I’ve been pretty excited to start talking about rare diseases. I thought Crohn’s Disease was rare, affecting about 1.4 million Americans. But it turns out, its not! A Rare Disease is defined as affecting fewer than 200,000 Americans.
Though that’s a very small amount of the population, there are about 6,800 rare diseases. And if you clump all those diseases together, you have 30 million Americans (or 1 in 10) that have a rare disease.
With so very many of those diseases out there, I wanted to start with a story of hope.
Janelly Martinez-Amador was born with a severe case of hypophosphatasia–a genetic disorder of the bones that prevents mineralization of the skeleton–and her bones didn’t even show up on x-rays. She had trouble breathing because of her underdeveloped ribs. Over time, she lost the ability to move on her own.
By age 2 and 8 months, her condition was so severe, she entered a clinical trial, even though it was meant for children at least 3 years old. The 10 other children started seeing improvements, but Janelly didn’t. Her scans didn’t change. Months went by.
Janelly’s family started to notice she was moving more but her doctors disreguarded them as hopeful parents because still her scans didn’t improve. It seems the doctor started to think the clinical was a failure because her disease was too severe and Janelly had too little for the medicine to act on. But evidently there was still enough bone left and the medicine (an enzyme called asfotase alfa) and Janelly has drastically improved.
All the other children in the study were getting better and Janelly wasn’t. It was disheartening but they waited so long and saw hope in the face of failure… Now, for the first time in her life, Janelly’s bones are growing! She breaths on her own and even dances!
Moral of the story? Don’t give up until the fat lady’s sung, gone home, taken a bath, and is soundly snoring.