WARRENSBURG | When the Compassionate Care Act was signed into law in New York in 2014, Catherine LaFond-Evans was hopeful medical marijuana could ease some of her daughter's pain caused by mitochondrial disease.
But the disease was not included among a list of 10 debilitating or life-threatening conditions that qualify patients for the program that was rolled out Jan. 7. Being overlooked and misunderstood is a familiar fight for those with the complex genetic disease that wages war on a cellular level and has no known cure.
"It wasn't until the mid-1990s that a handful of doctors first started recognizing, diagnosing and caring for mito patients. That's why we're so far behind as far as recognition of mito for what it is," said LaFond-Evans, who also has a form of the disease.
According to the United Mitochondria Disease Foundation, each year 1,000 to 4,000 children in the U.S. are born with a mitochondrial disease, and its frequency is approaching that of childhood cancers.
Mitochondria are specialized compartments within the cells of the body, except red blood cells. They are responsible for creating 90 percent of the energy needed by the body. If the mitochondria fail, less energy is generated in the cell, which can wreak havoc on whole systems of the body and cells of major organs.
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Symptoms differ as the genetic disease takes its toll, and new conditions caused by it can present at any time, LaFond-Evans said.
For her daughter, 32-year-old Brooke, who can stay awake only a handful of a day's 24 hours, some symptoms include severe nausea, severe pains, muscle weakness , muscle spasms, neuropathies, dysautonomia, which affects the nervous system, and significant loss of gastrointestinal function. Many of her symptoms are among the complicating conditions that qualify patients in New York for medical marijuana who are suffering form one of the 10 recognized diseases.
"If she's lucky, she'll have one or two, and they'll be under control. When she's not lucky, she'll have all seven of them acting up or two or three to a severe degree. That's the way it is with mitochondrial disease. Just when you think you know and have everything under control, something new can pop up," LaFond-Evans said.
She takes about two-dozen medications a day. They don't know if medical marijuana will prove better for managing her pain and severe nausea, but they'd like the freedom to try it. For severe nausea, she takes Marinol, a pill with the same active ingredient found in marijuana which has been "extremely beneficial," LaFond-Evans said.
Dr. Darius Adams, a director at the Goryeb Children's Hospital in New Jersey, is Brooke's primary care doctor and mitochondrial specialist, and is willing to take the New York course to become certified to prescribe it, LaFond-Evans said.
According to the Department of Health website, 292 doctors are ow registered in the program and 409 patents have been certified by their doctors.
"Brooke has been prescribed this (Marinol) for several years now and it has helped her, I’m not sure there will be any additional benefit by taking it in a different preparation," Adams said.
"We don't know if its going to help any further than the medicines Brooke is already on," LaFond-Evans said, speaking of medical marijuana. "But we want to be able to try it."
Georgia lawmakers last year passed medical marijuana legislation, which listed mitochondrial diseases among the eight eligible diseases in that state.
Dr. Fran Kendall, a mitochondrial disease specialist, provided a podcast on the subject of cannabis and mitochondrial disease for www.mitoaction.com.
Because Georgia was the first to make it available, much of the information on its effectiveness is anecdotal, she said.
"What parents are reporting, and other people are reporting is that it appears to improve seizure control. Pain relief is also demonstrated by many patients, and improved GI (gastrointestinal) functionality," Kendall stated in her presentation.
A study in Germany that used rats as models found that medical marijuana activated the brain’s cannabinoid system, which caused the release of cleansing antioxidants and removal of damaged cells in the brain thereby improving the efficiency of mitochondria.
LaFond-Evans said she has written to Gov. Andrew Cuomo's office and sent pleas to Department of Health Commissioner Howard Zucker, the official who can add diseases to the list. According to the DOH website, he is currently reviewing adding Alzheimer's disease, muscular dystrophy, dystonia, post traumatic stress disorder and rheumatoid arthritis.
LaFond-Evans said she hasn't heard anything back from the Department of Health. Officials with the press office said they would look into an inquiry from The Post-Star but did not respond by Friday.
She said she watched her oldest daughter, Randi, suffer before she died at age 28 in 2010 from the debilitating disease. It took nearly two decades to get a diagnosis for her daughters, as they were both in their late teens before they had one. Testing isn't always accurate, and not all physicians are versed in the complex disease, which complicates diagnoses.
"I refuse to watch another child of mine suffer needlessly when there is a drug that may mitigate some of her pain and suffering," said LaFond-Evans, who also founded Mito Hope and Help, a non-profit that provides advocacy and raises awareness, serving families in northeastern New York and down to the Southern Tier.
Brooke's pain medication recently had to be increased for severe back pain. Her muscles that support her back are weakening to the point where they cannot support her spine at times, Brooke said.
A couple weeks ago the family took an emergency trip to Boston to see Brooke's pulmonary specialist in Boston, who recommended medical marijuana.
To manage pain, she currently uses a Fentanyl patch, a synthetic opiate analgesic that is more potent than morphine. For "breakthrough pain" which is when pain that breaks through the Fentanyl, she takes hydrocodone as needed.
"The next hurdle is going to be then getting insurance coverage," said LaFond-Evans. Insurance carriers are not covering the drug as it remains a Schedule I drug and is still illegal under federal law.
Mito patients are also familiar with battling to get medications covered under insurance. A bill to require policies providing prescription drug coverage to cover vitamins and supplements, medical foods, and other medications to mitigate and/or treat the symptoms of mitochondrial disease is pending in the state Assembly and Senate. It is now in committee know in both state houses but stalled last year after state lawmakers sought a cost-analysis study that was never completed.
On a good day, Brook’s awake from around 12:30 to 3:30 p.m., then naps until about 7:30 p.m. and when she and her mother to watch some of her favorite TV shows, like Downton Abbey. Most of the time she’s in bed.
Friday night is her time to shine in the weekly drama class in Queensbury with the Adirondack Productions Theater, Inc., a company that organizes shows with a mix of actors who have physical or cognitive disabilities and those who don't
At a rehearsal recently Brooke rose from her wheelchair and took her place on the floor. She was front and center in a choreographed dance to "The Locomotion."
With her ease of movement, you wouldn't suspect she was battling the back pain and other debilitating symptoms. Though she'll be in pain from the class later, her passion gets her through it.
"I love signing. I love dancing. I love acting," Brooke said.
Follow Amanda May Metzger on Twitter @AmandaWhistle and read her blog at poststar.com/app/blogs.