Life changing moments

A simple blood test for pregnant women that determines whether an unborn baby has Down syndrome could be available in the United States within a year. Julia Proverbs explores the 'what-ifs'.

A couple of years ago Rachael Donovan asked her daughter Gabrielle, who is now 10, if she had Down syndrome.
Gabrielle's reply was: "I don't have it."
"Now she does," says Donovan, smiling. "Now she kind of likes that affiliation ... everyone likes to have the same peer group, the same issues."
Today, perched on a bar stool at the kitchen island of their seafront Mount Maunganui home, Gabrielle is drawing a picture of Peter Pan when Donovan asks her what she knows about Down syndrome. "I don't know," she deflects the question, eager to continue her artistry.
In fact, she knows a little. She knows she has a teacher aide at school. She knows it has taken her longer to swim and read and that it is unlikely she will ever be good at maths.
"She has a reasonable understanding," says Donovan. "There are lots of lovely books to help with that."
Her "don't knows" mean she doesn't want to answer at this point in time, Donovan explains.
But 10 years ago it would have been Donovan's answer - and a very accurate one.
Because, until Gabrielle, who her family affectionately call "Gabes", was born, Donovan, now 41, and her husband Paul Salmon had no idea they were going to be parents to a Down syndrome child.
At 31, Donovan was not in the high risk age group and the nuchal scan at 12 weeks did not suggest anything out of the ordinary. The second of four children, Gabrielle had been a small baby throughout the pregnancy but when she stopped growing altogether during the final trimester, Donovan was induced six weeks early.
Born weighing just 3lb 9oz (1.6kg), Gabrielle was so small she could fit in the palm of her uncle's hand. "I knew something was up because she was so tiny. The night before the induction the obstetrician said everything may not be okay," recalls Donovan.
But Down syndrome was not mentioned. "I knew soon after birth. It's a changing moment in your life. It's a period of time when you know there is a significant change in your life. The road you were going to head down has changed.
"I was given a diagnosis and later that evening sat down with the paediatrician and had a big chat."
For Donovan it came as both a surprise and a shock, but there are other families who are better prepared, having had a diagnosis before birth.
And there are those families who, after finding their unborn child has Down syndrome, decide to terminate the pregnancy.
A new blood test developed by scientists from Cyprus, Greece and Britain could make it easier - and safer - to find out.
They claim the test is the first worldwide to demonstrate 100 per cent sensitivity and 100 per cent specificity in all normal and Down syndrome pregnancies examined.
The test analyses fetal DNA extracted from the mother's blood, as opposed to current invasive methods, which take a sample from the amniotic fluid or the placenta, and which have a 1 in 100 risk of miscarriage.
Several research teams have published studies suggesting that analysing the mother's blood can detect Down syndrome in a foetus, but there is no commercial test available yet. However, at least one company hopes to introduce one in the United States within about a year.
Donovan will not be drawn on which path she would have chosen had she taken such a test.
As the regional coordinator for the New Zealand Down Syndrome Association and a committee member on the Bay of Plenty Down Syndrome Association, she wants to be able to offer an impartial ear.
"There are certain things people can go through and certain things other people can go through. I have new mums She changes people's perspectives every day. It's Gabrielle first and Down syndrome second.Rachel Donovan, motherLife-changing moments
FAR LEFT: Gabrielle is 14 months in this photo;
LEFT: Gabrielle at 3 years; ABOVE: From left, Penelope Salmon, Gabrielle Salmon, Rachael Donovan and Natalie Salmon. (Penelope is holding Chinky the kitten and Natalie is holding Juno the kitten) They also have a brother, Max, who was not there at the time.Down syndromeDown syndrome is a life-long condition that causes delays in learning and development.
It occurs because cells contain an extra chromosome - number 21.
It can occur in any family of any race, culture or religion and is never anyone's fault.
In New Zealand one baby in about 1000 is born with Down syndrome; that is one or more babies with Down syndrome born every week.
People with Down syndrome are individuals and vary in their abilities and achievements.
Down syndrome is recognisable at birth because of the typical physical characteristics and diagnosis will have been confirmed by chromosome analysis.
People with Down syndrome do have features in common, but they also closely resemble their parents and family.
- Source: New Zealand Down Syndrome Association
Continued from C1call me all the time ... I don't want them to know."
Yes, she and Paul talked about the "what-ifs", as many expectant couples do. And, yes, they had agreed on what they would do, but that is all she is saying. What she will divulge is that "Gabes" has changed her life in ways she could never imagine.
