by Maria LaPiana
Apr 23, 2013
08:56 AMWell, Now
Dealing with Rare Childhood Diseases
Courtesy of Seth Wohlberg
Seth Wohlberg and his daughter Grace—who suffers from a rare inflammatory neurological disease known as Rasmussen’s encephalitis—ready to cheer on the Darien High School girl’s swim team, which Grace manages (Go, Blue Wave!)
FAMILIES DEALING WITH THE ONSET of a critical illness—especially when it affects a child—are, to put it mildly, thrust out of the realm of normal coping. If the prognosis is poor (or worse, unknown), parents experience heightened levels of anxiety, grief, and a profound sense of helplessness.
Now imagine your child has symptoms so serious and complex that the doctors can’t name a cause—much less a way to treat it.
Samantha Bode was an “extremely athletic child” who played basketball and soccer, studied karate and rode horseback, remembers her mother, Mary Caruso of North Branford. But when Sam was 8, she inexplicably started falling down—a lot. When walking through doorways, she’d frequently bump into them. And when she had to close her eyes during a karate exercise, she lost her balance. “When she couldn’t do that in class, I knew something was wrong,” says Caruso. The first neurologist they saw declared nothing was amiss and chalked up Sam’s symptoms to clumsiness. Caruso would have none of it. They got a second opinion, had more comprehensive tests done, saw specialists . . . and after six months finally had a diagnosis: Friedreich’s ataxia (FA), a degenerative neuromuscular disorder with no known treatment or cure.
Friedreich’s ataxia is a genetic disease that affects only one in 50,000 Americans. But as fate would have it, Caruso’s younger daughter, Alexandria, was also diagnosed with FA, at age 6. Says Caruso: “In the beginning it was very hard. There were so few people to talk to, and those I did reach out to said we had a grim life ahead of us.”
As the years went by, Caruso learned everything she could about the disease, connected with other families who were grappling with it, and became a tireless advocate for her daughters. Today, Sam and Alex, now young women at 26 and 22 respectively, cope with speech impediments and are confined to wheelchairs, but they’ve done well for themselves. Sam has a BA in communications, and Alex graduates college with a degree in social work this spring. “It’s a struggle every day,” says Caruso. “I push them when I have to push—and I cry with them when I have to cry.”
Now very involved with the Friedreich’s ataxia Research Alliance (FARA), Caruso tirelessly pushes for more awareness of the disease, research opportunities and an eventual cure. She says she has found strength in numbers, even if those numbers are small.
A DISEASE IS CONSIDERED RARE if it affects fewer than 200,000 people. According to the Danbury-based National Organization for Rare Disorders (NORD), there are nearly 7,000 such “orphan” diseases affecting some 30 million people. “Children comprise two-thirds of that number,” says Mary Dunkle, a spokeswoman for the organization. “Up to 80 percent of the diseases are genetic and very serious. They are typically lifelong diseases, so in many cases we are working with very sick children.”
Celebrating its 30th anniversary this year, NORD describes itself as a “federation of voluntary health organizations dedicated to helping people with rare diseases . . . through education, advocacy and research.” With 1,250 diseases in its database, says Dunkle, “NORD supports federal funding for scientific research and was instrumental in getting the Orphan Drug Act passed in 1983.” This law provides financial and other incentives (including enhanced patent protection and seven years of marketing exclusivity) to pharmaceutical companies that develop drugs for rare diseases. The act is intended to mitigate the small (and generally unprofitable) market for such drugs. “It’s been very successful if you consider that only 10 drugs for rare disorders were brought to market in the decade preceding 1983,” she says. “Since then, more than 400 drugs have been approved by the FDA, and there are hundreds more in the pipeline.”
The sense of connectivity that NORD provides families is just as important as the legislation, says Dunkle. “Families dealing with rare diseases tend to feel isolated and alone. Part of our function is to connect them with member organizations, or if there is no organization, then with other patients,” she says.
Jean Kelley lives in North Branford with her son, Brian, who was diagnosed at age 6 with adrenoleukodystrophy (ALD), a genetic disease that is passed on by women, but manifests in young boys. The film Lorenzo’s Oil depicted the case of boy afflicted with ALD, in which a missing enzyme causes inflammation in the brain and damage to the myelin sheath, the membrane that surrounds nerve cells. ALD can result in some or all of the following: loss of vision, learning disabilities, seizures, poorly articulated speech, deafness, disturbances of coordination, fatigue and progressive dementia.
