I have inherited Factor V Leidon from my paternal line; my father has Factor V Leidon and activated Protein C deficiency, which he inherited from his father, which he inherited from his mother. All of whom suffered DVT’s at one point in their lives.

As a teenager, when my father had a DVT, I went to my GP and asked to be screened. When the results came back, I wasn’t told I had a specific “condition”, I was only told that my blood was “a little stickier than normal” but that it was nothing to worry about.

A few years down the line, it turns out it was something to worry about. It was when I was pregnant with my first son at the age of 20 that the midwife told me that I had Factor V Leidon. I would need to be consultant lead and would need to inject daily with Enoxaparin. As I had found out about the pregnancy quite late anyway, I didn’t start injecting until I was around 17 weeks. At 22 weeks we found that the baby’s growth was restricted due to lack of blood flowing through the placenta. At 24 weeks I was diagnosed with severe preeclampsia and admitted to hospital, being told that I wouldn’t be leaving until the baby was born. At 24+1 weeks, I developed HELLP syndrome and my organs started to collapse. I was given magnesium transfusions to protect my brain from any eclamptic seizures, before being rushed to theatre to deliver the baby. My platelets were so low that I was close to haemorrhaging. Our son was born on Christmas Eve 2014, at 24+1 weeks, weighing 480g. Despite being so premature, he was still much smaller than he should have been, indicating that the blood flow had been restricted for some weeks before I was diagnosed with preeclampsia. My life was very much touch and go for a few days; I wasn’t allowed to move out of bed, I was on large amounts of morphine and magnesium, having my bloods taken every 45 minutes to check my platelets (which were continuing to drop) and my liver enzymes (which were continuing to climb). I was getting worse before I was getting better. We had a very traumatic month over Christmas and the New Year, being transferred from hospital to hospital and surgery, all whilst I was still incredibly unwell and recovering from organ failure. Ultimately, our son’s prematurity resulted in his passing at 33 days old, on the 25th January 2015. We had some very difficult conversations with various specialists and made the heartbreaking decision to stop his life saving care, as everything that was being tried, didn’t have a good prognosis and it wasn’t looking likely that anything would be able to help him.

There is nothing for certain to say that the Factor V Leidon had caused the preeclampsia, however, there is a link. There is also nothing to say that beginning the injections any earlier would have prevented the preeclampsia and improved blood flow, but there is a chance.

It was decided that after such a risky pregnancy and complicated birth, any future pregnancies would be consultant lead from the very beginning. This put me at ease, slightly. I was told that I had no control over whether or not I get preeclampsia again because of the Factor V Leidon being a risk factor. Also, once you’ve had preeclampsia once, you are more at risk of it developing again. I was told that I just needed to make sure my body was as healthy as possible before I considered another pregnancy.

I overhauled my lifestyle completely to have another baby. I was in the gym, I was eating sensibly, and in the space of a year I had lost 5 stone. 

It was now Spring 2016 and we decided we would try for another baby and I (very luckily) fell pregnant the same month. I was straight on the aspirin, folic acid, eating sensibly, still exercising lightly. I felt much better in this pregnancy and a lot more relaxed than I thought I would. My mother in law was a midwife, so I asked her to be my midwife, especially in those early stages. She referred me to a consultant straight away and a plan was put in place to begin Enoxaparin as soon as possible. We went away to visit family in Wales for the Augsut bank holiday, but the morning we got up to leave, I had stomach cramps and noticed a small amount of blood. I knew that spotting was common, especially in early pregnancy, so tried not to worry too much. The cramps didn’t ease off all day, despite painkillers. We weren’t planning on telling the family we were visiting; I wasn’t showing and was feeling good so knew that I could hide it for a few more weeks.

