Steve shares his experience having gene therapy for severe haemophilia A – and how it has changed his life.
As of March 2026, gene therapy for haemophilia is currently only available in Australia through clinical trials. Gene therapy for haemophilia B is in the process of being evaluated by the Australian Government for funding to become available for Australians and we look forward to the outcome.
Video transcript:
Pauline:
Hi, I’m Pauline with Haemophilia Foundation Australia, and today I’m speaking with Steve about his journey with gene therapy and haemophilia. Hey Steve, can you tell me a bit about your bleeding disorder?
Steve:
My bleeding disorder is severe haemophilia A, I was diagnosed just before my first birthday in 1970, with a large bruise on my shoulder. They had no family history, so, my parents didn’t know what was happening.
Pauline:
Wow, so it just came out of nowhere.
Steve:
Came out of nowhere, Yes.
Pauline:
And your parents, I imagine they were pretty scared and didn’t really know what to do.
Steve:
Very scared. Big long word: haemophilia. Never heard of it before. So, pretty overwhelming, I believe, from what they have told me. They did contact people, at the time in the Haemophilia Society, and they learned more about that they can manage this over time.
Pauline:
We’re chatting to you today about gene therapy. You have undergone gene therapy. But first, can you tell me about your life growing up with the bleeding disorder?
Steve:
I was hospitalised a lot as a kid. My mum learnt home treatment, so I avoided missing so much school. And then I was still on a reactive treatment basis back in those days, which meant 2 to 3 times a week up to the hospital.
Pauline:
So not prophylactic.
Steve:
Not back in those days. No. This is 1970’s.
Pauline:
Roughly how old were you when all that was happening?
Steve:
That was well, mum learnt home treatment from when I was about seven, and then I was on a reactive treatment cycle until I started doing treatments myself, which was quite liberating in terms of finding a new independence for myself and being able to travel a bit more.
Once I had prophylactic treatment come along and I was doing self treatment that gave me even more sort of liberty around better education, got through university, started a professional career, started traveling interstate and overseas. So that was quite good.
In my early 30s I guess I settled down, met a partner and we had a beautiful daughter, and then my ankles and my knees started playing up pretty bad with arthritic pain and bleeds, Even though I was on prophylactic treatment, I would still have breakthrough bleeds. Yeah, both knees needed replacing and both ankles needed fusing.
Pauline:
Oh, wow. So we’re not looking at your real knees and real ankles.
Steve:
No no no. No no no no. Bionic man. Sort of, it’s lots of steel. Lots of fun walking through airports.
Pauline:
I was just about to ask how do you go getting through the airport security.
Steve:
Yeah. No, it’s all good.
Pauline:
That’s quite young to have those replacements though isn’t it?
Steve:
Yeah. Yeah, definitely. But it did improve my pain and frequency of bleeds. I don’t get bleeds there now which is great.
Pauline:
So what was the turning point that got you interested in gene therapy?
Steve:
So in my late 40s I was having trouble getting an IV, I became pretty distressed about getting a line in basically to treat on a prophylactic regime.
Pauline:
And you need your treatment right?
Steve:
I need my treatment. So I had a PICC line here, and that one lasted about a year, and then another PICC line here another year. And then I went to a port-a-cath on my right shoulder. And that was challenging to do self-treatment with a port-a-cath. So, in front of a mirror. Sometimes missing, sometimes getting upset and distressed. Same as you would get upset when you miss an IV. Yeah. It was not a great time and I was wondering about what does my future hold.
Pauline:
Imagine that was really stressful,
Steve:
Yeah.
Pauline:
all builds up to the anxiety. So at what point did you become aware that the gene therapy clinical trials were happening?
Steve:
About 2019, I got a call out of the blue, almost to say, was I interested to go on a gene therapy trial for factor eight, which was encouraging. But I also knew it was a trial at the end of the day. So no guarantees, no certainties, there’s risk, there’s benefits weighing up all the pros and cons around what was involved.
So I did a lot of talking with my haematologist. I also did a lot of my own research to try and make an informed choice about going on the trial, and I decided on balance, yes, I knew it would be a long term commitment of five years. I knew the first year was going to be very heavy in terms of blood tests monitoring, regular visits to the hospital. But again, there was always that potential of the benefits outweighing all those other public obligations I guess around being on a trial.
Pauline:
Did you chat to your family as well or your support network before going on gene therapy before starting?
Steve:
I did chat to my family. It was good to confer with them, but you know, ultimately it was my call like I was going to go through this so or not. But I was also very reluctant to tell anyone else basically, I was quite tight around who knew.
Pauline:
Do you think that was about just kind of keeping it to yourself because you weren’t sure about the outcome?
Steve:
Not sure about the outcome, not sure about all my history as well, I guess. And if I was telling friends, like, would they be checking in with me every couple weeks? Hey, how going mate? What’s happening? And I didn’t want that.
Pauline:
How was it when you got your gene therapy? What actually happened? What was the process?
Steve:
So I was hospitalised for a couple of days. It was a pretty dull procedure, really. It was just sitting in a chair watching this sort of goo going through an old, almost like a cryoprecipitate bag going through as an IV sitting there for a couple of hours.
Pauline:
What happened after that?
Steve:
I was tracking ok for the first few weeks, and then, through the blood test results, my liver function tests started to elevate and we had to go on a steroid to try and reduce the inflammation in my liver. I didn’t go too well on prednisone. My mood was altered, my sleep was altered, and I put on weight because I was eating a lot more.
