My experience in a nutshell…
Bethanie was born via elective section at 37 weeks due to me having gestational diabetes. She weighed just 6lb2oz, even though they’d estimated her to be a big baby because of the diabetes. I felt Bethanie move just as much as I did my first little boy, so nothing was suspected as wrong.
When she was born, she didn’t wake up at all. She didn’t move. Didn’t cry. She didn’t have a suck reflex to be able to feed, so the midwives were force feeding her by squeezing the bottle into her mouth. I demanded a paediatrician come check her out so 2 were sent down and I was told I was ‘lucky to just have such a sleepy baby’! Despite me repeatedly telling them there was something wrong they still sent us home after 5 days.
At 13 days old, the health visitor came to visit. Bethanie STILL hadn’t really woken up. I was still force feeding the bottles into her and she was so fragile and floppy. Upon telling the health visitor my concerns she checked her out and was quite concerned herself. She noticed Bethanie was really quite blue around the mouth so sent us to the doctor. The doctor checked her over and immediately sent us up the hospital.
She was taken from me by the doctors as soon as we walked through the doors of the hospital, and we soon found out that she was stopping breathing with apnea and was taken into ICU.
We spent 3 months in the hospital with her whilst they ran all their tests. I literally slept at her bedside for the whole time. Sleep studies, swallow studies, MRI scans, lumbar puncture… Just to name a few. She was on CPAP, Continuous Positive Airway Pressure. It is a type of non-invasive ventilation (NIV) or breathing support, and she was being fed through a tube. She was even given iv antibiotics just in case it was infection. The more that was ruled out, the more people and specialists were getting involved, then the more we came to realise it was more than just some sort of infection. Eventually genetics became involved, and we then knew it was something more serious.
The day I was taken into a private room and told Bethanie had a deletion of chromosome 15 was the worst day of my life. I was told NOT to google anything…. Of course, first thing you do is go away and google and the more we read up, the more obvious it became that it was Prader-Willi syndrome. I was devastated beyond belief. Google is cruel about PWS too. You’re told that they won’t walk until very late and even when they do, they’d probably still need a wheelchair for distance. They’ll never ride a bike. They’ll have severe speech delay etc everything about the diagnosis was just cruel. We were discharged on oxygen, an NG tube (Naso Gastric) that was changed to a G tube (Gastrostomy) around 5 months old and was then changed to a Mic-Key button, and a sats monitor for her sleep apnea. We got our official diagnosis around 2 weeks after being discharged.
Bethanie is currently doing great at 6 years old. She is still on oxygen, and she has now had her Mic-Key button removed since she has started eating and drinking on her own. She is walking (still needing her K-frame for distance) and although she can’t talk properly yet she is communicating in her own way. Her weight and height are perfect at the moment, and we take each day as it comes with regards to PWS. It’s hard not knowing what day it can all change but for now we’re enjoying every single day with our precious girl as a typical child ????????
I have recently been raising funds for FPWR UK. This is an amazing charity who are working hard and researching for a cure for the hunger that PWS experience every day. Imagine feeling the hungriest you have ever felt for 24/7/365?! That’s what our kiddies go through every day of their life! We need to find a cure ASAP