Vascular EDS your story

Vascular EDS is such a rare condition that coming across real life stories shared by patients and families can be extremely hard to come by. 

 

'Your Story' provides a rare insight into how life changing Vascular EDS can be and in certain cases has proven to be fatal.

 

We hope you will have a better understanding how devastating Vascular EDS can be and at the same time powerfully positive for those like our Annabelle who have to cope day to day living with this life changing condition which sadly for some has led to the loss of a loved one.

 

If you would like your Vascular EDS story adding please contact us.

My Sister has VEDS - Ryan's Story

Well ermm where do I begin? Do I start on how I felt when I found out the news that my four year old sister has a very rare condition called Vascular Ehlers Danlos, or how life is at the moment? I think starting how I felt when the devastating news came will be a good start.So yeah, how did I feel on 19th December? I remember waking up at my normal time at six in the morning getting myself for school and I knew something was up, when both of my parents were also getting up. They normally stay in bed till half seven but that day was different.

 

I asked my mother why she was up so early and her response was that they had the important meeting about Annabelle on where I didn’t need to worry. Time came for me to leave for school, on which I did as it was Examination Mock week.I remember getting a text message from my mother on the way to school saying, ‘Good luck on today’s mock exam, don’t worry about bella, everything will be fine.’ But we all get that feeling that it won’t fine even if it was and I got that feeling.

 

Luckily I was able to move Annabelle’s important news to the side and I was able to complete the exam with no worries, but after that I wasn’t my normal self and my teachers/friends could see that. After I finished school, I texted my mum to try and get more information but she didn’t text back. So I got home and like every school student, I threw my uniform in the wash and got changed, and got myself a packet of crisps and sat down to watch TV.

 

Time went by and I got hungry and got to the point to text the parents asking them to pick a pizza up but once again no reply and that was strange to say it was about 5:45 in the afternoon. It got about 6:15 and the door alarm went and Annabelle came running in with the quietest parents ever. My dad turned the TV off and gave both me and my brother information sheets about Vascular Ehlers Danlos, he then told us the news on which during that time I looked at my mum and she started to cry. She cries at the littlest things on TV too seeing me in my high school uniform in year seven but seeing her cry at that time, I knew something was up and I felt like I lost everything. I was heartbroken, annoyed, and angry and many other things, I personally thought God was punishing me for something. I mean I hardly cried that year but just under the first twenty minutes of getting the news I was swimming in my own tears I was that upset.

 

It took a while to sync in but we finally got around knowing that we cannot do half the things we would like due to Annabelle’s condition. It’s an awful feeling knowing that she can pass away any second as something in her body could rupture and that we can’t do things like go on an airplane due to her blood pressure or going on rollercoaster and many other things. To be honest we could sense there was something wrong as she got little bruises from the slightest of things but none of us thought it was going to be as bad. My father changed and become more protective over her and so did my mother, but it affected my mother more as she had to stop working, as she needed to be on standby 24/7. Mine and my brother’s life changed, on where we can’t play football with her or go to the park on our own as well as not being able to go on a trampoline with her.

When you see my little sister, Annabelle you would think hang on a minute there is nothing wrong with her, she is normal, but once you see the bruises she gets and you actually look at her eyes, lips, ears and chin, you will find that she isn’t. People who have Vascular Ehlers Danlos have small ear lobes, prominent eyes, thin lips, small chin and even a narrow nose.

 

Annabelle is quite a character getting me and my brother told off as well, she winds us up. My father and her have their own saying, which always works unless she wants something from my father and that is, ‘What Bella wants, Bella gets’ She is such a lovely girl though and it’s really upsetting that she has been diagnosed with Vascular Ehlers Danlos. To be honest I think she is lucky on being diagnosed so early in her life, as it has let us start raising awareness and we hope that there will be treatment soon but it’s unlucky as she can’t do things like normal girls. She won’t be able to have her ears pierced, she can’t have tattoos, she won’t be able to have children, she can’t go abroad unless we drive down and she can’t be as active as other children, as she has to have a rest or her legs start to hurt. Overall, when the news hit that Annabelle has Ehlers Danlos, I was angry, upset, scared and shocked and I felt like I couldn’t do anything to help, but because of my family and friends, I have done what I can and will do more for Ehlers Danlos Support UK and Annabelle.

