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:
Vascular
Classical
Hypermobility
Kyphoscoliotic
Tenascin-X deficient
Arthrochalasia
Dermatosparaxis
Meet Annabelle:
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: http://www.annabelleschallenge.org/about-aj/
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-
