I am a haemophiliac – I spent years terrified of bleeding – Metro.co.uk

One thing you learn when doing research in the Amazon is that the jungle comes to life at night.

On a night trail my team and I came across a two-striped forest-pitviper.

In capturing this rare and venomous snake to take measurements, I never felt scared or in danger. I was just so thrilled to see such a cool animal and get the opportunity to take some amazing photos of it.

I studied biology at university, and the natural world has always been a fascination of mine, with missed school meaning I spent a huge amount of time at home watching nature documentaries.

I first visited the Amazonon a school trip to Ecuador at age 15, staying in an eco-tourist lodge, and havesince wanted to return for a longer and more immersive trip but the haemophilia Id been battling for most of my life didnt make it easy.

Haemophilia means the blood doesnt clot as it should because some blood-clotting proteins are missing: haemophiliacs can bleed for an extremely long time after even a small cut or injury.

The bleeding can happenspontaneouslyand for no obvious reason; andthe most dangerousbleeds are usually the internal ones.

While I didnt suffer any bleeds on that earlier trip, on some previous holidays with friends, I had, meaning Id have to stay in to rest for several days until I could bear weight on the injured area.

My diagnosis of haemophilia Bcame when I was one.My mum raised me as a single mother and did an amazing job at ensuring I understood my condition and how to communicate any pain from as early as possible.

I dont recall any of the early trauma, however I was hyper aware of my condition throughout school. On occasions I would be taken home early for treatment or rushed to hospital after a bleed.

Growing up with haemophilia stopped me from doing certain things. I wasnt allowed to take part in contact sports at school, which can be quite isolating when all your friends are playing for the rugby and football teams.

I experienced a fair amount of internal joint and muscle bleeds growing up. These are extremely painful and debilitating repeated, traumatic bleedinginto my left ankle has left me with irreversible damage to the joint, which still affects me today.

The most painful bleeds I have experienced are into the iliopsoas muscle, a large muscle inthe inner hip, which was excruciatingly painful and debilitating.

I didnt havea bad quality of life living with haemophilia, but there was no ignoring the fact it impacted my life in a fairly significant way.

Idhave bi-yearly check-ups with a doctor at my haemophilia centre.We would discuss my reported bleeds, look at how well my treatment wasworking and take blood tests. Id also have to inject myself with medication intravenously three times a week.

This was not a pleasant experience, firstly for my mum who treated me as a child. Then, around age seven,I started to learn to inject myself. Hitting a vein isnt easy when youreso young but it wasa necessary step towards becoming independent.

Growing up, Id hear repeatedly, over many years, thatgene therapy an area of medicine that corrects a medical issue stemming from genes, and which offer a cure for haemophiliacs through introducing consistent, steady clotting was always just fiveyears away.

So,I resigned myself to the fact thatI probably wouldnt see it realised until I was an old man.

Then, during a regular check-up, my doctor told me about a trial that was currently enrolling for gene therapy. Having followed treatment advances and scientific news in haemophilia for a few years, I couldnt wait to hear more about it.

I had plenty of questions for my doctor, but I also sought out answers from other professionals in the haemophilia community, like nurses and other doctors and leading patient advocates.

Ultimately, I gained enough confidence in the treatment for me to feel comfortable in progressing with the trial.

If nobody puts themselves forward for these trials, youd never knowthetrue potential of the treatment. So I decided to volunteer.

My reasoning was that as Idbeen fairly fortunate in my life with haemophilia I had access to safe, effective treatment I had a chance to give something back to the community.

In all kinds of fields, gene therapy has huge potential. But we need the data and I washappy to contribute to that.

AlthoughI often had to remind myself why I was doing it, I dont regret a thing and am so grateful for being able to take part in the trial

My gene therapy started inFebruary 2020 when I received the one-dose of gene therapy via intravenous infusion. As part of the trial protocol, I started on high dose immunosuppression at the beginning of March. Then Covid struck.

I had a weakened immune system and had to shield in temporary accommodation alone,close to my hospital for nearly sixmonths.

It was a really worrying and uncertain time for me especially because,despite having haemophilia, I would not have otherwisehad to shield during the pandemic. It was only due to being part of the trial and on immunosuppression that this was the case.

The only time I left the apartment was to attend the hospital multiple times a week for blood tests, to handin my biological samples and forgeneral observations. I didntsee anyone elseon the trial, only my doctor and nurse.

I wont sugarcoat how difficult the first year of the trial was for me. I experienced very strong side effects from the immunosuppression. It was the most unwell I have felt in my life.

Every bodily function felt out of kilter; weight gain, trouble sleeping, acne, nausea, migraines, erratic bowel movements, mood swings, tremors and on top of all of this, I had to deal with the mental health impact of isolating.

But althoughI often had to remind myself why I was doing it, I dont regret a thing and am so grateful for being able to take part in the trial.

After nine months I was allowed to leave the shielding accommodation and thankfully, around the year mark, things started to get easier. Hospital visits became less frequent andI stopped immunosuppression.

I couldalsostart experiencing the benefits that gene therapy offered.

Simply being able to go to the gym or go for a run without wondering if my clottingfactor levels were high enough to protect me from bleeding, felt liberating.

Before the therapy, I would require regular injections of clottingfactor to keep my clottinglevels high enough in order to prevent bleeding, but Icould still experience a breakthrough bleed.

Butsince thetherapy, my factor levels are in the mild haemophilia range, which is high enough to prevent most bleeding without the need for regular injections.

This year, I realised Ineeded a break after the intensity of trial and the past twoyears. I wanted to get out there and truly test the efficacy of thegene therapy.

Having saved some money during the pandemic thanks to shielding in accommodation provided by the clinical trial, I found anopportunity to go abroad; and I jumped at the chance.

I went away for around two months, spending seven weeks living at a research station in the Peruvian Amazon, as part of an internship with a conservation organisation, Fauna Forever followed by 10 days travelling in Southeast Peru and hiking the Inca trail.

Shortly after I attended the World Federation of Haemophilia 2022 Conference in Montreal, spending several weeks road-tripping across Canada and hiking around the national parks.

Due to thepractical limitations of storing and transporting enough medication, I would never usuallygo away for more than two weeks.

A huge amount of planning was required to ensure I always had access to medication and local haemophilia centres.

When I visited Peru and Canada, I took fouremergency doses of factor with me just in case.

I didnt use any. I didnt have a single bleed, which was a huge relief.

Taking a trip like this is something that would have been made so much more difficult if I was still reliant on regular clottingfactor replacement. Id have to have taken a lot of treatments with me, worried about keeping themcool enough, and injecting myself regularly.

Having experienced a life without severe haemophilia, it would be difficult to go back to the way things were.

I definitely hope to travel more, especially more spontaneously, as I can now enjoy day to day life without the burden of my condition. Post gene therapy I realise just how much of my time and energy managing my symptoms required.

Im just focusing on the here and now, and enjoying what I have.

Do you have a story youd like to share? Get in touch by emailing jess.austin@metro.co.uk.

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I am a haemophiliac - I spent years terrified of bleeding - Metro.co.uk