(BPT) – Imagine you’re a college student performing with your musical theater troupe. It’s summertime and swampy-hot at the outdoor venue, and it doesn’t help that you’re wearing a pioneer dress that weighs about 10 pounds. But you’re singing and dancing under the spotlights, and your partner is picking you up to do a dance move.
Exactly then, you begin to go limp. It starts with your hands, which form into a claw-like position. Then your head dangles to the side. All of this happened to Kirsten — a young, healthy and active student who chalked it up to dehydration until she had more episodes in the week and years that followed.
It took three years for Kirsten to discover she had a form of “primary periodic paralysis,” or PPP, a genetic disorder so rare it affects only 5,000 to 6,000 individuals in the United States.
These temporary episodes of severe weakness or paralysis, most often in the arms or legs, can last minutes, hours or even days. Episodes of weakness or paralysis usually start happening in childhood, before age 20. Some people begin having attacks as early as age 2 or even younger. In its most common forms, the episodes are triggered by changes of potassium level in the blood.
Because its symptoms can mimic those of more common conditions, incorrect diagnoses and delays in diagnosis are common. After thinking her first severe episode was an isolated occurrence due to heat and dehydration, Kirsten had two more episodes that same week, and many more after that. She vividly remembers when she was finally diagnosed correctly.
“I vividly remember getting in my car following the appointment and breaking down in tears,” Kirsten recalled. “Everything finally made sense. I felt vindicated, and I finally had proof that I wasn’t making my symptoms up. I had gone through what a lot of other PPP patients go through: a time-consuming, demoralizing and oftentimes frustrating diagnosis process.”
Now, Kirsten wants to raise awareness both about PPP and about helpful resources for people diagnosed with it. At PavingMyPath.com, people with PPP and their loved ones can learn more about the disease, including how it’s managed and how it’s diagnosed. They can find a doctor who diagnoses and treats PPP, learn more about a treatment option, and hear real-life PPP experiences.
They can also learn about PPP Mentor Connect, a phone-based program that lets patients and their caregivers talk on the phone with knowledgeable patients such as Kirsten. The people she speaks with can relate to the impact PPP has had on her life, but they can also find hope in the full life she’s living now as a married attorney who enjoys hiking and skiing. With treatment, Kirsten is having fewer episodes, and when she does, they are shorter and usually limited to one part of her body.
“I didn’t reach out to the PPP community until a few years after my diagnosis, and now I see that that was a mistake on my part,” she said. “I learned so much and felt so validated after eventually reaching out and connecting with others who live with PPP.”