Although Brian did have a bone-marrow transplant (which had been shown to slow the disease’s progress) not long after his diagnosis, the results were not as good as had been hoped. “Because he was already symptomatic, he went in walking and talking, but came out in a wheelchair, with no speech and very little vision,” says Kelley.
“At first I started reaching out to other families, but then realized it might be better to chart our own course and take it as it comes. If something bad was coming, I didn’t want to know . . . I wanted to enjoy him as much as we could,” she says. In time, Kelley decided to enroll Brian in Branford schools, the community embraced him and she connected with NORD. Because research has shown that early intervention is the key to treating ALD, Kelley’s been active in getting legislation passed for newborn screenings in every state. She tells the gratifying story of a woman who, because she had lost a nephew at age 12 to the disease, had her own son tested, then treated with a marrow transplant at 2. So far, he’s shown no symptoms of the disease.
The Kelley family spent time in Florida recently, enjoying the warmth Brian much prefers to Connecticut’s winters. He’s 24 now, and although his vision is gone, and the outlook for ALD sufferers isn’t bright, his mother takes it one day at a time. “I am just hopeful that he will have enjoyment in each day, with friends and family,” she says. “Socializing with his peers is terrific. His brother and sister have been wonderful with him. He has impacted people in his own quiet way . . . he is quite a strong young man.”
GRACE WOHLBERG’S STORY is one that has been well-documented by her father, Seth, of Darien. His anguish and frustration over his daughter’s battle with Rasmussen’s encephalitis (RE), a rare inflammatory neurological disease, has grown into a passionate campaign for funding and research—a campaign he initiated in large part himself.
In June of 2008, Grace, then 10, began having seizures that myriad medical professionals couldn’t explain. “She was initially treated for epilepsy, then presented secondary symptoms not characteristic of epilepsy,” says Wohlberg. Thus began the family’s search for an answer—and, they hoped, a cure. By year’s end, having been seen at Johns Hopkins Medical Center, Grace was finally diagnosed with Rasmussen’s, a disease whose only treatment is a hemispherectomy, or surgical removal of half the brain.
Grace had the surgery in early 2009, but when her seizures persisted, it was deemed unsuccessful. The doctors’ best guess was that some tissue had been left behind.
Wohlberg persisted in finding a way to ease his daughter’s symptoms and his family’s pain. He organized a conference later that year and met Gary Mathern, the head of pediatric neurosurgery at UCLA, who was convinced he could perform the surgery again, this time with positive results. Mathern removed the additional tissue from Grace’s brain in March 2010, and her seizures disappeared. “Now 15, she still takes anti-seizure medicine; the big debate is whether you keep her on it indefinitely,” says Wohlberg. She is still recovering from the aftereffects of surgery, which include a limited ability to walk unassisted. “When measured over the years, she’s doing better,” he says, “but her physical recovery is still not that great.”
His determination to beat the disease continues unabated. Through social media, and the generous contributions and support of the Darien community, Wohlberg has gotten the word out about Rassmussen’s in a big way. Under the auspices of the RE Children’s Project, which he founded in 2010, he has coordinated impressive fundraising efforts, flown in experts from around the world for two research symposiums, and even organized a virtual tissue bank so experts at Johns Hopkins and UCLA can get closer to a cure.
“Grace has accepted her ‘celebrity’ status,” says Wohlberg, “but it has come at a cost: not playing sports, the piano, or swinging from her backyard tree, things she once loved to do. Having a special-needs child is our new normal. I’m not saying ‘woe is me,’ because there are families who have been in despair, families that have been flying solo for years. That’s why we’re doing this . . . trying to find a noninvasive treatment for the disease and give families hope.”
For more information
• This year marks the 30th anniversary of the National Organization of Rare Disorders (NORD) and the Orphan Drug Act, legislation designed to encourage the research, development and distribution of drugs to treat rare diseases. For more information, visit NORD at rarediseases.org.
• For an abstract on the development of the Orphan Drug Act, visit The National Institutes of Health at nih.gov.
• To learn more on Friedreich’s Ataxia Research Alliance, visit curefa.org.
• To learn more about adrenoleukodystrophy, visit aldfoundation.org.
• For more on Seth Wolhlberg’s efforts to find a cure for Rasmussen’s encephalitis, visit rechildrens.org. For more on Grace’s surgery, go to hemifoundation.org.