When your daughter is fighting a pair of rare and painful diseases, it helps to gather some of the best doctors from around the world to compare notes.
That’s the idea behind the CSF Flow at Niagara Falls Conference next week at the Hyatt Regency Buffalo Hotel and Conference Center.
More than 100 neuroscientists from 19 countries will be on hand to talk about chiari malformation — which occurs when the bottom part of the brain, the cerebellum, descends out of the skull and crowds the spinal cord, putting pressure on the brain and spine — and two related conditions: syringomyelia, in which fluid invades the spinal cord; and Ehlers-Danlos syndrome, a connective tissue disorder.
Sufferers experience symptoms that range from mild to serious, including headache, dizziness, muscle weakness and abnormal curvature of the spine. Each disorder can cause severe pain, permanent nerve damage and paralysis.
Mark Kane and his wife, Barbara, who live in West Seneca, worked to bring the conference to the region. The couple started the Column of Hope Chiari and Syringomyelia Research Foundation two decades ago after their daughter, Laura Kane-Punyon, was diagnosed with those two conditions.
“We call her a force of nature. She just plows through stuff that maybe somebody like me wouldn't be able to,” her father said this week.
A fundraising dinner at the end of the first day the conference on Wednesday and an information session for patients and caregivers from 8:30 a.m. to 1 p.m. Saturday are open to the public. Otherwise, medical providers will have private discussions about what they have seen help patients with the chronic conditions, for which a cure remains elusive.
“We want to have an honest discussion of what's working, what's not working,” said Mark Kane, who owns the Kane Firm, an accounting business in Williamsville. His daughter — diagnosed with her conditions during childhood — returned to the region from Connecticut five years ago to help run the company.
Laura Kane-Punyon, 34, and her husband, Jason Punyon, have two children, Elle, 6, and Dex, 3.
Kane estimated that 1,000 to 1,800 people in the region, and more than 300,000 Americans, have chiari malformation. Many diagnosed with the condition in Western New York had to leave the region for treatment before Dr. Renée Reynolds arrived several years ago.
Reynolds did her neurosurgical residency at Duke University and was fellowship trained at the Seattle Children’s Hospital program headed by chiari and syringomyelia expert Dr. Richard Ellenbogen, former co-chair of the NFL Head, Neck and Spine Committee. She will be among featured conference speakers that also include Drs. John Oró from Colorado and Marcus Stoodley from Sydney, Australia, considered international leaders.
Some of the more than $925,000 in donations provided through the Column of Hope foundation help fuel the research of the three doctors, Kane said.
Kane-Punyon hasn’t needed surgery during the last nine years but continues to need therapy and medication to manage her conditions, her father said.
Meanwhile, researchers have begun to understand the causes of the conditions and are are closing in on ways to address fluid build-up in the spinal column, Kane said.
“Still,” he said, “If you had appendicitis and I dropped you off in any one of 200 cities in the U.S. every doctor would know how to take care of you, what to do. … With these conditions, even the experts disagree. I can drop you in 100 different cities, you could get 200 different ideas what should be done.”
Patients and caregivers interested in learning more about the conditions and registering for the free patient information part of the conference can visit columnofhope.org or email firstname.lastname@example.org. Those interested in registering for the dinner gala or conference can do so at csfflowsatniagarafalls.org.