WILTIMS #147: XP Mama Bear

After yesterday's neuro exam, I am really looking forward to a couple test-less weeks before the epic finale to this first year madness. By my count there will only be ~13 more WILTIMS posts for the year and then I will try to continue through the summer with weekly topical posts about whatever strikes my fancy.

This evening there was a talk by a guest speaker who is the mother of a young woman with the very rare disorder called xeroderma pigmentosum that I actually wrote about waaaay back at the beginning of the previous block. To sum up, it's a disease resulting from a specific faulty DNA mutation repair mechanism that results in horrible third degree burns at even the slightest exposure to UV light. Parents of these kids are often reported to child protective services because it looks as though they must have purposely burn their babies.

In developed countries, diagnosed children must become essentially nocturnal and take extreme precautions to travel during the day (e.g. being sealed in a sleeping bag to ride as a passenger in a car). In less affluent regions, these children often are not able to live this protected life and just develop and die from numerous skin cancers at a very young age.

Our speaker today started a summer camp for kids with this disease where the activities are either indoor or take place at night in a safe setting. There is nothing more heartwarming than giving kids with disabilities the opportunity to play and act like "normal" kids. Her daughter, now in her 20s but still slowly deteriorating healthwise, is the subject of this now 13 year old article in the New York Times. It's long but worth the read.

Hearing her mother talk about the confusion and frustration post-diagnosis and then her determination to build a community and find a way to survive, reminded me of my parents and their counterparts that were part of the founders of the foundation for our familial rare disease. There were a lot of similarities, actually, and I'm excited that a few of my classmates can now better understand the struggles of their future patients with rare diseases. 

TIL: The three reasons that you can commit someone to a psychiatric ward are:
     1. They are an imminent threat to them self
     2. They are an imminent threat to others
     3. They are unable to take care of their basic needs

Clerambault syndrome is when someone thinks a famous person is in love with them (and that is a ridiculous claim (George Clooney's fiancé does not have Clerambault)).

Capgras syndrome is when someone believes a loved one had been replaced by a different but identically looking person.