Portsmouth’s Spinnaker Tower to be lit up for Worthing toddler with Phelan-McDermid syndrome

Two-year-old Willow Taylor was diagnosed with Phelan-McDermid Syndrome (PMS) last October – a rare genetic condition that causes developmental and speech delays.

According to the PMS Foundation, it is caused by a deletion, or loss, of the terminal segment of chromosome 22 – also known as chromosome 22q13.3 deletion. Individuals with PMS often can have autism spectrum disorders and the severity of symptoms is wide-ranging.

There are more than 300 families who are diagnosed with PMS in the UK and Ireland, and almost 3,000 registered cases worldwide.

Among them is Willow from Worthing, whose mum, Sophie, said the diagnosis was a ‘massive shock’.

She added: “It was just completely not expected at all. It's life-changing.

“We are learning everyday about how we can help our daughter to strive to be the best she can be. Her smile is very infectious. She is sprinkled with a bit of magic dust, charming everyone she meets.”

All people with PMS have difficulty communicating; many are non-verbal, have issues around cognitive development and mobility and most have low tone in their limbs. All people diagnosed with PMS need additional care to support their daily lives.

Sophie said ‘there is no cure’ for PMS but research is ongoing through the AIMS-2-TRIALS.

For Willow, her mental age is that of a child aged ‘six to seven months’, Sophie said.

She added: “With motor skills a child would easily pick up and do naturally, we need to concentrate on them more and work on things to help her improve.

"She has just learned to sit and she’s just over two. It’s been a real struggle. We are trying to come to terms with the diagnosis.

“You take all these little things for granted but when it comes to Willow, you treasure every moment and every minor thing she is able to achieve.”

Willow is being supported by Dame Vera Lynn Children’s Charity in Cuckfield and Whoopsadaisy in Brighton.

Staff have helped Willow learn how to sit and develop her motor skills.

Sophie said: “These charities are a lifeline. They’ve been working on a lot of sensory things and issues that are another whirlwind to understand. They are educating me and seeing how I can help at home.

“We’ve had loads of support but there’s been times when I've felt there’s a gap in the market for everything.”

Now, the family wants to raise awareness.

Sophie said she had ‘spoken to one person who has heard of the syndrome’, adding: “It’s similar in a way to other syndromes but when I mention it to people they’ve never heard of it. Even doctors and professionals.

“My close unit friends and colleagues know about it now but it would be nice to spread that to bring awareness to see what we can do to help make things easier and help people get diagnosed.

"It’s also to support the foundation because it is so small, unknown and rare.”

Once per year, the PMS Foundation holds an International Awareness Day to help educate the community.

Sophie said: “Our family is participating in the Shine Green campaign – an effort to light up the world to show support and solidarity for all affected by Phelan-McDermid syndrome.

“Awareness Day is October 22 and I have arranged with the Spinnaker Tower in Portsmouth to shine green to support us and share awareness. And PMSF UK are going to send us tops to wear there, to share awareness too.

“We have family members all over going to different locations like Sunderland. We found out about the diagnosis the day before PMS awareness day. That will bring back a lot of memories for us.”

"When asked what advice she would give to other families facing a PMS diagnosis, Sophie said: “I’d say to reach out to families and local groups. Talking to people about PMS and educating people helped me come to terms with it more. That definitely was a massive factor.”

See also: Busiest GPs in the Worthing, Littlehampton, Shoreham and Lancing areas: The surgeries with the most patients per GP, according to new NHS figures

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