Sara James: fighting for my daughter

Sara with Jacqui: "What we all love about Jacqui is that she is so funny, she makes us laugh so much. That's her gift."
Sara with Jacqui: "What we all love about Jacqui is that she is so funny, she makes us laugh so much. That's her gift." 

They live more than 15,000 kilometres apart, have known each other for less than a year and only recently met in person for the first time. But Sara James and Scotty Sims share a unique bond as mothers united in the fight to find a way to give their children the best lives possible.

"It was the most unbelievable thing, I walked in and I felt like I already knew this woman," Sara said of the first time she met Scotty in Chicago last month, "I felt like we were sisters."

The immediate connection between the two women is not surprising considering their daughters are among only 90 people in the world known to suffer from the genetic disorder KCNQ2.The condition means Sara's nine-year-old daughter Jacqui and Scotty's daughter Harper, 2, suffer seizures, have behavioural issues and severe developmental delays.

Sara (sitting) watching Scotty Sims speak with other families at the KCNQ2 meet-up in the US last month.
Sara (sitting) watching Scotty Sims speak with other families at the KCNQ2 meet-up in the US last month. 

Scotty got in touch with Sara after searching for other KCNQ2 families online and coming across Jacqui's struggle in an episode of ABC's Australian Story from last year.

"When you have a child with a mysterious condition, finding out what it is is crucial,'' Sara says of the reasons behind Scotty's worldwide search for KCNQ2 families. "I think it's hardwired into us as mothers to find out what's wrong. When were were told we had a child with KCNQ2 it was like we reached the end of the internet, there was nothing about it anywhere."

After communicating via email, American-born Sara flew to the US to meet Scotty's family and one other family whose son Jack has KCNQ2. The group also met with doctors in Houston who are conducting ground-breaking research into the cause and treatment of KCNQ2.

The trip was one several back to the US since the NBC correspondent left the bright lights of New York in 2008 for a life in her husband Andrew Butcher's quiet home town of Muckleford, Victoria, population 391.

The family's home, about 111 kms north-west of Melbourne, is a world away from Manhattan where Sara spent 15 years as chief reporter at NBC covering big news stories locally and around the globe.

But in her new book An American in Oz, Sara tells of her contentment with country life.  

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Sara and Andrew met when he was posted to the New York Post on exchange from Melbourne's Herald Sun newspaper when he was just 24. It was after meeting Andrew that Sara realised she longed to be a mother.

"When I was younger in my 20s I was fascinated by the opportunities I had in my career and I just wanted to see the world,'' she says."When I hit my 30s I thought 'I really want to have children', it was a really powerful feeling."

The pair married and had their first child Sophie while still living in New York. Sara says becoming a mother was every bit as wonderful as she had imagined.

Sara James, an Emmy Award-winning journalist and presenter who now lives in country Victoria.
Sara James, an Emmy Award-winning journalist and presenter who now lives in country Victoria. Photo: Eamon Gallagher

"Very quickly I thought, 'Oh my gosh, all those things I put my mother through, travelling to warzones, Sophie can't do that'," she remembers. "It was like switching sides to the part of mum as opposed to the part of kid.

"I found motherhood enthralling and bewitching. I became very aware of my overuse of superlatives, but that's how much I enjoyed it."

However, the arrival of the couple's second daughter three years later turned the family's world upside down.  

Sara knew straight away that something was different about Jacqueline when she did not cry. Jacqui then started having uncontrollable seizures  and the medication they gave her left the tiny baby unconscious. 

After exhaustive testing and a struggle to find the right anti-epileptic drug, Jacqui's seizures were finally brought under control. Her condition stabilised and she was diagnosed with complex epilepsy and an intellectual disability.

But after the family moved to Australia Jacqui's behaviour became more difficult to manage and Sara had to constantly watch her youngest daughter to ensure the little girl's safety and that of others.

Melbourne Paediatric Neurologist Ingrid Sheffer finally diagnosed Jacqui with KCNQ2 at eight years of age and at last the family had some answers. 

Sara says Jacqui will always need to be cared for, but is doing well at the moment. 

"She is doing great thanks to medication, stability, structure and the excellence of the school she attends," Sara says. "She has made a lot of gains in terms of her vocabulary and expressing herself. What we all love about Jacqui is that she is so funny, she makes us laugh so much, that's her gift.

"But she still has storms that kind of sweep over, but the storms are shorter and less severe."

And after the trip to America and her meeting last month with Dr Edward Cooper in Houston Sara is feeling optimistic about the future. There is no cure for KCNQ2, but Sara hopes that research and increased awareness of the condition will lead to better treatments.

"This research into the potassium channel which is the part of the brain linked to KCNQ2 is promising,'' she says. "It is part of the brain that should work really quickly, but in our children it doesn't and that causes seizures, developmental problems and disability. (Dr Cooper) was optimistic about the research and I'm very hopeful."

In the meantime Sara, Andrew and their daughters are enjoying life in the town which accepts Jacqui for who she is.

"Our little town is so welcoming to both our kids," Sara says. "If we are out with Jacqui and they can see it's been a tricky day, they don't bat an eyelid. That's my definition of home, when you feel comfortable that on a bad day people are still welcoming."

Thanks to their new friendships with KCNQ2  families around the world, there is also a growing army of people outside of Muckleford who can empathise with the family when Jacqui has a bad day as well as share in the joy of her achievements.

An American in Oz, by Sara James, is in bookstores now.