Thomas Mooney was born in 2000, so our family joke is that he was the only one who caught the Y2K bug! Of course it wasn’t Y2K, it was Sanfilippo Syndrome. Thomas turned 20 this year.
Rose and Brett Mooney share their journey from diagnosis and denial to acceptance and creating the best life possible for Thomas. It takes a team, and this is "Team Thomas".
Thomas was a beautiful placid baby who was always smiling and only cried when hungry. He was a big eater – as long as he was well-fed, he was happy!
We heard the words Sanfilippo Syndrome for the first time when he was three years old. The term used was Mucopolysaccharidosis (MPSIII B), but Sanfilippo was easier for everyone to say.
Thomas had just started kindergarten, was wetting his pants daily and seemed ‘out of sorts’. We happened to be booked in to see a paediatrician that week so I asked her to give him a urine test as I suspected he had a UTI, and she agreed. We went home and continued with life as normal.
However, I had to wait weeks for the results and thought it was unusual the specialist hadn’t contacted me. So, I called to check and she asked us to go in and see her asap!
While the doctor explained the condition and Thomas’ future, I said nothing… I couldn’t believe what I was hearing, as I watched this energetic little boy play with his brothers, Jack and Samuel, in the waiting room.
I went home and cried so hard that I gave myself a migraine. For two weeks I cried non-stop and some days just flopped onto the floor. I lost all motivation to cook, eat or do anything.
I realised I still had my other two boys who needed me and Thomas needed them too, so I pulled myself together and got on with it, with my husband by my side making sure I didn’t fall off the cliff!
Later we were told that Thomas had Type B and the specialist made it sound like it was the better one to get! For a time, we held onto that hope.
The first thing you do following diagnosis is go online and of course there I could find nothing positive. Another mistake we made shortly after D-Day was to watch the movie Lorenzo’s Oil – that definitely didn’t help! We really weren’t in the right frame of mind and it didn’t make me feel any better.
We didn’t have a lot of information at the time either. The Metabolic doctor didn’t have much to say, and while we knew the prognosis, no-one could tell me what I should be doing or how I should be managing the disease in the day to day.
I contacted some people overseas but I realised pretty quickly we were on our own. We needed to deal with the hand we’d been dealt. So I decided to focus on the boy in front of me – and to do everything we could to keep him healthy and fit.
Being part of an Italian family, we had many family gatherings and everyone loved Thomas as he was the life of the party and would do the funniest things. We didn’t tell our family for many years about his diagnosis – we were in the denial stage.
They just thought he had delayed speech and would come good. I needed to hear and believe that then (to keep some type of normality) even though I knew the reality would be very different.
My mum always knew something was not right. Once we did tell our families, my mum said: ”He’ll be ok, you just need to feed him” – and so feed him we did!
Thomas loved to cook and would often help me in the kitchen. I’d just have to mention the word ‘pizza’ and he would run and turn the oven on and start grating the cheese!
A true Italian, Thomas loved to look good. He would never wear hand-me-down clothes, and in particular loved hats. We have so many photos of him wearing different hats. He also loved cars, and would often line his cars up in a row. My strongest memory from this time is of him lying on his arm and parking those cars, deep in thought.
Food has always been a focus. Thomas has always had lots of preservative-free and organic food. These days he loves smoothies with yoghurt and protein powder, and so far, we have managed to keep him off a feeding tube.
Both family and work life changed over the next few years. I was a teacher but left work to look after Thomas. My husband also left a great job at Qantas to help.
We’ve never had a normal working life. We went into business as owner-managers of day spas, and thankfully between the two of us we managed. Many friends and family thought our decision was strange but they didn’t realise what we were dealing with.
Five years ago, we decided to move from Perth to Cairns when Thomas was in Year 10.Life in Perth was getting harder. We couldn’t go out socially to all those Italian weddings, funerals and engagement parties anymore and we rarely went on a holiday.
Cairns was a new pace of life and meant we could really focus on our family. Our older boys moved to Cairns too. In Perth, I struggled to keep Thomas warm and he got more winter colds and infections. He hasn’t had a cold since we’ve moved to Cairns. Admittedly, the humidity does knock him about a bit, but we all use air-conditioners and he can move about more freely with less clothing.
Thomas finished his education at a state-of-the-art, newly built special needs school. There were only 10 students (with capacity for 40) there so the level of care was outstanding. He was class leader and got lots of certificates. We always laugh and say Thomas is the most awarded child in this family!
Thomas loves music. He used to love the song Blue Eyes by Limp Bizkit. His brother Jack plays the guitar and Thomas loves listening to him. We used to replay old videos of him speaking but when he saw himself talking, he would get upset and leave the room. He was well aware that he can’t speak!
After school, Thomas did a day program but there were never enough staff and by then Thomas really needed two carers. The activity centres he attended were big and the busy days would exhaust him. I was concerned he wasn’t getting that continuity of care that he had had at school and his eating really went downhill.
Many adjustments have been made over the years to deal with the decline of Thomas’ physical abilities. He could still walk on his own up until the age of 14 or so, but then many falls led to him being in his wheelchair more and more. Unfortunately, Thomas has also developed a severe scoliosis and this has further impacted his ability to walk and breathe properly as it puts pressure on his lungs.
Thomas loves to be kept busy and he spends a lot of time going for drives or walking along the beach. There are beautiful bird and wildlife parks around here which he loves to visit. The rest of the time he is a typical 20-year-old who loves to sleep in and hang out with his family and watch movies.
Thomas turned 20 in July 2020. He can still walk with assistance but requires help with everything else (all personal care, feeding, showering etc).
We like to keep him moving as much as possible. We don’t want to leave him sitting in a bean bag or bed or have to hoist him here and there. And of course, like my mother recommended he gets lots of good food and lots of love!
I can’t care for him on my own anymore. My husband is 6-foot tall and even he struggles. Because Thomas is the way he is, it’s made us very close as a family. We really are ‘Team Thomas’.Thomas’ brothers, Jack and Samuel, are great with him (they do a lot of the physical lifting), and he has two carers who come in regularly to give us a break.
When family visit they are shocked at the decline in Thomas. One day we will probably head back to Perth but for now this time together is precious. We are all enjoying all being. My oldest son lost his job during the pandemic so is home a lot. Our house is always full of activity and noise – and Thomas loves it that way!
We’re inspired by the work of the Sanfilippo Children’s Foundation and Megan Donnell in particular who has pioneered this organisation and created so much awareness. She must be commended for the time and effort she has put in. We are all time-poor yet she (and all you guys) have managed to do all this incredible work even with all of your own commitments.
I feel there is going to be a major breakthrough soon. Even though we will one day say goodbye to Thomas we all still live in hope.