With the unpredictability of chronic illness, look for the little moments

It’s hard to believe August is almost over here. Summer is winding down, and my kids will soon start another school year.

As a pediatric physical therapist working in a school, I’ve been fortunate to have my summers off with them for the last 20 years. Having this break gives me invaluable time with my children and allows me to schedule my biweekly infusions during the day rather than at the mercy of an evening appointment after a long workday.

Every May, I feel gratitude for the months ahead. Most people work year-round, so I never take this time for granted. However, recent summers haven’t been the season of freedom I had envisioned.

No one likes to talk about the instability and unpredictability of living with a rare disease. When you are stable, appointments are minimal. When things change, you can spend six or more hours a week seeing doctors, getting tests, and trying to figure out if your treatment plan is still working for you. It’s not just the physical time spent in waiting rooms that’s taxing; it’s also the heavy mental load that accompanies every appointment.

For years, my Gaucher disease remained stable and in the background of my life. Aside from regular IV infusions and annual checkups, it rarely impacted my day-to-day routine. This summer was different.

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In the fall of 2025, my geneticist informed me that my Gaucher biomarkers were changing, and new symptoms were developing. I had brushed aside my lack of energy, frequent bruising, sleepless nights, and overwhelming exhaustion, but seeing my laboratory markers shift so drastically made me realize I needed real answers.

Last October, I traveled alone for the first time to Washington, D.C., to consult a lysosomal disorder specialist. The visit provided clarity, but it also entailed two grueling days of blood draws, an MRI, a DEXA scan, and a revolving door of doctors asking relentless questions. I left feeling defeated. Seeking care helps me find answers, but it also forces me to relive the emotional and physical pain I work so hard to process.

Eventually, I decided I couldn’t let the fear of reliving past trauma dictate my future. Gaucher disease isn’t something I can simply overcome, but I can choose to take control of my health rather than let the condition control me.

Even though I knew returning to D.C. would be hard, I flew back this past week to touch base with my specialist to see if we needed to make a plan with my treatment. This time, my husband and youngest son came with me.

We made the best of the trip. On Sunday, we spent the day sightseeing, visiting monuments, and exploring museums. On Monday, I went to my appointment.

The clinical visit was a whirlwind of emotions. Still, I was grateful to meet with compassionate, thorough specialists who genuinely cared about finding the best way to manage my health. The appointment went well, yielding a potential new treatment plan alongside 12 more vials of blood, endless paperwork, and additional imaging. I continue to try to take control and manage this lifelong disease.

I knew the appointment would be hard, but I also got to create an amazing memory with my family. Instead of letting medical care define the trip, we made our time together about so much more than my disease.

As I sit on the plane flying home, I reflect on these months. My life consistently splits into two distinct channels. There is the life I share with family and friends: going to concerts, having dinner, and traveling. Then there is the other life: spending hours with specialists, enduring blood draws, sitting through imaging, and trying to secure the best care.

Was it the summer I wanted? No. But it was my reality living with a rare condition, and somehow, there were still moments of joy to be found.

I ended my final night of summer seeing one of my favorite bands. Before they played, the lead singer paused to tell the audience to look for all the little moments.

That is exactly what I plan to do. I am going to continue to seek out those moments — the ones that remind me that my life is larger than any diagnosis.

I didn’t have the summer I envisioned, but I still had one filled with moments worth remembering. I am choosing to find the moments.

Note: Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Gaucher Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Gaucher disease.