Do you ever have that jumpy tummy before a holiday? The slightly nervous energy and anticipation, combined with the prospect of forgetting something important, despite the lists (plural in my case). Yet our ‘holiday’ this year is not all-day trips and memory-making.
Tomorrow, we’re off to Boston to visit the MassGeneral Hospital Myhre Clinic, the only one in the world, and it is somewhere we haven’t visited in over 18 months. We’re supported locally by an amazing team of physicians, eight at my last count. But I’m also armed with all the questions they, and we, have on what to look out for and the thresholds for intervention. Physician visits when you’re a rare disease family involve active participation; you do your homework and arrive with insights to offer them on the journey you’ve been taking, and to a degree, you’re also representing your care team back home too.
Being in front of the cardiology team, who will perform their own echocardiogram, is the most nerve-racking time. When the clinic has seen over 50 patients, compared to our local team, which has only seen our son, you can imagine the analysis of his results comes with a specific level of Myhre scrutiny. Progression is one of the most challenging aspects of Myhre. Is the next appointment the one where the scales are tipped into a new reality?
Amongst it all, we have planned trips to the museum, aquarium, and Legoland Discovery, packing our four days away with as much fun as possible between the clinic visits. It crosses my mind that this isn’t the archetypal holiday our eldest son might compare with his friends, who, on spring break, are also traveling. Yet it’s our reality, and we will snatch moments of normality in the appointment schedule of the nine specialists we’re seeing this time.
We’re so grateful to live in the same country as the clinic because visiting internationally is nearly impossible because of the cost. But make no mistake—the costs for rare disease families are significant and run into the thousands, accounting for the associated medical bills, travel, hotel, and food. We’re grateful that we can make the trip, but it’s also important to be honest about the costs to rare families who must seek specialists wherever they reside; in our case, that’s 3000 miles away.
Amongst the tummy turns is excitement about visiting Boston again, where the red rusty colored bricks on the historical buildings remind me of a European city. There are narrow sidewalks and tall buildings with wonky windows, leaning on one another through the centuries they’ve been standing. Narrow cobblestone alleyways are undulating and draw your attention further, asking you to explore. The window boxes might not yet burst with spring blooms as we’ll see an almost 20-degree temperature difference, but that fits with the home-from-home feeling that Boston evokes.
One thing I know is that children do not let you sit in any emotion for long. Whatever updates Boston brings, the fun and activities will be the perfect antidote to any fears or concerns that stepping into the clinic will evoke. And as the saying goes, food is good for the soul, so Boston baked beans, lobster roll, and cannoli, here I come!