One of the biggest challenges for the PPP community is obtaining a correct diagnosis once symptoms appear. The journey from the first symptom to a confirmed diagnosis can take as long as 20 years. Given the general lack of knowledge about PPP, symptoms are often mistaken for those of more common conditions that affect the nervous, musculoskeletal or cardiovascular systems.
I was fortunate to be diagnosed at a young age – my mother was not. She wasn’t diagnosed until she was 29. However, after her diagnosis, she was able to recognize the symptoms in me and facilitate my diagnosis when I was 6-years old.
The good news is, thanks to new gene-sequencing technologies, a simple genetic test can often confirm the diagnosis in a patient with a medical history that is consistent with the condition. It may also be diagnosed through special neuromuscular testing without a genetic test.
Like with me, PPP is usually inherited from a parent to a child and may affect multiple individuals within a family. Family history should be a part of diagnosis.
However, while usually inherited, PPP sometimes presents as a de novo mutation, adding to the difficulty of diagnosing the disorder.
My ride sponsor, Strongbridge Biopharma®, offers a no-cost periodic paralysis gene panel test to healthcare professionals and their patients who qualify through a program called Uncovering Periodic Paralysis. You can learn more by visiting http://www.uncoveringperiodicparalysis.com/