Annabelle Griffin

Testing times

Knowing that this could not be normal and that they would have to keep fighting for answers, Annabelle’s parents repeatedly pushed their GP to be referred for tests.

The search for a diagnosis continued for three years, with numerous hospital visits and appointments, to try and find answers. Initial blood tests all came back clear, but the doctors agreed it couldn’t be normal to bruise so easily, so the family next visited the haematology team at Royal Manchester Children’s Hospital for more tests. It was at this stage that Annabelle was diagnosed with a bleeding disorder called Von Willebrand Disease.

The haematologist decided it was a good idea to refer Annabelle to a dermatologist, due to previous injuries and the fact that her skin was so thin. The Consultant Dermatologist suggested Annabelle could have a form of Ehlers-Danlos and referred her to the EDS Diagnostic Clinic at Sheffield Children's Hospital.

Getting a diagnosis

On 17th October 2012, Annabelle and her parents headed to Sheffield Children’s EDS clinic. As well as taking photos of Annabelle and details of the family’s medical history, a biopsy was taken from her upper right arm.

This was the turning point for the family. Initially advised that results could take as long as six months, they were invited back for an ‘end of clinic’ appointment on 19th December, just two months later! Here, they received the news that Annabelle has vascular EDS, a mutation of the COL3A1 gene that just 740 people in the UK are estimated to have. This altered gene causes a lack or deficiency of collagen, making the connective tissue less effective, particularly in skin, lung, uterus, intestine and the vascular system.

Moving forwards

Determined to do something, Annabelle’s Challenge was launched on 11th January 2013 with the aim of raising awareness of the rare and life-threatening condition.

Within months, they achieved UK charity status and a media campaign was launched. Since 2015, the charity has hosted the world's first Vascular EDS Conference, with EDS UK & EDS Diagnostic Service, received The Queen's Award for Voluntary Service (the MBE for volunteer groups) and ran retreat weekends to support families touched by vEDS.

To support Annabelle, her parents also looked for a way in which her medical information would be available if she were in an emergency or ever unable to speak for herself. Just two months after her diagnosis, in February 2013, Annabelle became a member of MedicAlert. She chose a small baby pink Sports Band that she wore everywhere she went! Motivated to support others in the same position, the charity now provides all its members with free MedicAlert membership for one year, as well as a £5 discount towards their first piece of MedicAlert ID jewellery.

“We joined MedicAlert UK in 2013, shortly after Annabelle’s diagnosis of vascular EDS. Her bracelet provides us with peace of mind in the case of a medical emergency, which could happen at any time living with this condition.”

Find out more about Annabelle’s Challenge and their member programme providing free MedicAlert membership:

ANNABELLE’S CHALLENGE

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