In CHARGE the R and G go together because the R stands for restriction of growth and development and the G is for genital abnormalities.
I am only 144 centimetres tall and a good weight for my size. I had hormone replacement therapy when i was in my teens and in my 20s. This has helped but I have had a some very heavy bleeding problems due to my tummy not absorbing properly.
I also had infusions for my osteoporosis which helped and I no longer have problems there. My reproductive organs are small but it is ok.
Developmentally I needed lots of therapy as a baby to keep me up with people my age. Most people with CHARGE need this. I had early intervention, occupational therapy, speech and physio. Nowadays I’m doing great though I do have problems with keeping a budget and with grammar.
People like me can also be socially delayed and I am no exception. I tend to say things without thinking. I also sometimes want to hug my friends or family too much and be with them all the time.
Christmas is coming. So many people go mad at this time of year with shopping and parties. I love this time of year. I love being with family and friends. I feel though that people forget the real holiday and go crazy on the material things. For me ir is who i am with that matters
Every year on the first Tuesday after the American Thanksgiving holiday there is a day called Giving Tuesday. This is where people dig deep and give to a charity of their choice.
This year is the CHARGE syndrome associations first year doing this and so far we have raised close to 2000 dollars.
Some of the money goes towards our biannual conferences,with the next one being in Hobart, Tasmania for the first time. Money is also put towards special projects like our online CHARGE course that is being developed and our outreach and CHARGE assist services.
The association was founded in the late 1980s/early 1990s, with our first confrence in 1994. It was founded by a group of families, mine included, and since then has supported many families. In 2017, I joined the board of directors as the director for New South Wales, because I wanted to help others like me and give back to an organisation that has been part of my life for so long.
I have seen first hand the benefits a conference or even just a small family meet up can have on people. Friendships are made, parents see they are not alone and we also are able to share ideas and thoughts.
The online course being developed aims to teach others about this complex syndrome and is run by us and the University of Tasmania. This will be online and will cover all aspects from medical to education and therapy.
Our outreach helps to connect families and works with the CHARGE champions in each state to connect more families. CHARGE assist helps to support families on the professional scale and can link them to different services.
We are very thankful for the generosity of people who donate. If any of my friends or family want to contribute, please head to http://www.chargesyndrome.org.au and hit donate now.
Lately I have had a few people say they are sorry to hear I have CHARGE syndrome. That upsets me because I was born the way I am.
I dont mind if someone says they are sorry I am in pain, but it is hard when people are sad for me being a bit different.
I also hate when people say I will be healed, because you can’t heal genetics. If you could, I would have been healed before mum even had me.
I feel people should look at the things we can do. This helps people to feel better about themselves to. People also need to understand disability better.
This is one of the reasons I like to spread awareness about CHARGE syndrome, to help others understand more about my rare condition and to spread awareness.