When your three-year-old is diagnosed with a rare disease, the Internet is often the first place a parent turns for answers. When Angie and Denis Edroff began searching the web when their daughter Jeneece was diagnosed with neurofibromatosis, they found the B.C. Neurofibromatosis Foundation.
“We connected with them when she was first diagnosed and went to some support group meetings and shared our story, and found out that we weren’t living through this alone,” said Angie.
Support groups were the same way BCNF founder Paul Ralfs began when he formed the foundation in 1984.
Like Jeneece, Ralfs was diagnosed as a child. It was 30 years ago, when a tumor between his kidney and spine forced him into Vancouver General Hospital, that the journey began for the creation of the foundation.
“I went into the hospital for nine weeks,” said Ralfs.
NF is a genetic disorder that causes tumors to grow along the nerves. The term neurofibromatosis is an umbrella name for three distinct disorders that share a common manifestation of tumors that grow in the tissues surrounding nerves.
Eventually Ralfs had surgery and the tumor, along with his right kidney were removed. He was unable to work following the surgery, and has been on disability since.
The following year, when he paid a visit to geneticist Dr. Judith Hall for test results unrelated to NF, the idea of starting a B.C. support group came to him.
“By that time I was feeling a need for support,” said Ralfs. “I thought I’d like to start a support group because there wasn’t anything in existence at that time. I thought I would ask her advice, but before I had the chance, she asked me if I wanted to start a group.”
With Hall’s help, Ralfs and 17 people held their first NF support group at Central Park in Burnaby.
Since then, the foundation has grown to include a board of directors and is now based in Victoria.
“They have a lot more programs now than when the foundation first began,” said Ralfs. “We send kids to a children’s camp for NF in the U.S. every summer. We also have a scholarship for those high school students wanting pursue post-secondary and we used to hold a medical symposium, but are now doing webinars on more specialized topics.”
While the foundation continues to raise money and support those with NF, Ralfs said more awareness and education is needed.
“One of the problems for a lot of NF patients is a lot of doctors won’t even take them,” he said. “I think maybe because they don’t feel they can do anything to help the patient or because of their lack of knowledge.”
Jeneece recently ran into what Ralfs is referring to when a large tumor in her leg was discovered.
“Frankly it’s an NF tumor that usually shows up in adults, not someone Jeneece’s age,” Angie said. “They weren’t used to seeing it, and when you’re not used to it, the mentality is to sit, wait and see what happens.”
Because of Angie’s experience working with the BCNF as program co-ordinator, she knew this wasn’t the kind of tumor you want to sit, wait and watch.
Instead Angie reached out to the Mayo Clinic in Rochester, MN, and in February Jeneece went to see a specialist.
“He said he’d seen many tumors like Jeneece’s that had gone malignant very quickly,” Angie said.
While the specialist suggested the tumor be removed as quickly as possible, the decision was left to Jeneece due to potential side effects of more paralysis in her leg or more pain – a risk the teen was willing to take.
“He managed to debulk the tumors and she has had very little pain now, and no paralysis. There is a bit more sensitivity, but that’s to be expected at this point in the game. The tumor wasn’t malignant, so that is also a plus,” Angie said.
While the outcome of Jeneece’s surgery was positive, Ralfs would like to see a clinic built in co-ordination with Jan Friedman’s NF research lab at the University of British Columbia.
The foundation is currently looking into the logistics of a clinic, including hiring a part-time co-ordinator and finding funding.
If you’re interested in helping the BCNF, there are a few upcoming events including the Scotiabank Vancouver Half Marathon and 5km Walk on June 23.
For more information about NF or the foundation visit bcnf.bc.ca