A Derry family are helping to raise awareness of children’s genetic disorders with the UK children’s charity Genetic Disorders UK and their annual fundraising day, Jeans for Genes Day.
The Kirk family, from Campsie, have first hand knowledge of dealing with genetic disorders as their eight-year-old daughter Grace, the youngest of six children, has Down Syndrome.
When she was expecting her sixth child Sharon Kirk chose not to have testing for Down syndrome. She was 37 at the time and all five of her children were born healthy and the family had no history of genetic disorders.
Sharon and her husband Anthony had decided there was no point having any screening as their child was very much wanted.
Sharon says: “It made no difference to us whether or not our child had Down syndrome so I decided not to have the testing. It actually never crossed my mind that we could have a child with Down syndrome. I had a healthy pregnancy and when she was born the nurse asked if she looked like anyone. I immediately thought she looked like one of her brothers Jack, now 13.
“Then I looked closely and I saw her facial features were a bit different. Her tongue was popping in and out. I thought she could have Down syndrome.”
When doctors confirmed Grace did indeed have Down syndrome the couple were shocked at first.
“I cried for a little while,” recalls Sharon, 45. “Anthony held me but there wasn’t anything going through my mind. I think I was shocked. We both accepted it straight away. We had no issues with Grace having Down syndrome at all. We were so lucky that she has no medical issues. She had a paediatric cardiologist check her heart over and they were very positive. Apart from being a bit jaundiced she was really healthy. The doctors told me to treat her as normal just the same as our other five children. After a week in hospital we took her home.”
Down syndrome is a genetic disorder which affects one in every 1,000 babies born in the UK.
Down’s syndrome is caused by the presence of an extra chromosome in a baby’s cells, occurring by chance at conception.
Having a child with Down’s is more likely the older the mother is at the time of falling pregnant; however babies with Down’s syndrome are born to mothers of all ages.
Children with Down syndrome have low muscle tone, certain facial characteristics including a small nose and flat nasal bridge degree, a big space between the big and second toe (called a Sandal toe) and broad hands with short fingers. They also have a degree of learning disability and delayed development.
Fifty per cent of children with Down’s are born with a congenital heart disorder. Other medical problems can occur in some, but not all, children.
Although Grace did not have any medical complications she did suffer from low muscle tone.
She had physiotherapy to strengthen her muscles and Sharon carried out the exercises at home daily.
Sharon says: “The physio helped to get her moving and she was walking before the age of two. Normally children with Down’s don’t walk until they are three or four. She met her developmental milestones slightly later than other children; she just needed extra help to get there.
“Grace has always been a great talker. You could understand her completely if you talked to her now. I think coming from a big family – four elder brothers and a big sister – she has picked up language effortlessly and she has always been a big part of our family.”
Grace attended a crèche whilst Sharon returned to work part time as a medical secretary.
After a year at nursery Grace repeated the nursery year so she is now with children up to a year older. She is behind academically but is taught at a level individual to her and has made great progress.
Sharon says: “Grace gets on really well at school. The children are all really good to her. She is a happy, confident and very sociable little girl – her siblings adore her but she is the one that bosses them around. She has no challenging behaviour at all. The only problem is she has no sense of danger. She doesn’t understand danger. She would run out of a shop and take off if she has the chance.
“Grace loves Irish dancing. She performed at a shopping centre for St Patrick’s Day this year. She enjoys going to Rainbows and swimming lessons.”
Sharon and Anthony, 55, have to consider the options available when it comes to secondary school – whether to go for a mainstream school with additional support or a special needs school. Aside from that decision they don’t have worries for Grace’s future.
“I can see her having her own job and her own flat and living independently,” says Sharon. “I could see her driving and possibly getting married. She is very close to her siblings so I know they will be there for her when she is older.”
The family have had a lot of support from the Foyle Down Syndrome Trust – a Jeans for Genes Day grant charity – which was formed by local parents of children with Down syndrome.
They believed that more could be done to develop the potential of their children and wished to integrate them into the local community and in doing so educate the community as to their children’s capabilities.
Members of the support group came to see Sharon after Grace was born. They visited weekly to show Sharon how specially tailored learning through play would benefit Grace. They advised which toys were best to bring on Grace’s development, provided swimming lessons and Sharon attended family support groups to meet other families in the area with a child with Down syndrome.
“I knew that if I had any problems I could talk to someone at the group,” says Sharon. “It is really a fantastic group.”
Jeans for Genes Day is on Friday 19th September and invites everyone to wear their jeans to work or school and make a donation. Sign up for your free fundraising pack at: www.jeansforgenesday.org
The Foyle Down Syndrome Trust is a Jeans for Genes Day 2014 grant charity. They will receive £15,000 from funds raised on Jeans for Genes Day to fund a programme of speech and drama workshops for children with Down syndrome and their siblings, culminating in a public performance of two short plays at the Waterside Theatre in Derry.