In the night, around 11pm when everyone was in bed, the cramps woke me up. I sent my husband to get me some painkillers and make me a hot water bottle. I was on my hands and knees in the bedroom, rocking with the pain. I’ve never felt anything like it. When my husband turned the light on, he says it was like a horror film. There was so much blood. I knew for sure that I was miscarrying. We snuck out the house around 2am, not wanting to explain anything to my family, and headed to A&E. Because it was the bank holiday, staff at the hospital were in short supply. I had wrapped a blanket round my bottom half, but the hospital was 40 minutes away, having to drive off Anglesey and to the mainland. By the time we got there, the blood had also soaked through the blanket. Triage could see what a state I was in so did get me seen pretty quickly. I was seen by a doctor, who didn’t need to explain much. They said I was likely miscarrying, but I would have to wait until the following Tuesday to be scanned at my local hospital. They told me to continue with the painkillers and to rest, and it would pass in a few days. By now, it was morning, and I had texts and missed calls from my family who had obviously woken and seen that our car was gone and wondered where we were. We got back around 10am and had to tell them what had happened. Not how we expected to reveal our pregnancy at all. But I was covered in blood, my clothes needed washing, I needed a shower, and I just needed to sleep and cry. 

Again, it isn’t guaranteed that the Factor V Leidon caused that miscarriage, but there is a strong link. I also had to be monitored by midwife (mother in law) to ensure that I didn’t clot over the next few days/weeks. When we got home the following week, we went to the Early Pregnancy Unit at our local hospital, who did an internal ultrasound and confirmed that there was no heartbeat. As I was around 12 weeks along in my pregnancy at the point of miscarrying, it took around 3-4 weeks for me to pass the foetus and eventually stop bleeding. 

We decided that I would give my body and mind a chance to rest and recover, so we put another pregnancy to the back of our minds. I started taking contraception again, for a few months. But then December that year, we felt the time was right. I fell pregnant again very quickly, but unfortunately, this time wasn’t meant to be either. Something just didn’t feel right. I had cramps again but knew that I was only very early, so they could have been implantation pains. But my pregnancy tests were getting weaker. I went to the Early Pregnancy Unit again, the day before my birthday. They did an internal ultrasound and confirmed that there was nothing there.

I was now 23, had one son who had died, and 2 subsequent miscarriages. I was told that they would only run further tests and investigations if I had a third miscarriage. The fact I had already lost a son preterm, didn’t matter. Again I was told that there is a link between Factor V Leidon and recurrent miscarriages and preeclampsia. 

Only a couple of weeks after that 2nd miscarriage, I fell pregnant again. On Christmas Eve, our first son’s birthday. Because of my miscarriages, I struggled to enjoy this pregnancy. I pretended I wasn’t pregnant. I didn’t want to become attached incase I miscarried again. I carried on running, going to the gym, weight lifting, eating and drinking what I wanted, squeezing myself into jeans that didn’t fit because of the bloat. I didn’t tell my mother in law this time, because I knew that she was finding it hard seeing her son and daughter in law going through this, and she was having to stay professional. I made contact with the community midwife and was referred to a consultant straight away. I turned down the offer of early scans, with a view that, if something is going to happen, it’s going to happen and I can’t change it. I began Enoxaparin injections quite soon. I was doing everything I should have been doing to look after this growing baby, despite not wanting to believe it was there. But week by week, I was still feeling good. I was nauseous and tired, but that was all. I took this as a good sign, that my body was doing what it should be doing to help grow this little baby. I had a dating scan at around 13 weeks and sobbed when I heard the heartbeat and that baby was growing fine. This was probably the moment I started to actually think about having a real baby. Then the anomaly scan at 20 weeks, which is the scan I was most worried about. This was the point that we found out with our first that his growth had been restricted. But everything was fine. And every appointment I had with the midwife, there were no signs of preeclampsia. 

We announced this pregnancy to most of our family at around 20 weeks, when I knew I was now at the halfway point and we had started to get excited ourselves. I was still very cautious of getting preeclampsia so was doing all that I could to avoid it; eating the right foods, exercising as I would normally, avoiding as many of life’s stresses as I could like not rushing around to get to places or worrying about things that didn’t matter.

This time, I got Symphysis Pubis Dysfunction at around 30 weeks, so was in a lot of pain. I stopped exercising and chose to swim instead. I was wearing a support belt and having physio. Eventually, at around 32 weeks, I had stop working as I was now just struggling to get out of bed. My blood pressure had started to creep up so was now being monitored daily, but there were no concerns about preeclampsia just yet. 

