Columns

My 12-year-old daughter was diagnosed with Fabry disease in spring 2019. Because she’s relatively new to having Fabry, I thought it’d be interesting to collect her thoughts on life with a rare disease.   Me: What were your thoughts upon receiving your Fabry diagnosis?…

It is common for Fabry disease patients to complain about being heat intolerant. Because of this, summers can be challenging. One study reported by Fabry Disease News noted that nerve cell loss in sweat glands may contribute to sweating issues in Fabry patients.

As of today, my family has spent seven weeks staying at home due to the coronavirus pandemic. We are seven weeks into home schooling (with one fantastic week off for spring break), and practicing social distancing, which seemed odd at first and now has become our new normal.

I have started and stopped and restarted this column so many times that I have lost count. My brain is fuzzy, my mind can’t seem to settle, and my beloved routines are all thrown out the window due to all that is going on in the world these…

I’m writing this column on the eve of my daughter’s 13th birthday. We are six days into social distancing in an effort to help stop the spread of the coronavirus. My daughter has been excited about turning 13 since she was 2. She and I have…

Feb. 29 wasn’t just leap day, it also was Rare Disease Day. I wrote in a previous column about See Rare Run, a virtual race to raise awareness for people with rare diseases. Finally, the day had come to run for this great cause. Unfortunately,…

Being diagnosed with a chronic illness is stressful. Add to that the fact that most people, including many doctors, have never heard of many rare diseases, and the process becomes completely exhausting. I can’t tell people that I have Fabry disease and leave it at that because few have any…

New Year’s resolutions. Do you make them? Do you keep them? Are you still going strong? Or are you like the 75 to 80 percent of Americans who quit their resolutions by February?  I don’t make resolutions because I believe that change can happen regardless…

I recently started enzyme replacement therapy for Fabry disease at the children’s hospital where my son has been receiving the same treatment for a little over a year. The infusion days have been going well, aside from it taking up our entire day. However, I have struggled after…

It’s 4:45 a.m. and the alarm is sounding.  What comes to mind when you read that sentence? Maybe something like sleep, dark, too early, nighttime, must be a siren coming from outside … did I mention “early”? For me, this alarm signals the time…