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Living with muscle dystrophy

Crawling, walking, running and jumping about . . .

These are considered “normal” milestones for many children, but not those suffering from muscular dystrophy.

In the light of Rare Disease Day, which was first celebrated on 29 February 2008 – a “rare” date – the objective is to raise awareness about this rare disease.

Through interaction with Dianne de Graaf of the Muscular Dystrophy Foundation in Goodwood, TygerBurger learned the stories of two little boys, aged one and five respectively.

“Muscular dystrophy is a group of disea­ses that cause progressive weakness and loss of muscle mass. In muscular dystrophy, ‘abnormal’ genes (mutations) interfere with the production of proteins needed to form healthy muscle. There are many kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood. Other types don’t surface until adulthood. These disorders affect children and adults. The disease is usually inherited with the defective gene being passed on from one generation to the next. To date there is no cure available for muscular dystrophy,” explained Dianne, who is the manager for the foundation’s Cape region.

Lukas van der Walt from Melkbosstrand and Lian van Eyk from Springs in Gauteng have both been diagnosed with a rare form of muscular dystrophy called LMNA-related congenital muscular dystrophy. According to Dianne, Laming A/C congenital muscular dystrophy (LMNA-CMD) is predominantly congenital and on the severe end of the spectrum.

“Affected individuals have a weak neck and axial muscles, can develop ‘dropped head’ syndrome and may not achieve sitting. Contracture of the achilles tendons, hips, knees and spine are involved. Scoliosis and spine rigidity can develop. Some affected individuals can achieve walking but will lose that ability later. Respiratory insufficiencies develop requiring intervention. Cardiac conduction abnormalities can occur,” she explained.

Lukas van der Walt’s father, Tjaart, chatted to TygerBurger on Monday afternoon when he shared that his wife, Lize, had a smooth pregnancy with no complications.

“Lukas was born on 10 June 2019. He was a week overdue. We had planned for normal birth, but Lize was taken in for an emergency c-section. At birth, he had breathing issues and doctors saw that he had hypoplastic lungs which means his lungs weren’t developed properly. Lukas was then taken to the neonatal intensive care unit (Nicu). At two-months-old, more testing was done as he made very little movement. When Lukas was three-months-old he was diagnosed with LMNA-CMD.”

At four months Lukas was given a tracheostomy that involves creating an opening in the neck to place a tube into his windpipe. He is fed through this pipe and is also on a ventilator. Tjaart said he can breathe on his own, but he is kept on the ventilator because his diaphragm is a muscle.

Despite the challenges, Tjaart described Lukas as a very strong-willed toddler. “He says a few words like ‘mamma’. While we don’t know his life expectancy, we have peace that his life is one of quality. My wife and I have grown a lot as individuals during this time and we’ve made the choice to give him a quality life.”

Lian van Eyk’s mother, Hanti, spoke to the newspaper to share in their family’s journey.

“Lian is our ‘laat lammetjie’ as his sister is 18 and brother 12-years-old. He was our surprise baby. My pregnancy was quite normal and I delivered via c-section. He was very tiny, weighing in at 2.2kg.

“Everything seemed to be going well until my husband and I noticed that he can’t lift his head. At the age of crawling, no crawling took place. We took him to the paediatrician who then referred us to a neurologist,” said Hanti.

She said necessary blood tests were done and Lian was also taken for a muscle biopsy where he tested positive for limb-girdle muscular dystrophy (LGMD) type 2B. Fifteen days before his second birthday the family got the final diagnosis which indicated that he suffers from LMNA-CMD.

“Raising Lian opened our eyes to a world we never would have experienced otherwise. It teaches you more about patience, unconditional love, hope and grace. You get a different perspective on what matters in life. You suddenly realise that time is a precious gift and you never know when things might change. You recognise the significance of small things in life. You live in the moment. You find joy in that ‘wheelchair chase’ around the house or in the excitement of reaching another milestone – not to mention the witty comments only special needs parents would understand,” said Hanti.

Lian is unable to eat on his own so he’s fed through a mic-key feeding tube, Hanti said.

“Small things that come with no effort for us are a huge challenge to him, like simply lifting his arms. However, none of these challenges can dampen the brave and joyful spirit of this young boy. No matter what challenges Lian faces he always has a smile on his face. He is a little “chatterbox” who amuses everyone with his humour and cute personality.

“He absolutely loves driving around in his power wheelchair, chasing his brother and sister around the house. He gets excited about everything and is always ready for whatever life throws at him.”

For more information about muscular dystrophy visit the Muscular Dystrophy Foundation of South Africa website at www.mdsa.org.za.

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