A 14-year-old girl weighs just two stone – the same as a toddler – because of rare chromosome disorder.
Dannia Shabbir – who wears the clothes of a six-year-old – has severely restricted growth and cannot talk or walk and has the care needs of a baby.
Her condition is so unusual it does not even have a name and doctors are unable to predict how it will continue to affect her as she grows up.
The disorder was unheard of in girls when she was born and had only been reported in four boys worldwide.
Dannia’s mother, Aleisha Almahari, says that despite her struggles, her daughter is ‘happy and content’ and always smiling – and she loves to see the delight on her face when she is fed ice cream.
‘Doctors told me they had never seen a baby girl born with this condition who had survived,’ she said.
‘Not only is her condition rare, but there is no other Dannia. She is such a placid child, she’s easy to look after. But it’s a full time job – it’s like having a baby.’
‘I felt like I had lost the baby’
When Aleisha, now 51, from near Southampton, fell pregnant in 2002 there were no concerns about her baby’s health until Dannia was born by elective caesarean section at 39 weeks.
‘The doctors knew straight away that something wasn’t right,’ she said. ‘She was cold and tiny and had low blood sugar.
‘Things were not quite adding up. It was all quite overwhelming, they tested my blood and her father’s. Within a day we had been told it was serious.’
It was discovered that Dannia had a chromosome abnormality, where part of an ‘inactive’ chromosome had broken off and joined onto another ‘active’ one, chromosome 20.
‘At the time of her birth, there were only four cases reported, and all were boys,’ Aleisha said.
‘They never seen it before in a baby girl and all sorts of things went through my mind.
‘Initially, I almost felt like I had lost the baby – all the things you think will happen when they are of a certain age seem like they won’t.
‘I felt so confused – I didn’t know what to do. I didn’t know if she was going to be completely lifeless.’
She has severely restricted growth and needs full care as she cannot talk or walk
‘She’s good as gold’
The remarkable little girl has been closely monitored by genetics specialists at Southampton Hospital, Hampshire, all her life.
Because of the rare nature of the condition, they do not know if the diagnosis will affect her lifespan – or if she will carry on developing.
Aleisha said: ‘She hasn’t reached puberty and doctors don’t know if she will. She depends on me for absolutely everything. She can only sit or lie there.
‘Dannia doesn’t go to school, I don’t want her to because I don’t think they could care for her. She’s as good as gold – she doesn’t have tantrums, she’s really easy going.
‘She’s got all her teeth although she was quite slow to get them. That doesn’t mean she can chew, as that comes from the brain.’
Despite her age, Dannia has not reached puberty and is still growing very slowly.
After being diagnosed with an ‘unsafe swallow’, she is restricted in what she can eat, and was recently operated on to have a tube fitted in her stomach.
But her mother sometimes gives her a little taste of ice cream or soup, as a treat.
Aleisha explained: ‘Eating in front of her breaks my heart – she watches you like a puppy.
‘She will just stare at you and watch it going into your mouth. It makes me feel really guilty.
‘We try not to eat in front of her – I hate it. If I am having soup I will give her a little bit. We don’t want her to lose her sense of taste or sensation on her tongue.
‘She loves ice cream and will have a big spoonful, but she can’t hold a spoon. If you’re having a cappuccino she won’t take her eyes off you.
‘She loves a frappuccino or anything similar to ice cream.’
‘She loves to snuggle’
WHY DO CHROMOSOME DISORDERS HAPPEN?
Chromosomes are very important structures within each cell in the body, which hold our genetic material.
Each human being has 23 pairs of chromosomes – 46 in total.
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.
Most chromosome abnormalities occur as an accident in the egg cell or sperm, and therefore the anomaly is present in every cell of the body.