One couple's journey through PGD

“It’s a wonderful gift"

Lisa Christy explains how preimplantation genetic diagnosis (PGD) with Sydney IVF made it possible to have another healthy baby, safe in the knowledge that their new daughter would not have a rare inherited form of kidney cancer.

Lisa's husband Aaron was diagnosed with Wilms' tumour (or nephroblastoma) when he was a child, but was successfully treated with chemotherapy and surgery to remove one of his kidneys. When Lisa and Aaron decided to start a family, they had a healthy son (Josh, now 7 years old). However, when their second child Ben was only 18 months old, he was diagnosed with Wilms' tumour.

"Up until Ben was diagnosed, we’d always been told that there was no genetic transmission of Wilms' tumour," explained Lisa.

To complicate matters further, the week that Ben was diagnosed, Lisa found out that she was pregnant again.
"Because of the genetic basis to the cancer, there was a chance that the baby I was carrying was going to have Wilms' tumour," she said.

Daughter also diagnosed with Wilms' tumour

This did turn out to be the case, and their new baby girl Ella was diagnosed with Wilms' tumour at 4 months. Meanwhile, Ben underwent just over 2 years of intensive treatment, but sadly, passed away when he was 3½ years old. Ella was also treated intensively with chemotherapy with a good response, and she remains very well and is now 3½.

Family did not want to risk another affected child

Lisa and Aaron had always wanted a large family, but were worried about the risk of having another affected child. "If we chose to fall pregnant naturally, there was a significant risk that the baby would have Wilms' tumour. We didn’t want to put the whole family through that again because it would have been too painful," she said. Lisa and Aaron turned to genetic experts at Sydney’s Westmead Hospital. "They did a research project and worked out the gene sequence that transferred the cancer, then they referred us to Sydney IVF for PGD," explained Lisa.

New PGD test developed specifically for them

The couple met with the PGD scientists and geneticists at Sydney IVF who explained the genetic transmission of the condition and the steps that would be necessary to develop a test specifically for them. This test would enable Lisa and Aaron's embryos to be screened for Wilms' tumour prior to transfer to ensure that only a healthy, unaffected embryo was transferred. "They needed a couple of months to develop the test and to make sure that it would work and was accurate. They explained everything upfront, and it was all very clear to us as to the process involved," she said.

PGD allowed selection of healthy embryo

Lisa's IVF cycle resulted in 8 good-quality embryos, but 5 of the embryos had the cancer gene. "It really drove home that if we had decided to fall pregnant naturally, it would have been like playing Russian roulette," she said. One of the three healthy embryos was implanted. "I fell pregnant with that first transfer, and we ended up with a completely healthy baby girl, Rose, who has recently celebrated her first birthday." One of the two remaining healthy frozen embryos was transferred in late 2008, but the transfer was not successful. However, Lisa remains optimistic: "We are very blessed to have our children. We will probably try again with the remaining frozen embryo in the next few months."

"It's all been quite simple"

"Going through IVF and PGD has been a great solution for us, because it has allowed us to be certain that our baby would not have the inherited cancer. It’s all been quite simple, but the technology is amazing. In the past, families like us who have genetic illnesses would have decided not to have children at all or become pregnant and take the risk that the baby would be unaffected or test the embryo and face the heartbreaking decision of termination. But now they have the opportunity to have a healthy family. We treat our little daughter Rose as a wonderful gift. Every day, we are thankful that we were able to have her, knowing that she was not going to be sick."