Annabelle's Journey

Searching for answers

Annabelle was born on 25th February 2009 weighing 6lb 5oz. We noticed as a baby Annabelle bruised very easily and without explanation, this would occur just from simply tickling her on her chest to the upsetting sight of her having finger marks and bruises on her legs when holding them whilst changing her nappy.

For any family it would be very difficult trying to keep yourself together knowing your baby has some sort of medical condition especially an unknown condition yet to be diagnosed.

The bruising on Annabelle was now a daily occurrence and most often unexplained, we also had the added pressure and upset witnessing people pre-judging us, even within the A&E department, we knew we had to keep fighting for answers!

Unfortunately for some families the sight of these bruises would trigger the intervention of social services and possible removal of a child due to suspected child abuse, this is something to be very aware of, so kept a diary and lots of photo's just in case.

When Annabelle was only twelve months old, she had an unexplained bleed from her right eye, no trauma impact that we were aware of, the consultant suggested it could be from Annabelle knocking her head on the side of her cot! The blood seeped from her eye, covered her cheek and cot, so you can imagine how frightening it was for us as parents when we went into her bedroom to do the normal checks to witness our little girl experiencing these issues, something we expected and assumed she would grow out of eventually.

Our two eldest sons never had issues like this which made us more determined to push our GP to have Annabelle referred for tests. The search for a diagnosis continued over the next three years with numerous hospital visits and appointments to try and find answers.

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More blood tests were carried out all of which came back clear, however on one occasion the nurse was horrified that she had left her hand print on Annabelle and agreed it wasn’t normal to bruise so easily and referred us to the haematology team for more tests!

It was at this stage Annabelle was diagnosed with the bleeding disorder, von Willebrand. The haematologist decided it was a good idea to refer her to a dermatologist because of previous injuries and the fact her skin was so thin.

The Consultant Dermatologist suggested Annabelle could have a form of Ehlers-Danlos and referred her to genetics in Manchester and then to the EDS National Diagnostic Service at Sheffield Children's Hospital.

Genetic Test

On 17th October 2012 at 11am prompt we arrived for our appointment at Sheffield Children’s EDS clinic, during the appointment they took photos of Annabelle, discussed our family history and many more details, all the time during the appointment it was hard to concentrate as Annabelle was in her usual full on hyper mode. We then waited in the reception area for a short while before being called for her skin biopsy.

Due to the size of the treatment room it was decided Jared would go in with Annabelle for her biopsy, she was in high spirits, laughing and smiling, little did she know what was about to happen. Jared and Annabelle held each other’s hand during the biopsy, they then took the skin from her upper right arm and within seconds Annabelle instantaneously squeezed Jared's hand so tight with tears streaming down her face.

Jared said to Annabelle “We are so sorry for the pain but this will hopefully lead us to finding answers for you” this was heart breaking for any parent but had to be done.

Devastating News

This was a defining moment, as parents we knew this could be a turning point for our family. We left clinic expecting the results from the biopsy to take around six months. However, just over a month later we were notified that some early results came through indicating that further testing was to be carried out and to expect the final results in early January 2013.

On the 14th December 2012 we received a call from the genetics team to inform us the results had arrived and could we could go back to Sheffield for an 'end of clinic' appointment a week before Christmas, at this point we knew it must be a positive diagnosis.

Just five days later on the 19th we attended clinic and received the devastating news that confirmed our Annabelle has vascular EDS. The journey back home was surreal, but we had an answer, no more searching for a diagnosis.

Our lives had changed forever, Annabelle's Challenge had begun!

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Our History

February 2009

Annabelle was born on 25th February 2009.

Weight 6lbs 5oz.

October 2012

3 years of unexplained bruising & skin tears finally led to a suspicion of EDS and a skin biopsy being taken.

December 2012

Annabelle was diagnosed with vascular EDS on 19th December 2012. At that time the youngest in the UK aged three.

January 2013

Annabelle's Challenge was established on 11th January 2013 to help raise awareness of vascular EDS.

May 2013

Media campaign launched by Elizabeth Wilson featured on ITV, the national press and front page of the Bury Times.

May 2014

Annabelle's Challenge achieves UK charity status, a major milestone during May EDS awareness month.

May 2015

REDS4VEDS Day launched in May 2015, now an annual campaign to wear red and share on social media with #REDS4VEDS

May 2017

We host the world's first vascular EDS Conference with EDS UK & EDS Diagnostic Service.

200 delegates attended.

June 2018

Annabelle's Challenge proudly receives The Queen's Award for Voluntary Service.

The MBE for volunteer groups.

September 2018

Our first ever family retreat weekend in Blackpool with 30 families touched by Vascular EDS attending.

November 2019

We jointly fund our first ever Vascular EDS Research Project at Northwick Park Hospital with EDS Support UK.

March 2020

New VEDS regional support groups launched across the UK. First meeting took place at The Leys just before national lockdown.

April 2021

Ayto BioPharma announces vEDS clinical trial to evaluate the effectiveness of Enzastaurin in preventing cardiac or arterial events in patients with vascular EDS.