Thursday, May 09, 2013
by Mark Beckwith
In 1998 I met Karen Ball. Karen is the mom of Kaelin, born with a birthmark covering most of her face. When Kaelin was born, her parents were frustrated by the lack of information available, and by how few doctors really understood her daughter’s rare disease.
I’ve talked about it before, but it bears repeating how I have learned that nearly all of us doing what we do here at Nevus Outreach do it for these same reasons – we are relatives of a patient and we are not satisfied with obviously sketchy information and knowledge, so we set about changing that, because if we don’t do it, nobody will. The curse of rare diseases is that for the scientists and doctors, usually things that are less rare are far surer career tracks. Personally, I don’t blame them.
Nobody gets lit up about this stuff more than parents with affected little babies, I think.
Last night I attended the opening ceremony of the International Investigative Dermatology meeting in Edinburgh, Scotland. I ran into Karen, and she was giddy with anticipation of the pending announcement in the New England Journal of Medicine, that the gene mutation which causes her daughter’s birthmark had been identified.
Karen is President and CEO of the Sturge-Weber Foundation, and her daughter was born with a port-wine stain and Sturge-Weber syndrome. But when I consider her story, I feel like the day is drawing nearer when we will get to make a similar announcement.
Both rare diseases occur with similar incidences – one case in 20,000 births. Port-wine stains can occur alone or as part of Sturge-Weber Syndrome (SWS), the same way that large nevi can occur alone or together withneurocutaneous melanocytosis (NCM). There are rarer, life-threatening facets to what is otherwise largely harmless, medically speaking. Both birthmarks are visual defects with psycho-social impact and they can affect self-esteem ; both carry a slightly elevated risk of being associated with some more dangerous outcome.
Few know this better than I, as my teen daughter has a giant mole covering more than half her body, and neurological problems caused by having deposits of melanin in her brain. To me, though, it’s a great day to celebrate with our kindred souls affected by port wine stains and Sturge-Weber syndrome. In my work with both the scientists and the other patient associations, I am confident that it is only a matter of time before we are crowing the same message – that the mutation is confirmed and the quest for therapies is taken to a whole new level.
Congratulations to Karen Ball at the Sturge-Weber Foundation and all the patients affected by port wine stains and Sturge Weber syndrome.
L to R: Dr. Heather Etchevers, Nevus Outreach-funded scientist; Karen Ball, President and CEO of the Sturge-Weber Foundation; and Mark Beckwith, CEO of Nevus Outreach.