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 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.
Annabelle Griffin is a bright and happy five year old. She likes playing, and music and being a princess. Unlike most five year olds however, she is the driving force behind a newly registered UK charity.
Annabelle, or AJ is she as affectionately known, has vascular Ehlers-Danlos syndrome. VEDS is the most serious branch of Ehlers-Danlos, a syndrome that is not widely known of, especially, and worryingly, among the medical community.
AJ is at constant risk of a rupture of one of her internal organs due to a lack of collagen in her body, which could prove fatal. It can happen at any time, with no prior warning for her family. She was diagnosed aged 3. A detailed post on AJ’s condition and VEDS can be read here: http://bend-trend-hms.blogspot.co.uk/2014/02/rare-disease-day-annabelles-story-life.html
It is living with this constant fear and dealing with EDS on a daily basis that led AJ’s family to start a charity- Annabelle’s Challenge. May is Ehlers-Danlos awareness month, and it has seen Annabelle’s Challenge become a registered and official charity in the UK.
Parents Sarah and Jared along with lots of support in their home town, Bury, have already put on countless fundraising events and built up a strong presence on Twitter. Trustees behind the new charity are now calling on local people in Bury and beyond to come forward to help with fundraising and share their skills to help expand their work. Jared says: “As a small charity the trustees will need volunteers to help with fundraising and awareness campaigning and we are very grateful to everyone in the local community who have supported us so far helping us to raise £15,600 over the past year.
It is commonly said among the EDS community that the syndrome, which consists of different types, is not rare, just rarely diagnosed. EDS awareness month has seen a rise in blog posts and online discussion, with people across the globe helping to spread information.
Ehlers-Danlos has a long list of symptoms and complications, and can make life seriously challenging. Jared added: “The worst part of the condition is not knowing when a significant medical event could take place, she could simply be sat watching TV and without warning have a spontaneous rupture of her internal organs which could kill her.”
Earlier this year Annabelle suffered from an accident at home, a trauma injury to her nose required an emergency visit to A&E and a subsequent operation requiring plastic surgery under general anaesthetic. Jared says: “It was a very tense and emotional time for us as we were unsure how the operation would go because her skin is so fragile, the medical team had knowledge of Ehlers-Danlos Syndrome but not Vascular type. Unfortunately not many medical professionals are aware of VEDS – and this prompted our decision to register Annabelle’s Challenge as a charity.”
Annabelle’s Challenge will work with the EDS Diagnostic Service based in London and Sheffield to help provide support to newly diagnosed patients. It will also be raising funds to further the education of VEDS within the medical profession and general public.
You can keep up to date and read lots more about VEDS and AJ’s story here: http://www.annabelleschallenge.org/
EDS awareness month is continuing and by spreading information it can be hoped that people who either are affected directly or indirectly can gain more understanding of this complex condition.
Rare Disease Day- Annabelle's story. Life with Vascular Ehlers-Danlos syndrome.
Today is Rare Disease Day. A day for understanding and awareness for those suffering and dealing with rare diseases all over the world. This year is set to be the biggest yet, with more communities and countries participating than ever before.
Ehlers-Danlos syndrome is a rare disease that needs more awareness and attention, to stop people from looking confused or perplexed when it is mentioned or explained. It is also important for understanding among medical professionals.
The syndrome has seven types:
Annabelle Jane Griffin is five years old and suffers from vascular Ehlers-Danlos syndrome. This type of EDS is the most rare, caused by faulty collagen III, and is life threatening and incurable. The characteristics include thin skin, premature ageing of the skin on the hands, feet and shins, large eyes, nasal thinning and small ear lobes. The most threatening and concerning part of vascular EDS is the potential spontaneous rupture of medium/large arteries at any age, starting usually from mid-adolescence to later in adult life.
Arterial rupture accounts for the most deaths in sufferers of vascular EDS. A torn artery can result in internal bleeding, stroke and shock. The ruptures happen due to weak collagen in the tissue of the body and while most sufferers don’t have many problems as children, they will encounter serious problems by age 40.
Handling Annabelle’s illness is a daily challenge for her Bury based family- mum Sarah, dad Jared and two brothers Oliver and Ryan, who work tirelessly to both look after her and raise awareness. It is not just EDS that Annabelle suffers from; she also has Hypermobility syndrome and blood disorder Von Willebrand.
Annabelle, affectionately known as AJ, was diagnosed with Vascular EDS on December 19th 2012, aged 3. She is one of the youngest children to be diagnosed in the UK after months of tests and her family know of no genetic history of the syndrome.
Hypermobility syndrome, a hereditary condition which means muscles, tendons and ligaments around the joints are more supple and stretchy than normal, is already affecting AJ. She gets tired very easily from walking and can only manage short distances before needing a rest. It is possible to be hypermobile without feeling pain, however those with the syndrome generally do suffer from sometimes severe joint pain, which unfortunately AJ does. This means sometimes even basic tasks, like drawing, can become too much. Her flexibility is high, with clicking in her wrists which can be an indication that dislocation will happen in the future.
The blood disorder Von Willebrand means AJ suffers from deep bruising and excessive bleeding from the slightest of knocks. Blood does not clot easily and wounds can often bleed for much longer than they would in normal people, sometimes requiring medical attention. AJ’s parents noticed that she bruised easily as a baby, sometimes just from tickling, and pushed to be referred by their GP. A blood specialist recognized that she had Von Willebrand, and also referred her to a dermatologist for her thin skin. This then led to a referral to the EDS Diagnostic Centre based in Sheffield.
The process of diagnosis was of course very difficult for AJ’s family. The bruising was a daily occurrence, which unfortunately meant people judged just by looking at her, which is a sad but realistic experience for parents with children suffering the same illnesses as AJ. The bruising can lead to social services intervening and children being removed for fear of possible abuse. Another strong reason that these conditions need more awareness, in both the medical world and among the general public.
The combination of these three conditions mean that AJ’s every move has to be watched extremely closely by her family, which is not easy for parents who want their five year old to lead a normal life.
AJ is looked after by a medic team at the Royal Manchester Children’s Hospital by three consultants; a haemotologist, dermatologist and paediatrician.
Her family work hard every day to look after their happy little daughter and sister and are currently working on registering Annabelle’s Challenge as a charity. They have a website with lots more in depth details on AJ’s health and support for other suffers.
There is a lot coming up on the calendar for AJ including Annabelle’s Challenge Crystal Ball, taking place at Village Resort Hotel in Bury. Tickets can be purchased on the AJ’s Challenge website.
AJ's family are also supporters of EDS UK, a UK based charity that supports sufferers of EDS. More information can be found on their website: http://ehlers-danlos.org/
You can follow AJ’s Challenge on Twitter- @AJsChallenge and they are also on Facebook https://www.facebook.com/AnnabellesChallenge-
Help Rare Disease Day to do its work and spread AJ's story.