Although Jacob was born 17 years ago, some unhappy memories from those early days still remain etched in my mind. Little did I know how things would turn out – yes, there have been some very difficult times, but Jacob has far exceeded our expectations and his life is not what we anticipated based on the things we were told and read back then. We couldn’t see any positives at the time.

During my last trimester, Jacob was breech, not growing well, and I had polyhydramnios (excess amniotic fluid). It was still a little early so I was advised to finish work earlier than planned, to rest up, and to visit the hospital every other day for monitoring with CTGs. I didn’t worry too much at the time as I had half expected to have a small baby, and because he was my first baby, I was blissfully unaware that his little fluttering movements were nothing like the kick of a non-hypotonic baby. At 36 weeks and 2 days, I was on the CTG machine when Jacob’s heartbeat suddenly did a huge deceleration and then stopped for a while. I buzzed for the nurses who came, looked at the chart and called for the obstetrician. This all seemed to take time and I remember nobody seemed to be in a hurry and everyone seemed so calm, whilst inside my head was panic. When the doctor came, he said it would be better to get the baby out now. I was expecting our baby would be born that day by caesarean – we didn’t know that he wouldn’t be born until a whole 2 days later. (Yes, 2 days!)  Jacob had moved out of breech position and I was induced.

Jacob was finally born weighing 4 and a 1/2lbs (2.04kgs). That evening is all a bit of a blur as I was just so exhausted. I do remember looking at Jacob lying in the cot next to my bed and feeling confused – he didn’t look like the baby I had imagined and he was so quiet and still. It even crossed my mind whether they had put the right baby there. He didn’t seem to need feeding and I don’t recall being encouraged to try. We weren’t aware of any concerns.

Sometime later that night, Jacob was taken to the NICU due to his low blood sugar. I was wheeled to the NICU to see him but we were reassured that he would only be there temporarily while they fixed his hypoglycaemia. The next day I was taken to the NICU again and Jacob had been settled into another area, was dressed in different clothes and had been given a nasogastric tube for feeding. So much seemed to have happened whilst I had been sleeping – the nurses had it all under control and I felt a bit helpless. I was shown the room for expressing milk, provided with the equipment and so began the cycle of expressing, attempting oral feeds and tube feeding.

On Jacob’s 2nd day at the unit, I returned from the expressing room to see a group of doctors gathered around his cot. It was a teaching hospital and one paediatrician appeared to be showing and explaining something to all the others. He asked the nurses whose baby Jacob was and they pointed to me. He asked me where my husband was and suggested I tell him to come to the hospital. My next recollection is fuzzy because perhaps I didn’t follow much of what he said after this – he wanted my permission to take a blood sample and his explanation was vague. I watched from a distance whilst a group gathered around Jacob and began the very tricky process of squeezing his hand to get blood from his wrist, causing him to cry for the first time. It was upsetting to hear this new sound which was like the bleating of a tiny, weak lamb. Afterwards, I made my way to the hospital payphone to call my husband at work. I told him that the doctor had said there was something wrong and the impression I had come away with was that it was something to do with his genitalia. I told him I wasn’t sure, but the doctor may have been saying that Jacob was an intersex baby.

When my husband arrived, we approached the doctor on the ward and he informed us that he had tested for a number of conditions, then proceeded to list some of those – I recall that one was Down syndrome. However, it was clear to us that he had a definite idea of what he was testing for and that he was avoiding telling us. We pressed him further about his thoughts and that’s when we listened to the words Prader-Willi syndrome for the first time. We asked him to write it down which he uncomfortably did and told us not to read about it. I only heard snippets of the doctor’s extremely brief explanation – I heard the words life expectancy, obesity and mental retardation.

We spent some time in a shocked daze and then there were tears, but later on we both had a need to find out more and we hadn’t been given anything to digest. As this was before the days of smartphones, I needed to go home to use the internet. It didn’t feel right leaving Jacob at the hospital, but I needed to find out more and didn’t want my husband to read about it by himself. Once home, we spent a lot of time reading about PWS and the more we read, the more certain we were that the doctor was right in his suspected diagnosis. The information online in 2003 wasn’t very positive. It was only a couple of years since growth hormone had started being widely used and the stories and images were all of very obese individuals, parents struggling with behaviours, and life expectancy that was reportedly low. Jacob was never going to do this or do that. His future looked gloomy, bleak and cruel. Those first two weeks were a little surreal – I had started to develop a ‘I can do this’ attitude, but when the genetic test confirmation came through, it set me right back again – now it was real and frightening. (This rollercoaster has somewhat continued to date.)

After a while I was desperate to get Jacob home from the hospital. Jacob wasn’t able to breastfeed so I was encouraged to try a bottle before each tube feed. The focus seemed to be on getting him to feed orally as soon as possible rather than to persist with breastfeeding, and this also became our focus because established oral feeding appeared to be a prerequisite to him being discharged. The hospital seemed reluctant to let us take Jacob home with a tube in place, but after some frustrated words from my husband and some tube changing training, we were finally allowed to take him home at 3 weeks old. In hindsight, I think Jacob may have breastfed if I had been given the support to keep trying and there wasn’t the pressure to try a range of different bottle teats and to get the tube out as soon as possible. With my lack of experience and a lack of good advice, my milk supply also started to dwindle by 6 weeks due to not expressing enough, especially during the night when we would set our alarm for Jacob’s lengthy bottle and tube feeds, and feeding would take forever.

We were never given any more information about PWS. The geneticist appointment we eventually had was more of an opportunity for us to ask questions and they spoke to us briefly about Jacob’s genetic subtype and having more children. My husband joined email forums and was getting lots of information about starting growth hormone as soon as possible and using CoQ10. We pinned all our hopes on this. When we first saw an endocrinologist, we walked in armed with stacks of printed papers and with news of how children in the USA were starting treatment at 4 weeks old! She agreed that she would consider starting treatment, but not until 4 months, and our hopes of starting earlier were dashed. This was the beginning of what would be many battles for Jacob. In the end, his GH treatment didn’t start until well after 2 years due to sleep apnoea issues.

Things began to look brighter when we joined the PWS Association and read some books containing positive stories about babies and children with PWS. We met inspiring people when we nervously attended a national conference and I was fortunate to be able to meet with a group of mums locally, one of whom had featured in the collection of positive stories from the PWSA.

Over the years, Jacob has continued to surprise us with his achievements, determination, thoughtfulness, wisdom, independence, and his sense of humour. He enjoys being a big brother and teaching others what he has learned. We have also learned so much from him. I very much wish I had known what I know now from day one.