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Lisa explains how Preimplantation Genetic Diagnosis (PGD) with Genea made it possible to have a healthy baby and avoid passing on a rare inherited form of kidney cancer.
When Lisa's husband Aaron was a child, he was diagnosed with Wilms' Tumour (or nephroblastoma). He was successfully treated with chemotherapy and surgery to remove one of his kidneys. Years later, Aaron met and married Lisa and the couple decided to start a family. Their first son Josh, was born healthy and has remained unaffected by Wilms’ Tumour. Unfortunately, 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," Lisa said.
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.
Sadly, that's exactly what happened and the couple’s new baby girl, Ella, was diagnosed with Wilms' tumour at just four months old. Meanwhile, Ben underwent two years of intensive treatment but could not beat the aggressive cancer and passed away when he was almost four years old. Ella was also treated intensively with chemotherapy, responded well and survived.
Lisa and Aaron always wanted a large family, but were now naturally worried about the risk of having another affected child.
"If we decided 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," Lisa said.
Instead, 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 Genea for PGD," Lisa explained.
The couple met with Genea’s PGD scientists and geneticists who explained the steps that would need to be taken to develop a test specifically for them. This test would screen Lisa and Aaron's embryos 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.
Lisa's IVF cycle resulted in eight good-quality embryos, but five of the embryos carried the cancer gene.
"That result really drove home that if we had decided to fall pregnant naturally, it would have been like playing Russian roulette," Lisa 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.
The couple tried for another child with one of the two remaining healthy frozen embryos, but the transfer was not successful.
However, Lisa remains optimistic: "We are very blessed to have our children. And we have one remaining frozen embryo which we can try again with in the future."
"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 fetus and face the heartbreaking decision of termination. But now they have the opportunity to have a healthy family," Lisa said.
"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."
Are you looking for some clues about why it’s not working or for advice on what to do next? You're not alone. Contact our Fertility Advisors and let them point you in the right direction - towards your goal of a baby.
A departure from what’s normal - in a more or less exact medical sense. An abnormality...
Embryo as a term is used to describe everything from a fertilised egg (or...
The smallest unit of inheritance coded by DNA. Generally, a single gene codes for a single...
A full set of DNA code (a full set of genes) for a whole animal or organism
When an egg (oocyte) is fertilised by a sperm outside of the body it is via a...
Used to gauge the genetic health of an embryo prior to implantation. It is the process of...
Balancing work and IVF
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