Falmouth, Maine couple searches for answers to daughter’s rare disease, connects with other patients worldwide:  Tess Bigelow, 14, has a rare gene mutation that has inspired research to find potential treatments

Patients with rare diseases often endure years of trying to figure out what is wrong with them.  A couple in Falmouth, Maine turned to social media to help solve a genetic mystery surrounding their daughter Tess Bigelow, who has many complex health issues, including autism and epilepsy.  Since that fateful post more than eight years ago, the family has connected with similar patients worldwide, raising awareness and funding for rare disease research.

The couple said their daughter loves snacks, crackers, and fruit which are some of her favorites, and said she loves being with her friends in class.  “She is probably one of the few middle schoolers, that loves school,” Kate McCrann, Tess’s mom, exclaimed.  Thanks to her parents, her older brother Dana, and an incredible team of doctors, therapists, and support workers, the middle schooler is becoming more independent every day.

NEWS CENTER Maine first met Tess in the summer of 2017.  She was born with several health problems, including autism, abnormal brain MRI epilepsy, vision, and gastrointestinal problems.  When she was 5, doctors said she suffered from a mutation of her USP7 gene, so rare even a Google search led to a dead end.  As a last resort, her father, Bo Bigelow, posted her story on Reddit.  Mike Fountain, a researcher at the Baylor School of Medicine in Texas, who was studying the mutation, e-mailed the family within 12 hours.  “The e-mail said:  ‘Hey this is the gene I work on at Baylor, I know of other patients.  We should talk,’ so we were laughing and crying when that came through,” Bo explained.

At that time, Tess was the eighth person in the world diagnosed with a rare disease called Hao-Fountain Syndrome.  In 2017, the couple helped launch a foundation, Foundation for Hao-Fountain Syndrome, USP7 Gene, and have since connected with the families of 200 similar patients in 25 states and 29 countries —bonding with parents also searching for answers — on many different levels.  “You understand their pain,” Kate said empathetically.  “You don’t have a diagnosis?  Maybe you belong with us.  And one by one, we have found families that way,” Bo explained.

The family is also working to raise awareness.  A film from Bo’s podcast, ‘Tess is not Alone, A USP7 Story’ has premiered at the Rare Disease Film Festival.  The father of two co-founded the Disorder Channel, streaming films about the rare disease journeys of patients.  The foundation is raising money to fund research.

A study currently underway at the University of Connecticut Health, led by UConn Health Structural Biologist Irina Bezonova, could lead to potential therapeutic strategies for treating the disease.  And more answers — the oldest person known living with the rare genetic disorder is in their mid-40s.  “We only have a certain amount of time, so we just have to hope,” Kate said passionately.  And this family is not slowing down any time soon, working to find treatment or a cure for a growing number of patients.

REFERENCE:  WCSH-TC/WLBZ-TV (Portland-Bangor, Maine; 14 FEB 2024; Vivien Leigh (NEWS Center Maine)