Columns

Spreading Awareness on Social Media During the Pandemic

It’s hard to believe the world is still in the midst of a pandemic that reared its ugly head two years ago. These unprecedented times have disrupted so many lives in myriad ways. One specific way it affects the rare disease community is that many fundraisers have understandably had to…

When Help Isn’t Helpful

A few years ago, I was chatting with a friend who was the primary caregiver for a family member with a terminal condition. Even though our stories were different, we had enough in common with caring for a terminally ill loved one that we could connect and have the “real…

Remembering the Holidays Before Sanfilippo

The holidays can be a difficult time for me. My sister, Abby, was diagnosed with Sanfilippo syndrome four years ago, and since then, I find my heart pulled in two directions during the holiday season. On one hand, I’m grateful for the years I had with her before Sanfilippo…

I Mustache You, Do You See Me?

It happened. It came on so gradually I didn’t even comprehend what was happening until it was there. But there is no denying it now: Will has a mustache. I can’t ignore it any longer that my baby boy has a mustache. He has pimples. He has hair in new…

Am I a Carrier for Sanfilippo Syndrome?

I received a package in the mail last week. It was a test that I will be able to take and send to a lab to find out if I am a carrier for Sanfilippo syndrome. My sister, Abby, has this rare and terminal disease for…

My Daughter Continues to Surprise Me

This is an update to my last column. When we left off, my family was about to leave our home in Houston, Texas, and fly to California, where our daughter Abby is a participant in a clinical trial. I described my anxiety about flying with Abby and all…

Clinical Trial, Here We Come!

If you have been following my column, you know that my 26-year-old daughter, Abby, has been on the verge of being accepted into a clinical trial for Sanfilippo syndrome. I am here to announce that it’s official! She was recently accepted, and we will soon venture west again to…

A Sanfilippo Parent Looks at 40

I was sore. It was nothing major, just the usual muscle aches following a good workout when you’ve been off for a while. It was late August, and the kids had returned to school. Summer is hard enough as a full-time caregiver to a child with special needs, but…

Living in the Space Between Diagnosis and Death

What bookends to live between — diagnosis and death. This is a hard place to be, no matter where you fit in — the patient, the caregiver, or a family member or friend of any of these people. No one ever wants to be here, but sometimes it’s where we…

Finding Balance Among My Many Emotions

As a Sanfilippo sibling, I experience many emotions every day. Each feels like a weight on my shoulders, and it takes a balanced mindset to juggle all of them. This is something I still struggle with. My sister, Abby, has Sanfilippo syndrome. It is a rare, terminal disease that currently…

Lessons Learned From Unanticipated Positive Outcomes

This is a follow-up to my previous column about my 26-year-old daughter, Abby, potentially being accepted into a clinical trial. To recap, my husband and I were recently notified that she might be accepted into a clinical trial for a drug called Kineret (anakinra). Researchers will study…

Some Kids Might Go to College in Diapers

“Don’t worry, they won’t go to college in diapers!” It’s the statement so many people give to parents as they go through the often difficult adventure of potty training. In the United States, potty training is normally started between 21 and 36 months, though only 40-60% of children…

Sanfilippo Can Get in the Way of Celebrating

I recently received exciting news! My 26-year-old daughter, Abby, has been selected to potentially participate in a clinical trial for a drug to help manage or minimize symptoms of her disease, Sanfilippo syndrome. My husband inquired about the trial over a year ago, and they contacted us recently…

Helping Others During Times of Grief

Grief has been a prevalent part of my life for the past year or so. My mom unexpectedly passed away early last year, and because of the pandemic, her burial and memorial service were postponed to this summer. I have spent a lot of time planning her service. This…