PMSFUK - Phelan McDermid Syndrome Foundation UK

Case Studies

Birdy McVennon

Looking at our beautiful daughter it is hard to believe she has Phelan McDermid Syndrome. Birdy is verbal, walks and has never wet the bed! Birdy was 5yrs old when she was diagnosed with PMS. She had several tests done at the hospital due to Birdy not meeting those magical milestones. Birdy was 4 months into starting at the local main stream school with her big brother, when we received a hospital appointment, for what we thought would be a quick catch up on Birdy’s progress. As we settled down ... Read More

Emel Curran

My daughter Emel has Phelan McDermid Syndrome and is already 16 yrs old! It's hard to remember back 16 years, but what stuck in my mind was Emel had no desire to communicate in any way and this made me very sad. I always felt bad that Emel might want a drink, a toy and I wouldn't know, so I had everything accessible for her till I was told you are not giving her a reason to communicate, she has all she needs. So I got tough and my life of ... Read More

Dan Barclay’s Transition to College

My son Daniel wasn’t diagnosed with Phelan-McDermid Syndrome until he was 17 years old. He also has a heart condition which resulted in open heart surgery in 2007 when he was 14 years old. He struggles to communicate verbally and uses mixed up speech and Makaton or picture symbols when frustrated.   Familiar people tend to understand what he is trying to say. He started at a special needs school at 3 years old and still accesses a SEN college now he is 22 years old.   We live in Leeds West Yorkshire where ... Read More

Mobility and Phelan-McDermid Syndrome

Victoria Feddersen and daughter Emily.   Emily, (4) our youngest, has Phelan-McDermid Syndrome (PMS). She was diagnosed at 12mths but before we got her diagnosis there were a number of signs, along with many other characteristics of PMS, that she had difficulties with her mobility.   Emily was having a lot of difficulties moving when she was very small and meeting the usual mile stones from birth were a challenge for her. At first this was obviously quite worrying for us as parents that our baby girl was unable to do the basic movements ... Read More

Sleep and Phelan-McDermid Syndrome

By Kat Pond   Bastian was born in 2008 and is the youngest of three children. His older siblings are ‘typical’.  Bastian was a happy baby who appeared to be in good health. We first noticed that something was wrong when he was about three months old. He was floppy and wouldn't bear weight on his legs. Everyone just believed he was a late developer because he was lazy. We really had to push for help and so began our journey of hospital visits, blood tests, MRI scans, appointments, assessments, therapies and ... Read More

Sharon and Annie Nealgrove

Annie is a very happy, cheeky 10 year old who loves getting into mischief and doesn’t let any of her difficulties stop her from doing the things she wants to do. Annie has a sister who is 20 years older, a brother-in-law and a 3 year old nephew, she loves all of them dearly.   We first started to notice Annie was a slow developer when she still couldn't sit up unaided at almost 11 months old and could not crawl on all fours but I didn't really take too much notice ... Read More

Sebastien Pettitt, aged 4, Lincolnshire

Most babies do very little when they're first born, apart from eat and sleep. So, when Dominique Pettitt realised that her infant son Sebastien literally couldn't fall asleep, she knew something was seriously wrong.   “He'd just lie in his cot, wide awake. Most babies fall asleep instinctively, but Sebastien simply couldn't,” explains Dominique. “My other son, Leon, was nine months at the time and his behaviour was completely different.”   It wasn't the only issue troubling Dominique, 42, and her husband Steven, 48, about Sebastien. Their son didn’t hold eye contact or engage ... Read More

Pronoy Bagchi, aged 4, London

Going down a slide at the local park is one of Pronoy Bagchi’s favourite things. As he slides down, his beaming smile shows just how delighted he is. But while most four-year-olds will pick up straight away exactly what a slide is for, Pronoy’s mum Jaya Pal has had to show him over and over again.   Pronoy needs repetition to grasp a concept and in a similar way to autism he finds it hard to understand the world around him. He doesn’t speak, so communication and interaction with other children is ... Read More

Eden Littmoden, aged 3, Rayleigh, Essex

When Eden Littmoden was just four months old she underwent heart surgery to correct a problem with a faulty valve. A valve that should have closed at birth had stayed open and this meant every time her heart beat some of the flow of blood pumped back towards her lungs. One side of her heart was enlarged. When upset Eden often held her breath and would turn blue.   Mum Kellie says: “Eden was tiny when she was born, just 5lb 7oz . She fed very little and failed to gain weight. ... Read More