Introduction
To mark Carers Awareness Week 2025, Piws Director Sarah shares her powerful story as a working mother of three and parent carer to her 5-year-old son Ivor, who lives with Angelman syndrome. Her words shine a light on the challenges and joys of caring, while calling for greater understanding, awareness, and community support.
What is Angelman Syndrome?
Angelman syndrome is a rare neurogenetic disorder affecting around 1 in 15,000 people worldwide – approximately 500,000 individuals. It occurs when a vital gene on chromosome 15 does not function as it should.
This genetic difference impacts brain functioning, leading to:
- Significant intellectual disability
- Motor impairments
- Seizures
- Sleep difficulties
- Challenges with communication
While not degenerative, Angelman syndrome means individuals will require lifelong care and support.
Our Journey to Diagnosis
“I knew very early on, as a mother, that something was different about Ivor. Every milestone missed, every concern I raised, I was ignored. ‘He’ll be fine,’ everyone said.”
After years of chasing appointments and tests, Ivor was diagnosed with Angelman syndrome at age three. The diagnosis brought little guidance or support.
“The consultant gave me the life-changing news, handed me a tissue and the name of a charity, and waved me out of the door. That was it.”
Life After Diagnosis
The diagnosis didn’t change Ivor’s reality – or the challenges. But it changed Sarah’s world.
“I still felt sad, angry and confused. I had very little post-diagnosis support, and it’s been incredibly hard to find my way, practically and emotionally.”
The word “carer” was also a shock.
“The first time somebody called me a carer, I burst into tears. Nothing can prepare you for that when it’s your child who needs you.”
Day-to-Day Challenges of Caring
Sarah describes life as “the juggle” – balancing work, caring for three children, and navigating endless appointments, forms, and responsibilities.
“Ivor needs support with almost everything. He’s non-verbal, struggles with balance, and can be very physically demanding. Sleep is one of the hardest parts – often he’ll be awake for hours at night, which leaves me exhausted. Everything takes more planning, more effort, more money. Some days it feels overwhelming.”
Despite this, Sarah works hard to ensure her daughters feel supported too, and to keep her family life as vibrant as possible.
Emotional Realities
Perhaps the hardest part is the emotional toll.
“The grief never really goes away. I love my child, but I hate Angelman syndrome.”
Sarah describes feelings of anger, uncertainty about the future, and the constant weight of responsibility.
“I know I’ll be caring until my last breath, but I don’t know how. Will I ever be at peace with the card I’ve been dealt?”
The Joys
Yet there is light among the challenges.
“Ivor is an incredibly happy little boy, excited by life, laughing and cuddling his way through each day. His determination amazes me – he’s walked up Sugarloaf mountain and scaled the steps of the Senedd to raise awareness of Angelman syndrome.”
Family adventures may look different, but Sarah is determined that Ivor’s disability won’t hold him back.
“If you see me hauling a pushchair up a mountain – yes, I’m that crazy woman!”
Being a carer has also brought unexpected gifts: new friendships, compassion, perspective, and a deep sense of purpose.
Awareness and Community Strength
Sarah is passionate about sharing her story to help others understand.
“I don’t want sympathy – I want understanding. Don’t stare if Ivor shouts, don’t back off when he touches your face. Understand why I’m tired, why I fight for better recognition and support for carers.”
Community, she says, is key.
“Nobody understands better than someone going through the same thing. Together, we can build knowledge, support, and hope.”
👉 Join Piws’ Access Ambassadors here
Final Reflections
“There are huge challenges, but also huge joys every day – and that’s what keeps me going. With strength, love and a smile, everything is possible.”
Sarah’s story shines a light on the resilience of parent carers and the importance of understanding rare conditions like Angelman syndrome.
👉 To find out more about Angelman syndrome and research efforts, visit cureangelman.org.uk.
