Low Immunoglobulin, High Alpha Protein—Could it be Ataxia Telangiectasia?

by Annie Pienaar

Anle was born at full term. Her weight was 2,7 and 49 cm. She accomplished all her milestones at the right time–sitting, crawling and walking at about 10 months. I breastfed up to two years and eight months. At about three years we realised that she had a bit of a balance problem but we weren’t too worried about it. She also had a lot of ear infections. She did normal pre-school and when grade R started we realised that she had a slow eye movement from side to side, so she could never read like a normal student. We did MRI scans and everything showed that she was perfect. Her eye movement recovered a lot with the right glasses.

At the age of seven, when she was in grade 1 her balance deteriorated so much so that we had to stop her modern dance classes. We then asked her pediatric neurologist to do more tests for us to figure out what was wrong. At that stage we already started with IG replacement to get her immunoglobulin levels up since a test had showed that they were non-existing.
We then did more blood tests and with the alpha protein levels high and the immunoglobulins low the diagnoses was confirmed as Ataxia Telangiectasia. Anle’s balance then deteriorated so that she needed a wheelchair when she was eight. She then started at a school for children with a disability and did well until about ten years old. We were then informed that the pace was too fast for her ability and they moved her to a life skills phase.

This year, 2016, we took her out of school and she is doing home school with private tutor twice a week on her level. Anle is turning seventeen in January and is still doing extremely well. She still receives IG replacement at the oncology department at Unitas Hospital in Centurion, South Africa every 4 weeks and is almost infection free. She is also with a bio kinetics trainer at the local gym and enjoys life to the fullest.