Locust Valley residents Loretta and Dave McGovern are hosting the second annual Cavan’s Walk, Run and Family Fun Day on Aug. 13 to raise funds to assist mitochondrial scientists to perform research on Kearns-Sayre Syndrome, which their 13-year-old son, Cavan, was diagnosed with when he was 8 years old.
KSS, a rare, slowly progressive multi-system mitochondrial disease, is caused by a single large deletion of genetic material within the DNA of the mitochondria which stops energy from being produced, resulting in cell injury or cell death.
People afflicted with KSS suffer from ptosis, a drooping of the eyelids, which Cavan has now. He underwent surgery on his eyes to correct the ptosis so that he can see. It also effects the body’s organs. Cavan has had a pacemaker implanted to help his heart work properly. Additionally, KSS effects hearing. Cavan, who wears hearing aids, may need cochlear implants to address his hearing loss. And he’s recently been hospitalized for a seizure related to the progression of the disease.
KSS research is vital because there is no cure for mitochondrial diseases.
Early onset of symptoms
Cavan weighed 9 pounds 1 ounce when he was born and was the earliest to talk among his three siblings. His parents thought he would grow up to be tall and perhaps even become an athlete. Loretta and Dave are both athletic, having competed at the Olympic trials as racewalkers.
But by the time Cavan was 5 years old it became obvious that he wasn’t growing normally. There were other signs too that something may not be right.
When Loretta and Dave were invited to Cavan’s preschool to see his work they found it different than the other childrens. “We knew which one was Cavan’s immediately because his fine motor skills were so bad even back then,” Dave said. “But we thought it was funny. We aren’t good artistically, so we thought Cavan was like us.”
Their son’s disinterest in learning how to ride a bicycle was another sign. “At five he was still walking around fine,” Dave said. “But he wasn’t interested in learning how to ride a bike, but we didn’t think anything of it. He finally learned when he was seven, but he didn’t show any interest in riding once he knew how.”
Then Cavan’s personality began to change. “He was an extraordinary kid, very inquisitive and comfortable with adults,” Dave said. “He had an old soul when he was very young. It was hard to see that decline.”
An MRI on Cavan’s brain when he was 6 was done to determine if he was producing growth hormones. Although doctors still weren’t certain if this was the problem, they recommended Cavan start undergoing injections of growth hormones. But that didn’t help, and Cavan began to experience additional symptoms.
“Cavan was becoming fatigued every day to the point of being unable to exercise or sit up at his desk at school,” Loretta said. “Cavan’s eyelids began to droop considerably, and it became so severe that he had to tilt his head back in order to see.”
Another MRI was performed when he was 8. It indicated that the white and grey matter in Cavan’s brain had changed. He was diagnosed with ptosis, which causes eyelids to droop and Myasthenia Gravis, a neuromuscular disorder.
Cavan was put on medication, which should have raised his eyelids, but it had no impact. It takes mitochondria cells to have the energy to do this, Loretta explained.
Genetic testing was completed in April 2018, which confirmed the diagnosis of KSS, which Loretta and Dave had never heard of. Doctors found that over half of the DNA was missing in Cavan’s mitochondria, so he wasn’t producing the energy needed for his body to function properly.
“His brain, eyes, heart — every organ in his body is being effected,” Dave said.
Loretta and Dave began to research how to find help to better assist their son. The United Mitochondrial Disease Foundation helped them to find other parents of children with KSS and people who had the disease, which they said was helpful.
Cavan made a friend through UMDF who will be attending a camp with him sponsored by the Muscular Dystrophy Association this summer. “He’s going to northern New Jersey to camp,” Dave said. “It’s the first time he’s ever done sleep away camp.”
Earlier this summer Cavan went to the Helen Keller Camp at Post. Loretta and Dave joined the New York Deaf Blind Collaborative a little over a year ago, which helped them find the camp and services for their son at the New York Commission for the Blind.
“That is the hardest part,” Loretta said, “finding out what is available. With mitochondrial disease you don’t have time to look for camps. You have to focus on stabilizing the organs, focus on every body part.’
Although Cavan spends much of his time going to doctors, he’s still experiencing a somewhat normal life at Locust Valley Middle School. He performed in the school play “Matilda” this year and even had lines. And he’s a member of the school’s robotics and cross country teams and signed up for the track team.
Forming the research fund
Loretta and Dave learned early on the many disadvantages of having an uncommon disease. “Kearns-Sayre Syndrome is such a rare disease that the federal government and drug companies are not interested,” Dave explained. “We’ve gone to DC and lobbies for help, but Covid put a stop to it and to the symposium they have every two years there. We’re hoping there will be one next year.”
The McGoverns created The Cavan McGovern Family Research Fund in September 2018, “to help provide top mitochondrial scientists with the financial support they need to perform breakthrough research on KSS.”
In one week, they raised over $36,000 and in less than a year, the fund increased to $160,000. To date, the McGoverns have raised over $300,000, and are funding a drug-repurposing study under Ethan Perlman for their son.
“They are taking Cavan’s unique cell line from a skin biopsy and are testing it with about 7,000 proven drugs to see which one will improve the mitochondria,” Dave said. “It should be a few months before we find out.”
Cavan remains an inquisitive kid, Dave said, who loves science, binge watches NASA videos and loves being a member of the robotics club. “He’s interested in technology,” Dave said. “And he likes to build. When he’s with other kids he’s the greatest big brother. Cavan is very kind and likes to help younger kids.”
The McGoverns are committed to moving forward to find ways to help their son. Loretta said her goal is simple. “I just want a cure for my son so he has the same chance as other children to grow up and have quality of life,” she said. ”If there is no treatment, then we will have to fund it and find it ourselves.”
Cavan’s Walk, Run and Family Fun Day
There will be kids’ races, family field activities, face-painting, food, carnival games, and maybe a dunk tank at Saturday’s event at Ann MacArthur Primary School, 100 Ryefield Road, Locust Valley, which is from 10 a.m. until 1 p.m. The event is co-sponsored by the Middle School Parent Council and the Locust Valley Special Education PTA.
“SEPTA is proud to help support our special needs families,” Jennifer Masselli, an officer with the L.V. Septa Board said. “The McGovern’s have shown strength and determination to make a difference in their son’s life and for others who suffer from Kearns-Sayre Syndrome.”
As for Cavan, he’s looking forward to the race. Known to lead it, he intends to do so once again.