Living with Myotonic Dystrophy

Imagine having a plethora of physical pains and issues throughout your childhood and adolescence, with every doctor treating each individual symptom but never getting to the root of the problem.

Karen van As had to deal with this every day.

Karen refuses to let her symptoms define her, despite the pain and discomfort she endures on a daily basis. Karen gave birth to a beautiful baby boy, Marno, on March 28, 2018. Marno was born with clubbed feet, and the doctors in the intensive care unit put casts on him after three weeks. Doctors cut his Achilles Tendon when he was four months old. Lynette de Kooker, Karen’s mother, explained that while Marno’s milestones were delayed, it wasn’t enough to cause concern. When Marno turned one, his parents took him to a neurologist for a checkup to make sure everything was fine.

“Professor Ilza Smuts, the neurologist, requested a DNA test because she suspected Marno and Karen both had Myotonic Dystrophy,” Lynette explained.

Their worst nightmare came true on Monday, April 19, 2019. “The tests were positive. Karen was diagnosed with Juvenile-onset Adults’ Myotonic Dystrophy, while Marno was diagnosed with Congenital Myotonic Dystrophy,” Lynette stated. “We were taken aback. We had no idea what to do next, where to go, or how to handle this situation,” she continued.

Myotonic dystrophy is a multi-system disorder affecting both skeletal and smooth muscle, as well as the eye, heart, endocrine system, and central nervous system.
Muscular dystrophy refers to progressive muscle degeneration characterised by weakness and shrinkage of muscle tissue.
Myotonic dystrophy is commonly abbreviated as “DM” after its Greek name, dystrophia myotonica.

They decided to consult a Genetic Counsellor, who informed them about the risks and dangers of Myotonic Dystrophy (DM). She also assisted them in compiling a list of doctors and specialists who were required to perform annual check-ups on them. Cardiologists, ophthalmologists, and endocrinologists are just a few of the specialists on the list.

“Every week, Marno visits a speech, physio, and occupational therapist. Both his speech and muscle strength have improved as a result of this. His little body has been through so much that we are determined to provide him with all the assistance we can,” Lynette elaborated. She goes on to say that dealing with this disease is difficult and expensive, and that they are organising as many fundraisers as possible to ensure her daughter and grandson receive the best possible care.

Karen underwent three spinal surgeries before her family discovered she had DM, in the hopes of alleviating her symptoms. Unfortunately, the third and final surgery damaged her spinal cord, preventing her from walking for more than three months. “We had to teach her to walk again, but her right leg remained weak. If you saw her on the street, you would never guess she was battling this terrible disease. Few understand the daily struggle she endures.”

Donations from Rest Ur Ass Donkey Sanctuary’s Myotonic Dystrophy Fundraiser Market and their backabuddy page will primarily benefit Marno’s medical expenses and therapies.

“The medical aid told us that their condition, DM, will plateau, so they are unwilling to pay for any of his treatments,” Lynette explained. Marno is nearly four years old and deserves the best possible start in life. Lynette concluded by saying that every donation, no matter how large or small, is greatly appreciated and that they are fortunate to have the support of their friends and family.

Visit their backabuddy page at https://www.backabuddy.co.za/karen-and-marno/ to make a donation.