Joachim Boekelmann works as an attorney in Princeton, New Jersey, where he lives with his wife and two children.
He loves to travel internationally, try new food, watch soccer, and enjoys the model railroad setup that he built in his house. But if you were to meet the 52-year-old in person, you’d quickly notice that something is off.
Boekelmann can walk, but at a slow pace. He needs to use two hands to pick up a cup, and lifting utensils from a table is often a struggle.
The cause of these symptoms is a rare disease, myotonic dystrophy type 1, which causes muscles to weaken. And he knows all too well what the disease can do over time. Boekelmann watched his father struggle with the disease, slowly getting worse until he died at 75 years old.
“At that time he was in really bad shape, he couldn’t really do anything on his own anymore,” he said. “It is pretty scary.”
Boekelmann first noticed symptoms of the disease in his early thirties, but over time they have gotten progressively more disruptive. Now, he needs help getting dressed in the morning.
“I don’t know what my disease will look like a year from now,” he said. “It will be worse, but I don’t even know what that means.”
Boekelmann on Saturday will be in Boston to speak to employees at Waltham-based Dyne Therapeutics Inc., which is working on a treatment for his condition. It’s part of an event celebrating Rare Disease Day, which falls on Feb. 29, something of a rare day itself.
Dyne is one of several local biotech companies that have been hosting events all month, from fitness contests to documentary screenings, to mark Rare Disease Day. Many will participate in a larger program hosted by the Massachusetts Biotechnology Council on Saturday.
Several companies regularly invite patients with rare diseases to their offices, said Fernanda Copeland, Cambridge-based Avrobio Inc.'s head of global patient advocacy and engagement. She said it helps to connect them with the scientists working to cure their disease.
“The patients are a huge inspiration for us,” Copeland said.
Avrobio’s work involves lysosomal disorders, a group of inherited metabolic conditions. It is focusing on developing treatments for several of the diseases in that group.
There are as many as 7,000 rare diseases in the US, according to federal data, but collectively they are not as rare as the name suggests. A rare disease is generally defined as one that affects 200,000 or fewer people. It’s estimated that more than 25 million Americans have such an affliction — or roughly one in 10.
Those living with rare diseases often struggle with acceptance because their condition is not familiar to others.
“People might say, 'Oh, he kind of talks funny,’ or 'his hand grip is not that strong,’ but they don’t know what to make of it," Boekelmann said. “You don’t even want to tell people what you have because they don’t understand what you have anyhow.”
He said any effort to bring awareness to rare diseases makes a difference. Often, Rare Disease Day events take place year round.
As Dyne Therapeutics CEO Joshua Brumm put it, "Every day for a rare disease company is Rare Disease Day.”
“We know [patients] really depend on us to help find a solution for the problems they are facing,” said Mark Rothera CEO of Orchard Therapeutics, which has an office in Boston. “There is a huge sense of mission and responsibility that we have.”
Orchard is working on treatments for rare diseases that affect brain function and metabolism, immune deficiencies, and blood disorders.
Because the patient population is small for each disease, when a medication is approved, it often comes to market at a steep price — hundreds of thousands of dollars a year per patient is not unusual.
“When one of your close friends or family members is touched by a rare disease, the disease is not rare anymore,” said Fred Chereau, CEO of LogicBio Therapeutics Inc. in Cambridge, which is working on a treatment for children with rare liver disorders.
Boekelmann’s two children have decided not to get tested for myotonic dystrophy type 1, but he takes comfort in the fact that companies are working on a treatment.
“When we see that Dyne and other companies are working on this, and hopefully getting close to something that might work, that gives me hope every day,” he said.