A Family Reunion

"Find your tribe", it's the advice I give the many parents of children with additional needs who contact me.  It doesn't matter if you child has a confirmed diagnosis, you need to find people who "get it", who understand what it's like to live 24/7 with a child who has taken you for a ride on the extreme parenting roller coaster.

We were lucky (I'm ever the optimist), Daisy received a confirmed diagnosis of Costello Syndrome when she was 6 months old.  At the time she was one of the first children in the world to be tested for the sporadic mutation on the hras gene which causes the syndrome, at the time we were told that it was so sporadic the chances of having a child with Costello Syndrome were 1:1.25million.

The Medical Symposium, the Ordinary Mum and the story of an Extraordinary Girl

I'm writing this in a somewhat jetlagged state......

Yes!  I made it, following my successful crowdfunding campaign I was able to fly out to Seattle to attend the Costello Syndrome Family forum and more importantly present Daisy's story at the Rasopathies Medical Symposium.

When your child has a rare disease (and an even rarer manifestation of the syndrome) then the chance to meet with other families and to discuss issues with the doctors at the forefront of research into the disease is immeasurable.

It is rare to be in the same room as children and young people who look so similar to my own daughter but at the same time it was bittersweet as it really brought home to me how different Daisy also is to the other children who share her gene mutation.

Overcoming my British reserve (all thanks to Amanda Palmer)

When I go to Glastonbury I prefer to wander around around, discovering music that I might not otherwise have heard if I stuck to a rigid list of bands I want see/the mass media suggests I see.

It was during one of these wanderings in 2013 that I found myself at the Other Stage watching the most amazing crowdsurfing I had ever seen.  I saw this incredible woman being carried across the crowds with a huge train billowing behind her, and all the time she was singing, a strong powerful voice, a strong powerful song.  This was my introduction to Amanda Palmer.

Amanda Palmer Crowdsurfing at Glastonbury 2013 (from glastonburyfestivals.co.uk)

Rare Disease Day 2014

28 February 2014 marks the seventh international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from more than 70 countries and regions worldwide are planning awareness-raising activities under the banner “Join Together for Better Care”.