Tanya – Speaking for IDFNZ at ASCIA 2024

In September I was privileged to travel to Adelaide, South Australia to speak at a session at the Australasian Society of Clinical Immunology and Allergy (ASCIA) Conference. IDFNZ very graciously covered my flights and accommodation to enable me to share my daughter Stella’s remarkable story with medical professionals across Australasia. My partner Justin stayed home to care for our two girls, Stella (6) and Aster (2). I was accompanied by my dear friend Grace who provided me some much-needed moral support and a familiar face to look to during the session. I was joined at the conference by Janet and Judith from IDFNZ.

The session was a “Fireside Chat” model hosted by Dr Jovanka King on the topic of Newborn Screening for Inborn Errors of Immunity. Our daughter Stella was born with Severe Combined Immunodeficiency (SCID) which was thankfully picked up by Newborn Screening. Due to early detection and isolation she stayed well until she was able to receive a transplant at 4 months old. I was delighted to share her story and prove to a room full of medical professionals who are passionate about Immunology how successful Newborn Screening can be.

The session was introduced by Jovanka who then handed over to Australian Javeria Ahmad who shared her family’s very moving story about their experience with SCID. Her first child was diagnosed with SCID too late and sadly passed away before receiving a stem cell transplant. Knowing SCID was a genetic possibility, Javeria’s second son was able to be diagnosed and treated early - he is now nine years old and thriving. Javeria went on to share their story publicly and fiercely advocate for Newborn Screening in NSW; thanks to Dr Melanie Wong and team they achieved that goal in 2018.

Dr Melanie Wong spoke about how the process of getting Newborn Screening in place played out in NSW and then throughout Australia, logistically, politically and financially.

Dr Shannon Brothers went on to share how Newborn Screening for SCID was implemented in New Zealand. She explained the funding hurdles and the politics behind the roll out. It was fascinating to hear how they detect T-Cells from the tiny sample of blood collected. Shannon also shared data on how many babies had been detected since screening was implemented and the other conditions, aside from SCID, which are able to be detected. Shannon, Dr Jan Sinclair and team had been working on getting Newborn Screening for SCID in place since 2012. A reminder of just how lucky we were that it was implemented in time for Stella’s arrival in 2018 - which I believe only happened off the back of an election year!

The panel also included Professor Manish Butte from UCLA in California – who was instrumental in implementing Newborn Screening in California. The hurdles they faced differed slightly from Australia and New Zealand due to America’s healthcare funding model. He shared an anecdote of an almost comical situation where a baby with SCID was kept in a public waiting room, while Prof. Butte waited in a consult room thinking the family was late, but in fact they hadn’t been let past reception because the newborn baby didn’t have insurance. He also touched on the logistical complications with such a geographically large area – in terms of getting samples and babies to the required locations promptly.

The panel was rounded out by Professor Karin Kassahn who moved the conversation onto a look to the future. Karin is a genetic scientist who explained the truly remarkable amount of information that can be detected at birth from DNA. She is currently working on a project considering the ethics around what information should be looked for through genomic newborn screening and the impact that could have on the infant and their families, treatment paths, etc.

Of course, my understanding and summary of the session is through my lens of an immunology patient parent. After the session I found myself contemplating the very real fact that our babies could live or die based on funding and politics and just how lucky we are to have amazing doctors working so hard to get screening in place. My other takeaway was the exciting impact genomic newborn screening could have on the health of the generations to come - if the funding comes through and the politicians are on board.

After the session I got to chat with those on the panel and other conference attendees. It’s always pleasant to see our wonderful Immunology team outside of hospital appointments.

I also finally got to give a huge hug and thank you to Jan Sinclair who was so instrumental in getting the screening in place that saved Stella’s life.

Overall, the experience was fantastic, it was great to learn about what goes on behind the scenes and all the work involved. I enjoyed being challenged to think about new ideas. Adelaide is a seriously underrated city and I thoroughly enjoyed looking around the beautiful old buildings, going to the museum, and tasting some delicious South Australian wines. Whilst I thoroughly missed my family, I revelled in the first break I have had since having Stella six years ago which was made even better by sharing that time with a friend and having great chats with Janet and Judith over breakfast.