Speak with people who understand
When you have a rare genetic condition like Primary Periodic Paralysis (PPP), it can be difficult finding support and guidance. You are not alone. PPP Mentor Connect can put you in touch with a person taking KEVEYIS who may understand what you’re going through and who can share their medical journey and personal experience with you. Whether you are an adult with PPP or an adult caregiver of an adult with PPP, you can connect with an understanding mentor.
John didn’t sit back, he took control of his PPP journey
No one in John’s family talked about their family history of sudden paralysis, which caused John to feel alone and stigmatized. He felt that way most of his life as he continued to deal with it on his own.
John accepted it as part of his reality, but refused to accept feeling helpless about it. Instead, he took control of the situation and began reading journals to educate himself. Eventually, he was diagnosed with PPP and began looking for ways to move forward with his life.
In time, his daughter was also diagnosed with PPP. It made John work even harder. His efforts to stay informed led him to a PPP conference where he learned about KEVEYIS. Since starting on KEVEYIS, the number of his episodes has decreased. Initially, John felt dizzy after starting KEVEYIS, but he worked with his doctor to find a way to manage it. John wants everyone living with PPP to know that they are not alone in their journey.
Careful research and conversations with her doctor led Kim to KEVEYIS
Kim has suffered from PPP for as long as she can remember. Her own father was diagnosed with PPP, so when he found Kim lying in her crib unable to move, he suspected she had it, too. At the time, their local hospital was unable to diagnose Kim, so she went untreated for many years. Finally, when Kim was 17, she received the official PPP diagnosis.
After learning about KEVEYIS, Kim started researching and provided all of the information to her doctor. Together, they decided KEVEYIS would be a good option for Kim, and now she feels like she has greater control over her PPP symptoms. Kim did have some tingling in her fingers and lips, as well as blurry vision, but these side effects subsided in time.
Kim believes this condition has made her stronger in so many ways. She believes in her own capabilities and wants to encourage other patients to never stop learning and remind them that they aren’t alone.
Learn how an advocate made a difference for Leslie
When Leslie was 13, she started experiencing PPP symptoms. While asleep, her whole body cramped up, and she would wake up unable to move. One day, Leslie was rushed to the hospital with elevated potassium levels after going to a clinic with flu-like symptoms. Eventually, Leslie’s mom got her to a neurologist who diagnosed her with PPP.
Leslie’s mom is a former nurse and, Leslie says, her biggest advocate. She was the one who first heard about KEVEYIS and mentioned it to Leslie’s neurologist. Together, he and Leslie decided to try it out. When Leslie first started taking KEVEYIS she noticed a tingling feeling in her face, but she worked with her doctor on managing that side effect. Since starting on KEVEYIS, Leslie has been able to manage her symptoms and has had fewer PPP episodes.
Advocating for herself: Janine’s efforts led to answers
Janine spent years receiving misdiagnosis after misdiagnosis. All the while, she was experiencing episodes of muscle paralysis that were becoming more frequent and severe, signaling that her condition was getting worse. Her episodes of paralysis started to impact her daily life, affecting her ability to perform her job, causing coworkers to suspect she was faking an illness. Eventually, her progressive condition forced her into an early retirement.
After decades of suffering from puzzling symptoms, Janine finally had a breakthrough. She noticed that she was having problems swallowing during mealtime, which she explained to her doctor. Running out of answers and options, he prescribed a potassium supplement. Much to their surprise, Janine’s symptoms improved and she even began to see reductions in the frequency of her episodes of paralysis.
This sudden improvement inspired Janine to do research, and she discovered that there were more people like herself who had a condition called Primary Periodic Paralysis. At this point, everything started to make more sense. Janine brought her notes to the doctor, who was not familiar with PPP and was amazed by the information. Janine began adjusting her lifestyle and started on therapy. Unfortunately, the initial treatment was ineffective. When Janine was prescribed KEVEYIS, the frequency and severity of her paralytic episodes were reduced, and she was finally able to manage her daily life. She worked closely with her doctor to individualize her dosing regimen.
Persistence paid off for Paul
One day, during a seemingly routine shopping trip with his mom, Paul started to experience some very unusual and frightening symptoms. Immediately following the onset of a terrible migraine, Paul’s right leg began to drag. It wasn’t long before his right arm became extremely weak, followed by the entire right side of his body. He was rushed to the nearest hospital. On his way there, it registered just how serious this was when he overheard the paramedics call “code stroke.” Paul received an MRI scan, but regained his ability to move by the time the results came back. On that day, the ER doctor diagnosed Paul with hemiplegic migraines.
Over the course of the year, Paul’s episodes of paralysis progressed to affect his entire body, which differed from the symptoms of hemiplegic migraines. It seemed like his healthcare team wasn’t making headway toward an accurate diagnosis. One neurologist even referred Paul to a psychologist because she didn’t believe that his symptoms were real. Fortunately, another one of his doctors recommended a genetic test to confirm the original diagnosis of hemiplegic migraines. That test also revealed that Paul had a genetic mutation that causes hypokalemic periodic paralysis (HypoPP).
Even with a confirmed diagnosis, Paul and his mom struggled to find information about treatment and ways to manage his condition. So they searched for answers on their own. Eventually, they found out about a Periodic Paralysis Association (PPA) conference where they met others with PPP and learned about KEVEYIS. Still, some of Paul’s symptoms seemed different than what was discussed at the conference. It would take yet another discovery, related to a different condition, for Paul to get an answer.
Eventually one of Paul’s doctors determined that complications resulting from a condition that Paul knew about since his youth, called Ehlers-Danlos Syndrome, was causing some of his episodes of paralysis. Those episodes could be managed by relieving neck compression. So, that meant that the others caused by HypoPP required treatment. It all finally made sense. Paul remembered hearing about KEVEYIS at the PPA conference, so he brought it up to his doctor, who agreed that KEVEYIS seemed to be an appropriate treatment option for him. Now, with the help of his doctor, Paul is able to manage his PPP by taking KEVEYIS and avoiding triggers whenever possible. He also relies on his service dog Koira, who can warn him of PPP episodes 15-30 minutes before they happen.