Annabelle’s Challenge aims to promote awareness and medical research into the rare, life-threatening and incurable genetic condition Vascular Ehlers-Danlos Syndrome (vEDS).
The rights to the images on this page are owned by Annabelle’s Challenge.
Title image shows Mia and her dog JJ, shared with permission of Mia’s parents.
Vascular EDS is a connective tissue disorder, which puts patients at daily risk of their internal organs and arteries spontaneously rupturing. It is so rare, affecting around 740 people in the UK, that many health professionals will never have seen a patient with it. People with vEDS bruise easily because their blood vessels are so fragile, and any knocks and falls can lead to dangerous ruptures.
The charity Annabelle’s Challenge – which received a Jeans for Genes grant in 2021 to support their vital work – was founded in 2013 by Jared and Sarah Griffin, after their daughter Annabelle was diagnosed with vEDS aged three. The charity offers vital support and advice for parents, guidance for schools, works with the NHS EDS National Diagnostic Service and supports upcoming clinical trials.
Bonnie Jackson, 32, from Chislehurst in Kent, knows what it is like to live with the ticking time bomb that is vEDS. Her seven-year-old daughter Mia Boxall (8 in July 22) was diagnosed in September 2021. With no family history of vEDS, Mia’s condition is what is called a novel case.
Mia was born five weeks premature and started showing symptoms of vEDS when she was five months old. She had significant bruising, severe fatigue, blood in the stools and nose bleeds. She also had hypermobility, vision problems, myopia, aches and pains, alongside very thin transparent skin.
“Honestly we have had a long tough road,” Mum Bonnie, a banking clerk recalls. “We were once blue-lighted to London with suspected sepsis as Mia had bruising all over her body. Her bruises were perfect circles, not like normal bruises. I found if Mia was over-exerted, she would have an energy ‘crash’ and bruising and bleeding symptoms. Then she would need complete rest.
“Mia was so tired all the time with severe fatigue. After seven years of constant fighting for answers through the NHS, being doubted, dismissed, I found a private genetic specialist. He was the first person to say he thought it was vEDS. I did my own research online and found Annabelle’s Challenge. I looked at Annabelle’s story and could see real similarities in the features of Mia’s case. Three weeks after genetic testing we got the results. It was a life changing moment. It was a shock, but with the diagnosis you get the full support.”
Bonnie, who has raised £15,000 for the charity, continues: “Annabelle’s Challenge gave us guidance; they were so informative. Without that website I don’t think I would have got through those weeks as we were able to access all the information we needed. The team at Annabelle’s Challenge instantly came down to meet staff at Mia’s school. They gave a talk and provided a health plan. I joined a support group and met other people with vEDS. I then volunteered to be a London co-ordinator.”
Mia attends school in the mornings but has to rest in the afternoon because of severe fatigue. If she is over exerted, the next day she’ll have nose bleeds. She has also had blood vessel ruptures in her eyes. At home Mia is happy playing with dolls, drawing and doing arts and crafts. Bonnie’s hope is that she will be able to increase her hours at school. Mia will start on beta blockers in the next year to help manage the condition, but there is no cure.
Bonnie says: “Mia is still the same incredible child, both pre and post diagnosis. Mia is a comedienne, she loves Lego, her dog JJ – a tiny chihuahua who loves cuddles – and movie making. We focus on what Mia can do instead of what she can’t. We make the most of every day, doing the little things that make her happy. Mia is always smiling which is the most important thing to me and all those that love her. Mia has a lovely group of friends, and the school is very supportive. During breaktime the school have provided ‘loom bands’ for Mia to make with her friends.
I would literally move mountains and journey to the end of the universe to find a cure for vEDS. The joy and hope Mia brings me, gives me the strength to never give up.”
Bonnie says: “I couldn’t imagine being on this journey without the charity behind me, supporting us. It would be impossible. My mission now is to raise awareness of this cruel condition and funds to support Annabelle’s Challenge so they can continue their fight for education, research and support for families affected.”
Jared Griffin, founder and CEO of Annabelle’s Challenge, says early diagnosis is so important and it is vital to support families right from the point of their child’s diagnosis.
“With the charity’s support you know you are not on your own,” he explains. “We find if children are diagnosed at a young age, then it is easier to put support in place. Families become their own experts. We are there to support families through the diagnosis, support in school and a plan for activities and PE. We go through what their child’s needs are now and what that needs to be in the future. We talk about the fact it is a life-threatening condition and have an ambulance protocol for emergencies.”
Jared’s own daughter Annabelle was three when she was diagnosed with vEDS. Now aged 13 she is doing well.
“Annabelle will openly say it is like a ticking time bomb,” Jared says. “vEDS can affect people in different ways, even in the same family. No two individuals will go through the same experience. It is the worst of the EDS conditions.
“No family should go through it on their own. Families are now signposted to the charity when their child is diagnosed. Our patient co-ordinators ring to say, ‘have you got the information pack, let’s hold your hand’.”
The Jeans for Genes grant goes towards the cost of the annual charity conference, the first this year since the coronavirus pandemic. Families benefit from sharing experiences of the condition and can meet medical experts in vEDS. The charity has also taken 20 families to Cadbury World.
Jared adds: “Families do want to meet each other. They want to build relationships and support each other. We find more often than not; families have never met anyone else with it. We actively support pairing you up with another family, so you know you are not alone.
“On the research side, there are two clinical trials commencing, one in the UK and two in the USA. A clinical trial is starting soon with a drug that cuts incidence by 60%. I didn’t think this would be possible in Annabelle’s lifetime.”