"Share the Love - Claudies Cause."

The day our daughter took her first steps, my husband and I cried. Now, this might not be so rare, to have a bit of a teary when your child reaches a milestone...if it wasn't for the fact that our beautiful daughter, Claudia, took her first steps at age 8 - after being told she would never crawl, let alone walk. After 10 long years of hospital waiting rooms, many a time over 100 seizures a day, countless needles, uncomfortable opps, tears and trauma...& the immense frustration that comes from no answers anywhere again and again (and again), our daughter was diagnosed with Congenital Disorder of Glycosylation type 1e in short (CDG1e) or as we like to call it around our house (Claudia Doughty Gorgeous 1st ever)! So yes, myself and my husband Neil cried and cheered and then we danced around the kitchen hugging and bawling. And Claudie smiled with us. It was a good day.

As well as her cheeky grin, sense of humour and loving nature, Claudie is unique for being the only diagnosed case of CDG1e in the whole of Australia, and only the eighth in the world. She’s tube fed through a hole in her tummy, and doesn’t have any language skills - so talking to mum & dad like so many others take for granted just doesn’t happen. We fought for 10 long years of testing and frustration to receive our diagnoses for our darling daughter, only to realise that finally knowing her condition would be the tip of the iceburg. Whilst it was terrifying to learn that Claudie’s condition was so truly rare, we have taken comfort in the fact that out there in this world there are other parents, and more importantly children, who live with CDG of all different types day in and day out, just as we do. You can imagine our excitement and longing when we heard that there was to finally be some awareness and encouraged networking at only the 2nd ever World CDG Conference (and the first since we finally received Claudies diagnosis). As soon as we heard, we knew that, just as we had fought or so many years for a diagnosis for our daughter, we would fight to take her to that conference. It will be a truly priceless gift to be able to meet with specialists, doctors, parents and their kids to spread awareness and gain insight into such a rare disorder – with the overall aim of improving CDG1e children and their families lives.

That is why we have created Claudie's Cause. A 'Share the Love' fundraising goal to help our little family make the big trip to Lyon, France – to travel with Claudie to the CDG conference - Your help will mean that maybe one day there will be more answers, research and better outcomes for Claudie and other children living with CDG1e, and the families that live and breathe their fighting, generous and smiling spirits.

So please 'Share the Love' by sharing, liking, commenting and tagging those who you think would be able to 'Share the Love' for Claudie, and with your wonderful help we can help her spread her wings - all the way to France!

Your generous donations will help cover the costs of Flights, Accommodation, Travel Insurance, Medical history translation, and logistical travel expenses of traveling abroad with our brave daughter. Every little bit helps and we thank you for our support.

Claudie’s Cause: For our daughter. Because courage doesn't always roar. Sometimes courage is the quiet voice at the end of the day saying 'tomorrow, we will get a little bit closer.'

Thank-you for your support.

Simone and Neil Doughty, proud parents x