Checked that with the haematologist. We then swapped over to another immunosuppressive drug called tacrolimus. Unfortunately, my liver function test still became, still came back elevated, so I had to go back on prednisone as a treatment to reduce my liver inflammation. That was a bit challenging in the sense of trying to accept I know I don’t go well on this drug, but I’m back on this drug. But if I get through this again, there’s a big potential reward at the back end of it. So, hung in. There was a light at the end of the tunnel.
Pauline:
Yes, yes. And was it clear that the prednisone, that you wouldn’t need to be on it long term?
Steve:
Not long term, but we didn’t know how long exactly. So I think I settled down, I guess with being in that space around accepting it and that I would be sort of challenged mentally for some time, but again, just trying to manage my mental state as best I could at the time.
Pauline:
And how was your support network through that time?
Steve:
Yeah it was great. So my family were fantastic, really supportive. Haemophilia Treatment Centre staff. Fabulous as always. If I was having issues, they were only ever a phone call away, so that was good to know. Reassuring actually so unfortunately, what happened during this time though this was early 2020s.
Pauline:
Yeah, you did give me a bit of a spoiler there saying it started just before 2019. So Covid, I imagine, threw a bit of a spanner in the works.
Steve:
Absolutely didn’t know what Covid was. We knew it was pretty fatal and it spread very quickly so being on an immunosuppressive drug that really threw me in terms of I’m more vulnerable than my family were so.
Pauline:
Yes, did you have to isolate?
Steve:
Absolutely. Isolated for weeks. My family also isolated and took all necessary precautions
Pauline:
Aww, amazing.
Steve:
Yeah, the support was wonderful. Incredibly challenging times.
Pauline:
Did you get sick of your house?
Steve:
Absolutely. I’m a little bit of an extrovert and I like to go to the shops and do things on my free time and get out. So again, it’s a bigger potential benefit at the end of it. So just thinking, hang in get through it, see what happens.
Pauline:
Yeah. So obviously your liver didn’t quite play along. But how were your factor levels throughout all of this?
Steve:
Yeah, so my factor levels. Well fluctuated enormously actually. So one of the things I did know was initially they are high and they tail off over time. How much we don’t know. And I didn’t know either. But there was encouraging results early so that those positive results for my factor levels were beneficial for my mental sort of well-being, saying, this is working, this is good.
Pauline:
So can you tell me about your haemophilia and your treatment and, your factor levels prior to being on gene therapy?
Steve:
Yeah, being severe haemophilia A I had less than 1% clotting factor all my life. Really. And then with prophylactic treatment, obviously the idea is to keep, your factor levels higher than, less than 1%. And that had been happening for some time. I don’t know the exact level. I mean, peaks and troughs, I guess with prophylaxis because of the life period of the product.
Pauline:
And then once you’re on your gene therapy, how did your factor levels change then?
Steve:
Yeah, they went really high. Yeah, 100 plus, which I didn’t think was possible.
Pauline:
Oh, yeah. That does seem a bit impossible!
Steve:
There we go. But yeah, you learn something every day! But then they started to diminish, you know, the more the trial went on and then I fully expected that.
Pauline:
So whereabouts have they sort of settled or plateaued.
Steve:
So in the last 12 months or so it’s around the 10% mark. So I’ve gone from being in severe haemophilia A to mild.
Pauline:
Oh fantastic! So in terms of your life, your bleeds, your pain, that sort of experience, how has that changed since having gene therapy?
Steve:
Enormously, I guess. I have much less pain now. I still get some residual arthritic pain, particularly in my elbows, but I’m not getting breakthrough bleeds I’m more mobile than ever. I’m a bit more free of mind as well around thinking what do I need to do? When’s my next dose due?
Pauline:
Are you still needing regular treatment now, or is it purely for if you were to go into surgery or something?
Steve:
Yeah, I’ve had no breakthrough bleeds. And, I’ve only had treatments on three occasions for falls, but they were bruising falls, so it was more precautionary to avoid a muscle bleed, I guess, from the bruising. But, and also a precautionary treatment for scheduled procedures like the dentist.
Pauline:
That’s so much easier.
Steve:
Life is good.
Pauline:
How have things changed for yourself, like are you more active now or anything like that that might have changed since, having gene therapy.
Steve:
Absolutely, so I’m able to do a lot more things, not, waking up the next morning sore and with pain. Just enjoying life a lot more generally.
Pauline:
What is treatment success to you?
Steve:
Treatment success is a sustained response in the years ahead. I’m very aware that I’m in a good place right now, but being on a trial that could change 12 months, two years, five years, I don’t know. So I’ve agreed to go on a longitudinal study to monitor my factor eight levels over time, which I think is important from a scientific research point of view. But also I’m just a bit curious around what my levels are as well in the future, and if the medical complications, were alleviated in that particular the first 12 months, I think, where people might have adverse reaction around liver inflammation.
Pauline:
How does it feel for you having gone through gene therapy, knowing that it may not be successful for others?
Steve:
For me, there’s two parts to that, there’s the individual choice I think people need to make and be informed and talk to their haematologist and whoever else they would like to talk to or confer with their families. And what are the potential cost and benefits and the risk involved? I think we all need to make individual choices around that.
For me, I’m in a space of feeling very grateful, very privileged because of my successful outcome. I’m very cognisant of where the haemophilia community’s come from, from the days of no treatment, some treatment into the current space of a range of treatments. And I’m also feeling very privileged being in Australia, having received gene therapy, I’m aware of how hard it is for people in developing countries who have very little or no access to treatment at all, so I feel privileged.
Pauline:
Thank you so much for your time today, Steve. I really appreciate you having a chat with me about all of your experience with gene therapy.
Steve:
Thank you. I’m happy to spread the word.
