Well we did it folk's, a sensational day running the 10k in the hot sun and clear blue sky of Manchester, an amazind day for us all, Please donate now and help us achieve our fundraising target of £3,000 for AJ and EDS UK.
This year's RRG Great Manchester Runners will be donning their trainers in aid of a cause very close to home, and we need you to dig deep and support this incredibly worthwhile cause.
Annabelle (AJ) Griffin is the daughter of Jared Griffin who is a General Manager at RRG Toyota Rochdale and in December 2012 at just 3 was diagnosed with Vascular Ehlers-Danlos Syndrome; a life threatening and incurable condition.
May is EDS awareness month so it seemed only fitting that the RRG Group Team chose EDS UK as their charity for the Manchester 10k and all donations will be gratefully received and hugely appreciated. So please dig deep and donate now and help make the invisible, visible.
Your donation will directly help Annabelle’s charity Ehlers-Danlos Support UK for further research and development; they also support people who have EDS and are an amazing charity.
From an early age she started to bruise very easily and we knew there was something not right, this is her journey so far.....
We noticed our little princess bruised from the slightest knock, something most unusual as this was happening almost every day, accidental cuts would look more traumatic than that of any other children, just to complicate things a little further she is being treated for Von Willebrand disease and also has joint hypermobility EDS.
Annabelle is bright, beautiful and great fun to be with and loves winding her two brothers up and constantly running around just like any other 4 year old.
We have been fortunate enough to have access to a fantastic NHS here in the North of England and thanks to the initial and ongoing continued support from our doctors, specialist consultants and GP we have pushed forward with every possible tests and treatments to finally receiving a diagnosis by the EDS unit at Sheffield Childrens Hospital.
Sadly this was the news we most feared but at least we now know – we can prepare, we can adapt, we can focus on the positive things she can do.
What is Vascular Ehlers-Danlos?
The Vascular Type of EDS is characterised by possible arterial or organ rupture as a result of spontaneous rupture of vessels or organs due to the result of even minor trauma. The Vascular Type of EDS is the most serious form of Ehlers-Danlos Syndrome.
People with the disorder have thin, fragile skin that bruises easily. Veins are visible beneath the skin, particularly on the chest and abdomen, and hands and feet may have an aged appearance. Unlike people with other forms of Ehlers-Danlos Syndrome, people with the Vascular Type have skin that is soft but not overly stretchy. Facial features are often distinctive, including protruding eyes, a thin nose and lips, sunken cheeks, and a small chin.
Other signs of the disorder include an unusually large range of movement (hypermobility) of hand and foot joints, tearing of tendons and muscles, painfully swollen veins in the legs, lung collapse, and slow wound healing following injury or surgery. Infants with the condition may be born with hip dislocations and a foot disorder called clubfoot, which causes the foot to turn inward and downward.
Unpredictable ruptures of arteries and organs are the most serious complications of the Vascular Type of Ehlers-Danlos Syndrome. A torn artery can cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Rupture of the intestine is seen in 25 to 30 percent of affected individuals and tearing of the uterus (womb) during pregnancy affects 2 to 3 percent of women. Although serious problems are rare in childhood, more than 80 percent of patients experience severe complications by the age of 40.
The vascular type is a rare form of Ehlers-Danlos Syndrome. Mutations in the COL3A1 gene cause the Vascular Type of Ehlers-Danlos Syndrome. The protein made by the COL3A1 gene is used to assemble larger molecules called type III collagens. Collagens provide structure and strength to connective tissue throughout the body. Type III collagen is mostly found in skin, blood vessels, and internal organs. If the structure or production of type III collagen is altered by a mutation in the COL3A1 gene, collagen fibrils cannot be assembled properly in these tissues, and the signs and symptoms of the Vascular Type of Ehlers-Danlos Syndrome result.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. About half of all cases are inherited from a parent who has the condition. The other half of cases occur in people whose families have no history of the disorder; these sporadic cases are caused by new mutations in one copy of the COL3A1 gene.
Diagnostic criteria and standardized nomenclature for the Ehlers-Danlos Syndromes were suggested by a medical advisory group in a conference sponsored by the Ehlers-Danlos Foundation (USA) and the Ehlers-Danlos Support Group (UK) at Villefranche in 1997 [Beighton et al 1998]. Criteria are modified here to reflect the authors' experience.
The combination of any two of the major diagnostic criteria should have a high specificity for the Vascular Type of EDS. Biochemical testing is strongly recommended to confirm the diagnosis.
The presence of one or more minor criteria supports the diagnosis of the vascular type of EDS but is not sufficient to establish the diagnosis.
Major Diagnostic Criteria for the Vascular Type of EDS
• Arterial rupture
• Intestinal rupture
• Uterine rupture during pregnancy
• Family history of the vascular type of EDS
Minor Diagnostic Criteria for the Vascular Type of EDS
• Thin, translucent skin (especially noticeable on the chest/abdomen)
• Easy bruising (spontaneous or with minimal trauma)
• Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes)
• Acrogeria (an aged appearance to the extremities, particularly the hands)
• Hypermobility of small joints
• Tendon/muscle rupture
• Early-onset varicose veins
• Arteriovenous carotid-cavernous sinus fistula
• Chronic joint subluxations/dislocations
• Congenital dislocation of the hips
• Talipes equinovarus (clubfoot)
• Gingival recession
For more information on EDS please visit www.ehlers-danlos.org