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Jacob’s Diagnosis Story

Jacob was born in 2003. His parents were told very little about PWS and the information available online was often quite negative. Fortunately, things have changed with increased awareness and knowledge. Early diagnosis allows dietary and health strategies to be put in place, and with the right supports, those diagnosed with PWS today can live healthy, happy lives. Jacob’s diagnosis story is shared in the hope that a diagnosis is delivered in a more positive way.

Read Jacob's Diagnosis Story

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.

Hannah’s Story: Parent Advocacy

When Tommy was born in 2019, Hannah had to become his advocate to ensure he received the treatments he deserved.
Hannah’s story is an example of the need for a NZ health strategy for rare disorders, standards of care documents for PWS, and an accessible national centre of expertise for physicians. Both Tommy’s diagnosis and treatment with growth hormone therapy were slightly delayed, which may have reduced potential benefits that can be gained with earlier treatment.

Laura’s Story: The Early Years

Laura’s life plans changed unexpectedly when she discovered she was going to become a parent whilst studying at university. Her world changed again when her daughter was diagnosed with PWS.
Laura’s story is about her journey through these early years and the joy Amy has brought her.

Read Laura's Story

My beautiful daughter Amy was born in May 2009. I hadn’t known what to expect and had no pregnant peers or experience with babies and pregnancy to know that anything was wrong. She didn’t cry, she didn’t wake for longer than 10 minutes at a time, she didn’t suckle, and she couldn’t hold her head up. They kept us in SCBU at Hawke’s Bay Hospital, yet with nothing to compare her to I didn’t think to worry. She was diagnosed with Prader-Willi Syndrome at 11 days old. My world, already so different to plan, took another sharp turn.

I grieved the idea of the baby I’d lost; my baby who would be a mini-me, a singer, a performer, an academic achiever, the baby who would be a better version of myself. I was given internet print-outs detailing all the horrific aspects of my precious baby’s condition. She would be morbidly obese. She would have an uncontrollable appetite. She would have social and behavioural issues and struggle to make friends. She would be well behind her peers mentally and academically. She may not develop speech. She will have a much shortened life expectancy. She will not be able to have her own children. She will pick her skin uncontrollably. She will have dysmorphic features. I no longer saw my strawberry haired baby with her pixie features, but all the horrible things that she would one day be.

Her first year was marked by an ironic struggle to get her to eat and gain weight. I expressed milk for six months to bottle feed as she couldn’t suckle, feeling like I owed her every tiny advantage I could give her.

I withdrew from the world, my friends, and even my family. I didn’t know what I was feeling at the time, I now identify it as depression. I didn’t know how to deal with both having derailed my future and also having a baby who was different. I couldn’t relate to people who did have babies. They were generally older, and their children were achieving their milestones while my daughter wouldn’t crawl until 22 months. They had Plunket nurse visits while I had paediatric appointments and lessons in replacing her nasal-gastric tube. I didn’t know how to fit my baby into the narratives they all shared.

When Amy was 9 months old I went back to finish my degree in Wellington. This marked a sense of regaining my identity and control of my own future, but also the moment I began to see that my daughter’s condition didn’t define her.

She started to develop her own personality, she had a sense of humour and mischief in her eyes. She picked up baby Makaton (sign language) through the wonderful service Wellington Early Intervention Trust (WEIT). When she signed ‘sad’ to me when we saw another baby crying in the supermarket, I first saw the compassion and empathy she had for others. She loved walking with her walking frame, she loved her music therapy sessions, she loved meeting other children – her eyes held fascination and an ability and eagerness to learn that wasn’t defined by a diagnosis.

I ended up waiting until she was 6 to enrol her in school as I hadn’t found a suitable one. I had sleepless nights and was breaking out in a full body rash at one point over the sheer stress of the prospect of sending her somewhere she would be thought of as a nuisance. We finally found a little country school who rescued us. The first question the principal asked me was “so what would you need from us to make sure Amy was safe here?”. It took everything I had not to cry at that moment. It’s been the best fit I could have hoped for her. Through my daughter’s life, we have come across some amazing, caring, passionate people.

At 8, we are only really beginning Amy’s journey. Being her expert and advocate alongside the normal challenges of single parenthood and trying to have a career and my own life is an ongoing juggling act.

Amy is my life’s biggest challenge and, as is often the case, the biggest reward. She loves so completely, if you’ve ever been a friend to her then you’re a friend forever. She has a car game where she lists all the people she loves and who love her – and it’s a long list. She has a special bond with her grandparents on both sides, as they’ve been leant on heavily due to our age when we had her.

She makes me value people more, I’ve been exposed to so much compassion and empathy and selflessness from people who decided to care about her when it’s not their job. At every stage of her life I’ve met people who go above and beyond, trying to make up for the gaps in our support systems for our special needs children.

Early Years: Veronica’s Story

This video was recorded by Veronica’s family for the Asia Pacific PWS Conference 2021. Veronica is one of the younger children in a large family and her parents speak about any differences in raising a child diagnosed with PWS and any changes in their family life.

Childhood: Growing up with PWS

These recordings were made by families for the Asia Pacific PWS Conference 2021. This video tells the stories of daily life for 4 different children living with PWS in New Zealand, all aged between 9 and 12 years.

Adulthood: Our Stories

These recordings were made during Covid lockdowns for the Asia Pacific PWS Conference 2021. This video features James and Emma talking about graduating school, finding employment and their plans to live together, Shaun talking about his AMAZING 100kgs weight loss, and Bradley talking about how he has been successful working full-time at Kilmarnock Enterprises.