by Len Lear
For the third year in a row, internationally known cellist Eugene Friesen and some of his musical friends will appear at the Church of St. Martin in the Field, 8000 St. Martin’s Lane, for a performance of contemporary acoustic jazz.
The concert on Sunday, Sept. 11, 4 p.m., is a benefit for The Children’s Tumor Foundation. Friesen will appear with Trio Globo, a group of artists with roots in jazz, classical and sacred music and rhythmic influences derived from travels in six continents. Appearing with Friesen will be pianist and master harmonica player Howard Levy and percussionist Glen Velez.
Guest artists Theresa Thomason, a gospel singer, and Simon Shaheen a Palestinian-American violin and oud virtuoso and composer, will also perform. Friesen and his friends have been awarded 10 Grammy Awards.
The concert will benefit the Children’s Tumor Foundation and will aid research into a condition called neurofibromitosis. According to Mt. Airy resident Richard C. Josiassen, Ph.D., Research Professor of Psychiatry and Psychology at Drexel University College of Medicine, who told us that a close family friend has a child with the disorder, “It is a condition where tumors can grow on any kind of tissue (i.e., skin, brain, organs), and right now there are no cures. Children’s Hospital of Philadelphia is the leading center in the U.S. for treating this condition.”
“My experience with neurofibromitosis,” Friesen told us, “is limited to the victims and families we’ve met through Rick (Josiassen) in Philadelphia. This will be our third benefit concert for this cause.”
Following is an interview we conducted last week with a spokesperson from the Children’s Tumor Foundation about this condition:
How common is neurofibromitosis (NF) in the U.S.?
NF affects one in every 3,000 people, more than cystic fibrosis, Duchenne muscular dystrophy and Huntington’s disease combined. NF is worldwide in distribution, affects both sexes equally and has no particular racial, geographic or ethnic distribution.
What percentage of people with this condition have to have surgery?
Treatment options vary by patient, as NF manifestations may differ from person to person.
Is the origin of the disorder always genetic?
NF is the result of a genetic mutation, either inherited or spontaneous, and it cannot be “caught.” About half are inherited, while the other half are spontaneous. Each child of an affected parent has a 50% chance of inheriting the gene and developing NF, although the severity of the manifestations may differ from person to person within a family.
Is it ever fatal? If so, in what percentage of cases?
Most people with NF will have a near normal life expectancy, but some patients will develop more serious complications that may shorten their lives.
What are the most common complications?
Common complications from NF include blindness, deafness, bone abnormalities, disfigurement, learning disabilities, disabling pain and cancer.
Do you think that research is close to finding a cure?
Since the identification of the NF1 and NF2 genes in the early 1990s, NF research has made major strides. Today, we have a good understanding of the underlying biology of NF and have identified some of the major drug targets for the disorder. We have NF cell and animal models, vital for the pre-clinical testing of candidate drugs.
Children’s Tumor Foundation investments in the last five years, over $25 million, have already attracted more than $38 million in follow-up funding from other sources. Consortiums funded by CTF have generated 95 pre-clinical studies which have led to 16 clinical trials. One of those trials (MEK inhibitor) has resulted in over 50% of participants in a clinical trial seeing a reduction of at least 20% in their inoperable plexiform neurofibromas.
Over the years, the Children’s Tumor Foundation has identified barriers to the drug discovery process, then designed systems and processes to eradicate those blockades and accelerate the path to treatments. The Foundation is bringing everyone together — patients, researchers, doctors, pharma and volunteers — to clear the pathway to a cure.
How many years do you think it will be before a cure is found?
While it would be imprudent to speculate, we believe the work being done by the NF research community is on the correct path to developing effective NF treatments.