"I have thoroughly enjoyed the experience she has brought to our lives and I wouldn't change it an iota," she says, sitting on a seagrass sofa with two kittens curled up on her lap.
"Gabrielle has changed viewpoints in me and also helped educate me on how people should be educated. She has opened more doors than she's closed."
She speculates that the new test, should it become available, may lead to more abortions of Down syndrome babies but also notes that, even though screening has become better over the years, the number of children born with Down syndrome has not dropped in New Zealand.
"I wouldn't be surprised if the test changed the incidence of Down syndrome in terms of how many of these children are born, because people want to take the risk out of their lives. But life doesn't come with a guarantee and life gives you experiences whatever it might be. Taking away the risk of having a child with Down syndrome doesn't take away the risk of being run over by a bus. Life is about risks."
Maree Kirk, who has a teenage son, Spencer, with Down syndrome, says testing brings with it wide-reaching implications.
"Do we only value perfect children? And how do we define what the perfect child is? Sometimes medical science gets a bit carried away."
Kirk says, had it been available to her, she would never have considered having the blood test.
"I wanted to have a family. You make that choice. You want to be very clear about your obligations and responsibilities and the role that entails, to love unconditionally."
Spencer, the youngest of four children, recently celebrated his 14th birthday.
"He had 20 friends and a bouncy castle," says Maree of his popularity.
A valued member of his community, Spencer is well known in his Avenues neighbourhood. "He is very involved in the houses around us. He knows all the pets and everyone knows where he's up to.
"It has been a challenge and we've had to learn a lot of things along the way but, for us, having a child with an intellectual disability has made us all become better people than we ever really thought we were capable of."
Those with intellectual disabilities have an outlook on life that is "very uncluttered", she says.
"Their pace of life is a bit slower. Spencer has taught us to slow down and appreciate what's happening around us and that the relationships you have with people are very important. It's a lovely approach to life.
"It would be a much duller world if he wasn't here. It would certainly be a much duller neighbourhood."
Paediatrician Hugh Lees says a blood test would make it more "clean cut" for expectant parents, but that he would not like to speculate on whether or not it would result in more terminations.
"I would not like to comment on what individual decisions may be.
"These are difficult issues and people have different perspectives on them depending on their view of termination and a pregnancy not resulting in a normal child," says Dr Lees.
"All the ones (Down syndrome children) I look after are very loved children and have very positive relationships with their parents," he says, adding that he has several relatives with Down syndrome. They are valued members of our wider family.
"That's one of the ethical issues, when you consider individuals before they are born - are they likely to be valued members of their families?"
While some of the children under his care have serious disabilities, Dr Lees says the vast majority have milder impairments.
He describes Down syndrome children as "endearing" and says that their ability to cope as adults depends on the individual. With better care available than a generation ago, those with Down syndrome are living longer, he says, but there is a higher incidence of dementia, which can start as early as their late 40s.
Thankfully Gabrielle has been, for the most part, a very healthy little girl.
"There have been medical issues along the way but not too difficult to overcome," says Donovan, leafing through Gabrielle's well-worn Plunket book.
"Of all the little books this one was the most used," she muses.
Gabrielle spent a month in the special care unit due to her premature birth and had an operation for a morgani hernia when she was 2.
She also has mild to moderate hearing loss, a speech and language delay and visual impairment.
"It's also about knowing what children with Down syndrome can potentially have and making sure you keep up with that," says Donovan. For instance thyroid issues, coeliac disease, a lowered immune system, heart issues and abdominal differences. In a Year 5 class at Omanu Primary School, where she is assisted by a teacher's aide, Gabrielle "leads a fairly normal 10-year-old-life".
"She reads well, does sleepovers, goes swimming, plays piano, does ballet ... but you have to go that extra mile. It's not without input. It's ongoing. You have got to be motivated," says Donovan.
"She tries so hard and she has to try so hard every day. It's not a level playing field for her."
It took Gabrielle until she was two-and-a-half to walk and at 4 she was only saying three-word sentences. It is only recently that she has learnt the different between "what, where, who and why".
But Donovan says the journey has been "completely beneficial". "She changes people's perspectives every day. It's Gabrielle first and Down syndrome second."
The biggest impact she will have will be in her siblings, Max, 11, Penelope, 7, and Natalie, 5, she adds. So, what if there was no Down syndrome in the world? "There won't be."
But, theoretically, what if? "It would be a poorer place without Gabrielle and the likes of Gabrielle in it. We are all different.
"That's all there is to it."