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. She wasn’t thriving at all. Even to get a small amount of food into her was a challenge. She was exhausted all the time and over the months she did very little other than sleep. The consultant at the Brompton Hospital said we would see an improvement after the heart surgery. We thought once we were past the surgery that was it.”
Before she underwent the surgery, at just four months old, doctors at their local Southend Hospital spotted signs of a genetic disorder.
Darren says: “It was pointed out she had a low nasal bridge and a high palate. Then the paediatrician asked if we had genetic problems in our family, which we don’t.” The surgery shortly after was successful and Kellie, 36, a hairdresser, and husband Darren, 41, a graphic designer, did see an improvement in Eden’s energy levels. She was delayed in her development but this was put down to recovering from keyhole heart surgery and her stays in hospital.
Genetic test results came back when Eden was seven months old. She had the very rare genetic disorder Phelan-McDermid Syndrome (PMS).
Kellie adds: “When we heard the news we didn’t realise what that meant. It wasn’t until we came home and read about it online that we understood. That’s when our world fell apart. It was devastating and a big shock. You never think this will happen to you and when you read those things you just think the worst.”
Children with PMS have difficulty communicating, often no speech, intellectual disability, and low muscle tone which affects mobility. They also have impaired motor skills and share similarities with autism. For Eden, the genetic disorder was caused by a ‘spontaneous mutation’ – no one else in the family has this chromosome deletion.
PMS is caused by a deletion of the SHANK3/ProSAP2 gene on chromosome 22. For this reason the original name for PMS was 22q13 deletion syndrome. No two children with PMS are affected the same. Eden has a large deletion on chromosome 22. She is severely developmentally delayed but the family will not know the path of her progression until she is older. Since her heart surgery she has had no other medical problems.
Kellie says: “Eden is three now and has no speech but she is very noisy. She doesn’t walk but she can get around in a snake like move. She can sit, but she can’t sit herself up from lying down. I would love her to walk next to me but she can’t and is still in a buggy. We effectively have a three year old baby. We feed her, change her nappies, carry and move her.
“Eden is outgoing and likes social interaction but she has a bit of a temper – a red haired fiery personality as Darren says. We hope this determination will carry her through her life and challenges she may face. She is one of the happiest people we know, with the sweetest smile and infectious laughter. She can’t help cheer you up when you are around her. She can now enjoy a game of throwing with a ball. She likes going for a walk in her buggy. She is a big eater. She loves watching TV. She likes tickling and any type of anticipation game and playing with us.”
Eden currently attends a mainstream nursery and will go to a special needs school when she starts Reception class. As Eden’s condition is not hereditary, the couple were told the chance of having another child affected by PMS is only 1%. It was a hard decision to add to their family but Kellie and Darren now have a new arrival – little sister Daisy who was born weighing 7lb 7oz on the 29th awaiting tests taken on the umbilical cord to rule out PMS.
Kellie says: “Eden’s condition came out of nowhere so we are optimistic for Daisy. We can already see huge differences in the way that Daisy behaves compared to Eden at the same age. We are fully prepared for Daisy to progress and overtake Eden.”
Doctors are unable to give the family a prognosis for Eden, but an early diagnosis has meant they have been able to access services, from physiotherapy to speech therapy and they have been well supported by the NHS.
Darren says: “It is a happy by-product of the journey that we have met such nice people who help us with Eden. PMS is such a rare condition that often we know more than a lot of health professionals we meet.
“The main charity is based in the US so this grant from funds raised on Jeans for Genes Day will mean that the UK Phelan-McDermid Syndrome Foundation can launch a UK based website which will be a very useful knowledge base for the families in Britain. “Kellie and I are very positive people. We are not mourning or filled with hate about the condition. Caring for Eden has taught us a different approach to life. We feel lucky and blessed to have Eden.”