Patient Worthy had the privilege to attend in-person the Periodic Paralysis Conference, which took place from October 30-31, 2021 and was organized by the Periodic Paralysis Association (PPA). This event was a tremendous opportunity for the periodic paralysis community to come together, share their stories and experiences, and learn about the latest research related to periodic paralysis. We were also able to sit down with patient Janine Gruna, who shared her own personal experience.

About Periodic Paralysis

Periodic paralysis is a group of uncommon genetic illnesses that lead to periods of muscle weakness and paralysis. Paralysis is often triggered by stimuli such as heat, cold, physical exertion, excitement, stress, lack of food, or a meal that is high in carbs or potassium . The disease is linked to malfunctions of the ion channels in the cellular membranes of the skeletal muscle cells. This allows charged ions to leak in or out of the cells. These cells then lose polarity and cannot move. There are four different types of periodic paralysis, and all forms  are related in varying degrees to fluctuations of potassium levels in the muscle cells. Periodic paralysis is very difficult to diagnose, and the process can often take years. Treatments include carbonic anhydrase inhibitors (ex. dichlorphenamide), avoiding potassium for patients with hyperkalemic form and supplementing potassium in the hypokalemic form, and lifestyle changes. Lifestyle changes include avoiding triggers like extreme temps, carbs, and strenuous exercise. To learn more about periodic paralysis, click here.

Janine’s Story

“As a child I didn’t always keep up with the other kids when it came to running. I knew something was up from the time I was a little kid.” – Janine

Janine inherited periodic paralysis from her father, but he was never diagnosed properly. As a result, Janine lived with symptoms of the disease for a long time before she knew what she had. Unfortunately, this is a common experience for periodic paralysis patients and for rare disease patients as a whole.

At age 48, Janine was hospitalized with paralysis from the neck down. As always, the doctors didn’t know what was going on and they were convinced that she was faking her paralysis. The doctor shoved her off the gurney (she was caught by a nurse, thankfully). After running further blood tests, they recognized that her phosphorus was abnormally low; her potassium was low too, but not as severely. As it turned out, Janine has a form of periodic paralysis in which both phosphorus and potassium levels drop.

Treatment with phosphorus helped improve her condition, but it still took her weeks to recover as her potassium was still too low; she was suffering from headaches throughout the experience. She was diagnosed with hemiplegic migraine, a common misdiagnosis for periodic paralysis patients. Over the years, her doctor tried different treatments with little clue of what would work and what wouldn’t.

After several more hospital visits, Janine noticed that potassium helped halt her paralysis episodes. She started searching for more information and from here first learned about the Periodic Paralysis Conference in 2013. She was 58 at the time. The more she read about the disease, the more Janine was convinced that this was what she had. She immediately signed up to attend.

With a ton of new info, Janine returned to her doctor and explained everything:

“He looked at me in shock and said, ‘Janine I’ve never heard of this disease but I believe you. Let’s get you started on treatment.’ “

Since getting proper treatment, Janine has been able to avoid paralysis attacks. However, lifestyle changes, such as avoiding triggers, are also a critical part of successful treatment. Janine has learned that patients with rare diseases like periodic paralysis have to learn to be their own advocates:

“You are the one that knows your own body the best. Don’t let someone else persuade you that you don’t know what you’re talking about, because sometimes the doctors don’t have the answers.”

Community with other patients has been a vital part of Janine’s journey, and she has continued to attend the conferences over the years.

“I feel like there’s a community among us, and you really do see it with the organization. When you find another person with the same disease it’s such a joy because they know what you’re talking about.”