LAS CRUCES, N.M. (AP) – In 2007, when Las Crucen Othello Gamboa, now an eighth-grader at Las Cruces Catholic School, was 5 years old, he woke up to find that he had no feeling in his right leg and couldn’t move it.
At first, his father, Gabe Gamboa, thought he might be sore from karate the night before or that he was just not feeling well, but as the day progressed it seemed to get worse. His parents took Othello to his primary care doctor, who told them he should visit the University of New Mexico Children’s Hospital in Albuquerque. Othello and his family stayed at the hospital for about three weeks, until he was finally diagnosed with cerebral cavernous malformations (CCM), a rare brain blood vessel illness identified by cavernous malformations, or angiomas – vascular lesions comprised of clusters of abnormally dilated blood vessels. These lesions can be found in the brain, spinal cord and, rarely, in other areas of the body, like the skin and retina, according to the Angioma Alliance, a nonprofit dedicated to raising awareness of CCM.
Teams of doctors performed various tests on Othello, turning up no results, until they did an MRI scan of Othello’s back, revealing a blueberry-sized lesion on his spine. At first doctors misdiagnosed the lesion as a tumor, but Dr. Leslie Morrison, professor of neurology and pediatrics and vice chancellor for academic affairs at the UNM Health Sciences Center, recognized the lesion as CCM, according to Gamboa, who lives in Las Cruces with Othello, and Jennifer Morfin, Othello’s mother, who lives in Santa Fe.
“(The CCM lesion) had hemorrhaged, causing his inability to walk,” Gamboa said. “(Doctors) had to operate on his spine. He has a six-inch scar where they had to go in and remove that lesion.”
With CCM in the spine, doctors recommended conducting an MRI of Othello’s brain, where they discovered one other lesion, Morfin said. But doctors left it alone because it wasn’t causing any severe symptoms and because of the risks associated with operating on the brain.
After the lesion was removed from Othello’s spine and some physical therapy, Othello was able to walk again. While Othello’s parents knew that CCM had caused their son’s inability to move his right leg, they didn’t understand much about the illness.
“I remember being in the hospital and there being so little information about it,” Gamboa said.
They later found out that Othello carried a hereditary form of CCM. Genetic testing revealed that Othello’s mother, grandmother and other family members also carry the illness.
While many people may be unaware that CCM exists, New Mexico is the state with the largest population of families affected by the genetic form of CCM in the world. One hereditary form of the illness, CCM1, also known as the Common Hispanic Mutation, is particularly prevalent among the Hispanic population of New Mexico. The defective gene has been passed down through at least 14 generations, and the origin can be traced back to the earliest Spanish settlers in the late 1500s. In the northern part of New Mexico, one person in every 50 may be affected, compared to a national average of one in 600. Most are undiagnosed and the number of affected individuals is growing, according to an Angioma Alliance news release.
However, efforts are being made to bring awareness to the illness and advance research in finding a treatment and a cure.
While some people with CCM may never experience any symptoms of the illness, others experience headaches or neurological deficits including weakness in the arms or legs, problems with memory or balance or difficulties with vision or speech. The most severe symptoms caused by cavernous malformations are hemorrhagic stroke and seizures, and in rare cases, death. Whether an individual experiences symptoms and to what degree varies for each person and depends on the location of the lesion and its propensity to bleed, according to the National Organization for Rare Disorders.
“We think there are up to about half who inherit the mutation that may never develop any symptoms,” said Morrison, who is also on the Angioma Alliance Scientific Advisory Board.
Morfin said while she has been diagnosed with CCM, she doesn’t experience any symptoms associated with the illness.
“I made it to 27 and had no idea I had it and my children had it,” Morfin said. “That’s the concern – not so much me, but the kids and that it can continue to be passed down.”
Morfin said her younger daughter has also been diagnosed with CCM.
The CCM1 gene mutation does not skip generations and each child of an affected person has a 50/50 chance of inheriting the illness, according to the Angioma Alliance. Those who inherit the illness typically have multiple CCMs. Individuals with only one CCM and no affected relatives have the sporadic type, according to NORD.
While progress has been made in understanding the illness, there is still much to learn about CCM, Morrison said.
“Over the last 20 years, we’ve made a lot of progress in what we call the natural history – what happens with the disease in an untreated state,” she said. “We’ve also discovered now the three genes with mutations that can cause the disease, and we have a lot more information about risk of hemorrhage and whether someone will have a second hemorrhage. But we still don’t have a treatment other than neurosurgical removal.”
