This weekend Patient Worthy attended RAREfest, an event held in the UK by the Cambridge Rare Disease Network. It brings together patients and their families, researchers, doctors, and the public to engage with rare disease issues.
One of speakers at the event was Dan Jeffries, author of Me, Myself, and Eye. His book, a memoir, is a humorous and insightful exploration of what it was like to grow up with one rare disease, and then being diagnosed with a second. While we were talking he generously offered me a free copy, which is next on my reading list!
Dan’s First Diagnosis
Dan was diagnosed with Wyburn-Mason syndrome as a child. Wyburn-Mason syndrome is a rare disorder that affects the blood vessels, most often in the eyes and midbrain. “My condition was diagnosed completely by chance,” Dan says. When his dad took him for a routine eye exam, he was quickly referred to an eye hospital to see a specialist.
Wyburn-Mason Syndrome
Wyburn-Mason syndrome can cause a range of symptoms that often vary between patients. In Dan’s case, it caused vision loss in his left eye. At first, he was prescribed glasses that covered his right eye, to try to force the left eye to half or reverse its deterioration. However, it wasn’t successful and by 11 years old Dan was fully blind in his left eye.
Revisiting the Hospital
Years later, in 2007, Dan got a letter from the eye hospital that had treated him as a child, asking him to come back and be a case study for their medical students. Since his condition was so rare, the hospital teachers thought it would be a useful training exercise to ask their students to diagnose Dan. However, when he got there it wasn’t what he expected.
The students started to comment on his appearance – his large hands and feet, and protruding jaw and brow. Dan had been noticing these gradual changes in his appearance, and felt self-conscious about them. “I really did not like the way I looked”, he says. After so many medical students brought it up during their diagnoses, he decided to ask the doctor about it, and was advised to go to see a doctor about acromegaly.
A Second Diagnosis
Acromegaly is a hormonal disorder, caused by too much growth hormone, which causes a range of symptoms – including those Dan was experiencing. In his case a small tumour by the pituitary gland (which produces growth hormone) caused the condition. He underwent surgery to remove the tumour, and, he says, “Amazingly I began to change back to how I was.”
Sharing His Story
A few years after his operation he decided to write about his experiences with two rare conditions, which turned into Me, Myself, and Eye. Since then, he’s been an active member of the rare disease community, taking part in interviews, giving talks, and even organising the UK’s first ever official meet-up for people with acromegaly. Having a rare disease can be challenging, Dan says, “but it can also be incredibly rewarding,” because it gives you a chance to raise awareness and make a difference.