 

I personally didn’t think I would do the Manchester 10k Run or help around during our Charity Ball or even get through the raise awareness month in May but with the help of family and friends, I did and I want to say thank you for all your support and help you have done. You honestly don’t know how much it means to me as well as the Griffin household. Thank you.

Matt Smith

A very rare life-threatening disease that affects about one in every 250,000 people has struck three members of the same Skegness area family.

 

All three were diagnosed at the end of last summer with Ehlers Danlos Syndrome - and are now trying to raise awareness of the condition - described by one as a ‘death sentence’ with no hope of a cure.

 

Matt Smith, 33, his sister Carolyn, 26, and his dad John, 60, from Burgh le Marsh were all told in August that they have Vascular EDS which is the most serious type as it means organs and blood vessels can easily burst. Miraculously, Matt’s own 10-year-old son has been spared this traumatic illness of which there is no cure, no treatment, and little research done to understand it.

 

Matt, who has spoken out to raise awareness of his condition for Rare Disease Day on February 28, said: “I began to get visual migraine headaches a couple of years ago. I’d had them in my teens and then grew out of them but they came back with a vengeance once a month, then every week, and then one night I had a bit of a funny turn with dizziness. I went to the doctor, he sent me for scans, and I was told I was extremely lucky because an artery in my brain had burst. This is usually responsible for causing strokes.”

 

Medics were unsure of what has caused the problem but Matt looked up his symptoms and found he ticked every box for Vascular EDS, a little-known illness. It was at a specialist centre in Sheffield where he and his family were diagnosed.

 

“My sister bruises very easily and has stomach problems, like I do, but my dad has suffered for the last 30 years without knowing why. He has had all sorts of problems and was diagnosed with heart disease but the EDS specialists told him that this was all part of having this condition,” Matt said.

 

“However, he has reached the age of 60 and that gives us hope, although it hasn’t been an easy 60 years. He’s had a lot of problems. Vascular EDS is a death sentence. There is no cure and patients generally don’t live longer than the age of 48. We think both his mother and grandmother suffered with it. His mum died in her 40s of a aneurism and his grandmother died in her 30s.”

 

He added: “It’s very difficult living with the knowledge that I might not have much time left but to give my life meaning, I’ve dedicated the rest of my life to raising awareness of this rare disease and that there must be more funding made available for research.”

 

EDS is an inherited genetic condition that affects the collagen in the human body. Vascular is one of seven types of EDS.

 

This story featured in the Skegness Standard 

Ted Rizzo

After reading about EDS online everything started to fall into place. We got referred straight away to our local consultant. Despite being told he bruised like any other normal child we were eventually referred to see a Rheumatologist Doctor in Leeds. She referred us to the EDS clinic in Sheffield. Ted had a skin biopsy on the first appointment as it was clear the clinical signs pointed towards the Vascular form.

 

We waited 2 months to get the devastating news. Words cannot express our emotions that day but we knew this was the beginning of a new journey, a difficult and one that was going to have many ups and downs. Ted is still the same beautiful, amazing boy he always was but now with an invisible disease.

 

He is a very special little man and we will do whatever we can to help him have a happy and fulfilling life and together decided that we would help raise awareness of this condition to help make the invisible, visible!

 

Ted's VEDS is on Facebook

Jacqueline Mould

At birth my daughter, Jacqueline, had very visible veins on her head and body. She bruised badly when she fell. The doctors said it was nothing—just thin skin. Then, when she was 12 years old she developed an unusual localised rash on her knees. A dermatologist said she had perforating elastoma. She was an “interesting case,” but he did not know the cause. At age 23 Jacqueline developed pain in her legs. The doctor said it was just varicose veins—there was nothing to be done except to avoid standing and to wear support stockings.

