Lian van Eyk (17 months) was diagnosed with limb-girdle muscular dystrophy (LGMD) Type 2B on January 17.
According to Lian’s mother, they were informed this ‘new’ type of LGMD is a rare phenomenon, only being diagnosed twice in babies of his age.
This rare disease causes weakness of the voluntary muscles in the hip and shoulder areas.
His mother, Hanti van Eyk (32), says Lian’s prognosis is, at this stage, still vague as there is limited information available on this condition.
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She first noticed something was wrong when he was about six months old, when he couldn’t lift his head while lying on his stomach.
The process to have Lian diagnosed started in October, when a magnetic resonance imaging (MRI) was taken of his brain and several blood tests were done.
The MRI tests came back negative for any problems.
However, blood tests showed that Lian had increased levels of creatine kinase, which in many cases indicates muscular dystrophy and not just low muscle tone.
These tests were followed by a visit to a cardiologist and a pulmonologist (treatment of lung conditions and diseases).
“Fortunately we could eliminate any problems with his lungs and heart,” says Hanti.
Lian’s father Doné (35) says a muscle biopsy was done as well as a sonar of Lian’s kidneys, because he started getting repeated urinary tract infections.
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“The biopsy indicated that Lian’s muscle cells do not produce a protein called dysferlin, which pointed the neurologists to the diagnosis of LGMD Type 2B,” he says.
At this stage Lian can still not crawl, walk or stand and has no control over the muscles in his neck.
“He goes for weekly physiotherapy sessions and we have received a pair of ankle foot orthosis which fit in his shoes to help him stand and to strengthen his leg muscles,” says Doné.
He says Lian also needs a special stroller to prevent scoliosis. The gait trainer and stroller is not manufactured in South Africa and has to be imported.
“A gait trainer, which is similar to a walking ring, will help Lian to walk and also provide muscle stability around his waist, chest and arms,” he says.
On May 23, the couple will take Lian to a neuro-muscular specialist at the Red Cross Children’s Hospital in Cape Town, who specialises in childhood muscle-related diseases and plans to do possible research on Lian’s disease.
“Currently there is no LGMD 2B research available in South Africa. To get Lian on a programme for possible research or potential future treatment, genetic tests need to be done, which are also not available in South Africa,” he says.
The couple, who have two older children, Leané (15) and Duan (9), say they are sharing Lian’s story to make the community aware of LGMD 2B.
Follow them on their Facebook page.
