The story of Jared
At just 3 yrs old our daughter Annabelle Jane Griffin ‘AJ’ was diagnosed with a very rare medical condition Vascular Ehlers-Danlos Syndrome, it is life threatening and incurable.
Despite having no family history of the ge…netic illness, we received the devastating diagnosis that our daughter Annabelle, known as AJ, has vascular Ehlers-Danlos Syndrome just before Christmas on 19th December 2012, after months of in-depth testing.
Vascular Ehlers-Danlos Syndrome (VEDS) is the most serious variation of the condition, 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 VEDS sufferers experience severe complications by the age of 40.
In addition to VEDS, AJ suffers from Hypermobility which is already having an effect on her, AJ can only walk short distances before tiredness kicks in and she asks to be carried or placed into her buggy, AJ sometimes complains of pain and it is hard for our daughter to carry out even basic tasks like drawing a picture which again makes her tire easily and she has to take a break. AJ is also very flexible with some of her joints, her wrists are already ‘clicking’ and a sign they will probably start to dislocate in the near future.
AJ has also been diagnosed with the blood disorder Von Willebrand (VWD), with most children an accidental knock might only leave a slight mark but for AJ she comes off much worse with either excessive bleeding, deep bruising or even open wounds requiring medical attention.
Her blood does not clot very easily and when factoring in the vascular Ehlers-Danlos we have to watch her every move, not easy for us being parents of a 4 year old that just wants to lead a normal life like any other child of her age.
In January 2013 we set up Annabelle’s Challenge to help raise awareness www.annabelleschallenge.org
Meet others who understand on the international TMAU community on RareConnect.org:
https://www.rareconnect.org/en/community/ehlers-danlos-syndrome