Couple with rare disorder back test

A Wellington couple who lost their infant daughter to a rare disease are giving their support to a new embryo screening test.

Suzanne Woods' and Jamie Douglas' 15-month-old daughter, Elsie Pearl, died in December 2002 after struggling against an incurable illness, gaucher disease Type 2.

The enzyme deficiency disorder affects the brain, spleen, liver and bones, and most babies with the very rare disorder die before they reach their first birthday.

The couple, who have an older daughter, Ruby, aged four, would like to have another child, but there is a 25 per cent chance the baby would inherit gaucher disease.

They are considering using pre-implantation genetic diagnosis, or PGD, which was given the go-ahead in New Zealand this week under new guidelines. Ms Woods accepts that other people will have different views on the embryo test.

"It's such a tricky subject and everyone has their own verdict on it. But for us, Elsie was a beautiful girl, but she did have severe health problems.

"It was very stressful; near the end she needed 24-hour care - we had machines from Starship hospital in our home. I don't think we could go through that again, having a terminally ill baby."

Used with in-vitro fertilisation, PGD allows parents at risk of passing on serious genetic disorders to check that an embyro is clear of the condition before it is implanted in the mother's uterus.

Other tests in use are done three to four months into a pregnancy and can cause miscarriage.

Mr Douglas said having PGD available in New Zealand would give at-risk parents options.

"If you can find out at a very early stage in its development if the baby has a terminal condition I think ultimately it's better for all parties."

The couple would investigate using PGD "when it suits our needs", he said.

"Obviously the issue of pro-life for the child comes into it, and there's no easy answers for that. But if you've experienced something like we have, then sometimes you really are left with one option, and that's why I support having this procedure available."

- NZPA