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…
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Keeping Your Angel Busy
Captain’s Log, Stardate 04.14.2020: This is our 34th day of self-quarantine. To survive, we’ve had to adapt to new restrictions and find distractions to prevent ourselves from losing our marbles. *** Easter was quiet. Instead of having family and friends join us to celebrate,…
I learned to cook by my mother’s knee. We baked cookies and kneaded dough. She even would give me cake batter for my turquoise Easy-Bake Oven. Sometimes, Mom would pull up a chair to the kitchen sink for me to stand on.
Privacy Makes Me Sick!
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…
For the longest time, my daughter’s motto was, “I may not know where I’m going, but I want to get there fast.” Jessie wore overalls as a kid, which gave me something to hold onto. But she started pulling me by the hand as she…
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…
My Son Is Not Your Guinea Pig
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…
For many kids, September typically means it’s time to go back to school. But for my daughter, Jessie, it was a continuation. Jessie was fortunate to have a year-round program, or at least I felt that way at the time. Due to her significant delays, the…
If my daughter, Jessie, doesn’t like what she hears, she will walk away. When her boyfriend — more of a buddy than a romantic interest — gets frustrated, he raises his voice and curses like a sailor. Jessie is unimpressed by his outbursts and avoids him…
Angels Change Over Time
I was on sabbatical this summer and didn’t write for Bionews Services or my blog. Sometimes you don’t realize how burned out you are until you stop. But the longer I went without writing, the more anxious I became. When people asked if we…
Recent Posts
- After Aspire trial: Holding on to hope for the Angelman syndrome community
- 3 antiseizure drugs show effectiveness in Angelman children, study says
- What we pack for the hospital for a child with Angelman syndrome
- Finding a swimming program tailored to a child with Angelman syndrome
- Once-promising Angelman treatment fails to meet main goal in trial
- Parenting a child with Angelman syndrome requires constant vigilance
- Phase 3 trial begins testing potential Angelman syndrome treatment
- Our nonverbal son’s hospitalization taught us some important lessons
- Angelman clinical trial enrolls children to test new treatment
- Angelman syndrome seizures are unpredictable, but we carry on