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Rare Disease Day 2021

It’s #RareDiseaseDay2021 and we need your help to raise awareness of the painful genetic skin condition, Epidermolysis Bullosa (EB), because everyone matters.

Read the rare disease report from Amryt Pharma

 

What is a rare disease?

A condition is classed as rare if it affects less than 1 in 2,000 people in the UK, however, there are around 7,000 ‘rare’ diseases which together affect 3 million people in the UK. Some conditions that you may have heard of include Cerebral Palsy, Cystic Fibrosis and Multiple Sclerosis. EB is also one of them. It is currently estimated that there are around 5,000 people in the UK living with EB, but it affects many more as often family members become carers and the daily challenges that come with EB mean that life can be very difficult for all the family.

Rare disease charities can find it more difficult to raise funds due to reduced awareness compared to causes like cancer, which everyone is aware of and many are affected by. EB is an incredibly cruel and difficult condition. It is caused by a faulty gene which means the skin cannot bind together due to faulty or missing protein, this causes the skin to tear and blister at the slightest touch.

Anyone can carry the faulty gene – sometimes a parent is affected by the condition themselves (dominant EB), but in recessive EB, a copy of the same faulty gene is inherited from each parent, and a baby born with recessive EB is often a complete shock as the parents are not affected.

"Our son Dylan was born in June 2017 and was immediately rushed off to the Special Care Baby Unit. We were told he had Epidermolysis Bullosa (EB) and that we couldn’t hold him in case we caused his skin to blister. Our entire world then fell apart. They explained the body needs a certain amount of protein to heal - Dylan had none. His blisters were both external, on the skin, and internal.” - Karen and Simon Talbot, parents to Dylan who passed away with Junctional EB aged 3 months.

There are many different types of EB, ranging from the mildest, in which only the big toes are affected, to the most severe, which can have a devastating effect on any part of the body, causing lifelong disability and pain, and in some cases can sadly be fatal.

You can read more #EBtome stories here.

 

Impact so far

DEBRA UK are working hard to find treatments and ultimately a cure and can only do this through generous donations and fundraising efforts. Two of the symptoms that significantly affect the quality of life for people with EB are pain and itch. Imagine being in constant pain, which even strong painkillers like morphine can struggle to reach; or feeling like you have ants crawling all over you due to the skin trying to heal once blisters have formed. These symptoms are very difficult to manage and DEBRA UK, along with the expertise of researchers across the UK, have made great advances in medical treatments over the years - but we need to do more.

The first EB genes were identified in 1992 and now more than 20 different genes have been identified. Much of this We currently have 19 ongoing research projects. One of the latest breakthrough treatments from a DEBRA funded project is a new mouth spray being developed by researchers at the University of Birmingham designed to alleviate the pain caused by blisters inside the mouth, which make eating, swallowing and brushing teeth extremely difficult.

 

We need your help

These research projects, funded through donations have undoubtedly made a huge difference to people living with EB. You can find out what the current projects aim to achieve here.

Please help us continue our vital work which will dramatically improve the quality of life for people living with EB. Your donations will support research and current healthcare support. For example, just £15.00 could buy a special needs feeder system for babies who have blistered mouths and are unable to feed using a regular teat.

You can give a one-off donation, a regular donation, leave a gift in your Will or get involved in DEBRA’s virtual fundraising activity.

“I grew up at a time when DEBRA did not exist and it was a very dark place. I had no one to turn to. Now I know help is just a phone call away, I have benefited financially, emotionally and physically from help with my EB from DEBRA. I cannot now imagine a life without DEBRA and I know my legacy will be used to fund research into a cure and help people living with EB. There needs to be a day when no one knows what EB is, not because it is rare but because it no longer exists.” - Wendy Hilling, DEBRA member who has Recessive Dystrophic EB.

 

Rare disease report

For Rare Disease Day, Amryt Pharma, who have supported EB research through trials of a topical therapeutic gel treatment to increase the speed of wound healing, have published a 'Rare and Ultra Rare Diseases' report. Read the full report here

 

Please share this page and follow and share our social media posts to help us raise awareness of this debilitating condition:
Facebook: https://www.facebook.com/DEBRACharity 
Instagram: https://www.instagram.com/charitydebra/ 
Twitter: https://twitter.com/charitydebra 
LinkedIn: https://www.linkedin.com/company/debra-uk 

Make a difference

Make a difference

Please help us fund vital healthcare such as specialist EB nurses as well as research, care and life-changing support. 

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