Elle Visagie, daughter of Danny and Angelika, is a one year old little girl, a resident in Piet Retief, but a special girl with a rare disease called Prader-Willi Syndrome.
Elle was born on 18 May 2015. She had severe hypertonia (low muscle tone) and was very limp and did not cry. She couldn’t nurse and was admitted to the NICU. Because she failed to thrive, she was given a feeding tube for four months. On 17 August, the pediatrician readmitted her to Kloof Hospital, where tests for Prader-Willi Syndrome was done.
She immediately started receiving early intervention treatment physiotherapy, occupational therapy and speech therapy. Eventually on 17 December 2015, after four months of waiting, she was diagnosed with PWS. What is Prader-Willi Syndrome? PWS is a complex neurobehavioural genetic disorder resulting from abnormality on the 15th chromosome. It occurs in male and females equally and in all races. It is estimated that one in every 15 000 to 30 000 people have it.
The Prader-Willi syndrome is characterised by low muscle tone, a short stature if not treated with growth hormones, cognitive deficits, incomplete sexual development, and behavioural problems. A chronic feeling of hunger coupled with metabolism problems, can lead to excessive eating and life-threatening obesity.
Newborns usually have a low birth weight, low muscle tone, and difficulty sucking due to the weak muscles (Failure to thrive stage). The second stage (thriving too well), starts between the ages of two and five years and lasts throughout patients’ lives. They may show increased appetite, weight control issues and motor development delay, along with behavioural problems.
The biggest concern and saddest part for people living with PWS is the constant feeling of hunger. They never feel full. People with PWS cannot live independently. There is currently NO CURE. Elle’s endocrinologist prescribed the growth hormone Norditropen Nordilet. She has started treatment on 1 February and receives a daily injection.
This is very expensive treatment and unfortunately there is currently no medical aid in South Africa that pays for this treatment. As she gains weight, the price will increase. Eventually it will reach up to R 10 000-00 per month. As we all know we are living in very hard times, and R10 000-00 a month (just for medication alone) is very strenuous on any family.
Not everyone likes to go around asking for donations, but sometimes it is necessary to help one another in a community. For more information feel free to contact Danny on 082 307 5293 and Angelika on 072 182 3396. should any person want to help with a donation, there is an account for Elle. Elle Visagie, First National Bank, Account Number: 625 903 863 08, Branch Code: 250655.