When Mandy Davis learned more about the problems faced by her young son Harry, she was relieved.
What should have been a painful exerience was instead comforting because Mandy was finally receiving the support she needed.
And the bewildered mum was discovering all the facts about XXYY Syndrome – a condition that affects only one in 18,000 and one in 40,000 males.
Five-year-old Harry – diagnosed with the syndrome when he was a baby – lives with a huge range of symptoms including behavioural and developmental difficulties, allergies and joint problems.
In the future he could be diagnosed with autism, ADHD and further physical problems.
XXYY syndrome is so rare that mum-of-three Mandy had been living in the dark, unsure of exactly what the future held for little Harry.
‘When I first found out, I just went home and couldn’t stop crying. I hadn’t heard of it and nobody else seemed to know about it,’ says Mandy.
‘He was seeing doctors but I didn’t know anyone with this. All I had was a leaflet. I didn’t know what was going to happen.’
But when Mandy met other boys and young men with the condition at a specialist hospital in America, she felt the load lighten.
‘It was nice to meet other parents and children. The boys had loads of problems and some were more severe than others.
‘They’re really impulsive and say the first things that come into their heads. And that makes them really vulnerable.
‘But watching the other boys really opened my eyes. I now know what to expect when Harry’s older.’
Mandy, Harry and his older brother, Marcus, flew to Colorado to meet a specialist doctor and other boys and parents when Harry was just 18 months old.
They took the trip after months of fundraising which saw a terrified Mandy doing a skydive.
But that was a small challenge compared with the daily difficulties of caring for a child with XXYY syndrome.
As the 42-year-old mum tells her story at the family’s Portsmouth home, Harry and nine-year-old Marcus play beside her.
Marcus is amazingly patient with his younger brother and all goes well until Harry has a meltdown.
Then he’s screaming, pulling Mandy’s hair and biting.
‘He’s got that cheeky little face and makes us all laugh. But when this happens it’s really hard. It’s not like other children, you can’t just say no to them, it’s like a really big meltdown.’
XXYY syndrome is a sex chromosome variation. A typical boy has one X and one Y chromosome. A typical girl has two X chromosomes. A sex chromosome anomaly occurs when there are differences in the X and/or Y chromosomes.
Symptoms and conditions associated with the syndrome include behavioural problems, learning disabilities, delayed sexual development, low testosterone, poor muscle tone and joint problems, flat feet, dental problems. The list goes on.
‘When people ask me about XXYY syndrome and how it affects people, I say “how long have you got?’’’ says Mandy.
Not all of the symptoms and conditions affect Harry and some won’t be apparent until he’s older.
The biggest difficulties are Harry’s allergies, poor muscle tone – which affects his mobility – and the meltdowns, which are the reason for his long hair.
‘He won’t let me cut it,’ says Mandy.
Harry also suffers from sensory problems which means sounds are at a higher volume and subtle sensory shifts disturb him.
Mandy believes the humming of the freezers or changes in the lighting could have been responsible
for a screaming session in Asda recently.
‘I couldn’t do anything with him. And the trouble is people don’t understand and think he’s just a really naughty child. They’ll say things like “who’s a naughty boy then”. And I feel like they’re judging me.’
Mandy wants to remind people that there are children with all kinds of conditions that could be affecting their behaviour.
‘If you see someone really struggling, maybe ask them if they want some help. That would be really nice.’
In those situations Marcus is a great help to single mum Mandy, trying to tell people about XXYY syndrome.
That’s why Mandy has nominated him for a News Youth Award in the Star of the Family category.
Her eldest son Matthew, 22, has moved out but also helps out with babysitting.
The family adore ‘little Harry’ as they call him and the youngster gives them many precious moments and often fills his mum with pride.
There was the time Harry, who has speech problems, managed to sing Twinkle Twinkle Little Star in the car.
‘I didn’t know he could do it that well. I cried and cried,’ laughs Mandy.
Harry has had problems eating and swallowing and when a community nurse came to change a feeding aid on his tummy while he was toddler, he held his t-shirt up for her.
‘It meant he understood and trusted her. I was so proud,’ says Mandy.
Life is a challenge but those moments make up for it. And Mandy is no longer scared, now that she knows what’s in store and what help is available.