Girl, 6, diagnosed with condition so rare it doesn't have a name

Meet the schoolgirl who has been diagnosed with severe growth condition so rare it has no name - after being dwarfed by siblings half her age. Melanie Gardner, 34, was alarmed when she realised how much smaller her daughter Harlow, six, was than her peers while she played at nursery.

The worried mum of four and her husband, Peter, 37, a gym commercial director, took Harlow to the GP and she was referred for tests with specialists. The results revealed the little girl had a rare genetic mutation - a form of skeletal dysplasia, a category of disorder that affects bone and cartilage growth - in August 2022.

They were told Harlow's condition is so rare it has no name and she is the only known person in the world with it. It causes issues not only with her growth and mobility but she is fed through a tube - and is waiting for a kidney transplant as she is in kidney failure.

She is also at risk of developing issues with her lungs, heart, eyes and liver. But because her condition has no other known cases, doctors can't tell the family what her future looks like - or how long she'll live.

Melanie, a part-time bartender and Harlow's carer, from Portsmouth, Hampshire, said: "I took her to the doctor to be cautious but I just thought she was short because we're quite a short family. She was only four or five when the doctors found her gene mutation and they said there's nobody else out there like her.

"She knows she has poorly bones and kidneys, but she asks 'mummy, why is it only me?' - it's horrible. She copes so well but she's on nine medications a day and it's hard for her. And it's scary to think at any time something could go wrong, because there's no rulebook. Research needs to be done to get some answers for Harlow."

Harlow - who has three younger siblings, Parker, five, and twins Oakley and Hartley, three - had a normal birth and the family didn't suspect any issues until she was aged four. Melanie noticed in a video sent by Harlow's nursery in 2020 that Harlow was particularly underdeveloped compared to her peers.

She had originally put it down to them being a "short family" but went to the GP in January 2021, to be safe. After a hospital referral and scans, it was revealed Harlow had a rare gene which had mutated, the WDR19 gene, which both of her parents had unknowingly been carriers of.

The condition was so rare it has no name or other known patients - leaving doctors at three different hospitals baffled. Melanie explained: "We're basically 'riding the Harlow train' waiting to see what happens - that's what the doctors told us."

Now six, Harlow is less than a metre tall - the same height as her toddler siblings. They know Harlow is already in stage four organ failure and will require a kidney donation from Melanie - who is a match - at some stage.

The family have been told they can expect her eyesight to deteriorate and she has to eat and drink through a feeding tube several times a day. She is in pain when she walks due to how the condition affects her bones and joints.

Melanie said: "The children go out and play and she sits on the sofa. She sits on a bench at school because she can't run around with her friends and even walking brings discomfort for her."

She is also on a cocktail of daily medications as well as additional weekly and bi-weekly check-ups. But nobody - including specialists - can say how Harlow's condition will progress in the future.

Melanie added that despite Harlow's difficulties she is a "confident, sassy little thing" but has started asking difficult questions. She said: "She deals with it well but it takes its toll and she asks questions like 'why is it only me?'.

"She asked if she would die. It's horrible because I don't know what her future will hold. How much can one body tolerate? As much as I don't want to know the worst case scenario, because we don't have answers we can't prepare ourselves."

As the family wait for a date for the kidney transplant, they are campaigning for greater awareness and research into Harlow's condition. Melanie and her sister, Abigail Godden, 33, are undertaking the Three Peaks challenge later this year to raise money to support the family during the transplant.

Melanie said: "It's been really really tough, emotionally it's affected me a lot. Her condition is very dominating, everything is about Harlow. Because she doesn't really look like there's anything wrong with her, it makes it hard for it to sink in. When something is so rare and not understood it's also easy to dismiss - and when it doesn't have a name it's easily forgotten. It would change everything for us to get some answers."

A JustGiving page has been set up to raise money for Harlow.