Parent Story: Scott and Vicki share their story of their son’s diagnosis of Duchenne and their family’s journey.
“I was just sitting in the room and the doctor’s mouth was moving but I couldn’t hear anything that was coming out of it”
Parents Scott and Vicki have two children, Josh and Layla. When Josh was just 3 years old, his parents were given the devastating news that he has Duchenne muscular dystrophy. They found themselves unable to take in the realities of the progressive, muscle wasting diagnosis as the doctor spoke to them.
And it didn’t stop there. A series of appointments and tests later, Vicki found that she is a carrier of the Duchenne gene mutation. As their daughter Layla began to show signs of Autism, testing showed both a chromosome deletion and that she too carries the Duchenne mutation.
“The thing I struggle with most is the guilt”
Every time Josh hits a new milestone in his condition, Vicki blames herself, feeling the huge responsibility of having passed on the gene mutation. It’s something she struggles with every day. She knows that with their daughter also being a carrier, that Duchenne doesn’t stop with her and Josh but affects families through many generations. Vicky feels that is it’s a side of Duchenne that isn’t talked about or understood.
For Scott, it is the life-limiting part of the prognosis that remains the hardest part to accept.
“Don’t wait around, do it now”
Scott and Vicki know from when Josh was diagnosed that his prognosis meant he would lose the ability to walk around the age of 8 – 12 years old. As a family, they worked hard to prepare in every way they could. Despite moving to a house that could accommodate an extension for a wet room with Josh having his own entrance to make sure he can be independent in the future, steps were put in rather than a ramp. Having been told that it will be revisited at a later stage, Scott and Vicky know from experience that with Duchenne, time is never on your side.
Having done everything they could to prepare themselves, when Josh stopped walking it felt both sudden and devastating. Watching Josh come to terms with it along with the practical reality of suddenly learning to care for someone who can’t walk was harder than anyone could have prepared them for.
Despite the huge challenges they face every day, the family have learned how find joy in amongst heartbreak. As he came off his feet, Josh’s powerchair provided him with a new lease of life. He feels that his “legs are back” and his humour and sense of fun are a daily demonstration of resilience for all of them. Witnessing his newfound independence has also shown his parents that rather than being a restriction, his powerchair has opened doors to the many things he is still able to do
“Don’t think that because they’re in a wheelchair they aren’t going to be able to do anything. The wheelchair gives them more independence and more of a life”
Vital Support
Despite the complexity of the challenges that Duchenne presents for their family, Scott and Vicki put their energy into focusing on finding the joy in every day with their children.
“If you need inspiration, you don’t look any further than your boys. I don’t take anything for granted and there’s always light at the end of the tunnel”
Since Josh’s diagnosis, both Scott and Vicki have found it helpful to connect with other parents who can share their experience and their emotion, creating an invaluable support network. Knowing that others are going through the same thing helps them to feel less alone. They became involved with Action Duchenne, receiving regular support from our Support Team and attending their first conference. Scott and Vicki both feel they want to give back to the charity because of the impact their support has made throughout their journey so far.
“Having Action Duchenne in our corner makes us feel that we are not fighting this fight alone, we’ve got someone to turn to if we need to talk to someone. It’s makes us feel part of one big happy family knowing we are all in this together.”
Find out more about how we can support you and your family here.
