Rare Disease Day- The continuing story of Annabelle and Vascular Ehlers Danlos syndrome

I wrote about little Annabelle for rare disease day last year, and as much as there are lots of things I could I have opted for this year, I wanted to do another post. I have followed her story online for a few years now after coming across a twitter account her parents run. There have been a few stories in the media similar to Annabelle's (known as AJ or Bella) but overall, as VEDS is a rare disease, coverage is rare too. 

Her wonderful family set up a registered charity in her name, and now raise awareness through social media, events, their website, fundraising and media coverage in their local area. On Rare disease day this year they are launching a new website. 

Stories like AJ's and the work that charities like AJ'S Challenge do are so important in the rare disease community. Having just turned 6, this little lady is juggling both her conditions and being a normal child, and this is the case for many children with rare but serious conditions world wide. 

Here's a little more info about AJ and the charity: 

Annabelle's Challenge is a UK registered charity raising awareness of Vascular Ehlers-Danlos Syndrome (vascular EDS) to both the general public and medical profession to help aid an early diagnosis and prevent misdiagnosis of vascular EDS and to support patients who are affected by the condition.

The aim of Annabelle's Challenge is to raise awareness, support patients and families affected by vascular EDS and to encourage the medical profession to progress further with research into finding a cure.

At just 3 years of age Annabelle was diagnosed in December 2012 with Vascular EDS, it is a life threatening and incurable genetic condition and is the most serious variation of EDS, weakening the collagen in her tissues of the body and making her prone to possible arterial or organ rupture.

A torn artery can cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Although serious problems are rare in childhood, more than 80% of vascular EDS sufferers experience severe complications by the age of 40.

Annabelle also suffers from rare blood disorder von Willebrands, with most children an accidental knock might only leave a slight mark but for Annabelle she comes off much worse with either excessive bleeding, deep bruising or even open trauma wounds requiring medical attention.

Her blood does not clot very easily and when factoring in the vascular EDS we have to watch her every move, not easy for anyone with a six year old that just wants to lead a normal life like any other child of her age.

So far this year Annabelle is doing great but we can’t ignore the fact she is a ticking time bomb, at any time day or night she could suffer from a spontaneous and ‘significant’ event which could end up in a visit to A&E or sadly worse case it could prove to be fatal without any warning.

To help raise awareness of the condition around Rare Disease Day, Annabelle has recently taken to the field with her local football club Bury FC as their mascot. During the match day visit Annabelle met with the manager and players and raised awareness of Vascular EDS before proudly walking onto the pitch with the players in front of the crowd.

Please do check out the new website http://www.annabelleschallenge.org/ and find out more about Ehlers Danlos and the challenges faced by parents of children with rare disease. Events like Rare Disease Day give patients, families, friends and doctors a chance to have a voice and make changes, so please share this in the hope it can help another parent, person, child, friend or doctor put together a puzzle. 

Join forces for Rare Disease Day 2015

Rare Disease Day takes place every year on the last day of February. The idea behind the day itself is to raise awareness, both among the general public and decision makers. This is a day for people affected by rare disease to have a voice and make a splash. People are encouraged to come up with events and take part all over the wide, meaning often patients who would never normally connect with each other have an opportunity to.

This is a perfect chance to to do something, no matter how small, to support those who are impacted by rare disease, patients, families, friends, anyone and everyone. Since being launched in 2008 by EURORDIS, many events have been set up and ultimately a great deal of coverage which is often hard to come by, has been picked up and spread by the media.

If you are interested in learning more, finding out about events, or supporting the day yourself, visit the website.  You can also connect on Twitter- @rarediseaseday and on Google+ +rarediseaseday . 

My last post dedicated to RDD was about Annabelle, a young lady who has a rare type of Ehlers Danlos syndrome. This year I wil be following up with an update about Annabelle and the charity her family have set up, so look out for that.

Remember if you personally are impacted by a rare disease, want to raise awareness or stand up for someone you know, February 28th is a great chance to do it.