In September 2023, on a sunny and supremely hot day, we welcomed our little boy, Rían, into the world. Everything up until that week was routine. We had a planned c-section because Rían was breech—just like his brother.After a few years of trying, Rían, our rainbow baby, arrived. Our family was finally complete. We were overjoyed and excited for the life we were planning.During routine checks, nurses noted that Rían seemed unusually low-toned. He struggled to wake up and feed, which we initially chalked up to newborn sleepiness. But as days passed and his cries never came, a nagging feeling in the pit of my stomach told me something wasn’t quite right.On day three, a consultant and four nurses pulled me into a private room where Rían lay on the assessment bed. They closed the door—never a good sign. They calmly asked what I thought about Rían. When I shared my concerns, they agreed and suggested sending him to the Special Care Baby Unit (SCBU) for monitoring and feeding. My normally calm exterior crumbled in heartbreak.This wasn’t the start we had imagined.For ten days, Rían underwent a series of tests. His tiny heels were scarred from all the blood draws. It was tough when he didn’t cry as nurses pricked his heels - I would later understand why. Tubes were attached to his tiny body as he lay motionless in the baby cot, monitors humming and beeping in the background.Most of his stats came back fine, but we anxiously awaited the genetic test results that could explain his low muscle tone. Ten days after admitting him to SCBU, our lives changed forever.I didn’t know much about his diagnosis at the time. I remember feeling profoundly sorry for him when I learned that one of the significant symptoms was never feeling full. In my typical manner, I set about the list of things I needed to do. We were determined to give him the best possible outcome, despite everything.Prader-Willi SyndromePrader-Willi Syndrome (PWS) is a rare genetic disorder occurring randomly in 1 in 15,000 births. It’s a defect in the hypothalamus, which Produces hormones, regulates growth and appetite, and is incredibly complex.In infancy, it’s characterised by low muscle tone, leading to ‘failure to thrive’ due to the baby’s inability to feed. It can sometimes cause respiratory issues because the muscles aren’t developed enough to help the baby breathe or move food. For the first few months Rían came home with a nasogastric tube for his feeds and we monitored his oxygen levels closely. Chest infections are common with these babies due to the increased risk of aspiration, where liquids go down the lungs rather than their throat to the stomach.He never cries, until in extreme pain - this is due to an incredibly high pain threshold which means we often won’t know something is seriously wrong until it’s almost too late. His baseline temperature is lower than normal, so what would ordinarily be a normal temperature is in fact high for Rían.Excessive sleepiness is also a symptom, which can make feeding rather difficult. In the first few months we had to set an alarm through the night to ensure he was fed - he never woke up during that time. This coupled with a lack of crying made things incredibly difficult. A different exhaustion kicks in.Children with PWS often experience delayed development due to their tone and sleepiness. Some are also autistic. As they grow older, they may face behavioural issues and, most cruelly, an inability to feel full (hyperphagia), leading to overeating and potential health problems like obesity and diabetes.The list of symptoms is long, but the hardest part will be controlling their diet. Children with PWS will act like they are deprived of food. Denying them food saves their lives, but behaviorally, they can’t rationalise that.Imagine being a parent whose basic instinct is to feed their child when they’re hungry, and how heartbreaking it is that your child thinks he is starving, and you can’t give him food because his brain is malfunctioning. Giving him food could ignite a fire that could be detrimental to him.Hope and HelpCurrently, there is no cure for Prader-Willi Syndrome. The only treatment for PWS patients is Growth Hormones, which they are known to be deficient in. This helps with body composition and developmental progress.Several drugs are currently on trial to assist with various parts of the syndrome. The most exciting is DCCR, a drug that helps lower hyperphagia, which was granted special priority this year as it goes through FDA approval. There is a lot of hope, but we have a long way to go in tackling all the difficult aspects of this syndrome.Care for individuals living with PWS is still really inconsistent. Resources to help families navigate this condition while maintaining their own well-being, especially the mental health of parents, still need a lot of focus.Research into ways to help manage and potentially curb the behavioural issues associated with this condition is still lacking.Positively, many individuals with PWS are living much longer, but there isn’t much research into supporting these individuals as they age. As more treatments become available, we will see more individuals living longer and closer to normal lives.The Importance of SupportWe are in a promising era for PWS, but we have a long way to go. We can’t promise these kids and families a better life without your help.During our darkest days, the Prader-Willi Syndrome Association UK was there for us. Through them, we found other families, and for Pete, being able to speak to another dad going through the same thoughts was life-saving.As we move to the next stage, the association will help us navigate life with nurseries, schools, health system and beyond.For our future, research holds the key to Rían living the fullest life possible. The Foundation for Prader-Willi Research UK operates solely on donations and the efforts of volunteers, often parents of PWS children who also work full-time whilst trying to care for their child. Their remuneration comes from finding treatments, therapies, and hopefully one day, a cure.There’s a common saying among us that progress with PWS isn’t measured in milestones but in inchstones. Moving forward might be small steps, but with each one, we collectively make incredible strides.More than ever, we need your help and support to not only donate but to continuously raise awareness, so that our babies aren&#x27;t forgotten as they grow older and we&#x27;re no longer around to fight for them.If you wish to learn more about this syndrome visit: -www.pwsa.co.ukwww.fpwr.org.ukFor quick reads on the symptoms, you can follow:-go_orange_for_pwshttps://www.instagram.com/go_orange_for_pws/https://www.instagram.com/foundationforpraderwilliuk/And follow Rían&#x27;s progress, follow: -the_other_colourshttps://www.instagram.com/the_other_colours/The future for RíanWe are incredibly hopeful that when the next stage comes we will have treatments in place to help him live a somewhat normal life.Care for Rían will be ongoing, with residential care a huge possibility. As our eldest starts school, we&#x27;re cognisant of the new challenges and life lessons he will learn. For Rían that could look really different, especially as he grows and becomes more aware of himself and those around him. This condition can be incredibly cruel and Rían is completely innocent. The challenges he faces to just lead a near normal life are already stacked sky high for him. If donating isn&#x27;t something that you can do right now, we completely understand. We just ask that you inform yourself and your kids so he is faced with kindness in his life and forgiveness.We only hope that come the time, you will see only his beautiful smile and the cheekiness that lights up our lives. Thank you ever so much, Maggie, Pete, Fíonn and Little Rían

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