The highs and lows of Down's

Author Huberta Hellendoorn (centre) with her husband Bart, help their daughter Miriam, who has...
Author Huberta Hellendoorn (centre) with her husband Bart, help their daughter Miriam, who has Down's syndrome, with a word puzzle at their Opoho home. Photo by Linda Robertson.
Having a daughter born with Down's syndrome and struggling to come to terms with her life in Dunedin as a new immigrant from Holland in 1962 made for some lonely, poignant and rewarding experiences for one Dunedin mother. More than 40 years later she decided to write a book about her daughter's life.

Edith Schofield talks to author Huberta Hellendoorn.

Not long after her daughter was born in 1962, Huberta Hellendoorn was walking home, pushing her new pram, when she bumped into a neighbour.

The neighbour asked how she was, and she replied, "Fine, thank you" and stood waiting for her neighbour to say something else - to perhaps admire her new baby.

As a new immigrant Mrs Hellendoorn was shy and unsure of herself, so said nothing.

But the woman simply made her farewells and walked quickly away, and for Mrs Hellendoorn her new, lightweight pram suddenly "felt unbearably heavy to push".

This story from the opening chapters of Mrs Hellendoorn's self-published book The Madonna in the Suitcase illustrates the isolation this lonely Dutch immigrant was experiencing after her child was born with Down's syndrome.

Mrs Hellendoorn had left Holland with her husband only the year before.

A new mother at 24, she was statistically young to have a Down's syndrome child and had no idea her daughter Miriam would be born with an extra copy of chromosome 21.

After her birth she worried about how she would cope having a child with special needs and she was filled with feelings of guilt, isolation and fear for the future.

"I felt as if I was shut up in a square white tent, separating me from everyone around me, affecting everything I did or said.

"I listened to the other women talking about their babies, laughing together, planning visits in the future. I noticed that whenever I entered a room they fell silent. I felt their pity. But I didn't want their pity."

Mrs Hellendoorn had no family in New Zealand and in those days there was no internet, email or cheap telephone calls.

Instead letters took weeks to arrive and any problems she wanted to ask her own mother about would have long been fixed by the time she got a reply.

Several people have asked her why, more than 40 years on, she wrote the book, which tells Miriam's story.

"How could I not with such a life-inspirational model around me, day by day," she says.

She wanted people reading her book to "experience a bit more than just a glimpse into the world of a family with a handicapped child".

Years ago she realised it was important to talk to others about some of the problems they experienced, and she used to tell a woman, who had teenage children, little bits about what Miriam had done, or some of her delightful remarks.

The woman in turn would relate these comments to her own children and later told Mrs Hellendoorn her son had not realised handicapped people had feelings.

"It hurt like hell in those days when somebody would say, `That one of so and so is not doing as well as your Miriam.

She wasn't `that one', she was my daughter, she was beautiful and I loved her to bits."

When Miriam was born her parents were told their daughter's understanding would be similar to that of a 9-year-old, yet she continues to amaze them and make comments that make them think "that is not a 9-year-old".

Miriam has lived a full life - working, going to art classes, being on committees and appearing on radio, she says.

Among the joys her daughter brought was "the total unconditional love" and her constant enthusiasm.

"It is a trueness. There is something really true about Miriam."

Mrs Hellendoorn said she did not judge others, who could now undergo pre-birth testing for genetic disorders, and any decisions they might make as a result.

"It is individual.

"All I can say about our experience is that we would not have wished it any other way.

"So much emphasis has been placed on perfection, everything bigger and better and more streamlined to suit the extreme consumerism.

"Yet I cannot think of my daughter as being imperfect. She is not in any shape or form. She is different. As we are all different."

- Mrs Hellendoorn's book has now been adapted for a five-episode broadcast series on Radio New Zealand National.

The facts
Down's syndrome: Down's syndrome is a life-long condition which causes delays in learning and development.

It is caused by an extra copy of chromosome 21 inside each of the body's cells.

One or more babies are born every week in New Zealand with Down's syndrome.

Randomly affects about one in every 1000 babies born, male and female alike.

Can occur in any family, of any race.

It is not caused by anything the parents may have done before or during pregnancy.

People with Down's syndrome are individuals and vary in their abilities and achievements.

Information supplied by the New Zealand Down Syndrome Association.

The tests
Testing for Down's syndrome: Nuchal translucency scans and a maternal serum-screening blood test are screening tests to assess the risk of having a baby with Down's syndrome and other conditions, such as spina bifida.

Nuchal translucency uses an ultrasound scan to measure the thickness of the fold of skin at the back of the baby's neck.

Maternal serum screening measures specific hormones and proteins in the blood.

The screening tests are not 100% accurate.

The tests will miss one or two of every 10 babies born with a condition.

Amniocentesis is a diagnostic procedure for Down's syndrome.

A needle is inserted through the abdominal wall of the mother to withdraw a small quantity of amniotic fluid surrounding the baby.

There is 0.5% to 2% risk of miscarriage following the procedure.

fil[[{Scanning the horizon

Decades on from the birth of the Hellendoorn's daughter Miriam, another young Dunedin mother was given cause to wonder whether attitudes had changed very much.

Anita Smith had her own brush with Down's syndrome earlier this year, though, significantly, it was for her in the months before her son was born.

After two wonderful pregnancies, Mrs Smith had not expected her third to be "like a bad dream".

Indeed, when she was told there was a possibility her baby could have Down's syndrome following an ultrasound scan at 19 weeks, she was shocked.

