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Gene Therapy Provides Hope for Local Families

It’s easy to think about a rare genetic disorder in the abstract – as something that happens to someone else in some faraway place. But two Columbia families have become the public face of two of these rare and devastating disorders.

Eliza O’Neill was four years old when she was diagnosed with the terminal brain disease Sanfilippo Syndrome — sometimes called “childhood Alzheimer's.”

A degenerative condition, the syndrome can look like Autism at first. Trouble keeping up in school can quickly deteriorate to difficulties with speaking, walking and swallowing, and eventually complete dementia, feeding tubes and confinement to a wheel chair. Most children with Sanfilippo will not live past their teens.

Eliza’s mother, Cara O’Neill, was more knowledgeable and experienced in this area than the average parent as she happened to be a pediatrician specializing in the care of special needs children. But she said she never could have anticipated the need to leave left her position as a practicing physician and assistant professor of clinical pediatrics at the School of Medicine to focus on the health of her own daughter.

After learning there was no cure for Sanfilippo, Cara and her husband Glenn launched the Saving Eliza campaign with a moving viral video that garnered national media attention. They raised more than $2M, largely through social media and crowdfunding, to pay for the clinical trials that made it possible for their daughter to receive the only possible treatment for the syndrome.

Eliza received an experimental gene therapy delivered through a single injection to the central nervous system in May of 2016.

The O’Neills were able to reunite with the Ohio researcher who developed Eliza’s treatment, Dr. Haiyan Fu, at a recent annual symposium hosted by the UofSC School of Medicine’s cutting edge Genetic Counseling Program. Fu was a presenter at the event, which brings leading geneticists together to explore and discuss the latest discoveries and innovations in the field.

Cara and Glenn O’Neill with genetic researcher Dr. Haiyan Fu (right)

The family was also on hand to talk with genetic counseling students, providers and medical professionals about their experience and hopes for the future.

“Genetic counselors can make a significant difference for families,” says O’Neill. “The counselor is often the family’s first point of contact, and the person who can help them understand complex information and make informed decisions during an incredibly stressful time.”

Since Eliza’s therapy, the family reports that they have seen some improvement in her condition.


“We were a normal family,” says Mandy Mathews. “This stuff happened to other people.”

In 2009, both of Mathews’ sisters were diagnosed with colon cancer. Laura Wetsel was 23 and Rebecca Jean Garner was only 21. These unusual cancers were caused by biallelic mismatch-repair deficiency syndrome, or BMMRD, an extremely rare and complex condition which leads to multiple cancers in children and young adults.

The family was searching for information about the disorder online when they learned about Dr. Uri Tabori’s research through a Facebook group.

Tabori, an oncology scientist with the University of Toronto Hospital for Sick Children, or SickKids, traveled to the UofSC Genetic Counseling Symposium to speak about his international research team’s efforts to develop an effective treatment for BMMRD.

In 2015 Wetsel learned she had breast cancer, and doctors found Garner had a highly aggressive type of brain tumor – glioblastomas or GBM – during one of her routine MRI tests.

Rebecca Jean Garner died in April of last year after enduring many interventions and surgeries. Her final wish was that her body be used to aid Tabori’s research, in hopes she could help others suffering from the syndrome.

The family says it’s important for the public to know about the rare disorder because standard cancer treatments are dangerous for people with BMMRD – radiation and chemotherapy can actually cause other cancers to form. People who have the syndrome need unique therapies, and regular screenings.

The Love Always Becca Jean foundation aims to help create that awareness, and raise funds that will continue the SickKids work to find a cure.

Rebecca Jean Garner’s family with oncologist and scientist Dr. Uri Tabori (back row)

December 28th, 2016