Family, pals fundraise for ROHHAD research

A handful of friends are seated around a kitchen table in Bayport -- the ones who've rallied around 5-year-old Marisa Carney and her parents in the past year.

They're planning their most ambitious fundraiser yet. Money from the event -- a fun run next fall -- would go toward research into Marisa's rare brain disorder.

The disorder strikes children, triggering rapid obesity and life-threatening breathing problems.

"I want to see the road packed, just like the marathon," says Suzanne Ahearn, the small group's treasurer.

It's a cool fall evening filled with promise. Marisa, tethered to the portable breathing machine she can't live without, is in the next room, offering her father a different kind of hope.

The TV is on in the Carney home, but she's more interested in chatting about how much she loves kindergarten gym class.

In nine months, through 15 different grassroots events and lots of small donations, Marisa's parents, Bill and Danielle Carney, and their closest friends have raised $220,000.

The Marisa Carney Research Fund has been launched, but there are nagging doubts: Can she be saved? Can a cure be found?

When it comes to the disorder known as ROHHAD, the biggest questions have no answers.

There have been 75 confirmed cases worldwide, putting the disorder in the category of "orphan diseases" that afflict too few to attract research dollars. The odds of landing a major grant -- often the precursor to a scientific breakthrough -- are long, but experts say the Carneys have some advantages.

Researchers in Chicago -- the same specialists who are testing and treating Marisa -- have assembled a cohort of dozens of ROHHAD patients and collected their DNA for analysis. Boston scientists recently began their own genetic study, starting with six children with the disorder.

"It's hard to think about the future and whether finding a gene will even matter for her," Bill Carney, a 43-year-old golf pro, says of his daughter. "But I can tell you that no breakthrough can come fast enough for us."

ROHHAD is linked to a major public health concern -- obesity, affecting one out of five children in the United States. The potential for a broader benefit is a key factor in determining whether research merits government or major philanthropic backing, experts say.

"This isn't just about Marisa anymore," says Danielle Carney, 42, a labor lawyer. "It's so much bigger than one little girl on Long Island." 

'Super rare' diseases

By definition, a rare disease afflicts fewer than 200,000 people worldwide. Those known to strike fewer than 100 are called "super rare."

They're seldom on priority lists when government agencies and academic institutions dole out research funds.

"That's why they're called orphan diseases -- nobody wants to adopt them," says Dr. Sami Said, a pulmonologist and distinguished professor at Stony Brook University Medical Center.

For more than a decade, Said has chaired the medical advisory board of the National Organization for Rare Disorders, a private nonprofit that advocates for the estimated 3 million people suffering from rare diseases.

NORD also acts as a clearinghouse for research dollars, funneling money donated by patient and family groups to scientists.

"Some of them are from very well-to-do places and they are applying for our small grants," Said says, rattling off some of the prestigious names: the University of Pennsylvania, Stanford, Johns Hopkins. "That shows you how underfunded that kind of research is."

Last year, the organization gave $240,000 to six research teams studying five different rare diseases. The money is intended to kick-start research in order to qualify for a major grant, such as those offered by the National Institutes of Health.

NIH has a $30 billion annual budget for medical research, but only a fraction of that goes toward the more than 7,000 rare diseases and disorders identified by the government. Last year, the agency set aside $610 million for research into drug therapies to treat rare diseases.

The odds would be stacked against expanded ROHHAD research if not for a strong link to obesity, experts say.

NIH last year spent almost $1 billion on obesity research, as the White House champions a national campaign to curb overeating.

When the federal government weighs grant requests, the potential benefits of the research and how it could lead to broader discoveries are important considerations, said Stephen Groft, director of NIH's Office of Rare Disease Research in Bethesda, Md.

Also vital: strong support outside the medical community. 

A similar path

A specialized center at Children's Memorial Hospital in Chicago is home to the foremost experts on ROHHAD, led by Dr. Debra Weese-Mayer.

There were fewer than 15 documented ROHHAD cases before July 2007, when Weese-Mayer and colleagues published a study that named the disorder -- Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation -- in the journal Pediatrics.

In three years, they tracked 60 more cases. This year, the researchers received $50,000 from the Carneys.

"There are more of these children out there and we will learn from these children just as much as they learn from us," Weese-Mayer says.

A rival study is also under way. In December, doctors at Children's Hospital Boston and Harvard scientists started collecting DNA from their own group of ROHHAD patients. The research is backed by the hospital's new $25 million Manton Center for Orphan Diseases.

Another trend favoring rare-disease research is greater interest among pharmaceutical and biotech companies, spurred by federal tax credits and a lengthening of exclusive marketing rights.

More than 400 medicines are in development to treat or prevent rare diseases, compared with fewer than 10 in the 1970s, according to Pharmaceutical Research and Manufacturers of America.

Major drugmakers such as GlaxoSmithKline and Pfizer have opened rare-disease research centers.

Dr. Philippe Monteyne, who heads GSK's 17-month-old orphan drug unit, says rapid advances in the science of genetics have made it easier to develop effective treatments, since most rare diseases are caused by genetic mutations. That means a quicker return on investment for the industry.

"There is a real opportunity now to do something for these patients that wasn't possible before," Monteyne says.

'Children are dying'

The potential for a breakthrough keeps driving Bill and Danielle Carney.

Fundraisers to date have been grassroots, ranging from local bowling events to modest golf tournaments. With less success, Danielle has also been working the phone and mailing out packets, trying to persuade wealthy Long Islanders and philanthropic organizations to donate.

"Children are dying before we can get to them," Danielle says. "How many children need to struggle like Marisa to get some attention?"

About ROHHAD

Marisa Carney suffers from Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation, or ROHHAD. The little-understood childhood brain disorder is extremely rare, with 75 documented cases worldwide.

Marisa was born healthy. At the age of 4, she suddenly began gaining weight uncontrollably. She also developed severe breathing problems that could cause seizures or cardiac arrest, forcing her to rely on a ventilator.

The disorder strikes the hypothalamus, which regulates the activities of the autonomic nervous system, including breathing, body temperature and digestion.

Marisa's condition is currently stable, allowing the 5-year-old to enjoy kindergarten, dance classes and playtime with friends.

About this series

To chronicle Marisa's struggle, Newsday reporter Candice Ferrette and photographer Alejandra Villa have followed the Carney family since March. The first installment -- "Marisa: A Little Girl's Fight to Live" -- was published June 19. The second -- "Marisa on her toes in kindergarten" -- was published Sept. 25.