It is hard to describe the impact of Sebastian’s diagnosis, not just for my husband James and I but for our friends and family and all who love us. However, we are gradually picking up the pieces of our world and putting it together again. It will always look different than it did, but we are beginning to find light through the darkness.
In October 2016, our then 2.5 year old son Sebastian had a blood test which revealed a very high CK level. After months of concerns about his gross motor skill development and a previous paediatrician reassuring us that he was simply a “late developer”, it was from that blood test that we were told he almost certainly had Duchenne Muscular Dystrophy. I will always remember reading the list of early signs of the disease, feeling like I was going to be sick as I realised Sebastian had every single one. I had thought knew what heartbreak felt like, but in the one moment of that phone call, our hearts and our whole world well and truly shattered.
What followed was months of uncertainty as they attempted to find Sebastian’s mutation, which turns out to be extremely rare even within a rare disease. We didn’t have a definitive diagnosis for another 3 months, allowing us to hope for a miracle while being told it was impossible. The confirmation of his diagnosis was expected and yet somehow still devastating.
As well as this, I was 34 weeks pregnant with another baby boy at the time of Sebastian’s diagnosis. It took until he was 6 weeks old to establish whether or not I was a genetic carrier of DMD and whether or second son would also have this terrible disease. We are incredibly lucky that he is well and that I am not a carrier.
It is hard to describe the impact of Sebastian’s diagnosis, not just for my husband James and I but for our friends and family and all who love us. Our lives will forever be divided into before and after DMD. For me personally, my shattered heart will never truly mend.
However, we are gradually picking up the pieces of our world and putting it together again. It will always look different than it did, but we are beginning to find light through the darkness. In amongst the shock and grief of the last year, I have made contact with Action Duchenne. I did this soon after Sebastian’s initial blood test. From the first phone call, I felt completely understood and supported. Speaking to other DMD parents Sam and Lynette who work for Action Duchenne has truly been a lifeline for me, and they have never wavered in their support and patience through my first years journey, despite my various wobbles. They are some of the most amazing people I have ever met, choosing to respond to a devastating diagnosis with positivity, strength and a fight. As a family, we have asked our friends and family to fundraise and support Action Duchenne because we believe so strongly in them. They have already helped many of our friends to fundraise in various ways which has given them a way to do something when they have felt helpless. Fundraising can seem quite daunting, but the team at AD make it very easy to do.
When I first spoke to Lynette, she mentioned the Action Duchenne conference and I couldn’t even imagine being able to attend. But with their support and encouragement, both my James and I are going to our first conference in November, a little over a year after that first blood test. I am actually really looking forward to gaining all the knowledge I can possible get about this disease, so that I can fight for my son in the way that he deserves. I also want to meet other DMD parents, knowing that together we can help each other to be strong. I hope that, as well as fundraising, I can find a way to be involved in the incredible work that Action Duchenne are doing to beat this disease. Even if it is only to help another parent in their darkest moments as they have done for me.
Lizzie Deeble is Mum to two glorious boys and lives in the Midlands
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