Rare illness means Melissa is one in 6.6 billion

WHEN Melissa Quinn's parents look at her and say there's no-one else like her in the world, they really are being serious.

For while the ten-year-old appears like any other healthy young girl, in reality she suffers from an illness so rare that no-one else on the planet - despite an estimated population of 6.8 billion - has it.

Doctors in Edinburgh have even provisionally named the condition, caused by a rare chromosome disorder, after her.

The girl from Midlothian, though looking healthy, has a range of learning disabilities as a result of the "microdeletion" of one of her chromosomes.

It was only diagnosed last year, bringing to a close a painful journey for her parents Gillian and James.

And while they are proud that their daughter is "truly one of a kind" the mystery surrounding her condition is causing them extreme anxiety.

Charities have also highlighted their plight, saying the Gorebridge couple have the "double whammy" of having a disabled daughter and no clue about how her condition will develop.

Mrs Quinn, 34, who has recently returned to university to study human biology, said: "It was difficult never knowing what was wrong.

"She had hearing loss, but that is common in the family so thought that may be it, but then she kept missing milestones as she grew up, such as not speaking until she was three.

"We have been up and down to the hospital over the years having scans and consultations and because nothing was being picked up, things were being ruled out.

"We came round to the idea that this is just Melissa, it's who she is. Doctors are doctors, not magicians, but then finally they found a diagnosis."

From that point there was new hope for the couple, who have two other children - James, 12, and one-year-old Katie.

At last an answer meant they could plan for the future and have a glimpse of what was to come in terms of Melissa's health and development.

"Then they looked on databases across the whole world for another example of this specific case," recalled Mrs Quinn.

"But there was none, so they now call it Melissa's Condition.

"It means we have no idea what to expect. She is still making some progress on talking and interacting, but because there aren't any other reference points we don't know if she will continue to progress, if she will ever have any kind of independence, or indeed if the condition will get worse.

"You really need hope in these situations, and even if progress is very slow, it's still progress."

The youngster attends Saltersgate special school in Dalkeith, and the only physical difficulty her illness brings is occasional difficulty to walk.

But her mental age is closer to that of a toddler's, and while she can initially engage in conversation, it soon becomes clear that it is only a one-way interaction.

"She has to control the conversation," her mother added. "If you were to ask her what age she was or her name, she would answer, but no other questions would get a response. She would go on to talk about something completely different.

"It can present some behaviour problems, I think through frustration as much as anything else, and she is very trusting, she doesn't have any sense of danger whatsoever, so from that point of view you have to be with her all the time."

It has been a trying situation for a family battling other problems. As Mrs Quinn struggled to keep her accounting business going she was diagnosed with ME, forcing her into a career rethink which led her to Queen Margaret University.

As a result, James Snr, 32, had to stop work as a painter and decorator to become a carer for Melissa and the rest of the family.

"It is difficult, of course it is," Mrs Quinn added. "But there are so many good things about her too.

"She isn't in any pain, and she is always happy.

"She could bring a smile to the face of even the most miserable person. She does things that are very endearing. I could be sitting trying to remember something and would scratch my head, then she would copy that action.

"We have changed our approach, we've stopped stressing so much about what will happen, and just really dealing with it as it goes and loving her for who she is. She brings a lot of happiness to our lives.

"However hard her condition is to deal with, we know she is extra-special and the only one like her in the world."

'The testing has improved and is incredibly sensitive'

The Quinns have been involved with the charity Unique, which provides support and brings together families from across the world with children in the same situation.

It aims to help families cope with the challenges of rare illnesses of which little is known.

Prisca Middlemiss, of Unique, said: "A microdeletion can cause a huge variety of health problems and learning difficulties.

"As testing has now improved and is incredibly sensitive, finding individual cases is becoming quite common.

"It is doubly hard for families because not only do they have a child who may be disabled but they do not know what the future holds.

"That is why we bring people together and hold a completely confidential database to help other families - and many professionals as well.

"We currently have more than 9000 records of rare chromosome disorders, so it could mean if a newborn baby ever has Melissa's condition we will have her on the database and that can help build a picture."

For more information on Unique's work, visit www.rarechromo.org

HOW IT OCCURS

A PERSON'S genes - or genetic information - is carried in 46 threadlike structures called chromosomes.

In some cases, one can be missing or in addition, which can cause conditions such as Down's Syndrome, where there is an extra number 21 chromosome, or a wealth of rarer illnesses.

In rarer cases, part of a chromosome can be missing, which is called microdeletion.

It is within this process where some completely unique conditions can emerge, and in Melissa's case no other records of her condition (a microdeletion of number 1 chromosome) can be found across the world.

Rare Chromosome Disorder (RCD) can have a wide range of impacts, from mild learning difficulties to severe mental and physical disabilities.

There is no cure, but once diagnosed some aspects and symptoms can be managed and controlled.