At 34 weeks, the Braxton Hicks I th0ught I was having, suddenly got worse in the night. I called my mother in law the next morning, who had a gut feeling as soon as she arrived that something was happening, and she told me to go straight to the hospital. I didn’t quite appreciate the urgency so took myself off for a shower, my husband started building the cot “just incase”, I took something out the freezer for tea so we could cook when we got home later, and we arrived at the hospital at 3pm. I had no protein in my urine and my blood pressure was only slightly elevated, so they still weren’t worried about preeclampsia. The baby’s heart rate was monitored for 22 minutes before a consultant came to me and said “I think we need to bail out now”. His words exactly. Because the C-section I had previously was so premature, I had already been told that I would never be allowed to give birth naturally. And because of all my risk factors now and it putting too much pressure on my organs after the HELLP syndrome, they didn’t want my early labour to develop any further into active labour, so I would need to go for an emergency C-section now. The baby had been growing fine until this point and there were no concerns about him now that I was 35 weeks, but I should be prepared that he might need a little help and he is likely to be on the small side. I was warned of the dangers due to my previous obstetric history and of the Factor V Leidon and I was whisked down to theatre. Our baby boy was born on 19th August, 5 weeks premature, just 2 hours after being admitted to hospital. We named him Ezra Jude, which is Hebrew for “helper” because we knew he would be the one to help heal our broken hearts, and Jude was our first son’s name. 

Whilst everything seemed to have gone well, we were monitored closely. I was put on antibiotics for sepsis as a precautionary measure and had regular bloods taken. Despite there being no concerns about preeclampsia and it looked like I had just gone into spontaneous early labour, the blood results showed that my liver enzymes were climbing and my platelets were dropping, which are 2 factors of HELLP syndrome. It is now thought that preeclampsia and HELLP syndrome was on it’s way again, but my body acted fast to get the baby out before it got too late again. 

Ezra had severe jaundice and his blood sugars were low, so we were told we had to stay in for a few days longer than normal, until both our blood results showed improvements. Ezra was taken to neonatal intensive care for phototherapy treatment for his jaundice. The PTSD I had developed after our first son’s birth and death was triggered at this point. I was in hospital on my own (my husband went to work in the day whilst we were still in hospital) and my baby had been taken to NICU. I found myself detaching myself from my baby. When it came to feeding him, I just wanted to feed him and hand him back, not wanting to bond with him “just incase”. 

Then I was told that he had an infection, but they didn’t know where it had come from. They were treating him with antibiotics and monitoring him, he needed a platelet transfusion and would need to stay in NICU. They asked to take blood from all of us and they were sending it off to specialists at Great Ormond Street Hospital for testing. 

The results never came back in time whilst we were in the hospital, but the platelet transfusion and the antibiotics seemed to have worked. I managed to get his blood sugars up with what seemed like constant feeding, so they were happy to discharge us at 10 days old. He’d dropped a little weight and was now only 4lb 2oz but was doing well, so we went home at 10 days old, on the August bank holiday of 2017. Exactly a year to the day that I had miscarried. 

Ezra had severe jaundice for a few months so we had several appointments with the hospital. He also had severe reflux which is common in preterm and small babies. At one of these appointments to discuss treatment for the reflux, the paediatrician told me that they had received the blood results back and they had detected that I had Anti HPA-5b antibodies, another blood condition. In short, my blood was not compatible with Ezra’s, so my body had begun to effectively fight off Ezra in the womb, which was why he was so poorly and showed signs of infection when he was born. My blood cells will attack these HPA antibodies if it comes into contact with them. 

So with this 4th (and final) pregnancy, I began my Enoxaparin injections much earlier which may have been why I managed a healthy and much longer (although still preterm) pregnancy. If there were any future pregnancies, I would now also need monitoring to ensure that the Anti HPA-5b was not going to harm another unborn baby, and so that measures can be put in place in those later stages of pregnancy to ensure that we both have the right transfusions at the time that we needed a C-section. 

