Through the wonders of the internet, in the last few months I learned of the story of Melanie Cottle, a little girl in the UK who just died of Chediak-Higashi Syndrome (CHS). Her story is both sad, but also inspiring.
Melanie was only diagnosed with CHS this past Christmas at 11 years old. I don’t know the medical specifics of her case. I only know what appeared in media reports, some of which didn’t even spell Chediak-Higashi correctly. It sounds as though she may have already been in the accelerated phase of the disease by the time she was diagnosed.
To make matters worse, Melanie had a very rare blood type. Her doctors and family undertook a nationwide call for blood donors across the United Kingdom. People from high and low tried to do what they could to help. It was inspiring to see how a little girl’s need could bring people together.
The coverage not only helped Melanie, but it brought the importance of being a blood donor, if you can, to a wide audience. It brought attention to an ultra-rare form of albinism so often overlooked by everyone.
In the end, the national effort to find donors was successful. Melanie, however, died only days before her scheduled bone marrow transplant.
Even those of us who never met her mourn her loss.
It’s not enough to leave her story as just a sad story that happens in life. We must work together to help the other Melanie’s of the world get a diagnosis sooner. We must support research that will help science unravel the mystery of Chediak-Higashi Syndrome.