Story

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.  

 

For more information about Annabelle's condition & EDS, visit www.annabelleschallenge.co.uk & www.ehlers-danlos.org

 

You can also catch up on what AJ's been up to at www.facebook.com/AnnabellesChallenge & www.twitter.com/AJsChallenge

  

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.

 

Annabelle's Challenge

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.

 

Clinical Diagnosis

 

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

             Pneumothorax/pneumohemothorax

             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

Raising money for

Ehlers-Danlos Support UK

Ehlers-Danlos Support UK

Charity Registration No. 1014641

Ehlers-Danlos Support UK is a registered charity supporting people who suffer from Ehlers-Danlos Syndrome (EDS). EDS UK is here to support people who have EDS, educate those who need to learn more, and raise funds to enable further research and development.

Donations 49

For Julie Hart's Cakes

Donation by Lesley Davenport on 26/11/13

Donation by Anonymous on 27/10/13

£60.00

+ £15.00 Gift Aid

Keep up the good work!

Donation by Anonymous on 04/10/13

£10.00

+ £2.50 Gift Aid

Good luck with your challenge

Donation by Rebecca on 24/09/13

£20.00

+ £5.00 Gift Aid

Donation by Russ Jackson on 16/09/13

£10.00

present.png

Thank you to all at RRG Huddersfield for all your kind donations. :-) xxx

Donation by Vicky Kaur on 03/07/13

£93.00

+ £23.25 Gift Aid

Well done on completing the run - it's a great event isn't it.

Donation by The granbys on 12/06/13

£30.00

+ £7.50 Gift Aid

Trumpet.png

Donation by Anonymous on 02/06/13

£45.00

+ £11.25 Gift Aid

Donation by Margaret and Ian McVeagh on 29/05/13

£5.00

smileys.png

Steve & Nicola Barker, friends and family

Donation by Janice Barker on 29/05/13

£55.00

+ £13.75 Gift Aid

smileys.png

Hope all goes well on Saturday

Donation by julie martin on 29/05/13

£50.00

+ £12.50 Gift Aid

Jumping.png

From all my sponsors for the run

Donation by Lyndsey Greenhalgh on 28/05/13

£50.00

+ £12.50 Gift Aid

windmill2.png

Donation by Carol Shuttleworth on 27/05/13

£10.00

Superman.png

Donation by Hayley Barnett on 27/05/13

£5.00

Inmem.png

Donation by Carol Mallinson on 27/05/13

£10.00

Trumpet.png

Donation by Andrea & Nigel Barnett on 27/05/13

£20.00

Superman.png

Good luck Hayley Mike & Christine

Donation by Michael Barnett on 25/05/13

heart.png

Good luck to Hayley and all your colleagues xx

Donation by The Barnetts and the Wilsons on 25/05/13

£50.00

+ £12.50 Gift Aid

Jumping.png

Good luck Nicola and Steve x

Donation by Lorna & Andrew Winn on 25/05/13

Best of luck vicky hope ur little legs last all the way lol

Donation by v kaur on 24/05/13

£5.00

+ £1.25 Gift Aid

heart.png

Good luck to everyone running for RRG and Michelle Beardmore we will be cheering you on LOVE MUM :) XX

Donation by BARBARA BEARDMORE on 24/05/13

£10.00

+ £2.50 Gift Aid

ThumbsUp.png

Good luck from Helen, Steven and Charles x

Donation by Helen Goodwill on 24/05/13

£10.00

+ £2.50 Gift Aid

thumbsUp.png

Good luck Jared

Donation by from the KitKat house on 23/05/13

£25.00

Superman.png

Good luck Jared

Donation by Mike Hampson on 22/05/13

£100.00

+ £25.00 Gift Aid

Good luck guys!

Donation by B Tottie on 22/05/13

£20.00

+ £5.00 Gift Aid

Donation summary

  • * Online donations£1,061.30
  • Offline donations£2,011.00
  • Text donations£0.00
  • Total raised£3,072.30
  • Gift Aid£229.50

* Charities pay a small fee for our service. Find out how much it is and what we do for it.