Sunday, 13 March 2016

Reflecting on Rare Diseases 2016 #22q13

Another year has buzzed by and we are yet again reflecting on rare diseases and how we care for people with these disabilities in our community.

On this rare diseases day, we don't need pity or a campaign to raise money, we just want to be acknowledged and for our governments to acknowledge this changing healthcare landscape by properly funding science and research into rare diseases.

Up to 400,000 children in Australia have a rare disease (condition that affects less than 200,000).

My son Nicholas is one of 70 children in Australia with his condition and 1 of 1000 worldwide.

Nicholas has started school this year, at a Special Development School and he is blossoming. His learning needs are severe as he is still non-verbal and has difficulty communicating. But we are kicking some goals as he learns how to communicate his needs to us.

His classroom ratio is 2:6, which is one Teacher and one Education Support Person.

When the days are good you forget that he has special needs.

But when they are bad, you wonder how you will get through the day in one piece. At the back of your mind, you worry about what the future holds for both Nicholas and his sister who will probably become his primary carer one day.

When he was born, just like every parent we believed that by the age of five things were going to get easier. At five years of age most kids are toilet trained, they can ask for items to satisfy basic needs and you are starting to have fabulous discussions with them about all sorts of things that they are discovering at school. But Nicholas comes from, and is living in, a different universe. Dani's blog post on "Welcome to Holland" seems to explain our experiences quite well.

But we are celebrating different milestones. We celebrate with a high-five when he remembers to put his cup in the sink, we do a happy dance when he laughs at his favourite television show and we are proud parents when he receives a merit certificate for communicating that he wants "more" of something.

He is reaching milestones, just 3 or 4 years after we thought he would and the milestones need to be continually reinforced or else he will forget.

Our hope for the future is that at some point there might be some gene-splicing technology which will give him back some ability to become a functioning member of society. The research is there, what our researchers need is funding.

At the moment medical breakthroughs are driven by corporate interests, perhaps we need to take a more socialist view of medical research and realise that the dollars put into funding rare conditions will in effect make society a better place for all.

1 comment:

Dianne said...

So glad to hear that school is going well. I know a little boy (in the ECIS program at work) whose parents did not want to send him to the SDS - until they finally came to visit the school, and then they enrolled him straight away! I cannot speak highly enough of the SDS (ok I am slightly biased because I work there too!) but they do run such a fantastic program!