I went down to Westmead Children’s Hospital today for Liam’s annual review.
A long day all around, with bribes of chocolate and Kinder Surprise eggs only taking so much edge off the tears and the kicks when we made him undress for assessment, or held him down for the x-rays. Because that’s what you do to three year olds to check how they’re going.
Charged with the responsibility of making a decision about what to do for Mum’s birthday (which fell ON the Queen’s Birthday holiday this year) I detoured via Hippo Espresso on my morning walk that day, in the bucketing rain, to pop my head in and make a booking at the most child-friendly cafe I’ve been to in Newcastle.
Hippo doesn’t have the best reputation for speedy service, and ordering at the counter is a pain, but if you have toddlers or other aged kids in tow they have a play area up the back, complete with decent blocks and books, and the waitstaff are extremely understanding of spilled drinks and half-eaten sugar packets. Liam had a grand time running around the cafe, meeting and greeting new friends.
Mum wondered if she was allowed to have pancakes with ice cream and chocolate topping. It’s your birthday! Of COURSE you can have pancake with ice cream and chocolate topping. In fact I insist! (my sister also had them)
Corn and ricotta cakes for me, with truss tomatoes and pesto. Yum! Oh yes, and bacon.
The Hippo Omelette for Dad. No hippos in it though :(
Because I want there to be a place for parents with kids with Spondylmetaphyseal Dysplasia to find each other. Even if just to look at each other and realise that there are other who have no idea how this will all turn out for them.
While his six month old sister has learned to crawl, and with good pace, when there is food around. Liam left the crusts of this peanut butter toast on his plate, and Ez was after it and had it straight in her mouth.
Same with the cake bits Liam dropped. Ezri’s head turns, spots them, and she’s off!
A rare disease in Australia is defined as one which affects 1 in 10,000 people or less.
There are up to 8000 known rare diseases, the majority have a genetic origin.
Although each disease is rare, collectively they affect up to 10% of the population.
That is up to 2 million Australians of which up to 400,000 children.
Rare diseases can be life-threatening or chronically debilitating.
Most begin in childhood and continue throughout life.
Obtaining a definitive diagnosis is often difficult and delayed, if diagnosed at all.
Neurological and intellectual disabilities occur in about half of all cases regardless of disease type and lead to a loss of independence and opportunities.
Many rare diseases have no cure
In Australia, the Steve Waugh Foundation is dedicated to supporting those with rare diseases and their families, as these kids with ‘orphan’ diseases often don’t fall under established support and funding services.
Dear little nephew Liam is one of the kids who falls under the umbrella of rare conditions, with his Spondyloepimetaphyseal dysplasia. With something the local therapists have never seen, and the specialists only come across rarely, it can be hard to get answers and to know if you’re on the right track with monitoring of development.