Finding cures for children's genetic diseases

Millie's Story

Millie-Holt-(1).JPGNo parent looks forward to their child getting a tummy bug, but for Terri Holt, she has just minutes to provide her daughter Millie with a life-saving injection or she could die.

Millie, who is almost four, was born with Adrenal Insufficiency, which is a hormonal condition that affects the adrenal system caused by the deletion or mutation of the DAX 1 gene.

It is a very rare condition, and the symptoms can vary in severity. Millie has the most serious form where her body doesn’t produce cortisol and is unable to retain salt, which affects her body’s responses to stress and severe illness.

“She takes synthetic cortisol tablets, but if she broke a bone, or even got gastro, she would have to get an injection and then we need to get her to hospital,’’ Terri said. “If she doesn’t get that injection, she can go into a coma. We haven’t had to deal with that yet, but people have died from not getting an injection. If we don’t recognise that she is having an adrenal crisis, she could have only 40 minutes to get the injection.’’

Terri said, during Millie’s first year, it was difficult dealing with a child with a life-threatening condition. Adrenal insufficiency is very rare, and she struggled to find support from people who could relate to her situation.

“Many GPs don’t always understand what we’re dealing with,’’ she said. “Sometimes it’s a real guessing game, but we have found some other families overseas and in Australia that we’ve connected with.’’

The family also found it important to connect with Children’s Medical Research Institute and fundraise as part of Jeans for Genes Day to bring attention to rare genetic conditions.

“We’ve done Jeans for Genes for the last few years since we had Millie, because we want to help other families who don’t know what they’re dealing with,’’ Terri said. “The more research, the more these families can be helped. It might not help to fix Millie’s condition but just knowing what it is, that’s the start of trying to cope with it all.’’

One day we will beat childhood diseases. Until then, we need your support.