Meet Elle - as told by her mother, Angelika

Apr 2017



Our precious baby girl, Elle, was born on 18 May 2015. She had severe hypotonia (low muscle tone) and was very floppy 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 2015 at 3 months old, the paediatrician readmitted her to Kloof Hospital, where tests for Prader-Willi syndrome were done. We immediately started with early intervention treatment ‒ physiotherapy, occupational therapy and speech therapy. 

Eventually on 17 December 2015, after four months of waiting, we received the dreaded call from the paediatrician, confirming a positive diagnosis of Prader-Willi syndrome.

Elle’s endocrinologist prescribed the growth hormone Norditropen Nordilet. She has started treatment on 1 February 2016 when she was almost 9 months old and receives a daily injection.

Elle has reacted really well on the growth hormone.  She was able to sit unassisted at 12 months and was crawling at 18months.  She is now almost 2years old and weighing only 10kg.  She is able to give a few steps with the help of a walking frame.   Her core muscles are very low but hopefully she will be able to walk by herself soon.  She still receives weekly occupational therapy and physiotherapy and that has helped her a lot.  The therapists concentrate a lot on her fine motor skills at the moment.  She is also seeing a speech therapist twice a month.  Her speech is still very limited with her only being able to say a few words.

It has been a tough 2 years for us dealing with her diagnoses emotionally.  Also the financial strain it has brought with it as the growth hormone therapy is very expensive and currently there is no medical aid paying for this.  But she is such a happy child and brings us so much joy and we try to stay positive and take it day by day.  

Elle walking

It is really important for us as her parents to raise awareness about Prader-Willi syndrome as it is such an unknown syndrome and so few people know about this.  We think it is important for us as parents/carers/family/friends to advocate about this syndrome and make people aware, so that more research can be done and maybe someday hopefully there will be a cure for people living with this syndrome.  We have already learnt so much about this very complex syndrome and are still learning every day.  But most of all we have learnt so much from our little Elle and can’t imagine our lives without her!

For more information about Elle’s journey living with this syndrome go like her Facebook page @ellesstory.