Sally* arrived safely after a speedy natural delivery. My husband and I were overjoyed and completely in love with our little cherub baby. We were high on the natural hormones from the delivery and had educated ourselves about breastfeeding. I had the most wonderful skin-to-skin cuddle with Sally right after she was born and was patiently waiting for her to crawl down my chest and latch onto my nipple.

But it didn’t happen. The midwife hand expressed the colostrum for me and we fed it to Sally in a syringe. Then she turned blue. This was the first sign there was something seriously wrong with the health of our baby. Two hours later she was being seen by a paediatrician and diagnoses such as Tracheoesophageal fistula were raised. We were in shock. Sally was soon transferred to the Royal Children’s Hospital Neonatal Intensive Care Unit (NICU). The whirlwind began. The tests started. Test after test after test.

The many medical teams she saw could not work out what was wrong. We went from feeling relieved that all the tests were coming back negative, to deeply worried that there was a problem no one could put their finger on. A big concern was the fact that she was floppy.

I was very emotional during an important meeting with the neonatologist to discuss how things were progressing. The doctor told us they were looking for neurological conditions. I was floored, grief stricken, and panicked. They wanted to do some genetic testing to look for a short list of conditions they thought Sally might have. The tests would take up to six weeks to come back. The thought of having to wait so long for results was a heavy burden to carry.

We were lucky to be offered more extensive genetic testing, called exome sequencing, through a research project being run by Dr Zornitza Stark and Sebastian Lunke from the genetics team at Australian Genomics and the Victorian Clinical Genetics Services. I thought of it like a fishing exercise – they would look at all of Sally’s DNA for mistakes, and then see if those mistakes were inherited by checking my husband’s and my DNA. The results came very quickly – within three days. After being told that we had to wait up to six weeks for other results, a three-day turnaround was lightning fast and so helpful emotionally: we did not have to endure another long anxious wait.

At five-weeks-old Sally was diagnosed with a genetic condition, a myopathy, which meant her muscles had not formed correctly. This explained her floppiness and poor feeding. We finally had our answer.

It was with both relief and sadness that we learnt of her diagnosis. Of course we knew there was very likely an underlying cause for her long hospital admission and difficult start to life. What the diagnosis has meant for her is that she has had access to early intervention since she was a newborn and is doing remarkably well.

She avoided having more invasive tests such as muscle biopsies, which would have required the use of an anaesthetic. Since we now know her condition is inherited – my husband and I are both carriers of a faulty gene – we will need to have IVF and pre-implantation genetic diagnosis (PGD) to avoid having another baby with the same condition.

Having exome sequencing has been a life-changing decision. Sally is thriving with all the amazing help and support she is getting through the specialist teams at the Royal Children’s Hospital and her allied health team. It is likely we would still be in the dark if we had not consented to the research project, as exome sequencing is expensive and not readily available. We feel fortunate and grateful to have been involved and hope that this sort of testing can be made available to other families who find themselves facing such health concerns.

* Name has been changed.

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