Family donation fuels life-saving research

When Canadian businessman James Thoms sold one of his companies, his family’s priority was financing clinical trials to help treat millions of patients, including his grand-daughter who suffers from an incurable genetic disorder that causes nerve tumors.

Myriad Canada received 700,000 CAD from the family and is collaborating with the Children’s Tumor Foundation in New York to finance ambitious scientific research.

“I feel that the cure or at least the therapy is on the horizon and I’d rather get there now while it can potentially have an impact on Camille’s life.” Roland Thoms, James’s son and Camille’s father

A chronical disease

“My father talks about his long life and how he would lay his life on the line to help his grand-daughter.

We have the ability to contribute and to help push the cause forward,” says Roland Thoms, whose 21-year-old daughter Camille was diagnosed with Neurofibromatosis (NF) at the age of seven.

The University of Utah student suffers from NF2, one of the condition’s three types. “Camille is  lind in one eye, deaf in one ear, has balance issues and doesn’t have full command of her sensations, but she’s still a thriving young woman living her life,” he adds.

The family are pinning their hopes on a future drug therapy that would halt the growth of tumors, thereby avoiding the need for constant surgery and the risk of further damage and possible loss of mobility.

This is crucial for sufferers, says CTF president Annette Bakker, a biochemist originally from Belgium: “It’s a life-long condition with unpredictable challenges. As one parent describes it, having NF is like walking into a train tunnel
in the dark; you don’t know what’s going to come but when it does it hits you really hard.”

Encompassing three distinct disorders, NF1 affects one in 3,000 of the general population, while NF2 is diagnosed in one in 30-40,000 and the rarer NF3 schwannomatosis in around 1 in 50,000.

“They all have in common a loss of tumor-suppressor genes,” says Dr Bakker. While tumors are largely benign, they cause serious health problems. “In NF2, the main problems are loss of hearing, sight issues, balance issues, innitus, and brain tumors which can be life-threatening when they compress the brain stem,” she adds.

Scientific research

The donation will play a key part in advancing NF2 study; a project that has assembled researchers from world-class medical centers. And the research is connecting and incentivizing stakeholders. It brings together the sometimes insular academic world and naturally risk-averse pharmaceutical companies while patients are firmly positioned in the centre. “At the Children’s Tumor Foundation, the patients set the mission of the research project,” points out
Dr Bakker.

“The findings of this 18-month research will be open source”, underlines Benoît Fontaine, Executive Director of Myriad Canada.

Community

Recognition of the CTF’s growing role in finding a cure further inspires the team in its equally-important commitment to supporting families. “We are not just a research machine, we are a people organisation and a community builder. Our goal is to be that safe haven and we empower patients so that they can really participate,” says Dr Bakker.

She also underlines the importance of providing accurate information that doesn’t simply paint a picture of hope.

For Roland Thoms, his family’s realistic expectations yet confidence in future NF2 drug therapy, has been motivating. “We have not yet seen any tangible benefits, but I’d rather be doing something than sitting back and feeling helpless. I feel that the cure or at least the therapy is on the horizon and I’d rather get there now while it can potentially have an impact on Camille’s life.”

• Myriad Canada is a registered charitable organisation in Canada working with individuals, families, corporations and foundations, helping them to support their favourite causes anywhere in the world. Myriad Canada crafts personalized solutions for one-time gifts or recurring donations through donor-advised funds.
• The non-profit Children’s Tumor Foundation has a mission to drive research and advance
  care for the NF community. Over the past 40 years, CTF has funded the best and brightest
  research to break through barriers and forge the pathway that will lead to a cure.