Through the frame of the window comes the vibrant glow of a new day. Just after Jack Skilton’s 1st birthday, Robyn Skilton was referred to a paediatrician due to Jack being unable to get back up after falling down and choking on his food. When the paediatrician met with the family, he knew exactly what Jack had – MPS1 Hurler Syndrome. After a sigh of relief, they were referred to the Metabolic Clinic at the Royal Children’s Hospital and immediately put on the list for a Bone Marrow Transplant.
There is no cure for MPS, and the only treatment is the bone marrow transplant – which Jack had at 19 months of age. Just 2 years after the transplant, Jack contracted Meningitis and now has a profound acquired brain injury. Jack has had many surgeries over the years and although he is now 21, he does have a shortened life expectancy. There are 4 adults still living in Australia who were diagnosed and treated prior to Enzyme Replacement Therapy becoming available.
A day in the life of Jack consists of watching The Wiggles, Hi5, Blues Clues, and Bear in the Big Blue House while enjoying his favourite food – hot chips and of course, Freddos. Jack is fortunate to be able to attend a day program and although Jack is now 21, intellectually he is like a toddler and is on the go pretty constantly. Even though he has little understanding of the world, Jack expresses so much happiness and love to everyone around him – making them believe to never take a moment for granted and to enjoy every single moment.
What do you think other people should know about this rare disease?
Jack is missing the enzyme that enables the breakdown of waste products. It sort of resembles a house filled up with water and you can’t get rid of it. The waste products build up around the joints which over time can make movement difficult and restricted. People with MPS1 (mucopolysaccharidosis type 1) have a shortened life expectancy.
Fondest memory:
I think our fondest memories are when we have been able to spend time with family who live interstate. Jack absolutely loves seeing them and his excitement is infectious.
Favourite movie:
Jack’s attention span doesn’t lend itself to a whole movie, but he has always loved watching Hi5, Wiggles, Playschool, Bear in the Big Blue House, and Blues Clues.
Favourite activity:
Heading to the beach and having fish n chips is always a winner.
Favourite song/album:
I think we have all loved Hi5, and they are still one of Jack’s favourites.
Family tradition:
As we moved interstate over 20 years ago, and we had no family nearby, we started our own family tradition of catching the ferry from New Farm Park into Southbank, having fish n chips in the gardens, and watching the free fireworks, the week before Christmas. We would then get back onto the ferry and do a complete circuit looking at all the gorgeous Christmas lights in the homes along the river.
Favourite quote:
If it’s to be, it’s up to me.
Day in the life:
A day in Jack’s life is getting up and showering with Mum, his support worker will arrive and finish getting him ready and will then drive him to his day program which he attends with some great friends. Their activities range from arts and crafts, baking, disco and playing outside to heading out into the community to the movies, bowling, picnic in the park, visiting the camels at the camel farm, to name a few.
