Congressional delegation aims to fight rare genetic disease prevalent among Hispanics

One of the things I like about occasionally covering the state's Congressional delegation is looking at the issues Congress deals with that transcend politics.

After I got a press release recently on a move by all five members to fund a center in the Southwest to study Cerebral Cavernous Malformations, I started to learn about the rare disease, which is disproportionately prevalent in New Mexico Hispanics. Here are some of the people I met along the way.

Bobbi and Henry Gallegos were startled when their oldest son, Greg, began having seizures while he was a junior at St. Michael's High School.

They were even more surprised when he first was diagnosed with epilepsy, and later with a rare genetic disease that causes brain and spinal cord lesions.

When the couple's youngest daughter started having seizures four years ago, they were amazed when she, too, was diagnosed with cerebral cavernous malformation, sometimes known as cavernous angiomas.

As extreme as the Gallegos' case seems -- another son has the gene for the disease but no symptoms, and one of their grandsons has had seizures as well -- it's almost a textbook case of one form of the illness that runs in Hispanic families who can trace their ancestry back to Spanish explorers.

People with the disease have capillaries in the brain that are irregularly shaped and have walls that are thinner than usual. Because they are not correctly formed, the capillaries are prone to bleeding.

The symptoms can mimic strokes and include headaches, seizures, vision or hearing trouble and cerebral hemorrhages.

Not everyone with the disease has symptoms, and not all doctors are familiar with the ailment.

"We didn't know anything about it," Bobbi Gallegos said. In her oldest son's case, "nobody ever said anything to us."

It was through research that Greg started to believe he had CCM.

When their daughter Paula was diagnosed as well, the Gallegos family, with five children, weren't sure what to think.

"Now we had two children with it," Bobbi Gallegos said. "At first it was very frightening because we just didn't know about the other children."

Two other children in the family have been tested, while one has decided against being checked for the malady.

There were others in the family, too, who likely had the disease but weren't correctly diagnosed, the couple said. Henry Gallegos' mom back in the 1960s had what doctors described as aneurysms. More recently, a cousin had a brain tumor, doctors said. But Bobbi Gallegos is urging his family to look into the possibility the cousin also has the disease.

The familial connection is a hallmark of one version of the disease, which has three variants.

New Mexico has the highest density of CCM cases in the world, said Leslie Morrison, a pediatric neurologist in the Department of Neurology at the University of New Mexico's School of Medicine.

The familial, or genetic version of the illness disproportionately affects Hispanics who researchers believe have passed the gene down from Spanish explorers who arrived here before 1600. A vast majority of the world's cases of that form are in and around New Mexico.

Possibly tens of thousands of patients have suffered from the disease in the state alone, Morrison said.

More have been stricken by the different forms of the disease across the world, numbering into the millions by some estimates.

Outside New Mexico, the disease is more rare in its genetic form, affecting between one in 200 and one in 700 people.

The number of patients with the disease being followed at UNM currently is more than 400, and Morrison is directing a study that is seeking 500 patients who have been diagnosed with the common Hispanic mutation of CCM1.

The study will follow the disease's natural progression, keeping track of the number of lesions in a patient's brain using MRIs over several years. The study aims to figure out why some people in the same family get more mild forms of the disease that present few or no symptoms, while others have severe lesions that can be more dangerous. Children of parents with the disease have a 50 percent chance of inheriting it.

Morrison also is working on a pilot project of other patients who use cholesterol-lowering statins to treat the disease. She also will study some patients with skin lesions caused by the disease.

As she goes about her work at UNM, members of the state's Congressional delegation are working on a measure that would create an education and care center for the disease. All five members support it. Sen. Tom Udall said he hopes the center would be at UNM.

"It would be a model for caring for patients around the United States," Morrison said. "It will help us learn the best clinical practices for patients and provide more information for this relatively common disease. Other countries may want to emulate such care centers."

The measure would allocate $2 million for a center and is currently pending in the Senate Health, Education, Labor and Pensions Committee.

Udall in 2008 carried a resolution to raise awareness about the disease, which lawmakers approved in 2009.

The current measure doesn't specify where the center will be, but Udall said UNM makes sense.

"The sad reality is that this disease is difficult to diagnose and today we have no cure. We need more research and a facility dedicated to giving patients the best care possible," Udall said in a statement.

"With a high population of patients with cavernous angioma and an excellent care facility at UNM, New Mexico is the clear choice for a care center like this."

One CCM1 patient at UNM is Candelaria Romero, whose father and uncle also were diagnosed with the disease, as were seven of her uncle's eight children.

Romero doesn't have the seizures or convulsions that are common among those with the disease. Instead, she has brain bleeding and migraines that can leave her exhausted.

She had her first brain surgery when she was 27, after a day in 1992 when she felt like she had a head cold.

She went into work but turned around and headed back home after she was feeling nauseous. At her house, she noticed her face felt tingly. She thought she had pinched a nerve in her neck but called a nurse anyway. The nurse told her to go to the hospital because she might be having a stroke.

"I said, 'I'm 27, I'm very healthy, I'm not having a stroke,' " Romero said.

By the time she got to the emergency room, the bleeding in Romero's brain was so intense she could barely walk. A young boy at the hospital and his mother mistook her for someone who was drunk. "I just staggered in," she said.

Romero was able to recuperate from the surgery, eventually going back to work. She started driving again and even returned to running. She felt "very, very normal."

By 2006, though, the bleeding was back and in 2008 she required another surgery. Since then, she has been partially paralyzed and has undergone procedures on her vocal chords to talk normally again.

Despite the setbacks and the challenges, Romero, who is part of the research study at UNM, said her life has some kind of normalcy.

"I eat, I talk, I work full time and go to school part time, I have two sons, I go to the gym and work out ... it's not going to slow me down."

She said she hopes money for more research is approved, so that those who have suffered can better understand why some with the gene have symptoms and others don't.

"I want answers and I'm sure other people want answers," she said. "I want a cure."

Along with treatment for the disease, there is support. Patients can get in touch over the Internet with others who also have the disease, said Amy Akers, chief scientific officer at the Angioma Alliance, a national group that encourages education and research.

"People just want to talk to others who have been through this," she said.

The group works to connect people in the same geographic location, if possible.

The quality of life for patients varies greatly, Akers said. Some people with the disease lead a symptom-free life, while others are greatly disabled -- something that intrigues researchers like Akers.

Greg Gallegos said having CCM has been tough on him, but he has been able to stay active, playing tennis and basketball and keeping up with home maintenance, something he thinks is key to warding off more seizures and staying healthy.

When he's more active in the summer, he said he has fewer seizures than in the winter months when he is indoors more.

Despite taking medication daily for his seizures, he averages between 10 and 12 episodes a year.

Having lived with the disease for 33 years, Gallegos said he has learned a lot about it -- and hopes more research can be done.

In his case, it took almost 20 years to correctly diagnose him, after doctors at first told him he had epilepsy.

"At that time it was still being misdiagnosed," he said. "They thought people who had seizures had epilepsy."