A little brother and sister have been diagnosed with the same rare life-threatening condition that only affects three in a million people in the UK.
Emma Whittaker, aged four, was diagnosed first with Fanconi Anaemia (FA), a blood disorder that can lead to bone marrow failure and cancer.
Her mother Rachelle Emberton hoped her son James, three, would prove a suitable bone marrow donor to help save her life.
But she was devastated two months after Emma was diagnosed when tests also found he had the same rare condition.
Luckily a donor match has been found should James need a transplant.
But Rachelle and partner Malcolm Whittaker are still searching for a match for Emma who will need a transplant in the next few years.
Businesswoman Rachelle, from Pitstone, Bucks., said: “It was devastating when we found out James had FA too.
“The doctor was very honest with us and told us the average life expectancy was 30.
“I’ve explained to Emma that she has special blood and James just picks up anything his big sister says.
“They are typical children – little angels on their own, but when they are together they become little devils.
“Emma is four going on 14 and like any other young child loves her princesses and going to school. She is my little princess.
“All I want is to see my children grow up.
“We’ve searched the international database and cannot find a match for Emma. We desperately need more people to come forward.”
Emma, who was born with one kidney, was diagnosed with FA in November 2012 when Rachelle noticed she was bruising easily.
Rachelle said: “If I wasn’t a pushy mother then we would never have found out she had FA. We might never have known until she got really poorly.
“The condition is so rare I’ve had to explain it to doctors and give them the standards of care documents.”
Emma’s blood white and blood cells and platelets count has stabilised but doctors have advised she will need a bone marrow transplant in the next few years.
James, who was also born with one kidney, was diagnosed with the same condition last month.
There are fewer than 150 sufferers of FA in the UK – with an incident rate of just three in one million – and research and detailed information about the condition is patchy.
Rachelle and Malcolm, 53, who are both FA carriers, are now urging people to join the Anthony Nolan bone marrow register.
The charity is dedicated to saving the lives of people with blood cancer who need a blood stem cell or bone marrow transplant.
There are currently over 450,000 people on the register, but the charity can still only find a match for around half the people who come to them in need of a lifesaving transplant.
Rachelle said: “Registering is really simple – people do not realise. All you have to do it spit in a pot and send it off and you are on the register.
“My mother is Iranian and the doctors think that there may be a match in the Iranian community so she is going into community centres to try and get the word out.”
FA received more publicity with the Emmerdale storyline of character Sarah Dingle who was diagnosed with it in 2011.
Jeannie Dalgleish, from support charity Fanconi Hope who has a daughter with the condition, said it is unusual for more than one child in a family to have FA.
She said: “Genetic counselling is available for parents who have had a child with FA, but the condition is normally not diagnosed until children are eight.
“Emma was an unusual case to be diagnosed at the age of four.
“It is unusual for more than one child in a family to have FA.
“Looking after one child with the condition is hard, so it is a very difficult position to be in to have two children with it.”
Ann O’Leary of the Anthony Nolan register said: “For someone with a blood disorder like Emma and James, a bone marrow transplant can be their only hope of survival.”
To register on the bone marrow register go to www.anthonynolan.org/register
