‘It Will Consume Your Life’: 4 Families Take On Rare Diseases - The New York Times

Monica Coenraads, left, and her daughter, Chelsea Coenraads, who has Rett Syndrome, at their home in Trumbull, Conn., last year.Credit...Monica Jorge for The New York Times.

Chelsea, it turned out, had a rare genetic disease, Rett Syndrome.

It’s one of about 7,000 rare or orphan diseases — defined in the U.S.

Coenraads, 57, who lives in Trumbull, Conn., has encouraged research into Rett Syndrome where there had been none, providing hope for her daughter and the small number of people who live with the disease, and showing one way that a determined person can succeed against such odds.

When frantic parents of children with other rare disorders ask how she did it and what they can do, Ms.

She talks to every parent who calls, but, she said, “I always get off the phone thinking, ‘You don’t know what you’re up against.

Coenraads and three people who have succeeded in promoting research on uncommon diseases, but in very different ways.

The Coenraads had never heard of Rett Syndrome when they received that diagnosis for Chelsea, at age 2.

And because it is so rare — it affects only 1 in 10,000 girls and almost no boys — it seemed destined to languish as a research curiosity, not something companies would pursue.

“I just had to believe there was hope, and if we could get the right people involved with sufficient funding, we could move therapeutics forward,” she said.

Coenraads knew she needed money to attract scientists, so she started the Rett Syndrome Research Trust in 2007.

Coenraads said.

“I wasn’t going to sit back and assume research was happening and things would work out,” she said.

She began by looking for scientists who knew about Rett and calling them.

If that weren’t daunting enough, she said, “you have to learn the basics of drug development and how to recruit scientists and companies to work on your disease.” And she cautioned that with academic researchers, “you have to recognize when a project sure is interesting but isn’t necessarily going to move the needle closer to a cure.”.

Once she had gathered enough academic research, she was able to “hit the ground running,” she said, contacting companies and telling them what they wanted to hear: Yes, there was a mouse model of the disease.

Yes, there were so-called natural history studies that illustrate what to expect if the disease was not treated.

Then Avexis was bought by Novartis, which has said it hopes to do the trial after more preliminary work.

Coenraads said, with, “a beautiful and engaging personality.”.

Coenraads said.

Most seeking a cure for a rare genetic disease hope to recruit scientists and companies to do the work.

Her mother died the year before, at age 52, from Gerstmann-Sträussler-Scheinker syndrome, a degenerative and uniformly fatal brain disease caused by misfolded prion proteins.

Vallabh took a genetic test that gave her the bad news that she was going to develop G.S.S., and probably around the same age as her mother.

Vallabh had just started work at a small consulting company, and her husband, now 36, had recently gotten a degree in urban planning from M.I.T.

Vallabh said.

“I didn’t want to call people and have them say, ‘Oh yeah, we’re working on a cure.

Drugs based on the molecules work in other genetic disorders; they enter the brain by being injected into the spinal fluid, and appear to be safe.

Vallabh learned from the meeting that the rules are different for rare diseases.

But with rare diseases, “the burden shifts,” she said.

Vallabh said.

The aim was to see if those with the gene have subtle markers of disease progression.

“I know, I know,” Dr.

Vallabh said.

Every disease has its own landscape.”.

It is almost, but not quite, unheard-of for people with a rare disease mutation to do their own research, Dr.

Vallabh said.

People like her, “are rare, but not an n of 1,” she adds.

Neena Nizar, 42, grew up in Dubai knowing something was wrong with her, but unable to find out what.

She eventually learned the diagnosis: Jansen’s metaphyseal chondrodysplasia, a genetic disease so rare only about 30 cases have been reported since it was first described in 1970.

Most didn’t know what their condition was.

Nizar set up a foundation to support research.

Nizar spoke to experts at conferences hosted by the National Institutes of Health, hoping to find a way to receive research funds.

Nizar said, she will be faced with a new set of problems.

Nizar said.

Matt Wilsey knew a lot about what it takes for a company to succeed.

When Grace Wilsey was born in 2009, Mr.

Wilsey and his wife, Kristen, now 39, knew right away she had some problems.

Wilsey found out why — Grace had a genetic disorder so rare only one other child in the world, a little boy in Utah, was known to have it.

They didn’t know how the disease would progress or if Grace would die young.

Having money is great, they said, but you have to know whom and what to spend it on.

Wilsey managed to recruit about 150 eminent scientists as advisers, with some actively working on the research problem.

“Many of the people we work with don’t even receive funding from us,” he said

The “magic sauce,” he said, is “hard work, time and constant relationship building.”

Wilsey said Grace’s doctors told him his daughter probably is at the level of an 18 month old

Wilsey knows the disease seems to accelerate once children hit puberty, with an increase in seizures and greater risk of aspiration and choking, as well as more sleep disturbances

Wilsey said