MENTOR, Ohio — The final Sunday in February doesn't just mark the end of the shortest month but it is also known as Rare Disease Day. According to the National Organization for Rare Disorders (NORD), there are more than 7,000 rare diseases known around the world. They impact nearly 30 million Americans.
The objective of Rare Disease Day is to raise awareness among the general public and policy makers about rare diseases and the impact they have on patients and families lives. To show support for rare disease, you can wear stripes on Feb. 28 and take a photo of your stripes and post it to social media using the hashtag #ShowYourStripes or #RareDiseaseDay.
One family in Mentor knows a thing or two about rare diseases.
Alyssa and Jess Phillips are both battling their own rare diseases at the same time. Their mother, Debbie, juggles appointments, therapy, treatments and more while advocating for their health.
Eight years ago Alyssa, 17 years old at the time, was diagnosed with Complex Regional Pain Syndrome, also known as CRPS. According to NORD, about five in every 100,000 people are diagnosed with CRPS every year. Oftentimes the pain begins after an injury or a surgery.
"It can be very debilitating for some people," said Michelle Wilson, the outpatient rehab community liaison for University Hospitals. "And sometimes it doesn't even have to have an injury sometimes it's kind of that complex syndrome, that is just occurs but typically it involves a limb.”
Wilson said symptoms can vary depending on how the body responds to pain. Right now, there is no cure for CRPS. It is managed with treatments and therapy.
“It's just day to day 24 hours constant pain," said Alyssa.
Prior to her pain, Alyssa was active in roller skating. She said skating cause the ligaments in her left ankle to stretch causing a lot of pain. In 2012 she underwent surgery on her ankle. The surgery was a success, however her issues really began when the healing process began. Alyssa said her pain never stopped—it became stronger.
Shortly after, she was officially diagnosed with CRPS.
"My mom took the lead. She did all the research and stuff. Of course there's things that you don't want to see, but it's so scary and weird," Alyssa said. "I still haven't accepted it and it's what, eight years later? It's like that whole road is just -- it's learning and you just got to go with it."
Debbie said she spends hours online searching for answers and treatments while connecting with families all over the country who are dealing with the same disease. She's also organized a 5k run and 1k walk called Fight the Flame to help raise money for research.
“We have learned so much and we're still learning and that's the thing with rare diseases," she said. "It's really hard to find treatment because nothing works or if it works for her one day it might not work next time. It's all scattered."
Since November 2019, Alyssa has been working with physical therapist Amy Dubois at the UH Richmond Medical Center. Dubois said traditional therapy didn't work for Alyssa, so the pair had to take a different approach. They're seeing success.
“Alyssa is amazing. There are days that I know she's having a lot of pain and I see it in how she moves and I see it in just her her motor control in her leg," Dubois said. “Now that she's been coming to therapy, she really has a very normal walking pattern. We've been able to progress into imagining movements and then using them in function so even doing things like light luges, starting to actually bounce a little bit on a trampoline. That really gives some compression to that angle and she's able to tolerate it. She still has pain, but she's actually able to do it and she has more control and balance over that leg now.”
Because of her pain, for the last year and a half Alyssa hasn't been able to work. She was recently granted disability benefits. Through it all, Alyssa remains positive about her condition.
“You're given what your dealt and you can either take it in stride or you can be sad all the time and I don't want to be sad all the time," she said.
Wilson said Alyssa's positive attitude is extremely important. "Pain is not an emotion but her anger, fear, resentment, sadness and loss are feelings that every person with CRPS needs to work through."
But Alyssa's older sister, Jess, is now battling her own rare disease.
“I remember seeing like people on Facebook having cancer and following other people's stories and now it's like, wow, I'm the one with the cancer.”
In January, Jess, 27, was diagnosed with Primary Mediastinal B-Cell Lymphoma after doctors spotted a mass in her chest. It's a relatively rare non-Hodgkin's lymphoma. She had her first chemotherapy treatment on Feb. 8.
“It's been weird. I cried a lot in the very beginning. And then I think once I started chemo, I was kind of like, 'okay like no more crying.' Like Alyssa said, crying, you can be sad it doesn't do anything. I just I don't feel like I'm fighting cancer, I'm just kind of dealing with cancer. The chemo is what's fighting it, I just have to rest and let the chemo drugs do their job and kill the cancer.”
Unlike Alyssa's situation, Debbie and Jess have many more answers about her rare disease. Still - the difficult road continues.
Between treatments, therapy, long days and sleepless nights, the Phillips family said they plan to stick together supporting one another along the way.
“I have my family that’s all I need," Alyssa said.
