A Rare Mind — Terry Jo Bichell

We already have social security numbers, dates of birth, addresses, license plates, heights, weights, and ICD-10 codes. Isn’t that enough? No. It just plain isn’t enough for people with rare diseases. We need one more number. A unique identifying number that can cut through all the mustard, all the red…

My son Lou’s leg has been broken for 18 months. It must hurt like crazy. If I had a broken leg even for a day, I would surely be crabby, despondent, and mean. But not Lou. Because he has Angelman syndrome, my 21-year-old son cannot speak, but he is often…

This is not a story about COVID-19. It is about Angelman syndrome and a daily jazz show, but the coronavirus does make an appearance. If it weren’t for Angelman syndrome, I wouldn’t know anything about jazz. If we didn’t live near Music City, I wouldn’t know professional musicians. If musicians…

We have a problem: My husband, Dave, is a surgeon. Normally, we are proud that his long hours go toward an undeniably good cause: to save the lives of children with heart defects. But now, in the middle of the COVID-19 pandemic, Dave’s career is risky because he is the…

Who are we kidding? What are we hiding? OK, sure, it is bad when somebody steals enough personal information to open a fake credit card or empty a bank account. But really, most of us are pretty public about our names and addresses and what we care about on social…

When my son was diagnosed with Angelman syndrome 20 years ago, I believed that we would find a cure. Lou had severe developmental delays and epilepsy. In 2000, the genetic cause of those symptoms was considered an address, not a route to treatment. Few people realized that his diagnosis…

Everybody wants my son’s cerebrospinal fluid. My 20-year-old son, Lou, has Angelman syndrome from a deletion of genes on his maternal 15th chromosome. The lack of those genes makes it hard for Lou’s brain to understand abstract concepts, such as waiting in line to buy ice cream that he…

Welcome to Terry Jo Bichell’s “A Rare Mind,” a new Angelman Syndrome News column. About 75 people, mostly women, were in the room at the Washington Marriott Georgetown, listening attentively to lectures presented by Global Genes about a really technical subject. The attendees were teachers, waitresses, housewives, and marketing executives…