A brave mum shares her story.
When I first contacted new mum Kylie, her 16-week-old baby Brianna was in hospital battling acute bronchitis.
She’s home now, however, since her birth in February, little Brianna has spent a lot of time in hospital. She’s been admitted seven times, in fact, due to her battle with Dopa Responsive Dystonia, a rare genetic disease that her mother was also born with.
We spoke about how they were coping – and how the Children’s Medical Research Institute (CMRI) was helping.
Q: When did you first notice that Brianna might be ill?
A: It was around two to three weeks of age I noticed her symptoms. I knew what symptoms to look for as I suffer from this disease. Dopa Responsive Dystonia, also known as Segawa’s Disease, is rare and in Brianna I started to notice with her left foot turning in and her head only turning one way and locking in that position, and other abnormal postures and tremors in the hands.
Just as an FYI, you should know that this is an advertorial for Children’s Medical Research Institute.
Q: How will it affect her as she gets older?
A: As she gets older and is more active, she will tire out easily as the day progresses and lack coordination.
Q: How have your lives changed since her birth and diagnosis?
A: Our lives have changed in the way we have to be more careful with her and when she starts walking she may fall over more frequently due to this disease, and when she is sick with things like the common cold it makes the Dystonia more painful and noticeable.
Q: You have your own health challenges to attend to as well, don’t you?
A: I have also been to hospital four times since her birth. Two of these times were for having Dystonic attacks. I’m currently recovering from a fractured foot and major ankle injury from an accident in April that requires surgery. That’s booked in for August.
