Our son, John, was diagnosed with Duchenne Muscular Dystrophy in October 2014, soon after his fourth birthday.
John’s diagnosis process
Almost from the day he was born, we knew that there was something ‘wrong’. It was just a sense we had. As he grew, he was always behind on his development. However, we were repeatedly told that everything was fine. We therefore just put his slow progress to being worried parents. Nevertheless, the concerns persisted. In the end, we managed to get a referral to a wonderful paediatrician. She picked up Duchenne almost immediately. From that point onwards, we have had absolutely brilliant support. We have a great team of specialists here in Kingston, including an amazing school, and John is under the care of Great Ormond Street.
First few months
A diagnosis of Duchenne is absolutely devastating, and completely overwhelming. The first three or four months were the absolute worst of our lives. However, and most parents will say the same, it does get better. There will always be ‘that sadness’, but at some point it ceases to be the only thing you think about and becomes something that instead hovers in the background. John is a lovely, happy, funny little boy. For the moment, we actually have a rather normal home life. Yes, there are the ‘space boots’, the wheelchair and the steroids, but each element just becomes another part of your existence and you adapt to it. He loves his little brother, William, who is unaffected, and together they create havoc whenever they can!
Getting support
Action Duchenne were just brilliant from the first moment we got in touch with them. It was not just the wonderful emotional support of being able to talk to people who really understand what you are facing, it is the practical support we received. They really do have a fantastic wealth of experience. For example, their information on education and learning was invaluable for us as parents, as well as for John’s school. Knowing the problems boys with Duchenne can often face meant that we could anticipate John’s educational needs. As a result, he is thriving at school. While we all desperately want to find a cure for Duchenne, it is vital for families to have support and be able to get accurate information on managing the condition. This is where Action Duchenne stands out. The Action Duchenne conference is a highlight of the year. As well as being a chance to hear about the latest research developments, it is also a great opportunity to pick up practical tips and advice as well as meet up with other parents.
Fundraising
As for fundraising, we have been trying to come up with some grand ideas, but really the key is not to overthink it too much! Better to get started – even with small, fun things. However, we do give a monthly amount to Action Duchenne, and have encouraged other friends and families to do the same. Regular income is crucial for charities. If you can set something up, and encourage others to do so, this can make a huge difference.
A message to Newly Diagnosed Families
In terms of advice to new diagnosed parents, I will forever be grateful to a friend who has a severely disabled son. As soon as I got the diagnosis, I met up with him. He said whatever you do, never ask the question ‘why us?’. He said he had lost several years to depression because he went down that road. It is not your fault. It happens. Do feel sad, angry, frustrated about the situation. But try to avoid thinking about why it happened to you. Also, it is really important to try to have as normal a home life as possible. Your son is still a child, and will want to be able to enjoy his childhood as much as he can. It may seem as though that can never happen. It will – once you get past the initial shock. You will laugh again, I promise. – James Ker-Lindsay, September 2017
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