Shocked not so much at the result but that a screening test for the syndrome had been carried out at all.

She had earlier made it clear, she thought, that she did not want to know.

As she would be 35 when her third child was born, she was considered an older mother, and offered a 10- to 14-week screening test for chromosomal abnormalities.

This test, known as a nuchal translucency scan, is an ultrasound scan that measures the thickness of the nuchal fold of the baby's neck.

An increased thickness indicates an increased likelihood of the baby having a condition such as Down's syndrome.

The test is not 100% accurate and has a high rate of false positives.

"I refused, because if I did find out, I wouldn't do anything about it, so I didn't want to know," Mrs Smith says.

However, she agreed to have an anatomy scan at 19 weeks.

At this scan, and despite her earlier decision not to have a nuchal translucency scan, the nuchal fold was measured and found to be thicker than normal.

She was told there was an increased likelihood her baby had Down's syndrome, but an amniocentesis would be needed for a definitive diagnosis.

An amniocentesis, in which a needle is inserted through the abdominal wall and a small sample of the amniotic fluid around the baby taken, carries a 0.5% to 2% risk of miscarriage.

For Mrs Smith the risk was unacceptable.

Even if her unborn baby was diagnosed with Down's syndrome she had no intention of having an abortion, so she felt there was little point doing the test.

But having been told her baby could have Down's syndrome, following the anatomy scan, she was left in a state of limbo, not knowing whether to prepare for that outcome or not.

"I wouldn't have minded if they told me `you have a baby with Down's syndrome', because then I could have prepared myself for it."

After Baxter's birth Mrs Smith and her husband eventually learned he did not have Down's syndrome, though in the end, even before they were told, it did not matter.

"That afternoon I went up, held him and fell instantly in love, and at that moment I did not care."

The question remains for Mrs Smith, why, when she had made her views clear, was the question of whether or not her child had Down's syndrome raised as an issue during her pregnancy.

New Zealand College of Midwives midwifery adviser Norma Campbell says ultrasound scans are "sort of becoming something that everybody does" and people often asked a pregnant woman "have you been for your scan yet?"The scan was a screening test and "not just a picture of their baby" or to find out the sex of the baby.

"If they find something wrong you have to be prepared to think what you are going to do about it," Ms Campbell says.

Usually screening for chromosomal abnormalities is done in the first trimester, while the 18- to 20-week scan is "looking at the big stuff", such as heart conditions or problems with the spine.

It is rare to do nuchal translucency at this stage, she says.

Otago District Health Board clinical director women's health Sue Fleming says women who have a scan at 18 to 20 weeks are generally having an anatomy scan, which is a screen for any physical abnormalities that can be detected by ultrasound.

If the nuchal fold is thickened this is reported as it can be associated with problems for the fetus, including chromosomal abnormalities and heart problems.

It is not a nuchal translucency test in the same sense as the 10- to 14-week screening test and many people are confused by this difference, Ms Fleming says.

Otago Radiology radiologist Dr Neil Morrison, who was not involved in Mrs Smith's care, says they use a computer program from the Fetal Medicine Foundation to determine the risk of a baby having Down's syndrome.

The system is "very precise" and data such as measurements of the nuchal translucency, the size of the baby and whether the nasal bone can be seen are entered into it.

The programme is only valid if the scan is done at 11 to 14 weeks of pregnancy.

The nuchal fold is still looked at as part of the general anatomy in later scans and if it is abnormal it may be commented on, he says.

However, any conclusions will not be as precise as those made by the computer program.

Ms Campbell says antenatal scans can be confusing.

It is important women give "informed consent" to have a scan and both the person ordering the scan and the person doing it should play a role.

The midwife, or lead maternity carer, should talk to the woman about the scan and whether she wants to have it, and the person doing the scan should say: "Do you understand what we are doing today?"

The Ministry of Health's National Screening Unit is doing an "enormous amount of work" ensuring everybody, including health professionals and pregnant women, understands the parameters of screening, Ms Campbell says.

National Screening Unit acting manager of the antenatal and newborn screening team Gaye Tozer says the ministry is introducing improvements to practices for Down's syndrome screening.

New information pamphlets are being developed, as is an online education module for health professionals.

Last year, the ministry started publicly funding maternal serum screening blood tests in the second trimester.

This test measures levels of specific hormones and proteins in the blood, and when combined with age, weight and due date, calculates how likely it is a baby will have a particular condition, such as Down's syndrome.

Like the nuchal translucency test, it is not 100% accurate and will miss about one or two babies out of 10 who have a condition such as Down's syndrome.

The results of the test can be combined with the nuchal translucency scan to give a combined risk assessment.

Ms Tozer says women will "shortly" have the option of having the blood test in the first trimester.

Maternity Services Consumer Council co-ordinator Lynda Williams says many antenatal screening tests - "and there are more and more of them coming along" - do not reassure women.

"They just increase the anxiety, because none of them are able to really give you a 100% thing that women are looking for these days."

New Zealand Down Syndrome Association national executive officer Zandra Vaccarino says health professionals involved in antenatal testing need up-to-date information about Down's syndrome.

People with Down's syndrome can lead full and satisfying lives, and enrich the lives of those around them, she says.

The association believes all women should have a choice about antenatal screening, but it needs to be an informed choice.

Women should not be pressured into having antenatal testing for Down's syndrome, and should be given information about the test's risk, accuracy and waiting time for results, she says.



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