Vascular Ehlers-Danlos Diagnosis
29th February 2012
The first signs of Spring could be felt, the rays of the sun a little higher and tangibly warmer, the ground was about to give birth to the first spring flowers in the garden and yet I was in a cold, empty, dark and fearful place and little did I know that this was only the mere beginning. I hated the wait, I didn't want to wait, I didn't want to know and yet a voice deep down had already spoken what I was soon to learn later that day. The postman had been, I breathed a little easier, the dreaded letter had not arrived “another day to hold on to hope”. Holding on to that moment, clenching my fist as if to say “come on we can do this”, I turned to picking up the lego my then 5 year old son, Henry had left on the arm chair that morning before the school run. I was swaying with exhaustion, up every hour in the night to change James’ position my then 2 year old son who whilst having life saving surgery when he was a baby had complications post surgery and was left with irreversible brain damage. Sleep deprivation had become the new norm, I was exhausted and I knew that if I just sat down for a minute no amount of strength would be possible to keep my eye lids from closing.
The phone rings, I answer it, fulling expecting it to be a health professional for James and my diary once filled with Days off work and social gatherings was now swamped with James' appointments.
I recognised the voice straight away, the genetic consultant. I inhaled as he prepared me to give me the results of my genetic test. It was positive - I was diagnosed with Vascular Ehlers-Danlos. I wasn’t expecting to hear the news this way. I wanted to scream but I couldn’t, I wanted to run away, I wanted all of it not to be true “WHY?” ‘WHY ME?” but I couldn’t. In-stead, I began to shake uncontrollably, my voice trembled and croaked as I thanked the geneticist for calling me and giving me the results over the phone. The last bit of hope I felt that morning - gone. The results had confirmed what my inner voice had feared for 6 weeks since I collapsed at home. I put the phone back on its base with a click, that sound made it so final. I stood for a while the shaking had turned to waves of convulsing silent crying. I felt sick, I felt despair, I felt guilt, I felt angry, I felt scared, I felt alone and the darkness set in.
Six weeks earlier, I had had a manic day having driven James to a conductive education session some 50 miles away, Henry his elder brother was just starting main stream school and I finally sat down for the first time that day for dinner. My husband and I had planned to watch a film and my body was already crying out for sleep.
Then without any warning, in excruciating pain I felt like a boar constrictor had taken hold of my lower ribs and was squeezing every bit of life out of me and the pressure in my head was blinding. I collapsed on the floor. My husband had called for an ambulance and I was taken to A&E. As it was classed as abdominal pain, I was low down on their triage list. Whilst waiting to be seen, I suddenly felt a sense of doom and that something was seriously not right with me. I tried to call out to some doctors who were at the computers but to no avail, just then a nurse had come by, she looked at me and the monitor and took a blood pressure and with that just wheeled me straight into the Resus room. I knew immediately she had picked up on something abnormal on the monitor behind me. Being a Paediatric Intensive care nurse, I knew it was serious.
Within seconds, I was surrounded by medics. I didn't know what was happening but whatever that pain was meant something had broken inside me. They rushed me to CT scan they were suspecting a possible heart attack. The scan revealed a horror scene. A consultant broke the news to me in the CT scan department that I had in actual fact sustained a dissection (tearing of the inner layers of a major artery) of my coeliac artery, which provides essential blood to my kidneys and pancreas. In short my artery was tearing itself apart all on its own with no trauma. The scan also revealed that I have multiple aneurysms in my major arteries and that my left kidney has infarcted (had a stroke). I was only 38, married with two young boys and working as a Paediatric Intensive Care Nurse in the same hospital as I was being treated in. I was supposed to be at work the next day and I asked if the staff could let my unit know - It was 1am. My friend and work colleague came down straight away to see me. She sat for a while holding my hand whilst my brain was trying to make sense of all that was happening. A message was sent to my sister who was living in London and within a few hours she too was there with my youngest sister. The flood gates opened. I was scared and alone and we needed to find out what was happening. My sisters were only allowed to stay for a while, I felt utterly exhausted and yet could not sleep. The bleeps of the machine were strangely a comfort to me as it meant that I was still alive. I wanted to tell everyone how much I love them but most of all I wanted to be back with my family.
The pain had subsided but I felt like I had been through the wringer. A medical professor from the hospital became my quiet Sherlock Holmes. He took on my case and set about to find answers He had put word out to the International Medical community and not long after that he had narrowed the explanation to a genetic condition although he was not sure whether it was Loeys-Dietz or Vascular Ehlers-Danlos syndrome. In any case a referral was made to the genetic team. I had never heard of either of these conditions despite my nursing background.
