Gift will help girl suffering rare disorder

Apr 5 2008 by Chris Robinson, The Journal

A LITTLE girl diagnosed with a rare genetic disorder has been offered fresh hope to help her senses develop.

Two-year-old Hannah MacDonald suffers from Chromosome Deletion Syndrome.

The genetic condition causes development defects in several of the body’s organs, as well as physical delays and learning disabilities.

Now the youngster, of Hetton-le-Hole, Wearside, has been helped to improve her life after receiving specialist fibre optic equipment to stimulate her senses.

Hannah, who has her mother’s maiden name and lives with her parents Mark Johnson, 32, Rebecca Johnson, 23, older sister Lily, five, and baby brother Max, 12 weeks, has already undergone two life-saving open-heart operations.

Mr Johnson, a postman, of Tynedale Street, said: “It was a bit hard to adjust to at first, our doctor didn’t really know much about it and if she’s not very well then we have to take her straight to the hospital.

“When Rebecca was pregnant a test initially came back showing that Hannah tested high for Down’s Syndrome.

“We thought about it and still decided to go ahead with the pregnancy anyway. When she was born, everything seemed fine.

“But when she was four days old, I had just gone back to work, she was feeling a bit off-colour and at first we didn’t know if she had a cold.

“A couple of hours later she went floppy and we took her to the hospital and found out she had a problem with her heart.

“I don’t even think they knew how serious it was, they took blood tests and we had to wait a couple of weeks for the results.

“It is a genetic condition, but it is nothing to do with me and Rebecca. What has happened is that when she has been forming in the womb one of her DNA strands broke away and then didn’t form properly.”

The family say they have remained strong due to the support of relatives and friends who held a fundraising night for them last year.

Hannah has recently begun nursery lessons at specialist Sunningdale School, Sunderland, where she is able to use a hydro therapy pool and fibre optic equipment.

The youngster also attends clinics at the Freeman Hospital and RVI, in Newcastle, and Sunderland Eye Infirmary, as the condition has also affected her sight.

She was given the specialist fibre optic equipment, designed as a lily pad, yesterday by north charity Hope 4 Kidz which raises funds to provide support for families with disabilities or illnesses.

Mr Johnson added: “It will be used for stimulation and she loves grabbing the end of the lights, and we’re just very grateful that we have been allowed to have it.

“She’s champion at the moment and they (her doctors) seem quite happy with her. She has come on loads but there are all sorts of problems that can develop with the condition. We do know that the oldest person living with it has just turned 21, so that is reassuring.

“We’re just trying to bring her along a bit, she can’t stand up by herself yet or crawl, but she is saying her first words like dad and mam which means a lot to us.”

What is Chromosome Deletion Syndrome?

THE condition, which can also be referred to as 22q11.2, is an abnormality of the 22nd chromosome, which can cause a number of health problems including heart defects and developmental delays.

It is present in one out of every 2,000 to 4,000 live births.

It is not thought to be hereditary and the root of the disorder lies within a person’s genetic makeup.

Characteristic signs and symptoms include heart defects that are often present from birth, a cleft palate or other palate defects, and mild differences in facial features.

People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system

While there is no "cure" for 22q, but there are ways to manage its problems.