A Connecticut nonprofit group that works to support and help patients who are going through rare and often debilitating conditions is seeing an increase in requests for help.
The National Organization for Rare Disorders (NORD) says it gets 69,000 calls and 65,000 emails a year – from people both in the U.S. and overseas.
"Outside the United States, there are individuals who will reach out to us who are coming to the United States on a medical visa," said Jill Pollander, vice president of patient services at NORD.
NORD has reported that there has been a steady increase of applicants over the past eight years, and 4,500 patients are on a waiting list for financial assistance from the group. This means that many patients are left to struggle on their own, with limited resources and support.
"A lot of our patients go through what's called a diagnostic odyssey, and that's truly what it is. It takes on average about five to seven years for a lot of these patients to get an accurate diagnosis," said Heidi Ross, vice president of policy and regulatory affairs. "And that takes an enormous toll on an individual financially, physically but also mentally."
That is the case of Rafael Azevedo. For the past 10 years, he has been suffering from two rare and debilitating conditions, tympanic plexus neuralgia and intermediate neuralgia. These conditions caused a constant buzzing in his ears, which is painful and makes it impossible for him to get enough sleep.
It’s taken a toll on him and the family, said Luana Diniz, his wife.
"He cannot be alone anymore,” she said. “He tried to take his life many times. I hope that people can help my husband to survive."
Azevedo, from Brazil, is on a temporary visa as he seeks medical treatment in the U.S.
The family hopes to have the surgery at UConn Health. Family members say surgery is expected to cost $75,000, which they can’t afford.
In a statement, UConn Health says as a state agency, it’s not able to cover the cost and is not aware of funds to cover the cost of the surgery in Connecticut. UConn Health says its surgeons want to help Azevedo and have offered to travel to Brazil to help doctors there perform the procedure.
The family has launched a GoFundMe campaign to raise money.
"The hospital has given a discount, but even paying the remainder is very expensive for us,” said Barbara Prado, Azevedo’s sister. "We need every heart. We need the people's help so that Rafael's life is saved."
Meanwhile, there are efforts in Connecticut and elsewhere to raise awareness for people who have rare diseases.
Last year, Connecticut formed a Rare Disease Advisory Council, a group dedicated to supporting and advocating for those affected by these conditions. Several other states across the country have either formed or are in the process of forming these groups.
One of the main issues that advocates are working to address is the high cost of treatment for rare diseases, including prescription drugs.
The U.S. Government Accountability Office cites one study that estimates rare diseases cost Americans nearly $1 trillion – from drugs and doctor visits to a loss of income.
The Orphan Drug Act, which was signed into law in 1983 to provide incentives for pharmaceutical companies to develop treatments for rare diseases, has been a primary focus. NORD says of 7,000 known rare diseases, fewer than 10% have a treatment plan – “and even fewer have cures.”
