their families and friends and even mothers of children who have been diagnosed with Becker's Muscular Dystrophy. So as the My Becker's Story blog enters its fifth year it is my plan to raise more awareness by inviting others to share their personal stories. Recently I asked a good friend of mine Layanne who happens to be a mother of three boys living with Becker's Muscular Dystrophy to share a little bit about her story. We hope that if some one you know or maybe even if your child has recently been diagnosed that her experiences as a mother will help you through what for many can be a difficult time. 
      
 Becker`s Muscular Dystrophy Perspectives: Layanne`s story 
 
 I met my husband in 1998 and we married in 2003. That year we fell pregnant with our first child, our 1st son was born in September the following year. He was a textbook child and hit every milestone. We loved being parents. When he was 2 we decided to try for another child, our second son was born in 2007. He was very different to our eldest and was very delayed in his development, however we weren't overly concerned and was reassured by folk that he would sit/crawl/walk/talk when he was ready. When he still wasn't walking at 18 month a health worker referred him to see a children doctor. At this appointment we went over his development and what delays he had, it was decided that blood would be taken and then we would go from there. This included a ck test. Even then I thought it was all unnecessary, I truly didn't think anything was 'wrong' with him. Only 2 days later the doctor called and said she wanted to see us, an appointment was made for next day. She said that his creatine kinase levels were abnormally high and that normally indicated a muscle disease called muscular dystrophy. We were shocked and scared, I had never heard of it.
 
She referred us to a neuromuscular clinic in our nearest town. We left that appointment hugged our little boy in compete disbelief thinking 'they've got it wrong'. At the neuromuscular clinic they took more history from us. Through talking to family members we found out that I have a second cousin on my dads side with duchenne muscular dystrophy. The genetic counsellor was surprised to hear this but said that it couldn't be connected to out little boy. More blood was taken. Through DNA testing they discovered that there was no deletions or duplications in the dystrophin gene, although I wasn't sure what that meant we were led to believe that muscular dystrophy was unlikely. We were confused as were the doctors, the blood test also revealed that his ck was still high so docs decided to proceed with a muscle biopsy. That happened in 2009. We got on with our lives as much as we could, our son had started making progress and was coming out with a few words and started walking. We waiting a long long time for any results. I fell pregnant with our 3rd child. When I was only a few weeks along we got a call to come in as they had some results. In April 2010 we found out he had Becker muscular dystrophy. It turned out the muscle biopsy showed abnormal dystrophin patterns in the muscle, DNA was send to a specialist laboratory in London and they found a rare point mutation which led to the diagnosis.
 
We were frantically trying to absorb all this information when they said that the baby I was carrying could also be affected as it was a genetic condition. I don't think I cried at all. Blood was taken from me and I was a carrier. They tested my unborn baby and it was found out to be a little boy who also had BMD. I obviously continued with the pregnancy and had our lovely boy in November 2010. Although I agreed to the testing, ending a pregnancy was never an option for us. They offered testing for my eldest son but we refused as he couldn't possibly have it, could he?? He was nothing like my 2nd son in development etc so we declined. The next few months up to a year passed in a blur and I can't remember much. Lots of tears, anger, shock, worry. Even now it's hard to talk about. I became a crazy woman obsessed with researching everything about BMD, I felt like I needed to know and understand it, maybe I thought it would help? I'm not sure but I stayed up all night sometimes reading what I could and trying to understand it. When my youngest was 8 month and 1 year and 3 month after we heard the words 'Becker muscular dystrophy' our eldest came home from school saying he was always coming last in races, he was tested and we found out he also has BMD. WHAT! It couldn't be surely! I got very depressed and down at this time. Fast forward 3 years down the line and life is good, all the boys are doing well and we don't dwell on anything or feel sorry for ourselves.
 
What advice would you have for mothers whose children have recently been diagnosed with BMD?
 
My advice to mums is just take it slow, you don't need to understand it all straight away, you will make yourself ill asking all these questions to which there is no answers. You don't need to understand it, first you need to accept it and take each day as it comes. Expect to cry, this is ok, you are in a word mourning for the child he should of been.

 What impact has it had on your life being able to connect with other mothers of children with BMD?

Having contact with others mums has been wonderful, just to have people to talk to that understand all the worries or fears you have.
 
What if anything have you learned by getting to know people living with BMD?

I have also came in contact with some wonderful men who are living with BMD. I can't tell you how lovely it is to see men living with BMD and living full and happy lives. It's been a huge source of reassurance that everything will be 'ok' and the boys can grow up , have jobs, get married/ have children etc.

Being a supporter of the Muscular Dystrophy Campaign, why do you think it is important to support Muscular Dystrophy Charities?

The muscular dystrophy campaign have been wonderful and a huge source of information and support. After I had researched all I could my next step was to throw myself into fundraising, between my husband and I we have done skydives, climbed 3 mountains in 24 hours, 2 half marathons. We also agreed to be featured in a press campaign this summer sharing our story. Including this we have raises in excess of £30,000 for the muscular dystrophy campaign. They are making huge steps forward with research which is why I believe it's important to support them.
 
 
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2 comments:

  1. A huge thank you Layanne for all you and your family have done to support the Muscular Dystrophy Campaign, from helping us raise awareness, to fundraising, and supporting others families affected by Becker muscular dystrophy.
    We think it is so vital that groups like the Muscular Dystrophy Campaign and My Beckers Story work together to share advice, information and support for all those living with Becker muscular dystrophy.

    For anyone wishing to find further information about the condition or access support, please do not hesitate to visit our website (www.muscular-dystrophy.org/becker), or contact our information and support team on 0800 652 6352 (freephone) info@muscular-dystrophy.org

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  2. Thank you so much for sharing your story!!! Our 5 year old son was diagnosed last year with BMD. It's good to tell families its ok to mourn the dreams they had for their children for a time. Then you need to get on with the New Normal and adapt where needed. We have also greatly appreciated all of the men who are on the Facebook pages and have been encouraging us and showing us that our sons can still live a happy full life! It's all perspective and when you get slapped in the face with a different one it takes a little while to adjust. Hopefully after that adjustment period you will see your child laughing and playing and it will encourage you to stay positive! Thank you again for sharing!

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