Three children. Three distinct diagnoses. One common dilemma.
Allie Barone, 11, of Clinton, feels better when she sees other kids with Chiari malformation, a structural defect that affects the brain’s cerebellum, at an annual fundraising walk.
“To see somebody else with a neck brace is like the coolest thing,” said her mother, Stephanie Marquez. Allie’s father, Robert Barone, lives in Rome.
The cervical collar relieves pressure on her brain stem and helps symptoms such as the severe headaches that started when Allie was a preschooler.
Layne Parks, 5, of North Norwich, never has been trick-or-treating and won’t head out for Halloween this year. For Layne, who has Prader-Willi syndrome, food can be the enemy. He’s always hungry, but only has half the metabolism of other children, putting him at risk for extreme obesity and dangerous overeating if his parents don’t carefully limit his food.
“When he was little, it was hard, and it’s hard to this day not to (give him more food),” said his mother, Linsey Barone. “You want to give him what he wants, but if we did, we’d be failing him. Me being strict is more beneficial to him than me giving in. That’s kind of how I get through it.” Layne’s father, Tadd Parks, lives in Clayville.
And a 2-year-old boy named Spencer of Massachusetts, grandson of Linda and Kirk Hinman of Lee, is a happy, affectionate toddler who was diagnosed Aug. 17 with Sanfilippo syndrome (also known as MPS III), a metabolic disorder that will, short of a medical breakthrough, kill him, most likely in his teens.
He had a few health problems, including 40 percent permanent hearing loss.
“Never in our wildest dreams did we ever imagine the issues he had would be attributable to a rare, progressive, fatal genetic disease,” Linda Hinman said.
Neither Layne nor Alli have conditions that normally prove fatal. But what the three children have in common is the rarity of their medical conditions and the special challenges posed by diseases and disorders that affect relatively few Americans.
Patients with these conditions often face a shortage of knowledgeable doctors, local support groups, a community that understands their condition and fewer research dollars at work on new treatments. Parents and other family members often turn into advocates, fundraisers and educators to help their own children and to help other families.
“There’s certainly additional challenges to having a rare disease and there are a lot of these diseases and they affect a lot of people when you put them all together,” said Mary Dunkle, vice president for education initiatives at the National Organization for Rare Disorders. “According to the National Institutes of Health, there are 7,000 diseases in the U.S. considered rare (with fewer than 200,000 patients). … These affect approximately 30 million Americans. … The challenges of living with these diseases are similar from one disease to another.”
“Every family feels like we do – helpless,” said Linda Hinman.
But the Hinmans have found a way to fight back, becoming vocal advocates for more research into rare diseases, which they believe is Spencer’s only hope. They back a bill known in the U.S. House of Representatives as the 21st Century Cures Act that would provide more funding for medical research, provide incentives for the development of rare disease treatments and expedite the federal Food and Drug Administration approval process for certain treatments. The bill passed the House in July 2015, but the Senate has yet to vote on similar legislation, which angers Linda Hinman.
“These children cannot wait,” she said. “Each day without a cure brings them a day closer to their death. Every single moment is precious. … Passing this legislation should be a priority of every single politician. It should be their duty, their passion to get their colleagues on board to pass the legislation.”
The federal government has recognized the plight of rare disease patients and has taken some actions to help them:
• The Orphan Drug Act of 1983 provides incentives to pharmaceutical companies that develop treatments for rare diseases. Without these incentives, it would be hard for the companies to recoup their research and development costs because of the low numbers of patients with any particular rare disease. So far, 532 drugs have been approved under this program.
• The federal National Institutes of Health established a clinic for undiagnosed disorders (many of which are rare) and then expanded to a national network.
• The NIH provided an estimated $3.8 billion for rare disease research in fiscal year 2016. (That compares to $5.7 billion got cancer research — $699 million just for breast cancer research — $1.3 billion for heart disease (the nation’s No. 1 killer) and $3.1 billion for HIV and AIDS.
“There’s a (funding) disadvantage (for rare diseases) unless a family is close to a politician and can get their attention, or a politician’s own family is affected with the rare disease,” said Dr. Edward McCabe, chief medical officer for the March of Dimes and a rare disease researcher. “And then we see that suddenly, there’s much more attention to it. Those are rare situations.”
For many rare diseases, though, patients and families have formed nonprofits to advocate for patients, educate health care providers and raise money for research. Layne’s family takes part in a walk in Sauquoit every year (his father lives in Clayville.).
“It’s amazing, but it’s kind of sad that we have to go out there and raise money,” his mother said.
“We understand that certainly the greatest portion of resources need to go to the disease affecting the most people,” Dunkle said. “But we also think that people with rare diseases shouldn’t be completely forgotten. I think the good news is that funding for research has been increasing over the years and much of the fundraising has been done by patients and patient organizations.”
Sen. Charles Schumer, D-N.Y., said he’s on board to help, explaining that he always has supported essential health and genetics research that can save lives. The Senate has several bills before it that would help, he said.
“There should never be debate when it comes to our children’s health, and it is my hope that my colleagues will come together and pass legislation that funds this terribly important research,” Schumer said.