How a rare disease stole woman’s smile

Megan Hunter (32) was a healthy child until she started battling to smile, speak, swallow and close her eyes when she was 15.

Doctors said she had an eating disorder and that she was making it all up but eventually she saw a neurologist who diagnosed her with myasthenia gravis (MG), a rare, chronic neuromuscular disease that leads to skeletal muscle weakness.

“The message between my nerves and muscles get blocked. I would know that I need to swallow my food but my muscles would not get the message so the food would just sit in my throat. I cannot swallow it down and I cannot cough it out…I cannot close my eyes at night time or walk upstairs,” she said.

Years of medication, treatments, operations and hospitalisation failed to keep her MG under control and in 2019 she underwent the first stem cell transplant in South Africa for the rare condition.

“There is no cure for the condition, just treatment to make it a little bit easier,” Hunter said.

Through Rare Diseases SA (RDSA), Hunter’s now lives to make a difference in the lives of the rare disease sufferers community as she knows full well what it is like to feel alone, misunderstood and overwhelmed.

She says finding the organisation was like discovering a tribe, a group of friends, supporters and warriors.

Every day she chooses to live by the motto “Choose Kind” and encourages others to do the same.

The countdown to Rare Disease Day 2021 has officially begun, taking place on 28 February. In order to create #RareAwareness of the challenges people living with a rare disease and their families face every day, RDSA has likened the “new norm” to “living rare”.

“In light of the global pandemic, ordinary citizens have experienced the reality of those living with rare diseases and other life-threatening diseases,” says Kelly du Plessis, CEO and founder of RDSA.

“Rare disease patients are immuno compromised citizens and their movement is usually limited from the time they receive diagnoses. For many, their early childhood marks the beginning of living with a heightened awareness about their surroundings and health.”

She said for rare disease patients, avoiding crowds for long periods, touching surfaces that may expose them to germs and constantly washing and sanitising their hands was standard.

According to RDSA, there are more than 7 000 rare diseases that affect at least 300 million people worldwide.

In South Africa, there are about 4.1 million rare disease patients and for the vast majority of these rare conditions, there is no known cure.

RDSA considers a disease as rare when it affects less than 1 in 2 000 citizens.

As part of the build up to Rare Disease Day 2021, RDSA is today hosting a virtual event to highlight the need for exploring a national rare disease framework and strategy for South Africa to improve the lives of those affected by rare conditions and the need for continued political leadership and action to improve care for rare diseases patients.