 

The pain got worse and Jacqueline went for a hospital consultation. At the clinic blood was taken and she bled for 13 minutes. She was sent to a joint consultation with a haematologist and a dermatologist, who said she should see a specialist interested in the genetics of Ehlers-Danlos syndrome. Still we had no idea of what was going on.

 

We waited two years to see the geneticist. He commented on her facial features and tested her joints, which were not hypermobile. He told us that Jacqueline had the vascular type of the syndrome. No one in the family was like her—her condition was caused by a mutation. She was told that she should not have children, must not take part in contact sport, and must avoid physical stress. We were invited to ask questions, but it was all too much of a shock. We went home in silence.Jacqueline was particularly distressed about not being able to have children.

 

When I read the literature of the Ehlers-Danlos Syndrome Support Group I realised the full horror of probable sudden death. I felt numb. Jacqueline was a fit young woman in full time employment who was enjoying her life. I left the literature for her to read if she wished. She decided not to tell her friends about her illness. She had episodes of depression, but together we decided to carry on as normal.

 

Two years later, at work, Jacqueline's legs suddenly went numb. She was taken to the local hospital. The doctors didn't know about Ehlers-Danlos syndrome. They found nothing wrong and said she could go home. At this point Jacqueline collapsed. After resuscitation it was realised that she was bleeding internally. A renal artery had ruptured and despite surgery Jacqueline died on the operating table.

 

Today I work with the Ehlers-Danlos Syndrome Support Group to improve awareness of this rare condition and to help support those who have to face its problems.

 

Rae Mould (Jacqueline's mother). 

Doctor’s Perspective

 

Jacqueline died in her prime, an active young woman. Her story is a succession of missed opportunities to diagnose the vascular form of the disease. Originally classified “type IV,” it is a rare but lethal autosomal dominant form of the disease.

 

The correct diagnosis was made only in her mid-20s, yet the signs were present at birth. This form of the syndrome results from mutations in the gene for type III procollagen (COL3A1).

 

Affected patients are at risk for arterial, bowel, and uterine rupture, events that occur mostly between the ages 20 and 40. In one study median survival was 48 years. Most deaths result from arterial rupture.

 

The apparent lack of knowledge about the syndrome shown by most of the doctors this patient saw, the delay in seeing a suitably trained specialist, and the absence of laboratory corroboration of the diagnosis all led to the tragic outcome.

 

Genetic testing for Ehlers-Danlos syndrome has always been difficult to obtain in the United Kingdom, and in the past specimens have been sent abroad. However, gene sequencing for this form of the disease is now offered by the North Trent Molecular Genetics Service in Sheffield.

 

Source: BMJ Group

Ryan Eaton

When teenager Ryan Eaton went to have his eyebrow pierced, he joked: “I might bleed a bit more than usual, I’m on iron tablets”.

 

Those who didn’t know him would not have realised was that he lived with a rare life limiting medical condition which finally claimed his life at the age of 17 in October 2009.

 

Ryan had Ehlers Danlos Syndrome Type IV vascular, which resulted in his joints regularly becoming dislocated, his skin covered in bruises and spontaneous bleeding. His parents Debbie and Rob, paid tribute to their “heroic” son who bravely hid his condition from most people with only family members and close friends aware of it.

 

When Ryan was born doctors told the couple that there was a 50/50 chance he would have EDS as mum Debbie also has the rare condition. When test results came through Debbie says she “already knew” that Ryan had the condition because he bruised as she changed his nappy.

 

Growing up the brave youngster was unable to take part in contact sports such as rugby or football, but actively pursued other sports such as swimming and golf, winning a junior golf tournament aged just nine. Rob shows a picture of Ryan as a youngster in which his legs are a mass of bruises.

 

People who have the condition are not expected to live beyond their 30s and many end up using a wheelchair.

