According to a story from Neurology Advisor, a retired physician experienced the challenges of being a rare disease patient first hand after being diagnosed with primary periodic paralysis thanks to her Anderson-Tawil syndrome. Despite suffering symptoms for nearly fifty years, Dr. Annabelle Baughan was only diagnosed at age 64.
Periodic paralysis is a genetically linked disease in which significant and sudden muscle weakness or paralysis of the muscles can be easily triggered by everyday circumstances and occurrences, such as temperature changes, a high carb meal, stress, physical activity, or excitement. This is caused by changes to the ion channels in skeletal muscle cell membranes that allows charged ions to leak in or out of the cells, which renders them unable to move. While there are several causes of periodic paralysis, Anderson-Tawil syndrome is one of the most unusual and dangerous. Also known as long QT syndrome 7, the syndrome is defined by heart rhythm abnormalities, varying potassium levels during paralysis attacks, fainting, and an elevated risk of sudden death. People with the syndrome may also display some distinctive physical features, such as scoliosis, webbing of finger or toes, crooked fingers, a small jaw, and low set ears. The syndrome is incredibly rare, with only about 100 known cases recorded so far. To learn more about periodic paralysis, click here.
Considering that Dr. Baughan has been living with this condition for much of her life undiagnosed, it probably comes as no surprise that periodic paralysis is frequently misdiagnosed. In many cases, doctors attribute the symptoms to other, more common illnesses or could even consider the episodes to be a sign of mental illness or psychological problems. Needless to say, this led to some frustrating experiences for Dr. Baughan.