The family of a woman who has a rare chromosomal disorder – meaning she is non-verbal, non-mobile, incontinent, and cannot feed or wash herself – have said they “wouldn’t have her any other way” as they aim to shine a light on the valuable role carers play in ensuring those with disabilities have “full, happy, and healthy” lives. Phoebe Newton, 22, was diagnosed with Pitt-Hopkins Syndrome – a rare genetic disorder characterised by developmental delay and distinctive facial features – when she was seven years old, and she is cared for full-time by her parents Sarah and Andrew, and her sister Chloe.
According to Pitt Hopkins UK, it has been suggested that the disorder occurs at a rate of about one in 225,000-300,000, which equates to approximately four in one million people. Phoebe, who is “very happy and affectionate”, was not officially diagnosed until 2008, but doctors first commented on her unique facial features when she was just one week old.
Sarah and Andrew later noticed that she was not hitting certain milestones, such as sitting up on her own, making eye contact, or interacting with others. Chloe said that “everyone stares” at Phoebe when they are out in public, which has been “one of the hardest things” for her to accept, but the family face many other challenges day to day, as Phoebe is “profoundly disabled with multiple learning difficulties” – she cannot speak, walk, or feed herself, and she is partially sighted.
The family explained that, to others, they may seem like “the perfect swan family on the surface”, but underneath, “all of (them) are kicking like crazy” to try to ensure Phoebe is healthy and “smiling”. They hope that, by sharing their story, the “role of carers can be boosted”, as “there’s nothing to say Phoebe shouldn’t live a full, happy, and healthy life” with the right support.
Chloe said: “It’s very easy to put Phoebe in a box on paper because you’re saying she can’t walk, she can’t talk, she’s not really giving much back. But we just want to do the best that we can because I genuinely don’t think it is horrible being her sister; I wouldn’t have her any other way.”
Sarah added: “For people who are as disabled as Phoebe, there’s nothing to say she shouldn’t live a full, happy, healthy life. The fact that she’s not mobile and the fact that she can’t say what’s going on in her body means that sometimes things get missed – that’s the only thing that’s going to shorten her life.
“She’s more likely to have her life shortened by something else, not by Pitt-Hopkins.” Sarah explained that she had a “totally normal” pregnancy with Phoebe and having her second child was “a dream”.
Phoebe was born in October 2000, weighing 8lbs 10oz, with no complications, but at one week old one of her doctors “made some comments about her facial features”. “It was an odd thing to say,” Sarah said.
“I just thought, she’s beautiful, why are you saying that?” Phoebe was “an easy baby”, but at six months old, nursery staff noticed she was not hitting certain milestones – and that is when “their journey began”.
“We just then went on with life, dealing with those delays, trying to keep the four of us happy and healthy – this is what our life is going to be – and just patiently waited for a diagnosis,” Sarah said. "But in actual fact, during those times, it was quite nice just letting Phoebe be Phoebe.
“Everybody looked at her as an individual in those early, scary days, and we were blissfully unaware and just living the dream.” The family, who are based in Northamptonshire, “bumbled along” until they received an official diagnosis of Pitt-Hopkins Syndrome in May 2008 when Phoebe was seven – a disorder they had never heard of.
Sarah mentioned that her and Andrew’s biggest concern was life expectancy – but after being told Phoebe can live a “full and happy life”, the couple felt they could deal with anything. “We just scrambled through life, and I was quite grateful that there was no life expectancy because I’m not sure I’d be able to deal with that side of it,” Andrew said.
“With Phoebe, we take it day-by-day; there’s nobody saying she’s only going to live until she’s 20 or 30, so, for me, it was a relief and we just carried on regardless.” Since Phoebe’s diagnosis, the family have had to make many adaptations in their home to accommodate her needs.
They have spent approximately £50,000, including grants, on installations such as ceiling tracking, which allows Phoebe to move around the house in a suspended hoist; a changing table which hangs over the bath; and a lift which moves between the kitchen area and her bedroom. Along with Phoebe not being able to walk or talk, she only eats pureed food and follows a strict diet; she struggles with reflux and constipation; she is partially sighted and has mild scoliosis; she is incontinent, meaning she has to wear nappies; and she had epileptic seizures.
Phoebe is on very little medication, but physio is extremely important in order to keep her “fit and well” and she stands up everyday using an adult walking frame and a stander, and has splints to support her ankles. She enjoys visiting her day centre, going outside in her three-wheeler buggy, and swimming, and will often “smile” when participating in a particular activity or conversation, but one of the most difficult aspects for the family is communication, as she “has never spoken any words”.
Sarah said: “I think everyone has the right to be able to communicate, so we have to do everything we can to give her that opportunity.” Chloe added: “She’s never going to have a conversation with you… but you’ve just got to keep trying, to see what she likes, and if something’s making her smile, then keep doing it.”
While the family face many challenges in looking after Phoebe, they work together as a “really tight unit” and occasionally receive respite care. Sarah is Phoebe’s full-time carer and no longer works, as she requires 24/7 care, but this allows her to help Andrew and Chloe juggle multiple roles, as they both have full-time jobs.
Chloe said she is always happy to help to give her mother some time to herself, and Andrew helps with night shifts after work – but one of the most challenging aspects of care is “the relentlessness”. “It’s not going to change,” Chloe said.
“It’s not like, with my little boy, I can think, ‘oh, in a couple of years, he’ll be feeding himself’… it’s always going be like this with Phoebe. But that’s my sister, I don’t know any different and that’s just the way she is.”
The family said Phoebe is like “a 22-year-old in a baby”, but they are very grateful she is not in hospital and they feel that Phoebe has brought them even closer together as a family. Their “family bond” keeps them going and they believe that the key is “being open and honest and talking to each other”, as well as “not worrying about things you can’t change”.
They hope to raise awareness of Pitt-Hopkins Syndrome and reassure carers that they are not alone and are appreciated, as they believe their “best bet for Phoebe’s future is that carers are valued and recognised”. “If someone else did get a diagnosis and saw our story, I think that would be so positive because they’d be able to see it’s not all doom and gloom,” Chloe said.
“Having a sibling with disabilities isn’t the worst thing, it’s the best thing that could have happened. There is always someone that’s got it harder than we have.”
Sarah added: “I am passionate, especially now we’ve come out of education and we’re in the care system, in the role that carers play. Our biggest hope for the future is that the role of carers can be boosted, that they’re valued, so therefore, that will give us the confidence that she’s in a system that is not broken.”
For more information about caregiving and available support options, visit TENA’s #NoLoveLikeIt Carers Support Hub: ena.co.uk/familycarer/carer-support/no-love-like-it
To find out more about Pitt-Hopkins Syndrome, visit: pitthopkins.org.uk/