 

Rob, a former Marine, said: “Ryan lived as normal a life as possible. He was in such pain every day of his life but he didn’t show it. He still put other people before himself.

 

“We didn’t wrap Ryan in cotton wool. We informed him as he grew up in a way that wouldn’t terrify him. He protected us by being a normal young lad and protected other people by not giving too much information so he wouldn’t scare them.”

Even the slightest bump or knock would see Ryan ending up at hospital and he became a familiar face to staff at Poole A&E. Debbie recalled Ryan offering his seat to an elderly woman on the bus although “he was more disabled than her”. Ryan gained a new independence after he got a Motability vehicle aged 16.

 

EDS sufferers can look as if they have nothing the matter with them, leading many people to assume that Ryan exaggerated his illness, say the couple. Debbie said: “One of the biggest problems myself and Ryan had was going out to shops using the blue disabled badge and people assume you’re fine. There was a lot of support from his teachers.”

 

Although Ryan “knew the future was bleak” he never gave up, achieving a clutch of GCSEs and passing maths a year early. Ryan had a brush with death just over a year ago when he fell over at Poole bus station, rupturing his spleen, but had fought his way back to health.

 

“I think he survived that for a reason. It gave him time to finish his growing up,” said Rob. Ryan was at his girlfriend’s house when Rob and Debbie got a call to say that he had collapsed.

 

Ryan was rushed to hospital with internal bleeding and the couple were with him at his bedside as he passed away.

Debbie Eaton

Debbie Eaton describes her body as a “ticking timebomb” and has bravely spoken out about the devastating illness which has blighted her life and killed her teenage son.

 

Debbie hopes to raise awareness of the little-known Ehlers-Danlos Syndrome (EDS) by raising money for desperately-needed research and ensuring other sufferers are diagnosed as quickly as possible.

 

Now 46, Debbie had a life expectancy of just 32 and she and husband Rob lost their only son, Ryan, when he was just 17. Now she is resigned to the fact that the syndrome will claim her life too but she and Rob remain positive despite knowing it could strike at any time.

 

“It is one of those situations where you either laugh or you cry,” said Debbie. “We are laughing, but with wobbly knees. It’s not going to go away if we are miserable but I do feel I am on a fine line and I am not here for much longer – I dread going to sleep.

 

“I am 46, one of the very few and very lucky ones who have made it so far. More than 80 per cent develop life-threatening complications by the age of 40.”

 

There are six different kinds of EDS and Debbie suffers from the vascular type, which means unexpected and sudden internal bleeding is a constant risk. Symptoms include fragile blood vessels leading to spontaneous bleeds, thin skin and dislocation of joints.

 

Debbie was brought back from the brink of death in 2012 when an aneurysm on her splenic artery ruptured and other frightening episodes have left her weak and gradually more dependent on others. She now spends most of her time at their specially-adapted home while husband Rob runs Sign It! and Cam Auto Centre in Poole, UK, both of which employ disabled people.

 

The couple were advised against having children for the sake of Debbie’s health but when she fell pregnant she was determined to continue with the pregnancy. “She was booked in for a Caesarean at 36 weeks and I was warned ‘you might be about to see your wife die’ at the time,” said Rob.

 

Ryan had a 50-50 chance of having EDS and it soon became apparent that he had inherited it.“They did tests after he was born but I already knew because he bruised so easily,” said Debbie.“It was difficult when he was little but it never entered my head that he would die before me.”

Sadly Ryan died in October 2009 after suffering a Spontaneous Aortic Aneurysm Rupture.

 

Debbie is keen to ensure symptoms are recognised so that people can be diagnosed as early as possible and has set up a justgiving page in memory of Ryan to helpfulfill his dream that one day Ehlers-Danlos Syndrome would be consigned to the history books!

