COLLEAGUES USED TO describe me as organised. Finding myself in labour eight weeks before my first baby was due, with a month still left at work, and without even a Babygro bought, was not like me.
I had completed just one antenatal class. Its focus on baby equipment, specifically buggies, left me feeling entirely unprepared to give birth.
I wasn’t prepared for the subsequent 18 years either.
Louis was diagnosed with Prader-Willi syndrome in 2004, a month after he was born. He had arrived a “floppy” baby in University Hospital Galway and spent months in intensive care. The diagnosis came as a relief. Although everything about Prader-Willi syndrome sounded terrifying, at least we knew what we were dealing with.
If I had to choose a single adjective to describe my experiences since then, that word would be “intense”.
In those early years, Louis attended hundreds of medical and therapeutic appointments. He needed support from orthopaedic, endocrinology, respiratory and paediatric teams, as well as speech therapists, dieticians, physiotherapists, and occupational therapists.
The intensity of our appointment schedule was matched by the intensity of seeking appropriate services.
The wins along the way
I also experienced intense joy and pride at Louis’ achievements. At three, he began to walk. Before starting school, he learned to read. I basked in the warmth of his affectionate, fun-loving, and good-humoured personality. His constant giggles meant he was always easy to find during hide-and-seek. He smiled and waved at strangers and attracted positive attention wherever he went.
Our home life would change again with the arrival of our daughter, Annie. My husband, Brian and I struggled to give her adequate time and attention while meeting Louis’ needs. Unfortunately, there is almost no research on the impact of Prader-Willi syndrome on siblings, although one small study found that 92 per cent experienced moderate to severe symptoms of post-traumatic stress disorder.
Over time Louis’ needs have changed. There were surgeries for various issues. He developed scoliosis and wore a back brace for nine years. He was diagnosed with sleep apnoea and prescribed a breathing device. He was diagnosed with autism.
There was also worry about the future. A key characteristic of Prader-Willi syndrome is hyperphagia, an extreme and incurable drive to eat. This, coupled with the reduced calorie needs of people with Prader-Willi syndrome, frequently leads to life-threatening obesity unless access to food is strictly controlled.
At the age of nine, Louis asked us to lock the kitchen so he would not be tempted to take food. His school also began locking away lunch boxes in his class to keep him safe and reduce his anxiety.
New behaviours that caused challenges also emerged. Psychiatric appointments were added to our schedule. All knives, razors, scissors, the iron and other items that might cause harm are now locked away too. We started locking windows and stopped using candles and having open fires.
Although the relentlessness of Louis’ support needs is exhausting, there are frequent moments of joy. We are daily walking partners and have our best chats while in motion. His sense of fun in his early years has survived his many challenges and we still laugh together.
Living with Prader-Willi
Now, having turned 18, Louis continues to achieve his goals despite unnecessary suffering due to shortcomings in our health services. Last November he completed his Grade 4 piano exam.
He has postponed Grade 5 as he is expecting spinal fusion surgery for his scoliosis. Eight months later, Louis remains on a waiting list. When standing in certain positions, he has to hold his side to ease the pressure. His spinal deformity is visibly worsening.
In February we received the wonderful news that Louis has secured a residential place for people with Prader-Willi syndrome in Wexford. He will soon take up residence in one of six apartments where he will receive one-to-one support to enable him to live as independently as possible.
Louis is enthusiastic about the prospect of a life in which he can grow as an adult without being solely reliant on us for support. Although I will deeply miss seeing him every day, I am excited both for what lies ahead for him and for the rest of the family.
I want my daughter to experience life in a house without the stress of having to constantly lock away food, worry about meltdowns, and operate by strict schedules. In relative terms, I feel that I have neglected her, and I want to make up for that now.
My husband and I have not spent a night away together in over 12 years. It would be wonderful to be able to take a holiday or even go out for dinner together.
Proud of my son
In May, Louis graduated from school and, as he left, the staff formed a guard of honour to applaud him. Maybe a part of the reason they did this was that they recognised the challenges he faces. Mostly, however, I think they did it because they liked him.
Fundamentally, Louis is a kind person with great potential. He wants everyone to have their needs met and to make people happy. He believes that those who have more than they need should share with those who have less. He has an enviable ability to move on from past challenges and to face each day with positivity.
This year I’ll attend the International Prader-Willi Syndrome Organisation conference, being held for the first time in Ireland. I know a lot more about Prader-Willi syndrome now than back in 2004, but I still have much to learn.
Louis will attend too as long as the dates don’t clash with any of the exciting activities he has planned in Wexford. I am happy that he is choosing his own path in life.
Written by Marguerite Hughes, mum to Louis. To register and view the programme for the forthcoming International Prader-Willi Syndrome Organisation conference, co-hosted by Prader-Willi Syndrome Association Ireland, taking place in the University of Limerick from 6 to 10 July, visit www.pwsai.ie/ipwso-conference.
To embed this post, copy the code below on your site
have your say