Linda's South African Journey

As part of the Ataxia Aware project we are sharing personal accounts of those suffering with Ataxia or other rare conditions. We want to provide a safe space for people to talk about their experience with disability, whether themselves or someone close to them.

My name is Linda, I am 33 years old and I was born on May 23 1987, in the Park Lane Clinic Johannesburg South Africa, on my Gran’s birthday. I was premature and spent two weeks in the neonate ward and the doctor put me into an incubator. After I had gained weight they sent me home.

At the time they could find nothing wrong with me. I had no feeding or breathing problems. I was normal. I started to talk at a normal time and took my first step at about two-years-old. It was a little unclear as to my degree of clumsiness as a small child. On the one hand, I had never been able to ride a bike or swim. I did take dance lessons in ballet, tap and contemporary. I have more than twenty certificates in this subject including the first of the class. I was even able to clamber up Table Mountain. I have always been active in my life!

At five-years-old, I was taken to the Endocrine Clinic in the Johannesburg Hospital for poor growth. A doctor at the clinic noticed that one side of my chest was more pronounced than the other and they referred me to a cardiologist. I was diagnosed with a hole in my heart and the next day I had open-heart surgery. The operation was successful, and I was in and out of the hospital for over five days. I still have a leaky mitral valve which is monitored once a year. As a child, I had a febrile convulsion lasting about an hour. I was taken to the Edenvale Hospital and they managed to bring my temperature down and sent me home. I had no seizures after this one. At the same time, I had ongoing ear infections, the ENT put grommets in both ears, and I had surgery for a mastoid on my left ear though, today my hearing is normal.

I started school at age six and IQ testing showed that I was average. I did have learning problems and I had to repeat grade 5.  One day my teacher called my parents into the school and said I would not make grade 12. My parents got me transferred to the School of Achievement in my grade 7 year. All was going well in the new school and I had passed the consecutive grades with flying colours. In the middle of my matric year, I fell over as I stepped down from the school bus and broke my teeth. I also fell down the stairs and I had fallen through a glass table. I had started to become a little unsteady. I passed my matric and got into Nursing College, and at the time as I was a volunteer at Little Eden working with mentally challenged children. However, my balance had started to give me problems. That year I had to give up nursing. My children at Little Eden helped me realise that whatever life throws at you there is always someone worse than you!

I was sent to a neurologist and got an appointment at the Genetic Counselling Clinic Donald Gorden. Blood was taken for genetic testing to see if I had Ataxia, specifically a condition called Ataxia Oculomotor Apraxia type 2 (A0A2). The blood was sent to Birmingham in the United Kingdom, unfortunately, the cell line did not grow. Therefore for my 21st birthday, my parents took me to the United Kingdom to do the test. I met Professor Taylor from the University of Birmingham, he took blood and confirmed I had A0A2. He said my blood will be grown in tissue culture and frozen in liquid nitrogen. The sample will be used to study the sequences of genes and levels of proteins that may be important to my disorder. Professor Taylor has twenty patients that he knows of in the UK with A0A2 and me.

I also met up with Alan Thomas, one of my online friends, and we have been great buddies over the airways. I came home from the UK feeling positive! I went on a computer course which I passed, and I then started the support group Ataxia South Africa (ASA) on Facebook which I now have over 200 members.

My Ataxia was inherited as I have two copies of a faulty gene, one inherited from each parent. My parents are carriers of Ataxia, although they don’t have Ataxia themselves. Ataxia means lack of order and is used by doctors to describe problems with balance and coordination. My cerebellum the part of my brain, controlling movement and coordination, is shrinking. I find that I fall over if I don’t have someone to hold on to and I struggle to walk in a straight line. People with Ataxia are commonly accused of being drunk, this can be very distressful. Even though the condition progresses, I do regular exercise to keep my muscles as strong as possible. Ataxia is not treatable. Hearing about the latest research news always fills me with the hope that we will one day have a cure.

On behalf of Ataxia and Me, I would like to thank Linda for sharing her journey to diagnoses. I hope that her positive message resonates with as many people who are suffering from Ataxia or other rare diseases whether you are the patient, family member or carer.

If you would also like to get involved and share your experience with Ataxia or other rare condition, please get into contact with us through our social media linked below:


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