Family plagued by undiagnosed illness

2016-05-09 10:30
Sisters Reshma and Keshia Maharaj are appealing for any information about an illness that has plagued their family for generations.

Sisters Reshma and Keshia Maharaj are appealing for any information about an illness that has plagued their family for generations. (Ian Carbutt, The Witness)

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Pietermaritzburg - A Pietermaritzburg family suffering from a undiagnosed hereditary disease are appealing for help in the form of knowledge about the disease.

Reshma Maharaj and her family have been battling severe muscle cramps and temporary paralysis brought on by the cold for generations, and now, with one of her children fighting the terrifying symptoms, she has appealed for help in diagnosing the condition.

Maharaj said she and her family suspected that the diagnosis was paramyotonia congenita, a disorder that can prevent muscles from relaxing, especially after exercise or the cold.

Muscles stiffen commonly in the face, neck, arms and hands, according to the U.S. National Library of Medicine, but the illness can also affect muscles used for breathing.

Maharaj said they had not been diagnosed, but she and her family had experienced these symptoms since birth.

“During the winter, it is the worst,” she said.

“Our eyes close, our hands stiffen and my sister has fallen down the stairs because she had temporary paralysis in her legs.”

She said it was embarrassing growing up because no one knew anything about or understood the severe cramps and temporary paralysis they were experiencing.

“In our experience, the cramping and stiffening of muscles is usually brought on by cold, and exercise, even sneezing.

“Growing up, my sister and I learned to live with it but now that our children are affected, we would like clarity on what to do, on where to go from here,” she said.

Maharaj said her youngest son had inherited the illness while her eldest son was symptom-free.

“Because we don’t fully understand what this is, it is difficult trying to explain to the teachers why he should not take part in PE, especially swimming.”

Maharaj’s sister Keshia said she often experienced the stiffness of her leg muscles at night and sometimes while driving.

Maharaj said she constantly had the heater on in her car otherwise braking and accelerating would be a “major challenge”.

She said she had consulted a general practitioner and a paediatrician about the condition, but they had diagnosed it as growing pains.

Maharaj is appealing to the public to help her find out what the illness could be and how it could be treated. Should anyone have any information, contact Keshia on keshia.maharaj@gmail.com

• chelsea.pieterse@witness.co.za

Read more on:    pietermaritzburg  |  illness

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