MAYFIELD — Many of our well-known illnesses and conditions are fortunate enough to receive funding and research in hopes of finding a cure, but for those suffering from a rare condition, the road, and sometimes the fight, to receive treatment can be that much more daunting. Feb. 28 marks Rare Disease Day and Lori Meca of Mayfield, along with her daughter, Camryn, are hoping to bring attention to a rare disease that brought them on a journey they never expected.
Camryn was diagnosed with narcolepsy, with cataplexy, her freshman year at Mayfield High School. Today she is a thriving senior looking to graduation, but her mom says getting her to this point was a struggle. Meca had to be relentless when it came to weeding her way through specialists, testing, medications, and finally a trip to California that changed her daughter’s quality of life.
“As a mother, I simply wouldn’t stop fighting for our daughter until I got to the bottom of what was going on inside of her body. For narcolepsy in particular, statistics show that it usually takes about 10 years for a person to be diagnosed. We consider ourselves lucky that it only took about six months for our daughter’s diagnosis,” said Meca.
Meca said during Camryn’s freshman year, her daughter began suffering from extreme exhaustion, taking frequent naps. Meca explains her daughter began coming home from school and sleeping until she had soccer practice.
“She would wake up just long enough to make it through her practice and then come home and go back to sleep until dinner time, where she would be up just long enough to force herself to sit up and eat her dinner, and then she would drag herself upstairs and go right to bed for the night. No amount of sleeping seemed to give her any kind of relief from her sheer exhaustion. It was heartbreaking to watch and even more gut wrenching that nobody seemed to know what was happening to her, or why. All I knew is that her entire world had been turned upside down,” said Meca.
Camryn’s pediatrician suggested it was normal teenage behavior, and maybe even depression, but Meca said she was confident her daughter’s problems were not psychological. She said she knew this was not “normal” behavior for Camryn.
“We started to see her alienate herself from her friends and she seemed to only be comfortable in our home, or when with her immediate family. Our once overly-confident adolescent was turning into an isolated angry, extremely irritable and moody teenager who never laughed or seemed to enjoy herself any longer and it felt as though she were slipping right through our hands,” said Meca.
Meca began to pressure the pediatrician for more in-depth testing, including blood work, an EKG, and specialist appointments. During this time, Camryn was able to maintain her honor roll grades, and continued to play sports, however Meca said by early November 2014, Camryn began complaining about a “weird” feeling when she would laugh, one that made her feel weak enough to collapse.
“I finally got to witness first hand what it looks like when the weakness came on when she laughed. I was sitting at my computer and we both began laughing, and suddenly she collapsed to the floor. It was at that moment that I made a vow to myself to keep on pushing until we found out what was wrong with her, said Meca.
Shortly after, Meca said described the feelings Camryn was having to a psychologist, to which the term cataplexy was first used. The psychologist explained that cataplexy is almost always only present in somebody who has narcolepsy, recommending she see a neurologist as soon as possible.
“I made the appointment that day and in the weeks that passed while we waited for the appointment I made it my mission to educate myself on narcolepsy with cataplexy. I couldn’t believe it had taken us so long to finally have a lead in the right direction. It seemed so obvious after reading about the disease that this was what she had, and yet all of the providers that we had worked with had missed it,” said Meca.
Camryn took part in a sleep study to confirm the diagnosis, and was officially diagnosed as having narcolepsy with cataplexy. Meca said hearing the words left feeling confused about what Camryn’s future would hold.
“Although I was pretty sure the diagnosis would be confirmed, hearing it sent me through a whirlwind of emotions. It was a grieving process and I needed to learn to let go of the hopes and dreams I once had for our daughter, and start living one day at a time and only focusing on getting her the help she needed, with the right medications,” said Meca.
Camryn was then sent of a path of trying to find what combinations of medicine would work for her. During this time her collapses became more and more frequent. During her sophomore year while playing in a spring soccer league she could barely play five minutes, coming off and collapsing.
“I lived in constant fear that she would collapse on the field, or basketball court. It was heartbreaking to watch as a parent and I knew that something more had to be done. I just wasn’t sure who to turn to or what to do at that point, said Meca.
Meca said it was on the advice of another parents that Dr. Emanuel Mignot through Stanford University in California came into their life, and changed everything. With the power of persistence, Meca was able to secure an appointment with Mignot, and they soon traveled across the country.
“When the day finally came to board the plane to head to California, we had a great support system with us. Her grandmother, her aunt, and myself all flew out in the hopes of getting our girl better. Her cataplexy was worse than ever while we were there, but we remained optimistic and Dr. Mignot lived up to our expectations,” said Meca.
By the end of Meca’s sophomore year, she was began taking a trio of medications at the correct dosages. In her junior year she began to make major overall improvements, including on the soccer field and the basketball court. She was named captain of the varsity basketball team and most improved offensive player on her varsity soccer team. As a senior, she is in the top 20 of her class, has broken a basketball record hitting seven threes in a single game and most recently surpassed 40 three-point shots in a single season.
“It finally felt like we were getting our girl back. Camryn obtained her driver’s license, and began coming out of her shell with friends again as we finally had her cataplexy under control. She finally started talking about her future and her goals for after graduation, “said Meca.
Meca said she and her daughter know they want to pay it forward by bringing awareness to the added emotional and physical stress of trying to receive the right treatment when your condition isn’t one that gets a lot of recognition. In honor of Rare Disease Day, Camryn is on a mission to raise money to help fund research for others suffering with narcolepsy.
“We love to use it as a reminder of the struggles that families go through when trying to receive a diagnosis for a condition or a disease that might not be ‘mainstream,’” said Meca.
Meca said last year Camryn raised over $1,500 holding a bake sale and this year she wants to plans to out do herself. Together they are heading up a fundraiser “Nickels for Narcolepsy,” a can and bottle drive to support the Stanford Center for Sleep Sciences and Medicine. Donations can be brought to Fuel and Food on Route 30 in Mayfield or the Country Feed Store on Route 30 in Amsterdam.
Camryn will be graduating from Mayfield June, with plans to attend Fulton-Montgomery Community College and eventually the College of Saint Rose, majoring in elementary education.
“It’s exciting to think that she is really trying to make a difference in this world. She is such a fighter and such an inspiration to all. She is a true living testament to the fact that you should never use your disability as an excuse. She tells us all the time that narcolepsy will not define her. Her father and I are her biggest fans and are so proud of all she’s accomplished. We can’t wait to see what the next chapter in her life brings, “said Meca.
To learn more visit www.wakeupnarcolepsy.org and www.sleep.stanford.edu.
