'Rare' is the loneliest number

I'm honoured to share this post from Catherine Calhoun of Saint Francisville, Louisiana. Catherine volunteer manages the RARE blog for the Children's Rare Disease Network. Thank you for sharing Catherine and welcome!

'Rare' is the loneliest number

By Catherine Calhoun
The three taboos related to my son’s rare syndrome (McCune-Albright syndrome/fibrous dysplasia) are pain in kids, deformity (especially facial deformity), and early death. As a group of parents who meet at family conferences and online, we rarely speak of these things.

When I went looking for help for my son’s bone pain – it’s a crippling curl-up into a ball knees to chest and cry at night sort of pain – I found no support. I found doctors who doubted that he could be in such pain. I found doctors who said ask someone else about this pain. I found doctors who said we don’t know why he has this pain – some kids have pain and some don’t. I felt alone and a little like I was calling out for Ferris Bueller.

We’ve now worked out that his endocrinologist will order the medicine he needs for IV infusion and my son sits in a primarily adult infusion clinic monopolizing the television with his Scooby Doo videos. We don’t know what this medicine will do to my son over time. We guess it’s better than getting a second grader hooked on narcotics.

As the medicine drips into his arm, I try not to think of toxicities. At the end of the day, I have to go with “treat pain” and push worries for the future aside. I can’t really let my son stay curled up in a ball unable to move for pain indefinitely, can I? And I’m looking at a lifetime of pain for him. How can I even get out of bed in the morning? I sometimes wonder this as I drag myself out of bed in the morning. But then the medicine kicks in for him over a period of two weeks, and I pretend that maybe the pain will never come back.

During our medical travels, we met a young adult who has MAS/FD like my son. He is delightful and more than kind to my son – wheelchair racing him and listening to his chatter. As we sit down for dinner, my son says: “Mom, look at his legs, they are crooked (And makes a crooked line “C” with his finger for a visual in case I didn’t understand).” My best reply: “Sometimes that happens.”

I want to know “when does it happen, why does it happen, will it happen to my son too?” These bones can turn to something liquid-like, rarely but still. These bones can move all about the face causing marked asymmetry, as well as vision loss and hearing loss. My son is a living grenade – as his condition progresses “what will happen?”

No one really knows the prevalence with a best guess of one in 100,000 to one in one million. It has a vast spectrum – very mild (you might not even know you have it) to lethal. I have not found another boy in the world my son’s age with bones as bad as my son’s bones – but there is probably someone somewhere in the world, probably.

Five families lost someone to MAS/FD last year. When I think of how one of these young adults was not found for some time, I can hardly breathe. The parents had died years before and this adult had no siblings. Noticing the absence, the loss, was left to co-workers. I know that complex medical issues and disability make building social connections harder, make marriage and kids and all of that more unlikely. I hate that for my son, hate it – the feeling of the deck stacked so far against him at the start.

I just returned from a family conference where for the first time in six or more conferences, we spoke honestly about the pain and the craniofacial deformities. I appreciated when one young adult acknowledged that people stare, every single day. And while I don’t yet believe the “everything happens for a reason” spin, I'm grateful that when I say that “I feel like I have brought this sweet lamb of a child, my son, into this world to suffer” an old-timer dad says: “No, you’re here to make a difference.” God, I hope so.