 

To make a donation in memory of Ryan which will go direct to EDS UK please visit Debbie's page: Donation Page 

Destiny Lomonte

My name is Destiny, and I'm not your typical teenage girl...I'm fighting an unseen battle. I suffer from a rare disease. Ehlers-Danlos type IV. It causes my body to produce faulty collagen, and makes it so my joints pop out with the slightest of movements...For example, I broke my wrist last summer because I lifted my computer up with one arm!

I have a variety of secondary conditions, some including epilepsy, kidney and liver problems, Chronic A-fib of the heart (irregular heart beat) and battling against progression of these conditions. Below is a little bit more about various secondary conditions.

My stomach is completely paralyzed from Gastroparesis causing me to be malnourished, constantly nauseous, and constantly puking any food I eat. I'm on a pure liquid diet, and rely on IV's for my nutrients. I've recently started TPN for the past several months, this is nutrition and feeding through a central line that connects into my heart.

 

Last year, I was also told I have a brain tumor that is causing major vision problems and changes along with a variety of other issues. My path is a difficult one, but I am choosing to fight it with encouragement and smiles, and the support of friends, and family from all over the world!

 

You can follow Destiny's Battle on FACEBOOK

Kelly Wehling Hardie

On January 5, 2013, we lost a beautiful young woman to Ehlers-Danlos Syndrome, Vascular EDS Type.

 

Kelly Wehling Hardie of Edwardsville, Illinois was only 29 years old when she passed away at Barnes-Jewish Hospital in St.Louis due to complications resulting from VEDS.

 

In Kelly’s memory, her husband, family and friends have put together a fundraiser to support EDS research. The Kelly Wehling Hardie Memorial fund will be an annual, competitive grant awarded to researchers investigating vascular issues facing those with EDS. 100% of all donations raised will go to research.

 

The group has already raised over $50,000 for the cause. 

Laura Elizabeth

I'm Laura Elizabeth. I'm 23 from Springfield, Illinois. Vascular Ehler's Danlos Syndrome.

 

I also have Dyautonomia/POTS, Total Digestive Tract Dysmotility, Endometriosis, Nephrogenic Diabetes Insipidus, Interstitial Cystitis, Anemia, Immune Deficiencies, Neurogenic Bladder, etc.

I rely on oxygen, TPN infusions, fluid infusions, and a power chair. I'm on palliative/hospice care. I spend a lot of time sleeping and I’m not doing so well and I don’t know how much time I have. But I always try to see the bright side of everything. I love to knit. I love to read. I love word find puzzles. I spend a lot of time watching Grey’s Anatomy.

 

Please visit my website:

Helena Brennan

My name is Helena Brennan and I am from Kilkenny, I have Ehlers Danlos Syndrome, Type 4. Commonly known as vascular type. I, along with my 2 younger brothers, was diagnosed as a child by Prof Andrew Greene in Crumlin Children’s Hospital, by way of a skin biopsy.

 

When I first met Prof Greene, he was able to tell by looking at me and by knowing my family history that I had EDS.

 

EDS had played a devastating role in my family and my life up to this point. My Mother (aged 29) passed away from an aortic aneurysm when I was 5. Years later, my aunt past away from an abdominal aneurysm.

 

At the time, there was no mention of EDS. Later, another family member was diagnosed with Vascular EDS, following many issues. This then lead to my diagnosis.

 

As a child, I was always full of unexplained bruises. I dislocated my knee following minor accidents. I was also diagnosed with Pulmonary Valve Stenosis at a young age. My brothers experienced Pneumothorax (collapsed lung), which was also linked to EDS. They too bruised very easily and experienced dislocations.

Sadly, I lost my two brothers in December 2007 and April 2008. Stephen, aged 20, passed away following a sudden aortic aneurysm. Adrian, aged 18, passed away following a minor surgery on his lung for a pneumothorax. Both died very suddenly and unexpectedly which left me and my family completely heart broken. EDS had risen its ugly head yet again in my family.

