Hi, I’m Elizabeth, I’m 27 years old and was diagnosed with HSP on the same day as my mum in July 2012.
I grew up and have spent my whole life in Western Sydney as one of 4 girls in the family. While I had some symptoms from early on, I loved being outdoors all the time, and playing netball was a favourite for me. The doctors told mum that I had mild cerebral palsy when I was 2 or 3 and I remember having both legs in plaster casts from knee to toe for about 6 weeks at a time on at least a couple of occasions, but that didn’t do any good because it wasn’t cerebral palsy.
I finished school in 2004 and worked in retail, which I like, but it was a struggle being on my feet so much as it hurt a lot. Then I got married and had a family – 2 boys, now 8 and 6, and 2 girls, 4 and 3 years old.
So I am a full-time mum and the kids are all in school or pre-school. I have been the team manager of my second son’s soccer team for the last 2 years and enjoy that a lot. I still walk independently, but it is very hard and my symptoms are definitely worse.
My mum started getting symptoms herself a couple of years ago and we started to have doubts about the cerebral palsy which is what I thought I had all these years. 6 of us in the extended family got tested and mum, myself and one of my sisters who does not show any symptoms were found to have SPG 4 HSP. I got so worried for my kids and had them tested. My older girl was found to have the genetic mutation and fairly recently has started to show some symptoms too. She has regular physiotherapy and occupational therapy at school provided by Northcott Disability Services who are great. I try to be positive and I am ecstatic that the other 3 kids don’t have it.
It is hard being a full-time mum with 4 kids and having HSP. I am pretty good getting out and about and have found a women’s group that I like a lot called the WASH House (Women’s Activities and Self Help). I would like to be employed in the workforce again and hope to get that opportunity in the future when the kids have grown up some more.
I haven’t had a chance to tell my family’s story here yet, but it’s good to be able to read about other people’s experiences with HSP.
I also live in Western Sydney and while I am not a sufferer of HSP, my 9 year old daughter is. After 4 years of tests and doctors, earlier this year she was diagnosed with SPG8 HSP. Her father also has the mutation, but is currently asymptomatic. We have been waiting hopefully since February for the results of my 7 year old daughter’s tests.
I’m so pleased for you that your other three children don’t have it, that’s wonderful news!
Best wishes to you and your family