Morrison said researchers are trying to discover why some people may never develop symptoms and others have more severe problems even though they are part of the same family and how that knowledge could be used to develop specific treatment, allowing people to live healthy lives even if they have the mutation.
One thing researchers do know is that people with the illness, accumulate more lesions over time, Morrison said.
“Initially, we don’t always see them in young children, we’ve had a number of young patients in our study identified because of their family history that had zero lesions – about 6 out 300,” she said. “There is a time when you may have zero lesions, but some children present in the first year of life.”
Morrison said with so many CCM patients in New Mexico, it has become a public health issue and that bringing awareness to the illness is important.
“We want to make sure that patients have an early diagnosis to improve their chances of a good outcome and to prevent unnecessary medical procedures from being performed,” she said.
The Angioma Alliance has launched efforts to help the under-served Hispanic population at risk for CCM. As part of these efforts, Angioma Alliance volunteer Joyce Gonzales of Santa Fe, who has CCM herself, is using genealogical research to identify the descendants of Cristóbal Baca and Ana Maria Pacheco Ortiz, believed to be parents of the first individual affected with the Common Hispanic Mutation.
“We feel extremely confident at this point that we know where the illness came from,” said Gonzales, who was about 30 years old when she was diagnosed with CCM.
Gonzales said she inherited the illness from her mother, whose last name is Campos.
“If I go up seven generations, my seventh great grandfather, he was a Campos, but he married Maria Guadalupe Baca, and that’s where (the illness) came into the family,” she said.
New Mexico Community Engagement Specialist Nora Chavez, of Albuquerque, is also working with the Angioma Alliance to lead The Baca Family Historical Project, a campaign connecting the descendants of Cristóbal Baca and Ana Maria Pacheco Ortiz and any other families identified.
“The goal is to bring together families to create support groups,” Chavez said. “Pretty much every Spanish family who’s been here for at least 100 years will eventually go back to Baca.”
Chavez said they are trying to identify all members of the Baca family, not just those who have CCM.
“Not everyone who is related to the Baca family has CCM1 – the majority of them do not – but those who do, need to be informed about CCM1, so they can make an educated decision about their medical health,” she said. “Likewise, their family needs to be informed, so they can provide support for their family members who may have CCM.”
Chavez is facilitating connections through Facebook, in-person events, at community gatherings, and by interfacing with community leaders like clergy, non-profit administrators, and city officials in target cities, according to an Angioma Alliance news release.
“We don’t want to say it’s just one family that carries this because that’s not true,” she said. “We’re focusing on the Baca family because they are one of the largest families in the state of New Mexico. They have bred and multiplied throughout the state of New Mexico.”
Along with connecting families that may have CCM, the project also celebrates heritage and creates opportunities for extended families to meet and get to know each other, according to Chavez.
In addition to these efforts, a bill, supported by Angioma Alliance, called the Cerebral Cavernous Malformations Clinical Awareness, Research and Education (CCM-CARE) Act was introduced by New Mexico delegation in February to expand National Institute of Health research to increase awareness, treatment and prevention of CCM and support the development of tele-health infrastructure to reach rural, underserved communities, according to a news release.
Morrison said all patients handle the knowledge of having the disease differently, but that in some cases, it can result in feelings of stress, anxiety and depression.
Othello, who is now 14, said when he first found out he had CCM, he didn’t fully understand illness, but that over the years, he’s learned what symptoms to look out for.
While Othello hasn’t experienced any symptoms as severe as losing the mobility in his right leg 10 years ago, he does occasionally get migraines, which may be associated with the illness.
He also has some nerve damage in his right foot from the surgery.
“I can move my foot, but it slows down my reflexes,” Othello said. “Sometimes I have less feeling in my right foot.”
Morfin said she and Othello, as well as her mother, get MRIs each year and that they all participate in numerous CCM studies to help researchers learn more about the illness.
Gamboa said while he and his son look out for symptoms of the illness, they try not to let it get them down.
“We just live day by day,” Gamboa said. “We continue to just live in a positive light.”
Since Othello was diagnosed with CCM, he isn’t allowed to participate in contact sports, like soccer or basketball, because there is a chance he could get hit in the head, which could cause the lesion in his brain to hemorrhage. But this hasn’t stopped Othello from being an athlete.
“Othello is a heck of a golfer,” Gamboa said.
Othello said he is able to keep going a stay positive despite his illness with the help of his family and friends.
“During the surgery and during everything happening, pretty much everyone was there for me at that time – my family, my school, my relatives – they supported me the entire way through it, and they’re still there now, helping me push through and helping me not worry about it,” Othello said.
