Annabelle’s story: Living with Ehlers-Danlos Syndrome

Meet 11-year-old Annabelle. When she isn’t getting creative with her arts and crafts, you might find her making her own music videos.

At just a few months old, Annabelle’s parents noticed she bruised very easily and without explanation. This might be from just tickling her chest or changing a nappy.

In 2012, it was suggested that Annabelle could have a form of Ehlers-Danlos Syndrome (EDS) and she was referred to the EDS Service at Sheffield Children’s. Following an assessment and skin biopsy, Annabelle and her family received the news that she had tested positive for vascular EDS.

There are 13 known types of EDS. It is the collective name for a group of inherited disorders, where skin, joints, blood vessels and hollow organs – such as the bowel and the womb – can be affected as a result of underlying defects in connective tissue. Connective tissue is involved in all organs in the body and helps support them.

The main EDS diagnoses made by the Service at Sheffield Children’s are classical EDS and vascular EDS. Vascular EDS is a rare type of EDS and could be considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening consequences.

Annabelle’s dad, Jared said: “Receiving the diagnosis of vascular EDS was devastating for our family, we knew from that moment our lives had changed. However, it was a turning point as we finally had a diagnosis. Despite all our worries and concerns, Dr Glenda Sobey provided us with advice to help us keep Annabelle as safe as possible living with this condition.

“It is also reassuring to know that if we have any concerns we can contact Jessica Bowen, Genetic Counsellor, who has been with us from the start of our journey with vascular EDS. The care provided by all the team at the EDS Service is outstanding and for a rare disease is highly commendable.”

There is no specific treatment for EDS, but Annabelle has been encouraged to take up cycling, walking and physio to help manage it.

The EDS Service at Sheffield Children’s is one of just two NHS England bases for EDS diagnosis for both children and adults, the other is in London, although all samples come to the Sheffield Children’s laboratory for testing. During the COVID-19 pandemic, the Service has still provided excellent care to patients.

Dr Glenda Sobey, Lead Consultant said: “We have a unique team with both the full clinical and laboratory service together and can thus offer a comprehensive service. We join patients on their journey from diagnosis onwards – that’s very important.

“Our team have ensured that the many complex aspects of our work have been kept on track to ensure a smooth patient pathway throughout this challenging period. We have continued with genetic testing and appointments – either virtual or face to face depending on the situation. As we are a highly specialised national service, our patients come from across the country. We have also continued our joint clinics with the inherited cardiac conditions cardiology team for vascular EDS.”

The Service is commissioned by NHS England to see 200 new patients each year, and have now seen 190 patients with vascular EDS like Annabelle.

Annabelle’s Challenge, a charity set up in her name by her parents, helps support others affected by vascular EDS. You can find out about their work on their website.