The ups and downs of Simon’s first trip to Nemours

Early in Simon’s journey with Morquio syndrome, we learned that the global hub for research and orthopedic treatment is at Nemours Children’s Hospital in Wilmington, Delaware. Dr. Shunji Tomatsu, for example, is one of only a handful of researchers worldwide who is studying genetic and biochemical therapies for patients with Morquio A. Similarily, Drs. William and Stuart Mackenzie – a father son duo of pediatric orthopedic surgeons – specialize in treating patients with Morquio. For years we wondered if it would be worth the trip to Delaware to learn from this team of global experts.

In early 2023, we were so grateful to be able to get Simon enrolled as a patient in a natural history study of Morquio A patients funded by the US National Institutes of Health through Dr. Tomatsu’s lab. With nearly 60 patients enrolled, the study will measure the progression of the disease over 5 years with week-long visits to Nemours every 18 months. Our first trip down was in March 2023 – Simon, Trevor and I flew to Philadelphia for a week of all sorts of highs, lows and in betweens!

On arrival we were met by the research coordinator, Ally, who did an incredible job of making us feel welcome and ensuring that all of the logistics were seamless. She was a delightful host! The first day included gait analysis at the physio lab, very cool technology that will give the team a detailed understanding about Simon’s mobility. Simon was such a trooper getting the fancy stickers all over his body and walking back and forth many times across the room. He even snuck in a few dance moves along the way! After that, Simon did the 6-minute walk test by wandering all around the hospital. At BC Children’s Hospital (BCCH), his 6 -minute walk test is back and forth down and back on a short hallway – I much preferred the technique of walking around the hospital because it felt more like ‘normal’ walking than a test. I’ll be talking to the physio team at BCCH to see if they can adjust their approach!

After the physio appointments we got to tour around Wilmington, Delaware – a lovely little city with so much to see! From free art galleries to a duck pin bowling restaurant (Wilma’s – highly recommended!) and the Dupont Environmental Education Centre with raised walkways on a wetland (awesome birdwatching!) – we really enjoyed the time we spent exploring there.

After a fun afternoon, we headed back to the hospital for an evening MRI appointment. Simon is so patient and is able to do the MRI without any sedation – he’s a master at staying still the whole time. It was about an hour of imaging total – including his hips, spine, neck and ears. Suffice it to say, we were exhausted and happy to head to bed at the hotel afterwards.

The next morning we went to Nemours audiology research centre for a suite of high tech hearing tests before heading out to explore Wilmington again for a few hours – Simon loved the Children’s Museum!

That afternoon, we returned to the hospital for Pulmonary Function tests and finger laxity testing. Simon entertained all of the researchers and clerks – and was so tolerant of the many different tests, such a trooper!

I mentioned that there were highs and lows on the trip. Wednesday night was definitely a HIGH! Through friends in Victoria we were given tickets to a Philadelphia Flyers vs NY Rangers hockey game! Simon is a huge NHL fan, so he had been anxiously awaiting the game for weeks. While the Flyers didn’t win, Simon was thrilled to have the chance to go down to the dressing room to meet their star defender, #9, Ivan Provorov. They had a great time chatting all about hockey and Trevor was also happy as a clam getting to be along for the ride! There was such magic in this experience, it’s certainly going to stick with us all forever! Also, Flyers fans for life now!

Thursday was Simon’s biggest day – bone density scan, CT scan, lab work, x-rays and a meeting with Dr. Mackenzie to discuss Simon’s hips, knees and ankles. Sporting his signed Flyers jersey and with stories to tell from the game, Simon made it through the day with so much patience and even managed to brighten everyone’s day with his smart wit and goofiness. His least favourite part of the day was getting an IV for the CT scan dye – but he got through it with some extra snuggles and some fun prizes from the child-life team.

Meeting with Dr. Mackenzie, the leading global orthopedic surgeon for Morquio syndrome, provided some fresh perspective on potential surgical interventions to keep Simon more mobile and with less pain in the years ahead. Lots to think about – very grateful for the chance to connect with such an amazing team who is so familiar with MPS 4A.

We left Delaware feeling utterly exhausted but also buoyed by the new connections and insights we gained. The research team makes all of Simon’s data and images available to us so it’s going to provide Simon’s medical team in BC with valuable information that goes above and beyond what they routinely monitor.

It was hard, but also such a gift to get a full 5 days with a 2:1 parent to kid ratio. Raising three kids always has us pulled in so many directions, leaving us feeling like we haven’t quite paid enough attention to any of them. So this time to deeply connect with Simon without the distractions of work or home life, really did feel like such an unexpected gift from this experience.