Hazel’s birth was a difficult one. A vacuum extraction was necessary after she got stuck in the birth canal. Her APGAR score was 1/10 immediately after birth, and 3/10 after 5 minutes. She was kept in ICU for 5 days, with a huge hematoma on top of her head as a result of the vacuum extraction.

Hazel was diagnosed with hyperphenylalaninemia due to a Phenylalanine malabsorption at about 18 months to 2 years. Dr. Greg Wiseman, her pediatrician, started all the investigations as he was worried about her slow development – she only sat at about a year and walked when she was 2 years old. We started Hazel on physiotherapy with Marietta Noel (who was a retired Pediatric Physiotherapist and CNS specialist) when Hazel was 4 and a half months and continued this until she started walking. This was to assist with Hazels low muscle tone, and to take her through her developmental milestones in the correct sequence. Marietta was a great source of info and help during this time. Basically it was through her coaching and mentoring that Hazel walked.

Marietta was concerned that the low muscle tone would result in poor skeletal development, as Hazel’s muscles would not hold her fully upright, and as a result her legs and back would not develop straight. We had to make home-made “leg braces” to ensure her legs were straight. These she wore for 2 to 3 hours a day, and after bathing until bed time every night. All Hazel’s shoes have CNS heels fitted, together with Valgus pads. This is to ensure that her weight is on the outside of her feet for her leg and back development, and that she does not develop “knock knees”. This also helped to ensure that her feet grew straight and she didn’t become “pigeon toed” or have “duck feet”.

We did a loading test where blood was drawn and urine samples taken before administrating phenylalanine. Blood and urine samples where collected every 3 hours thereafter for 12 hours in conjunction with close supervision of a clinician. This was when Prof. Mienie detected phenylalanine malabsorption. Dr. Crutchley gave a second opinion after initially doubting the results. Further investigation did however confirm the disorder and prof Mienie indicated that he had never seen this type of result before.

Hazel is in a mainstream school, but she is a year older than the other kids in her class. She has continued with occupational therapy to improve gross and fine motor skills. Again this is to assist with muscle tone, and with general development. She also has remedial lessons for 2 hours a week, to improve her handwriting skills, comprehension, spelling and more, generally to improve her language and reading skills. She will need to improve her mathematics, but the remedial teacher wants to get her language up to scratch first.

Caryss (Hazel’s sister at age 6) has not shown any problems with malabsorption, although she has a slightly low muscle tone. She doesn’t like sweets, biscuits or ice cream, but otherwise she is in a mainstream school, and coping well. Her teacher has picked up that she has delayed speech development, but this is being addressed with a program called “Active English” within the school.