My name is Emily I’m 24 years old I fundraise and raise awareness of a genetic condition myself mother and siblings have called Ehlers-danlos syndrome (EDS)

What is the condition?- Ehlers-danlos syndrome

Is a rare inherited condition that affects the connective tissue in the body. This results in the skin, tendons, ligaments, blood vessels, internal organs and joints being affected. In my case all of the above is affected. There’s 13 different types of EDS the different types of EDS are caused by faults in certain genes that make the collagen faulty and weaker. I have type classic EDS

How does EDS affect me?- Ehlers-danlos syndrome affects me in every aspect of my body from joint dislocations to life threatening complications. Every joint in my body dislocates. Which has meant over 20 surgeries to try and stop my joints from dislocating and to try and fix intestinal problems.

I’ve had major surgeries on my jaw which have involved cheekbones being broken to build the jaw up and screws put in to prevent it displacing unfortunately that surgery failed so they then took bone out of my hip and put it into the jaw to stop the dislocation’s this did work but unfortunately due too my connective tissue being faulty I didn’t heal properly after the surgery and the hip bone fused together to the jaw which meant I had to have it reversed in surgery. Hours after the reversal surgery I had to go back into theatre as an emergency as I had a bleed and large blood clots in my face this was due to the blood vessels being too weak and fragile. During this period of time which was from January 2013 onwards I spent a full year in Royal Manchester Childrens hospital. I had become very poorly with chest the doctors discovered I had been having repeated aspiration pneumonia which meant when I was swallowing fluids and foods they was going into my windpipe instead of down my oesophagus so I had fluid and infection on my lungs. This was caused by everything being too weak when swallowing. My stomach contents also come back up my oesophagus and into my lungs again due to everything being weak, stretchy and floppy. After many investigations they decided to do major surgery on my oesophagus with an incision from the top of my rib’s to my belly button. They went that far into my stomach that the surgeon could see my spine it was an eight hour procedure they also fitted a gastrostomy tube into my stomach to provide nutrition and medication without aspirating on it. I then had to recover in intensive care. I’ve also had my stomach surgically moved further up and stitched to the stomach walls as the tissue became too damaged with scar tissue. One night in the hospital in the early hours of the morning I became very poorly which resulted in a crash call. My throat went into spasms and I couldn’t breathe in or out and I also couldn’t talk I just remember banging my chest to tell them something wasn’t right. This because a crash call on the ward I had so many doctors around me intensive care team anaesthetist’s and the on call ENT consultant. My mum got took to the parents room whilst they treated me she was understandably distressed and asked if I was going to be ok and wasn’t going to die but the nurses couldn’t give her them kind of answers and told her to ring my dad and siblings to tell them to get to the hospital. The ENT consultant ended up scoping me putting a camera down my nose and throat. The doctor found that my vocal cords had shut off they wasn’t working right they wasn’t opening which is why I couldn’t breathe or talk. Whenever the episode’s of spasms would start all I can remember is my mum and dad shouting for me to breathe.

The crash trolly didn’t leave my bedside. After many talks with world renowned consultants due to me being the only case they’ve ever come across with this problem my ENT consultant MR Mike Rothera made the decision with advice from Boston America to do life changing life and life saving surgery to fit a tracheotomy in my windpipe this is a plastic tube that I now breath and talk through. Initially they didn’t know if it would be a life long thing but ten years on and I’m still relying on it due to no other treatment available. I went into hospital as a day case and spent a full year in hospital at just 14 years old and came out with trauma and a whole different life that I had no other choice but to adapt to. To say it was difficult would be an understatement. I’m now 24 and EDS is still having a massive impact on my life i still have severe dislocation’s and I still find myself in life threatening situations with the complications of Ehlers-danlos syndrome. The nerves in my stomach are damaged resulting in my digestive system slowly becoming paralysed. I find it incredibly difficult to be mobile as the pressure from all the scar tissue in my stomach is extremely painful. When I try and mobilise my stomach bleeds a lot.

Why are you doing the run?- I’m not the only one in my family with EDS despite being the youngest I was in-fact the first one to receive a diagnosis from genetics in Sheffield the diagnosis took so long because the medical professionals knew so little/nothing about Ehlers-danlos so it was extremely hard to detect. My mum also received the diagnosis of EDS on the same day despite having all of the symptoms for over 40 years. My heart breaks that she went that long without any answers to why her body was failing her. This also resulted in my three older siblings being diagnosed with it. My mum always said it was like the missing puzzle piece as soon as we got the diagnosis everything made sense to her. To go through life with EDS is difficult on it’s own but to watch my mum and siblings struggle and live with the condition can be emotionally challenging and that’s why I choose to kind of turn all the pain mentally and physically into fundraising and raising vital awareness. People think I’m crazy people also get concerned for me but my body is failing me regardless of if I do a run or not so I honestly see it as I’ve got nothing to lose.

My mum is my care giver with my medication tracheotomy care everything really obviously I have some independence but I’ll always need that support and in the last 18 months I’ve lost count of how many mini strokes she’s had due to the blood vessels in her brain being too fragile. One stroke was actually on Mother’s Day last year. Several time’s when she’s had the strokes she’s unfortunately fell this has left her with significant damage to her knees she’s torn her ligaments that now need repairing and is now waiting on surgery for ligament repair and knee and hip replacement at just 55 years old. My family are my whole entire world even though I’ve got such a severe case of EDS I will not be running/walking for myself I’ll be doing it for my heroes my mama my two older sister’s who aren’t just sisters but also my best friends I’ll be doing it for my dad and brother who although may not be severely affected by EDS it still has a impact on their life day in day out.

I’ll be running for those that have EDS and fight every single day

I’ll be running for the little ones that have only just begun their journey with Ehlers-danlos syndrome fighting for a brighter future for all the children

Lastly I’ll be remembering all those that are sadly no longer with us.. that put up a brave and beautiful fight but never got to truly live they will never be forgotten.

And I’ll be running with an incredible support network my beautiful extended family

My brother my brother in law

And my amazing cousins that have so kindly reached out to show their support on the run.

Training hasn’t been easy after so many set backs I didn’t think this year would go ahead but in February I decided to just go for it. Unfortunately in last month as I was on my way to training I was involved in a car accident resulting in my neck being injured and my shoulder dislocating. This has left me with extreme weakness in my arm and numbness

It put a big obstacle in my way when it’s come down to preparing for the run with weeks off training.. but I won’t let it stop me getting to that finishing line on the 21st of may.

All funding is going directly to Ehlers-danlos support uk.. which will provide support to families and help the charity raise vital awareness to schools hospitals and ensure that all those affected with this condition are provided with the right care and diagnosis before it’s too late