A Good Life for Will Martin
If you search the internet for Leigh’s disease, or Leigh syndrome (LS), you’ll still find many websites that say that children born with LS die by the age of 2. Patients treated through the Leigh Syndrome Program at McGovern Medical School at UTHealth Houston and Children’s Memorial Hermann Hospital live much longer.
“The average age of the children we treat is now over 10,” says Mary Kay Koenig, MD, professor and Endowed Chair of Mitochondrial Medicine, director of the Center for the Treatment of Pediatric Neurodegenerative Diseases, and research director of the Division of Child and Adolescent Neurology in the Department of Pediatrics at McGovern Medical School at UTHealth Houston.
“Thanks to our research and participation in a collaborative international group of experts working to map the natural history of Leigh syndrome, we know more about the disease than ever. We’ve learned that these children typically die during a febrile illness, such as the flu, and we have found ways to support them successfully through their typical childhood illnesses.”
Will Martin, who exceeded all LS longevity expectations when he celebrated his 13th birthday in April, came to Koenig at the age of 20 months, after his mother, Lori Martin, became concerned that he might be developmentally delayed. “He had just started walking and seemed weaker than most kids. He was the Martins’ first child, so they had no previous experience for comparison,” Koenig says. “His mom was trying very hard to convince me that he could walk, but I thought, ‘There’s no way – he’s too weak.’ But he stood up and walked across the room and he did it by will alone. He has proven over the years that he can do anything he wants to do. He’s one of the most determined people I’ve ever met.”
His mother agrees. “If Will sets his mind to something, he gives it his best shot,” she says. Koenig ordered an MRI scan that revealed changes in Will’s brain consistent with Leigh syndrome, followed by genetic testing. “I talked with his parents about the results and told them I was very concerned,” she says. “They are very intelligent people, had read about LS, and were absolutely devastated. The results of that MRI began a long journey we’ve continued for 11 years, working together to take care of Will.” Will is seen at UT Physicians Pediatric Specialists – Texas Medical Center.
Leigh syndrome is rare, found in only 1 in 40,000 births, and considered a terminal disease. A genetic neurometabolic disorder, LS causes deterioration of the central nervous system, including the brain, spinal cord, and optic nerve. Early symptoms in infants may include poor sucking ability, loss of head control and motor skills, loss of appetite, vomiting, and seizures.
Leigh syndrome causes progressive degeneration of the midline structures of the brain, resulting in acute, life-threatening neurologic decompensations during fever. Even during periods of health, damage continues to occur in the brain, for the most part in the basal ganglia, which controls movement.
“Will’s main problem has been balance, which is very poor and causes him to fall easily,” Koenig says. “But other children have a progression of different movement disorders. Some have dystonia, and others have symptoms similar to Parkinson’s disease.”
Koenig is one of the few physicians in the world who runs a Leigh Syndrome Program with a complete care team that encompasses specialists at the UT Physicians Clinic and the emergency center at Children’s Memorial Hermann Hospital, the only Level 1 Pediatric Trauma Center for children in the Texas Gulf Coast region. It is the only dedicated LS program in the country, and one of the largest
LS programs in the world.
“It’s rare to walk into an emergency room staffed by people who know what Leigh syndrome is and how to treat it,” Martin says. “Dr. Koenig has done the education, and the doctors, nurses, and other health care professionals she has trained over the years keep Will alive.
“When he was first diagnosed, it was a crushing blow to our whole world,” she says. “Over the years, we have tried to find the best care team for him – physicians, nurses, therapists, researchers. When he gets sick, he goes to Children’s Memorial Hermann. We live by that hospital, and there is no doubt in my mind or in my husband Neil’s
mind that the team there is keeping him alive. Dr. Koenig gets the credit for it, but it goes way beyond her. These kids come to the emergency center and everyone knows exactly what to do. She taught them, but she doesn’t teach them every day, and it’s the everyday care that counts.” And it’s not just Will. The trauma center
team has treated 85 kids the from Leigh Syndrome Program.