Our little boy is now 5 and a half and is thriving. His prematurity and poor health in the beginning has had no effect on his development.

Myself on the other hand, am traumatised by not only the events of the last few years, but the treatment. I am constantly wondering if I had known about me having Factor V Leidon, would that first pregnancy have been any different? Instead of my GP telling me it was “nothing to worry about”. I know that Factor V Leidon isn’t anything to worry about on a daily basis, but it is something to worry about during pregnancy. 

Up until very recently, my Factor V Leidon wasn’t a problem. I had to inject with Enoxaparin or Clexane if I went on a long haul flight, and take aspirin if I was going short haul or on a long drive. I know the importance of keeping hydrated to keep my blood thin.

At some point since Ezra’s birth, I have developed Cushing’s disease. Something incredibly rare (0.002% of people are diagnosed). This could be “just one of those things” however, it is the over production of the stress hormone, cortisol, caused by a tumour. There are links between Cushing’s disease and PTSD and over exposure to stress. Cushing’s also causes high blood pressure, diabetes, weight gain and increased risk of blood clots. So I now have another risk factor, on top of the Factor V Leidon. 

Christmas 2022 I wasn’t well, overall for around 8 weeks, beginning in November. I thought I’d just picked up that nasty winter virus that seemed to be going round. Despite my PTSD and health anxiety always catastrophising any illness, for some reason, I tried to ignore whatever this was and just carry on as normal. Then in January 2023, one morning I just knew something wasn’t right and, although I still thought I was being dramatic, I rang 111. I had been having chest pain, I was coughing, but over the last few days, I was just really struggling to breathe. They made an emergency referral to A&E and told me to be there within the hour otherwise they would send an ambulance. 

My husband took me in, and within minutes of walking through the door, I was on oxygen, I had an ECG, I’d had a Covid test, I was on IV antibiotics for sepsis and IV fluids, and I was being prepared for blood gasses and a CT scan. 

Within just a few hours, I was diagnosed with “numerous severe and massive bilateral pulmonary embolism”. My lungs were apparently riddled with large blood clots. And a chest infection on top. 

Every doctor I spoke to asked the same questions; have you been on a flight or long car journey? Is there a family history of blood clots? I had to explain everything, and they would read my extensive medical notes, and it would all make sense.

I injected with Enoxaparin for the first 3 days of my hospital stay. Eventually I began to breathe normally and I was taken off oxygen, and they changed the blood thinners from injections to oral tablets. I was kept in for 5 days until they told me that I was well enough to go home. I was petrified to go home, I begged them to keep me in. I was terrified that something was going to happen to me at home again; a hospital stay had been the biggest trigger of my PTSD in a very long time, and I really didn’t know how I was going to drag myself out of this mental low that I had found myself in. They explained that the blood clots would take a few months to dissolve, I might still experience some chest pain and some coughing, but that I was on a high dose of blood thinners and it’s highly unlikely that I’m going to form another clot whilst I’m taking them. They had to remind me how I poorly I was when I first went in, and how much better I’d got in the 5 days. They sent me home and just told me to rest.

Now, 3 months later, I’m still on that high dose of blood thinners. I still get the occasional bit of chest pain and I have to remind myself that it’s normal, rather than convincing myself that it’s something sinister. I will have a scan on my lungs in May (4 months after the clots) to see if they’re still there. Depending on what that scan shows, they may be able to reduce my dose of blood thinners, but regardless, I will be on them for the rest of my life now. If the scan shows that the clots have gone, my treatment for Cushing’s disease can also resume and hopefully they will book a date for the surgery to remove the tumour (surgery was always the plan but having a PE put a stop to it!).

Whilst I always thought that having a clotting disorder wouldn’t be a problem day-to-day, it has proved over the years that it is going to be a problem. I will have to take blood thinners forever; I carry alert cards around with me, just incase something happens and people need to know how to treat me; I struggle to get life insurance and travel insurance.

All for something that I inherited, and is completely out of my control, no matter what kind of lifestyle I live.