The Phelan-McDermid Syndrome Foundation UK (PMSF UK) provides a supportive, inclusive community for families affected by Phelan-McDermid Syndrome (PMS), a genetic condition which affects speech, cognitive development and mobility.
Four-year-old Ivy-Rose Wheeler was born with Phelan-McDermid Syndrome (PMS), a rare genetic condition which affects her vision, cognitive development, mobility, feeding and causes epilepsy. She has complex needs and requires round the clock care from her parents, but Ivy-Rose is never happier than when she is in the water or playing with her sensory and musical toys.
Her parents – Inez Sheldon, 25, and partner Andrew Wheeler, also 25, a landscape gardener, received the diagnosis when Ivy-Rose was seven months old, after their daughter failed to meet milestones and experienced frequent seizures. Genetic testing showed Ivy-Rose had a part missing of a segment of chromosome 22, otherwise known as 22q.13.3 deletion or PMS.
Inez, from St Austell, Cornwall, says: “We were relieved to have a diagnosis, but we were heartbroken. When you have a baby girl, you imagine one day she’ll get married, Andrew will walk her down the aisle. We had to, quite quickly, come to terms with our new life and get on with it.”
The hardest time for the family came when Ivy-Rose was 18 months old and became dangerously ill with severe epileptic seizures. She was put into an induced coma in intensive care, fighting for her life. She recovered but lost her sight and is subsequently registered blind.
Ivy-Rose is now four and attends a special needs school two days a week, where she is thriving. The family also visit a children’s hospice where Ivy-Rose can use the sensory room, enjoy music therapy and the family use a jacuzzi with her and have lunch. The family home has been adapted with hoists and an accessible shower room to cater for Ivy-Rose’s mobility needs – which has transformed the family’s quality of life. This summer a lift is due to be installed.
Inez says: “Ivy-Rose is honestly so content and happy. She is amazing, so beautiful. Although she can’t see, and is non-verbal, you can look into her bright blue beautiful eyes and they tell you stories. Every day can be hard for her but she brings so much joy.
“Ivy-Rose absolutely loves the water and music. She loves sensory stories and can press a button to make her toy puppy bark. She loves being outside and is happy around people. At home we have sensory toys, fibre optic lights and her favourite toy of all, a swing in her bedroom. As soon as we push her in the swing we get the biggest smile.”
There are approximately 300 people in the UK registered with PMS. For those families, the charity PMSF UK – which receives a grant from funds raised on Jeans for Genes Day – is a lifeline. PMSF UK provides financial awards to families to help with the cost of equipment, for therapy, days out or carers.
Ivy-Rose’s brother, Harvi, seven, received a sibling award to pay for a weekly gymnastics class. It meant that once a week Harvi could enjoy an experience just for him and was precious time spent with one of his parents.
The charity also runs days out for families, provides information and a support network. It hopes to get back to the large family days which ran before the pandemic. Their first regional family day will take place this September in London.
“The last two years of the pandemic and the isolation that brought have been really challenging for the disabled community,” explains PMSF UK trustee Alison Turner. “With PMS, families cope with a lot of medical issues with their child – from breathing issues to gastro-intestinal problems, poor communication, global developmental delay, a very high pain threshold and low muscle tone. They need someone to talk to as the condition is so rare and complicated. Our family days are important for sharing experiences. Very little has to be said when you meet up with another family who you can see is similar to yours. It is often where you learn the most.”
Alison adds: “With support from Jeans for Genes we were able to bring over 60 families together from the UK, Ireland, Greece and the United States, including the American geneticist Dr Katy Phelan for our 2019 conference. We will get back to the big family day – it’s a big morale booster for the families.”