August 30 2014 Latest news:
Saturday, March 8, 2014
Every child is special but Madeline Reeder is one in a billion. She was born with a condition so rare that just seven people worldwide share it and it does not even have a name.
It was feared that she might never be able even to sit up alone, but little Madeline has just mastered walking and is already trying to run.
Her achievements have inspired mum, Sammy, to tackle a marathon in aid of a charity which helped the family through its darkest days.
Today Madeline is still tiny for her age, and her disabilities mean she must be one of the few three-year-olds in Britain never to have enjoyed a biscuit or ice cream, but the little girl with the big brown eyes and long dark hair has a huge personality too, and although she can only speak a few words, she loves trying to sing and dance.
She lives in Worthing Road, Lowestoft, with her mum, 28-year-old Sammy, and dad, 32-year-old Richard.
The first hint that something was wrong came when Sammy was pregnant with their first child and a scan revealed possible problems with the baby’s kidneys.
Subsequent scans showed Madeline had just one kidney working properly, and that was in the wrong place.
Then tests seven months into the pregnancy revealed Madeline had a chromosomal abnormality and the couple had to face the news that their first child was going to be born disabled.
“You think you are going to have this good pregnancy and a perfectly healthy baby to take home and it is really hard when that doesn’t happen,” said Sammy.
Although Madeline was born at full-term she weighed just 4lbs 4oz, and was only 48 hours old when she underwent her first operation, with another three days later.
As their newborn baby struggled through her first hours and days, Sammy and Richard were hit with blow after blow.
Their tiny daughter had life-threatening problems with her intestines, a cleft palate and a heart defect. She would have physical and learning difficulties and a high risk of developing eye cancer.
“When we found out, it was a big shock, but also kind of lonely because no one knows about it.
“It’s not like Down’s syndrome, which people understand,” said Sammy. “The condition doesn’t actually have a name because there are only a few cases worldwide,
“The nearest they get is ‘x13 mosaic unbalance translocator’.”
Madeline spent the first three months of her life in hospital and, to date, has had 17 operations and procedures under general anaesthetic and more than 100 hospital appointments.
“It was so lovely when we could bring her home, but really nerve-wracking as well because in hospital you have got all these medical experts around you,” said Sammy.
She has had to be tube fed, directly into her stomach, from birth and by the time her cleft palate was repaired, in yet another operation, she had spent so long unable to chew or swallow food that she chokes on the smallest taste. She has never eaten a meal, or even enjoyed a piece of fruit or cake.
“At Christmas we tried to get her to taste some advent calendar chocolate, but she just gagged,” said Sammy. “She will sometimes take a few sips of drink by mouth, but that is all.”
The family is hoping that she will eventually be able to learn to eat, and are also teaching her simple sign language to help overcome her hearing and speech problems. And yet Madeline loves to paint and sing and name the colours of the rainbow.
“Madeline can only say a few words and she can’t run or jump just yet, but she’s trying really hard,” said Sammy. “She likes painting and drawing and trying to sing and dance.
“She’s a strong little girl and doesn’t let anything get her down. She’s very happy and loves her school and pre-school. She loves interacting with other children. It inspires her and she copies what the other children do.”
Sammy said their families have been endlessly supportive, with her parents and Richard’s grandparents living nearby and always ready to help.
Sammy is also close to her two sisters. They have daughters very similar in age to Madeline and she admitted it was sometimes difficult not to wonder what might have been as her sisters’ daughters romp through their baby and toddler milestones.
One day she and Richard would like to have another child but for now there are countless appointments with doctors, physiotherapists, speech therapists, dieticians and more.
Madeline also loves attending sessions at a local pre-school and school, thriving on being part of the action at Blundeston pre-school and blossoming with the help of experts in severe learning difficulties at Lowestoft’s Warren School.
On March 25 she will celebrate her fourth birthday and an outing with her playmates and cousins is planned, but there are few clues as to what her future holds.
“The cases that we know about are children, so there is not enough evidence about what might happen when she grows up,” said Sammy.
Because of the genes involved, there are worrying suggestions that Madeline might encounter yet more problems in adulthood but Sammy who works as a hotel receptionist one day a week, and Richard, an offshore electrician, are determined to stay upbeat.
“For now I think she will be with us for ever and we will need to help her, but you never know because she surprises us every day with what she does,” said Sammy.
On Sunday, April 13 Sammy hopes to raise at least £2,200 for Genetic Disorders UK, one of the charities which helped her family through the difficult days, weeks and months after Madeline’s diagnosis.
Two years ago Richard ran the London marathon and raised more than £2,000 for Unique, the Rare Chromosome Disorder Support Group. Samantha decided she could do the same, despite no experience of running since school. Just seven months ago she could manage to run for only two minutes before stopping, but now regularly runs for more than two hours and is already up to 17 miles.
By the time she stands on the start line in London she will be hoping to complete the course in under four hours – and an hour-and-a-half quicker than Richard!
“I’m doing it for my little girl, really,” said Sammy. “I wanted to give something back to the people who had helped us. When we first found out about Madeline they gave us lots of information and support.
“I had to learn very quickly. I was only 24 when I had Madeline and I had never even changed a nappy. I had to grow up very quickly.
“I’m really looking forward to the marathon now. I’ve had a few injuries but I’m a determined person.”
It’s something else she shares with her beloved daughter.
“They didn’t even think she would be able to sit up, then that she wouldn’t walk, or would need a walking frame,” said Sammy. “She can walk on her own now, although she has to really concentrate so she doesn’t fall over, bless her!”
“I tell her, ‘Mummy is running the marathon for you. I’m doing all this for you, little girl!’ She doesn’t understand and she won’t know why I am running when she and Richard are in London watching, but I know she will be happy to see me at the end because she does love her mum!”
Comment – page 36