CAPE TOWN - A Mitchells Plain mother is pleading for financial assistance to get the necessities for her 15-year-old daughter who suffers from a rare genetic mutation.
Single parent Lucinda Jansen, 37, from Lentegeur, says her daughter Sharna-Leigh was misdiagnosed with autism when she was three years old, before being correctly diagnosed with Rett syndrome at the age of 10.
Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech. It primarily affects girls.
There is no cure for it, but medication, physio and speech therapy as well as nutritional support can help manage the symptoms, prevent complications and improve quality of life.
Jansen, who has another daughter aged two, had to give up her job as she cares for her older child full time, as well as her 86-year-old grandmother who has dementia.
“When Sharna-Leigh was diagnosed with autism at three, I didn’t know any better and went with it as she had autistic features.
“But over time I could see this was not the case and went back and forth to Red Cross Hospital stating this was not autism. A doctor re-examined her and she was properly diagnosed at 10 years old with Rett syndrome which I had suspected all along.
“She has stage 4 Rett syndrome and doctors stated she had a short life span. I did research and found little girls with Rett do not make it to their teenage years,” Jansen said.
The single mother has stopped taking her daughter to hospital as she cannot afford the costs any more and using public transport is just not an option.
“With Rett, there are liver problems, epilepsy, osteoporosis, scoliosis, loss of mobility, loss of all movement in her hands. She is not toilet trained and cannot be taught. She has irritable bowel syndrome. Sharna-Leigh is deforming,” an emotional Jansen said.
“She is regressing. Sharna-Leigh gets whole body spasms. She lost her speech too. The last time I heard my daughter speak was when she was three years old and her last words were ‘mommy’.”
Sharna-Leigh does not interact with anyone besides her mother and constantly looks into her eyes.
Jansen also cares for her parents who are both pensioners.
“I do feel lots of strain, mentally, physically, financially. My health does take a toll but I have to do what I have to do. I cannot let my children suffer,” she said. “I have been selling t-shirts (and) doing anything and everything I can in order to get the funds to fully care for Sharna-Leigh.”
A Back-a-Buddy page has been set up to fund raise for Sharna-Leigh, but to date only R3 280.02 has been donated.raised.
Her mother says the ailing teenager is in dire need of orthopaedic shoes, her monthly medication and adult diapers.
“I don’t know how long I have with her. I am her mother and to know my child is in constant pain from the moment she opens her eyes pains me,” Jansen added.
Those who can assist, can contact Lucinda Jansen on 068 561 23 52 or 064 008 5902.
robin.francke@inl.co.za
IOL