In her 30 years of advocating for patients with rare diseases, Stamford resident Lesley Bennett has worked with families who have sought medical attention for their children, only to find themselves accused of a mental disorder – which was formerly known as Munchausen syndrome by proxy – in which people seek attention for themselves by caring for someone who they claim is ill.
“This is the thing that happens to us though,” Bennett said. “It is very difficult for us in the rare diseases community to get people to listen if they can’t look up these diseases.”
Bennett is one of several advocates, patients, and medical professionals lobbying the state to establish a Rare Disease Council, in an effort to put these diseases on a public website where the information can be accessed. The council would help build public awareness, education, and training, Bennett said.
The bill to establish the council, HB 5260, passed through the legislature’s Public Health Committee last month, and proponents are hopeful the matter will soon be voted on in the House of Representatives.
Bennett – who will soon be honored by the National Organization of Rare Disorders for her advocacy work – knows firsthand how difficult it is navigating a system where experts don’t have the information about a loved one’s medication condition. Her daughter Kelly suffered from a metabolic disorder. She passed away last year right before her 32nd birthday.
“They are uncomfortable dealing with someone they can’t put in a neat little box, and that’s very difficult for us. Most of our population doesn’t fit into a box,” Bennett said.
An established council will help provide residents a chance to advocate for themselves, as well as advise state officials as to how to meet their needs, state House Minority Leader Vincent J. Candelora said. The bill has 45 bipartisan cosponsors.
“Rare diseases only affect small populations. Unless it touches your life directly, there is really not a lot of advocacy and understanding of it,” Candelora said.
According to the National Organization for Rare Disorders (NORD), there are roughly 7,000 rare disorders, and an estimated one in 10 Americans lives with a rare disease. The rarity of a disorder means there’s a lack of research, leaving the patient with hefty medical costs and few answers.
Bennett said the more the government works with educational and research institutions, the more can be done to get patients effective treatment, thereby saving on hospitalization costs. “We make up 10 percent of the population, but we are one of the major drivers of healthcare costs,” she said. The majority of these 300,000 patients in the state dealing with a rare disease are children.
Dr. Emily Germain-Lee, chief of Pediatric Endocrinology and Diabetes and Director of the Center for Rare Bone Disorders at Connecticut Children’s in Hartford, recently testified before the legislature’s Public Health Committee in support of establishing the council.
“Patient voices and family experiences are critical to increasing our understanding of the issues facing this population,” Germain-Lee testified. “A Connecticut Rare Disease Council will help amplify the voices of those living with rare disorders, support research and treatments, and hopefully increase access to care.”
Avon resident David Leeds has been living with a rare disease since 2009, six years before he was officially diagnosed.
What he initially thought was allergic reactions were actually attacks resulting from Hereditary Angioedema, which causes swelling of his face, lips, and tongue, with the potential to restrict his airway. As one in 50,000 people who suffers from Hereditary Angioedema, Leeds said his symptoms – although they can be managed – have worsened since his diagnosis.
“It’s kind of been up and down,” Leeds said. “I’ve tried a lot of different medications and several different doctors as well.”
Going to the hospital is an anxiety-producing experience, Leeds said, because the likelihood is that the hospital staff will have no idea how to treat him.
While Leeds has found others who suffer from the same condition in Connecticut, others aren’t so lucky.
“Having a rare disease can be very lonely,” Leeds said.
The Rare Disease Council, whose membership would be appointed by the Governor and the legislature, would seek out public participation with hearings, and input on rare diseases from experts to form policy recommendations. The council would also oversee the development of education materials on rare diseases, and training for caregivers and health care providers.
State Rep. Jonathan Steinberg, the health committee’s co-chair, said the stories of people struggling with these diseases are heart wrenching.
“You can’t help but feel compelled to help as many people as we can,” Steinberg said.
While some living with a rare disease may say the diagnositc journey can be the biggest program, but Bennett said it is trying to find a physician who will make the time to work with the family.
“To me, it’s finding physicians who will work with you and listen,” Bennett said.