From low probability to unique, we redefine our rare disease family

You get the call. It’s rare, they say. Probability is low, statistics meant to comfort. They assure you this doesn’t happen often.

But sometimes, despite all the reassurances, rare things happen anyway.

When it happened to us, I immediately wondered what I could have done differently. I blamed myself for my choices, or lack of them. Still, I couldn’t fathom it: How was my daughter born with a rare genetic disease? We had no family history, and I had followed the guidance of my OB-GYN. How and why did this happen?

Now, as a caregiver to a child with Pompe disease, I see that rare does not mean impossible. It does not mean it won’t happen to you. I have never been a risk-taker or one to leave things to chance. But statistics and probabilities are the language of doctors, and sometimes, even the low odds are not enough.

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Rare diseases don’t care about odds. They don’t check spreadsheets, graphs, or percentages. They arrive quietly — in my case, without warning — and suddenly, life becomes something that could never be expected or predicted.

Pompe disease is rare, which can feel isolating. Without a nearby community or parents at the playground who understand, it’s hard to find instant relief through connection. I have found that very few people even know its name. I’ve encountered some medical professionals who couldn’t even pronounce it. Through these experiences, I quickly learned that most people around me had never heard of what now shapes my daily life. What I was experiencing was rare.

Two years after my second child, Caroline, was diagnosed with Pompe, my oldest daughter, Evelyn, began to lose patches of hair and was soon diagnosed with alopecia universalis. Although alopecia is an autoimmune condition and not a genetic disease like Pompe, it was equally life-changing. Within months, Evelyn lost all the hair on her body. While I was learning to adapt to life with Pompe disease, I also had to adjust to having a child with alopecia.

Showing up for the life we now live

After Caroline’s diagnosis, Evelyn’s alopecia felt less overwhelming. One rare disease had shaken my foundation. Another felt like just one more challenge to shoulder. My outlook shifted as I learned to let go of my need for control and predictability.

I learned to hold two truths: grief for what I didn’t choose, and courage for my daughters’ futures. There was little time to mourn the life I imagined; I had to show up for the life we now live.

Many Pompe or other rare disease families share my experience. Through online communities since each diagnosis, I feel less alone, but it’s still hard. My kids are young, and explaining a rare disease is overwhelming.

Early on, I chose to shift the focus from how rare we are to how unique we are. I build their confidence by reminding them that everyone is different. Being rare means being one of a kind, original, extraordinary. We lean into standing out and making a statement, each in our own way. However, rising above doesn’t mean pretending it isn’t hard or forcing gratitude. It means starting each day with bravery, resiliency, and sometimes uncertainty.

Rare things happen to families every day that they could never expect. When they do, we learn something profound: Even in the rarest circumstances, we find unexpected strength. We are rare.

Note: Pompe 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 Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.