 

Following the loss of my brothers, I suffered a lot with anxiety; my world was turned upside down. I was helped through this with a lot of support from my family, friends and my GP. I would often get leg cramps, which leads to bleeds in my legs, swelling, bruised from knee to toe and left unable to walk until the bleeding and swelling stops. Recently, I have been diagnosed with Intermittent Claudication in the artery in my groin

 

This was so frightening when the symptoms first appeared. I could not walk even 10 steps without my leg feeling numb, heavy, weak and very painful. My GP was excellent and got in touch with Mr. Ciaran McDonnell, Vascular Surgeon, in the Mater Hospital. Mr. McDonnell seen me straight away and performed numerous scans, tests etc. He was very pleasant and surprisingly he knew quiet a bit about my condition. He informed me of my situation in a very informative way. However, he told me that he did not want to perform any surgery, as the risks with having EDS were too high.

 

We agreed on that! Surgery was out of the question unless my symptoms worsened and as a last resort he would do surgery. Worst-case scenario if that happened was I loose my leg.Thankfully, a year on, I’ve had no more problems with my leg, even though the problem remains.

 

I have regular check up with my cardiologist, vascular surgeon and my GP. Thankfully, I’ve been very well with no major problems thus far. I try to be very careful not to get a fall, bang, lift heavy items or put myself at risk of a bleed etc. Which, in itself, is quiet hard!

I try to remain positive and lead a normal life as best I can. Having EDS is a worry and the lack of knowledge within the Health Care System of the syndrome is also very concerning.

 

EDS has played havoc with my life, my mind, my family and my emotions but I continue to live life, celebrate everything, stay positive and fight on as best I can.

 

Alicia's Journey

It was on the 24th of August 2013 that VEDS finally became Alicia's reality. We had received the clinical diagnosis a few months earlier and then the devastating phone call to confirm the genetic results. It had been a very tough time for our whole family coming to terms with the news, but now it was time for Alicia to hear about it too. She had already shown her strength and resilience coping with me being in and out of hospital throughout her life, so we knew she would cope well with the news.

 

We wanted her to be told in the most gentle way possible and with what better way than with a teddy bear. It was an emotional family moment, Alicia's Daddy and I sat with her on her bed and explained that she and I were a little different from other people. Where other people had a 'special glue' inside holding them together, we didn't have quite enough and because of this we would have to be very grown up to take extra care with our bodies.

 

We told Alicia about what would have to change and that for everything she couldn't do we would make sure that we found something she could do. Alicia was amazing and very proud to be different although a little sad about not being able to ride rollercoasters!

 

Alicia's journey has begun but she will not be alone, we will fight this together one day at a time. Our next step will be to meet with her teachers at school, do you think they will need a teddy bear??

 

Joanne Teague

Joanne is author of the new book 'See you in September', a story about life with Vascular EDS.

 

When Joanne Teague learnt that she may only have a few months to live she decided to take her three children out of school and, with her husband, spend six months travelling around Europe.

 

See You in September is the hilarious and uplifting account of this family’s journey through Europe. From the interviews with the children’s eccentric head teacher, to the vagaries of negotiating the Paris Metro with a toddler, the joys of navigating through Italian cities and the challenge of purchasing food for a family on a remote Greek island using only sign language, the book deals with every family’s holiday dreams – and nightmares – with a wonderfully light touch.

  

To purchase a copy of ‘See you in September’ ORDER NOW

 

For further information on this fabulous story CLICK HERE

Comments

  • Debbie(Saturday, July 27 13 05:41 pm BST)

    Thank you so much for all the great work you are doing at raising awareness of vascular EDS whilst also raising funds too. You are doing an amazing job, keep it up X all our love Rob & Debbie Eaton

  • (Thursday, December 05 13 02:07 am GMT)

    There are six versions of EDS. All of them are under-diagnosed, and an estimated 60-70% of the deadly Vascular EDS are undiagnosed entirely.

    For Rose, he’s fortunate enough to not have the Vascular EDS conditions, but has not avoided the symptoms of this ailment. At the age of 12, both of Shannon’s arms became paralyzed and he lost the use of his voice for a year.

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