Noel’s Prader-Willi Diagnosis.

The story of Karina

When I found out I was expecting my 2nd baby in March 2013 after some trouble conceiving, I was excited. First 16 weeks I had some issues with bleeding with no known cause as to why, I was nervous. We learnt we was expecting a boy at my anomaly scan and despite my pregnancy issues, he was healthy. Things changed at around 30 weeks when I noticed that Noel was not moving as much, I reported this to my midwife, his reduced movements continued leading to worry and stress. I had a scan at around 36 weeks and Noel seemed small for gestational age and i also had excess amniotic fluid, this was blamed for the reduced movements, being told the waters was cushioning the movements but I wasn’t convinced. At this point I knew something was wrong.
14th December i went straight to the hospital, I had not felt Noel move for over 12 hours, I was panicked and scared that something had happened, thankfully he was okay but the decision was made to have me induced. On the 16th December I was admitted for induction but I didn’t give birth until the 17th in the evening, it was traumatic labour and birth and Noel struggled throughout the whole ordeal with serious dips in his heart rate. He was 6lbs 3oz and born at 39weeks and 2 days. He needed some oxygen after birth and was floppy.
5 hours after he was born he was rushed to the neonatal intensive care unit as he was not feeding, no suck reflex, was cold and very floppy. He didn’t even wake or move and never cried even at birth!
We was told he could have sepsis, and had many bloods taken, ng tube for feeding and a cannula for antibiotics. Took 3 days before he finally opened his eyes, but despite being poked and prodded he still never flinched or cried like you would expect him too. Finally, the day before Christmas Eve, we was discharged and was told the the hypotonia ( floppy) would improve. We went home without the ng tube but was re passed after a few weeks as he wasn’t gaining weight or failing to thrive as they call it. He slept for almost 24 hours a day and never asked for a feed. Doctors decided to do some genetic testing, never in a million years did I ever expect anything to be wrong! On the 3rd March 2014, when Noel was 11 weeks old, my husband took the call from Noels paediatrician telling us that the genetics came back with Noel having a deletion on chromosome 15, the result being Prader-Willi syndrome. We never heard of it and of course we went straight to google. My heart broke into a thousand pieces that day, the diagnosis came 2 days before my birthday. I was numb.
We saw a geneticist shortly after and the picture that was painted was gloomy and frightening.
The most awful part of the disorder is the insatiable appetite, usually kicks in between ages of 2 and 7 but can be beyond that. My little boy one day will never feel full. He will be permanently hungry.
Despite the gloomy picture, he is now 2 and is doing amazing! He has growth hormone treatment to help with growth, development and muscle tone. He is delayed in speech and can’t yet walk independently but he is very clever and had a wonderful personality. Noel amazes me every day and the strength he has is just inspiring. We have learnt to take things day at a time and have even changed our lifestyle for him, especially when it comes to food and diet. I’m proud to be his mumma and PWS doesn’t define him at all, in my eyes he is just perfect.