When mum Jade looks at her eldest daughter, Shana, the loving bond is overwhelmingly clear. There is a constant warmth in her voice as she chatters, gossips and narrates their passage through the day. For Shana, 21, cannot talk or walk, although she knows exactly how to communicate with her mum. They both regularly bend their necks together to nuzzle in.
Jade has waited 20 years for a diagnosis for when Shana was a baby despite several investigations doctors could not pinpoint her condition. Jade says: “I got used to not knowing and I learned to take each day as it came.” Finally, last year Shana was diagnosed with Pitt Hopkins syndrome (PTHS) a condition which is characterised by developmental delay, recurrent seizures, gastrointestinal issues, lack of speech, and distinctive facial features. Traditionally PTHS has been associated with severe cognitive impairment, however recently researchers have found true intelligence is difficult to measure given the children’s motor and speech difficulties. Indeed, thanks to progressive therapies, many families report their children can achieve much more than initially thought.
Although Shana has only recently been diagnosed, Jade has always maintained that she understands everything. Jade says: “I chat away to her all day. Just like I do with my other children. I have no doubt she understands everything. She just can’t verbalise it.
“Shana is so loving and gentle. She really enjoys being by the sea.” Jade had moved to Greece at the age of 18 because she wanted to go travelling and see the world. With a laugh Jade says: “My plans didn’t quite work out.” She was 19 when Shana was born and she fell instantly in love with her baby daughter. It wasn’t until a friend visited, when Shana was five months old that Jade started to question her baby’s development. Jade says: “My friend asked me gently if Shana was sitting up at all, whether she was rolling over. “Shana would just lie there. I thought she was so beautiful but she definitely wasn’t developing.
When Jade took her to her Greek doctor she was told that she was being an over-protective mother. “I knew then there was definitely something wrong and that I had to go home,” explains Jade. When she moved back to Northampton where she had grown up, the tests and scans began. “It was tough trying to come to terms with Shana’s situation. At that stage all doctors could say was that she was ‘failing to thrive’, says Jade. “It was scary as I was pregnant with my second daughter, Jazz, and I didn’t know if she was going to have the same condition as Shana.” Thankfully Jazz, 20, was born healthy, as was her son Ewan, 18.
Jade explains: “It might seem strange that it has taken me so long to find out, but Pitt Hopkins was only discovered relatively recently in 2007. There are only 200 people diagnosed with the condition in the UK. “Being a single parent meant I didn’t have a lot of support so I really learned to cope on my own.” The catalyst behind Shana’s diagnosis was when Jazz became pregnant in 2016. Jazz wanted to learn if her child could have the same condition as Shana. This time when Jade took her for tests, with medical advancements, doctors were able to diagnose Shana.
“Two days after Shana’s diagnosis there was a family gathering for PTHS sufferers,” says Jade. “We went along and it was amazing walking in and seeing so many other people who look just like Shana. “It does feel like she has her own little family now. There are about 350 people with PTHS in America and I think I’m friends with about 300 of them! “It is great to see so many of the children progressing with all the new therapies and developments around PTHS.”
But Jade does admit: “I do have to say I sometimes feel a bit envious and wish Shana had been diagnosed earlier. Then perhaps she would have been able to make the same progress.” Life is unquestionably challenging for Jade and Shana. They are hoping to move to accommodation with lift access. But for now they live in a three bedroomed house with no lift in Lewes, near Brighton. Jade has to carry Shana on her own up and down the stairs. Recently she fell down the stairs and hurt her back. She had no choice but to put Shana in respite care for five days. Now Jade has been presented with a bill for over £200 that she can’t afford to meet on her £62 a week carer’s allowance.
Despite all of the hurdles placed in her way Jade simply says: “Life is physically hard but Shana has taught me so much. I’ve learned to be patient and appreciate the smallest things that no one else even notices. “Every day she wakes up and greets me with the most gorgeous smile. “That unconditional love is amazing.” Indeed, it is.