Laying in the hospital bed, I needed to understand what the two conditions were and I did what most people do - googled it. Vascular Ehlers-Danlos, is a connective tissue disorder. It means that we have a mutated gene called Col3A1. This gene is responsible in giving structure and rigidity to arteries, the skin and our hollow organs. This means that instead of our collagen being neatly packed together, our collagen is loosely packed and little of it making our vessels fragile and tortuous, our skin is thin and fragile. Our veins will pop leaving quite significant and alarming bruises.
As the machines bleeped behind me and the rhythmic whirr of the IV machine, came the sudden realisation that pieces of the puzzle of my whole life started to fall into place. My fragile yet stretchy smooth skin, my propensity to bruise incredibly easily, my bendy joints, how easily my veins would just pop at the slightest impact, the pain endured during PE lessons. The prominent veins on my chest. If this were a confirmed diagnosis I needed to know how serious it was. What (if any) treatments were there. What could I do to overcome it? Trawling through medical journals, I was desperate to find the answers to so many questions that were screaming in my head. In truth, I wasn’t ready to accept any part of this diagnosis. I have two young boys and not being a part of their lives was too unbearable for words. Like a news tabloid each search on the internet talked of: “There is no treatment”, “there is no cure” and “life expectancy is 47yrs and lower for men”.
My thoughts turned to my boys and the tears were relentless. In my deepest despair, I knew that both my boys had also inherited the same condition. The signs were there. I prayed that it was all a mistake. I didn't want to hear it. I wanted to get back to what I was doing before. This wasn't happening to me. I needed somebody to help me process all of this. I remember thinking that this was worse than receiving the news of cancer. With cancer there is treatment - hope. With cancer there are organisations that give you the emotional, psychological support to come to terms with your diagnosis. Withe VEDS there was nobody to talk to that knew the condition well and could explain what to expect and give practical advice. Not even the medical staff knew, let alone fully understand the condition itself. This was one the loneliest times I had ever felt.
With such a devastating diagnosis on the outset, I am often told, how well I look, which makes it even harder for them to grasp and understand just how fragile my body is, how each day, is a day conquered in my determination to stay alive. If only they could see inside me and realise how fragile and perilous our condition is. I remarked to the medical professor that he had in actual fact given me the news that I now have a ticking time bomb inside that can go off at a moments notice. I was even told not to cough too hard as that could be enough to rupture an artery.
After many appointments with a specialist professor in VEDS, I knew I needed to make significant changes to my lifestyle and in particular addressing the physical needs I would need to put in place to be able to carry on caring for my severely disabled son safely. As one clinician put it bluntly, if I didn't make these changes, I would not see the year out. My diagnosis took its toll on my family. I couldn't accept that the life expectancy for VEDS is 47yrs, I still don’t. Not much is known about this condition, there is very little funding and research in trying to find a cure or treatment or even to understand why the gene mutates in the first place.
When I had my second arterial dissection (in 2016) this time in my Abdominal Mesenteric Artery (one of the 3 arterial branches that supplies blood to the gut) my confidence was shattered. I was told by a gastro consultant in A&E that I was potentially facing total bowel removal and be on long term TPN - nutrition given intravenously. It was after this dissection, that I had to finally say goodbye to working for the NHS. It was an incredibly difficult decision after 20 years of service.
I don’t want VEDS to own me, instead I want to use it to give hope to others and to provide support and encouragement that even in the face of adversity there is always hope. We still have a choice.
I picked up my old paintbrush after 30 years and began painting again. At first it was through art therapy which then fortuitously lead me to tell my VEDS journey through art, it was also a way of keeping my sanity during lockdowns. My perspective on life has certainly changed after getting my diagnosis, living each day as if it were my last.
Each one of us has a story to tell, my hope is that as I share my story with you, that some-where along that journey you will read, see, feel something that will ring true with you and with that a feeling that you are not alone but are so loved.
My journey has been one of finding faith, trust and seeing the beauty of grace in our brokenness. It is in the ashes of our pain that we grow and learn the most. It is in the deepest of despair that I understood the wonder of pure joy. Just as the stars shine brightly in the darkest of nights, so there is light in the deepest of despair and pain and the darkness cannot overcome it. Some may call that hope, I call it faith. It is our stories of our deepest suffering that can be our greatest gift to the world.
