Leap day, Rare Disease Day, and a surprise party

One local’s struggle could save your life

On Feb. 29 Anna May celebrated her 20th birthday with family and friends and also raised awareness for the ninth annual Rare Disease Day.

Rare Disease Day is designed to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives. Julia May said her daughter wants to share her story so the average person can think twice when experiencing symptoms that are often overlooked.

On leap day/Rare Disease Day this year, Anna and her family celebrated 20 years of life while reflecting on the past three years she’s battled with the rare brain disease called moyamoya.

After two 10-hour brain surgeries in California in February 2014, Anna has made a tremendous amount of progress, according to Julia May.

The disease is known for its sporadic symptoms and causing people who suffer from it to have strokes due to the lack of blood circulating to the brain.

Julia recalls Anna suffering from severe migraine headaches and hand cramps, with the intensity of those symptoms increasing as time went by. Her eyesight would tighten at times and she would experience body twitching as well. Over time Anna could no longer participate in sports or drive.

The brain surgeries performed involved revascularization of Anna’s brain, using vessels from the back of her head, to help create blood flow that had been lost.

The surgeries “reduced the chances of a catastrophic stroke significantly,” according Julia May.

“A second 10-hour brain surgery reduced chances of her having a stroke from a 96% chance down to a 4% chance and was supposed help create blood flow that had been lost,” said Julia.

When Anna’s younger sister, Maggie, who was in her freshman year at Roger Williams University, heard that Anna was still experiencing health issues, she transferred to Anna’s school, the University of New Hampshire, to be there for her sister when she needed her.

“They were always pretty tight, but I can tell this has brought them together more. Whether they’re grabbing coffee together or Maggie is grabbing Anna’s medicine, they are there for each other,” said Julia.

Now Anna experiences seizures, but only once or so a month. The family’s hope is that as time goes on the seizures will stop completely. Her mother explained that she needs to find somewhere to lay Anna down within 20 minutes of her having a seizure because her brain begins to overheat and she blacks out.

“It can be terrifying,” said Julia. “Someone might be having migraines and it might be just that, but it could be more. They think one in 2 million people have moyamoya, but one in 200,000 really have it but it goes undiagnosed.”

During a surprise trip Anna’s mother and father, Rob, took to see Anna for her birthday at school, the family took it upon themselves to promote awareness for not only moyamoya but Rare Disease Day as well.

“Everyone probably has a relative who passed away from a strange stroke 100 years ago,” said Julia. “Who’s to say that it wasn’t caused by blood vessels in the brain? This disease was discovered in the late 70s and is known for its progressive symptoms. It’s still very unknown. Doctors still don’t understand the origin of it.”

Rare Disease Day was bigger than ever in 2016 and was celebrated in over 80 countries this year by people sharing their stories.

Although, the celebration takes place on the last day of February each year, find out how to participate for the entire month of March by contacting Carrie Ostrea, Global Genes’ manager of advocacy, at carrieo@rareproject.org.