PGD - A patient’s perspective

A few weeks after our first child was born we received a phone call from our family doctor. He had the results of a routine blood test that all children in Australia have when they are born. The test had revealed that our baby daughter Amelia (now five) was born with cystic fibrosis.

My husband Glenn and I were devastated when we found out what our beautiful new baby daughter had in store for her health-wise. A lifetime of constant medication and possible hospitalisation wasn't what we had pictured for our child.

Amelia is a happy, bright child, but has been very sick, spending a lot of time in hospital. We had always wanted more children but we were then faced with the real possibility that they too would have CF. Glenn and I didn't want to see another child go through what Amelia has and will have to go through. We felt that another child with CF would cut down on the quality of care we could give both children.

We contacted our O&G specialist to see if there was anything that could be done to prevent future pregnancies having the same condition. The only option we were told about was termination of a pregnancy, once it was established that I was carrying an affected child. Terminations were not something we could face time and again. In fact if we fell pregnant naturally we felt we would have the baby (CF or not).
It was finally through word of mouth that we came across preimplantation genetic diagnosis service. When we first heard about PGD we were thrilled and excited that such a technique was available. It solved many emotional and troublesome issues for us.

After going through all the other options we decided that PGD was the best one for us. We concluded that making an effort to ensure our next child did not have CF was an excellent way to ensure that we spend high quality time with all our children - even if it did mean we would have to go through IVF. We also felt healthy siblings were the best thing for Amelia and us as a family.

We went to the IVF centre for interviews about IVF / PGD and had blood taken for a PGD genetic work up. This work up took a few months to complete then we started our IVF cycle.

The needles were a bit of a worry from the start. Amelia used to love watching me give myself injections as she has had quite a few blood tests herself. She said mummy was 'very brave' having her medication and used to rub it for me afterwards!
I was surprised by how quickly the whole process was from start to finish.

For me the most difficult part was the egg collection as I found it painful and the drugs made me very emotional during and after.

After the egg collection the eggs were fertilized and the embryos tested. Ironically none of our 6 embryos had the CF disease. Five were CF carriers though. We chose to have two of the embryos transferred.

There was still the worry of whether either of the transferred embryos would take. I really felt calm about the waiting period. We didn't expect to become pregnant first go but when the whole thing was over I was surprised at how confident I felt. I kept on ringing the nurses to complain about the bloating and cramping and they kept on reassuring me that this was normal and may even be a good sign. I did feel pregnant but I didn't know if it was just the bloating making me feel this way.

When we rang they confirmed that 'yes!' we did have a baby on the way! During the next few weeks I became so sick I was sure that there were 2 babies in there! My hormonei levels, however, were quite low, apparently making it less likely.

We were thrilled (if not a little apprehensive!) to find out that both embryos had taken. Elli Laura and Connor Joseph were born 4 days before Christmas on the 21st of December 2000 by Caesarean section. They were both in transverse position and Ellie was pulled out first, one minute before Connor. Elli was 6lb and Connor 7lb 3oz. No wonder I couldn't walk! After the birth, blood tests confirmed as expected that Elli is clear of CF and Connor is a carrier.

One day Amelia may ask us why we wanted so badly to have a child without cystic fibrosis. It is a difficult thing to explain to a child. We love all our children equally and feel that this way we are able to give each one of our children the time, attention and love they deserve.

The joy we have experienced in our twins makes all the anxious moments, needles and processes worthwhile. We feel so lucky that it worked so well for us. The twins are such a delight and loved so much by their big sister!


AGSA – Sat, 18/06/2005 – 14:08