Our amazing son Luca was born on 22nd April 2023, will a full head of bright blonde hair. The story to his diagnosis is lengthy, but we got a phone call from the hospital on Saturday 12th August telling us that he has a rare genetic condition called Prader-Willi Syndrome. Every parent’s worse nightmare is finding out your child may suffer in life, and the days after we got Luca’s diagnosis were some of the hardest days of our lives.

Prader willi Syndrome is a rare genetic condition, randomly occurring at conception which affects and alters part of the brain called the hypothalamus. Therefore it has effects on behaviour, development, sexual development and one of the main features of PWS is an insatiable hunger which develops in early childhood. Low muscle tone is also one of the main features of PWS, which causes feeding difficulties from birth and into early childhood. Every child with PWS is SO different because features occur on a spectrum, but Luca is likely to have development delay and learning difficulties, as well as physical difficulties due to the lifelong low muscle tone. At 1 years old he still has his Nasal Gastric tube for his fluids, but is an incredible self feeder who really enjoys his 3 meals!

We reached out to the Prader-Willi Syndrome Association UK as soon as we found out, and we got an instant reply arranging a phone call for Monday. Since speaking on the phone to Sheila from PWSA, I have been filled with hope and given the most amazing support we could ever wish for. We were given information packs on who the specialist doctors and teams were in our areas, put in touch with hundreds of other families who also have children with PWS, support with filling out medical and government forms for disability allowance. They also hold frequent support groups and zooms for parents and also educational ones of various topics, such as latest research and dietary advice for different age groups. And the support we receive will only continue as the challenges Luca faces change and develop.

We truely feel without the PWSA UK we would feel so lost, overwhelmed and not be able to have such a positive outlook on Luca’s life with PWS. The association has really been invaluable to our family. So please, donate anything you can, to not only continue to support us along Luca’s journey with PWS, but also future families that find themselves in the lovely, but lonely, little PWS community, so we are able to be well supported and educated, to give our amazing children the best and most full lives possible.

Thank you so much for the bottom of my heart,

Yasmin xxx

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