My name is Amy Cavalier. My husband Josh and I live in Cambridge, with our two sons, Kaleb and Liam, and both boys have Duchenne muscular dystrophy.
We got the diagnosis of Duchenne for both boys when a teacher at school (who knew another student with Duchenne) noticed that Kaleb (7 at the time) was slower on the stairs than the other kids. She suggested we might want to take Kaleb to the doctor. We did – and were told that everything was fine. But we couldn’t stop wondering and worrying, so we asked to see a pediatrician – who had concerns right away about Kaleb’s calf muscles (these muscles are often larger in boys with Duchenne). All of us were sent for bloodwork – and that’s when we learned that it wasn’t only Kaleb who had Duchenne muscular dystrophy but his younger brother Liam had it too, and I am a carrier. There is no family history of the disease.
So what do you do next? Well – we were obviously shocked – and then Josh and I wanted to find out everything we could. We dove into the research world, trying to learn about this terrible disease and the future for the boys. I spend lots of time talking to other Duchenne families and doing research for our family so we all know about any medical updates as well as what is working for other families when it comes to nutrition, exercise and physiotherapy. People ask me if it’s sad to be constantly reading about a fatal disease that both of my sons have, but I tell them it actually gives me hope. I am encouraged because I know researchers are busy with many clinical trials and there are a lot of good things happening with Duchenne research.
I got to know Jesse’s Journey in April 2014 after contacting the office for information on clinical trials. We were later invited to meet up with Grandpa Bob (who was doing a major fundraiser for Jesse’s Journey – a 4,000km walk in honour of his grandson Louie who has Duchenne). In August, 2014, when our family was at a cottage in Sauble Beach, we spotted Grandpa Bob’s RV. Grandpa Bob (Bob Facca) was in the middle of his big walk – and he encouraged us to walk with him. Josh, Kaleb, Liam, and I – along with my mother (in flip flops!) walked about 5 kilometres with Bob. We learned about his grandson and his passion to keep fighting for a cure for Duchenne. We also met Ted Lindsay (another amazing Jesse’s Journey volunteer and uncle of Eric Morden, who has Duchenne). Through Ted, we attended Eric’s Amazing Race, and we took part in the Jesse’s Journey Walk to Defeat Duchenne in London.
So where are we now? Liam and Kaleb know a lot about the disease they have. We don’t hide any information from them – because the more you know, the further you go. Kaleb is taking part in a trial using “lung volume recruitment”, which is led by Dr. Sherri Katz and funded by Jesse’s Journey. The technique is performed using a face mask or mouthpiece and a hand-held resuscitation bag to stack breaths, inflate the lungs and help clear the airways. If effective, the study would change clinical practice by including twice-daily treatment as part of the standard of care for Duchenne patients.
Kaleb has a wheelchair now (mostly for school and “just in case”), but the physiotherapist says Kaleb is quite flexible which is a good thing for someone with Duchenne. Six-year-old Liam has AFO’s (ankle foot orthotics). The boys have switched schools, to one that’s more accessible. We live in a two-storey house now, but will eventually need to move to a one-storey house.
The boys will lose the ability to climb stairs and then the ability to walk. They will lose their ability to get dressed on their own, to feed themselves and then even the ability to hug us. They will lose the ability to breathe on their own and at an age far too young their hearts will even lose the strength to beat.
Right now, we stand to witness these changes in our lives. We know there is no medicine available for them that can stop this or even slow the progression down. So as parents we learn as much as we can to help our sons and try to share our knowledge to spread awareness and raise funds for research. We know that what we can do is love, be happy to have each other and live for right now. We are thankful for today and remain hopeful for the future; it is our only option but it is not a cure.