In 2013, after Will was diagnosed with LS, the Martins, their family and other supporters started People Against Leigh Syndrome
(PALS). “In addition to getting the right people in the treatment room, we wanted to use our story to create more awareness among other families dealing with the same thing, as well as educate the general public about LS and how it is closely linked to Parkinson’s disease,” Martin says. “When my mother was in her mother’s uterus, she had a de novo mutation of the mitochondrial DNA that caused Leigh syndrome. She unknowingly passed it to my sisters and me. Her own mutation presented as Parkinson’s disease while I was pregnant with Will.”
PALS has built awareness of the disease and raised funds to support the medical community in the quest to develop viable treatments and hopefully, a cure. To date, the nonprofit organization has raised nearly $750,000 to support projects like TRiaLS: The International Registry for Leigh Syndrome, a secure database managed by the UTHealth Houston Mitochondrial
Center of Excellence led by Koenig, enabling qualified researchers and clinicians to connect with patients for International Review Board approved research projects and clinical trials.
In addition, PALS has partnered with four of the world’s leading mitochondrial disease patient advocacy groups to form and fund an international Leigh Syndrome Research Network at www.leighsyndrome.org. PALS, along with U.S.-based United Mitochondrial Disease Foundation, Australia-based Mito Foundation, the Lily Foundation of the United Kingdom, and Mitocon of Italy, have pledged $1 million to support this innovative multiyear project to fund research with a focus on improving diagnosis, therapeutic development and optimized patient care for people with Leigh syndrome.
“We’re all working together to develop a better understanding of the natural history of LS,” says Koenig, who has served as the PALS medical advisor since the organization was founded.
“Generally, patients are not given a treatment plan because there’s no known treatment and no cure. Nothing we’ve ever studied has been proven to work. Because it’s a rare disease, it’s very hard to get a large enough population to conduct clinical trials. LS also is variable. We currently know of more than 100 different genetic changes that can cause the disease. Each one has a different twist, so technically, each child has a different disease. Now that we’ve learned that we can keep these children alive, the natural history from this study will help us understand how we’re succeeding. Are we doing the same things in Europe, Australia, and the U.S.? Does natural history depend on the mutation? The Martins’ funding of the international registry through PALS helps us collect this information as we work toward a better understanding of the disease. Through its work, PALS has become one of the most recognized and powerful LS groups in the world.”
Will has participated in a clinical trial of vatiquinone, a medication that supports mitochondrial function, since the age of 2. Koenig is the UTHealth Houston site investigator for the trial, called EPI743 for Metabolism or Mitochondrial Disorders.
“When Will started the trial, we had a lot of different issues to sort out,” Martin says. “He wasn’t verbal but now he can read and write. He walked kind of pigeon-toed and on the trial, his feet corrected themselves. He had constipation issues, and now has regular bowel movements. We know of two other kids with LS who have seizures, but Will doesn’t. He attends school and volunteers with a social club. We work really hard to make sure he has the same opportunities his sister has and does as much as he can.”
On Will’s treatment team is Susan Pacheco, MD, professor of pulmonary medicine and allergy and immunology at McGovern Medical School, who started him on subcutaneous immune globulin, a medication used to treat primary immune deficiency and chronic inflammatory demyelinating polyneuropathy. “This drug has changed his quality of life,” Martin says.
“We do a home infusion every week that helps keep his immune system functioning. The healthier you can keep kids with Leigh syndrome, the better it is. All these things and the rapid response we get from the entire team at Children’s Memorial Hermann Hospital have helped him be successful. “How will my child die?” she asks. “A doctor can give you a theoretical best guess but there’s now far-reaching data showing that 90% of children with LS die of respiratory failure. Any time we have a little bit of vomit or low-grade fever, we go to the hospital to give his body as much
support as we can. Always.”
Koenig joined the faculty at McGovern Medical School in 2007 and says that knowledge about LS has grown astronomically since then.
“The Martins have done wonderful things to help Will live a good life,” she says. “They have minimized his illness as much as possible so that he can be as healthy as possible, and that’s hard to do. Every ounce of determination Will has came from his mother and father. It has served the family well.”
For more information about the UTHealth Houston Mitochondrial Center of Excellence or the Leigh Syndrome Program, please visit ctpnd.org or call (713) 500-7164.
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