Rare Disease Day 2023
It's Rare Disease Day.
My youngest two boys, including the one on my shoulders in my profile picture, have X-Linked Hypophosphatemia (XLH), a rare condition affecting 1 in 20,000.
When we lived in Switzerland, the doctors checked my kids' blood tests against the adult rather than the child standards and failed to diagnose it.
When we moved to Guernsey, my wife figured it out and the paediatricians didn't believe her. Our GP did, we self-referred to Great Ormond Street and the specialist confirmed the diagnosis.
In the UK the standard (still pretty new) medication is available. In Guernsey it wasn't. We had to apply and were planning to leave as we didn't expect it to be approved. It was.
My kids will always be smaller than everyone else. They still have major issues with their teeth, one had to have some removed last week. But their growth should largely be normal from now on.
The medication is still not approved for adults and it will be needed.
I will be using my own charity pitch to raise money for the condition later in the year.
Thank you for reading.