Ben Wilson 
Father of Gabe, who lives with Bloom syndrome
Lead Global Ambassador for the Bloom Syndrome Association
Fatherhood often brings pride and hope, but a rare disease diagnosis can reshape a family’s future. Through our “Rare Dad, Rare Hero” series, NORD is sharing the stories of fathers whose experiences with rare disease have changed how they show up for their families, care for themselves, and engage with their communities.
Meet Ben
For Ben Wilson, fatherhood changed when his second son, Gabe, was diagnosed with Bloom syndrome, a rare genetic condition that results in shorter stature, skin rashes, increased susceptibility to infections, and higher risk for multiple types of cancer. Faced with an unfamiliar diagnosis and uncertainty about the future, Ben began learning how to navigate the medical system and advocate for his son’s needs. Today, he assists other families through his leadership with the Bloom Syndrome Association and uses his voice to help ensure that people living with rare diseases are heard, valued, and supported.
Read on for our interview with Ben:
1. When did rare disease enter your life? Can you describe that moment?
I entered the rare disease community on July 2, 2024, when my son was diagnosed with Bloom syndrome.
I was having lunch with my mom, who had just flown into town for a visit, when I received an email from our genetic counselor. She explained that the results of my son’s whole exome sequencing were available and asked me to call her when I had a few moments.
When I called, she told me that the test revealed my son had Bloom syndrome. In that moment, my heart sank. As a parent, I knew I was entering a world I never imagined being part of. I was scared about what the diagnosis meant for my son’s health and what the future might hold.
2. How did the diagnosis impact your family and approach to parenting?
My son’s diagnosis changed my role as a father. In addition to caring for my children and supporting my wife, I was suddenly responsible for learning how to advocate within a complex medical system. You may not receive the answers you need the first time, so it is important to understand how to ask questions, push for answers, and advocate for the care your child needs.
3. What has been one of the biggest challenges you have faced as a father?
The greatest challenge has been navigating the complexity that a rare disease diagnosis brings to family life. Everyone faces daily challenges, but a rare disease diagnosis changes how you make decisions as a family and care for your overall well-being.
4. In what ways have you become involved in rare disease advocacy, awareness, research, or fundraising?
After my son’s diagnosis, I became involved with the Bloom Syndrome Association (BSA). I now serve as secretary of its Board of Directors and chair its Community Engagement Committee.
I have developed a passion for rare disease advocacy and have attended several conferences, including Rare Disease Week, the NORD® Rare Diseases and Orphan Products Breakthrough Summit®, and the World Orphan Drug Congress.
I use my voice to advocate for the rare disease community, support appropriate funding for research and treatments, and ensure that people living with rare diseases are heard, valued, and never forgotten.
(Ben and his family also exhibited on behalf of BSA at NORD’s recent Living Rare, Living Stronger event® in his hometown of Denver)
5. What advice would you give other dads who are beginning their journey with rare disease, either for themselves or someone they love?
After a diagnosis, you must learn to advocate for your child. You may encounter medical professionals who have never treated or even heard of the disease, so educating yourself can help you explain your child’s needs and share relevant research that may support their care.
It is also important to make time for yourself. Self-care is critical because burnout can make it difficult to be fully present for your family. Mental health support can also be invaluable. One of the first things my wife and I did was find a therapist who could support us through the diagnostic journey. There will be difficult days, and having a safe place to discuss your feelings can make a meaningful difference.
6. What are your plans for Father’s Day?
I plan to spend a relaxing day at home with Gabe and my wife. My other son will be in California for the summer, so he will not be home to celebrate with us. We may go swimming, have a barbecue in the afternoon, and watch a movie together.
Looking for support or resources within the Bloom syndrome community? Explore these organizations offering information, guidance, and support for individuals and families affected by Bloom syndrome.
The Bloom Syndrome Association supports individuals and families affected by Bloom syndrome through education, connection, advocacy, and research-focused resources.
The Human Growth Foundation provides education, support, and resources for children and adults affected by growth disorders, including conditions that may involve growth differences such as Bloom syndrome.
The Bloom’s Syndrome Registry collects clinical and genetic information to support research and improve understanding of Bloom syndrome. It also serves as a resource for families, researchers, and clinicians connected to the Bloom syndrome community.
See also: Meet D. Rolf Hill, a rare dad sharing his family’s Friedreich’s ataxia journey and advocacy story.
