Dom shares his experience of receiving gene therapy treatment for haemophilia A. He talks about his life with haemophilia, before and after gene therapy. For Dom, the gene therapy wasn’t a success, however he is still very positive about his experience.
As of June 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.
Dom is Australian and received gene therapy as part of a clinical trial.
Transcript:
Pauline:
Hello I’m Pauline from Haemophilia Foundation Australia, and today I’m speaking with Domenic about his journey with gene therapy and haemophilia.
Can you tell me a bit more about yourself and your life?
Domenic:
Yeah, so I am 29 years old. My parents and myself knew I had haemophilia when I was six months old. I’ve been on several treatment regimes throughout my life.
I’ve been married for three years to a lovely wife, and we have recently. I just had a five month old son and he is the greatest son in the world. But I’m biased so ….
Pauline:
Now Dom we’re chatting to you today about gene therapy.
Do you think you can tell me a little bit about your journey and how that’s all come about?
Domenic:
Sure. Throughout my whole life, I’ve had a lot of different bleeds. Some were very, very severe. Some not necessarily as severe, but still required hospitalisation. And some obviously were just general bleeds that many a person with haemophilia would get.
Because a lot of the bleeds that I would have would be quite severe. I found a lot of times in my life I would have a lot of problems, as you would when you’ve got joint problems and permanent damage as well comes with that.
So I sort of got into gene therapy via obviously all of these problems that I had. I got a call in 2018 asking me if I wanted to go on to gene therapy. It did take a little bit of time before I properly said yes.
I researched, I prayed on it, and I did a few other things as well, and eventually came down to saying yes. And went through all the paperwork did all the blood tests. And I went on to gene therapy.
Pauline:
Who were some of these people that you spoke to about gene therapy that helped sort of influence that decision and inform you about that process?
Domenic:
A lot of it was my doctors and nurses at the hospital that I would regularly attend, and some of it as well, was speaking to my peers and my friends who, although they don’t have any experience in haemophilia, they are my friends and they would willingly let me know whether or not they believed it was the right thing to do.
So I have a lot of very wise and understanding friends, which is very helpful for me because I’m not always wise and understanding and my family as well. I should say they all helped me really see things in different perspective.
If they had any worry, they would voice it to me and I would keep that in mind. And I would obviously bring it up if I didn’t know the answer.
Pauline:
Can you please walk me through the process of actually having gene therapy?
Domenic:
Yes. So I got a call from the nurse at the hospital that I was at who informed me that it was an option and said, take your time, make sure you’re doing the right thing, and then get back to me, and then we’ll start the process.
So once I accepted, I went in and they gave me a bunch of different forms that I had to read through and sign. A lot of it was the actual gene therapy itself explaining all about it, like every single thing about it. It was like it felt like 50 or 60 pages worth.
The Bible of gene therapy. The Bible of gene therapy. Yeah, it was huge. It was a lot of reading, but they gave it to me and they said, come back in a couple of weeks after you’ve like, read through it, make sure everything’s all good. If there’s any questions, we can answer it.
Obviously I went back, I made sure I read through everything, signed it, and there was also quality of life forms that you have to do as well to explain how your life is when you’re not on your gene therapy, what it was before.
Then you get a lot of blood work done, a lot of blood work done.
Pauline:
Have you got any blood left?
Domenic:
I’m pretty sure I do. Thankfully it replenishes. I had a lot of blood work done on that regard. Thankfully, I got past that point.
Obviously they had to make sure I didn’t have any inhibitors. That’s a big problem as well. If you have inhibitors, you can’t go onto it.
Pauline:
So what was the day like when you got your gene therapy? Was it a big, exciting day?
Domenic:
It was a very big and exciting day because you built it up in your head a lot. I had been it had been ten months since I first heard about it. And then the day comes and you’re like, all right, let’s get into it. I’m ready to go.
Well I got to the hospital about 7:00 in the morning, probably the earliest I’d woken up that whole week. Whilst you got your blood work done. They make sure everything’s okay after that has happened.
Essentially, they don’t need you to go because they’re trying to defrost the virus. That’s what they say.
Pauline:
That makes sense because of course they wouldn’t want to have it prepared in advance because if they did your blood work on the day and it wasn’t suitable, then they don’t want to waste the gene therapy.
Domenic:
Yes. That’s correct. Yeah. That’s correct. They don’t want to waste it. So they defrost it on the day and they make sure everything’s okay.
So I got back to the hospital. They asked, are you sure you’re ready to go? Last chance to back out. Once it’s done, it’s done. And I said, okay, I’m ready to go. Let’s do it.
It takes roughly around about an hour and a half to two hours, depending on how much they’re putting in.
Pauline:
That’s an infusion is it?
Domenic:
Correct yeah it’s an infusion. It’s an infusion with a virus. But the virus isn’t harmful to humans.
It’s a virus that you can pick up without even knowing you picked it up. Which is why they have to do all the blood test beforehand. Once that’s all done, you go back into a waiting area and you’re there pretty much the rest of the time up until around about midnight, because they have to make sure there’s no adverse effects.
Pauline:
Yeah, okay.
Domenic:
Thankfully they do provide dinner, which is always really nice. I needed to eat after all of this.
It was obviously a really big day, but it was also a really good day because you knew what was coming up in the future.
Pauline:
So talking about the future. So how soon after having gene therapy, did you notice any effects? I assume things changed.
Domenic:
Yes, they did very much so. After gene therapy, it took about four weeks. For the first four weeks.
They say you have to do you have to do your normal medication as you would all the time. Did my last dose and I knew it was my last dose and I was like, all right, I don’t have to do this ever again.
So what they do is that they have a set day where you get your bloods done, like they know where your levels would be if you have medication the day before, for example, so they know where it would be. And they see what happens if the gene therapy brings it up higher, if it brings up higher, they know it’s working.
Pauline:
So talking about your factor levels, can you tell me what they were like prior to gene therapy and then what they sort of got to after that four week point when you noticed things were improving.
Domenic:
Yeah. So mine were trough levels were zero. I had I had nothing left. No factor. No factor at all.
During gene therapy, they were they would slowly rise on their own. I think it was low hundreds if I can remember correctly. I can’t remember the specific number, but ….
That’s getting to the point of sort of mild haemophilia.
Domenic:
Yeah, yeah, yeah. Well actually ended up going above mild haemophilia for me, which was great.
The way that it goes is if you imagine a graph, it sort of it starts off at its highest point and then it just, it will dip and then plateau and then dip and then plateau. And that’s what it did with me.
So it’s sort of like gradually dipped and plateaued and then dipped and plateaued. The hope was that it got to a certain point where a plateau would never dip again.
Domenic:
For me, it went really high and then dipped and plateaued and dipped and plateaued and dipped and plateaued and never stopped.
Pauline:
During sort of that plateau period. How long would you say you had while the gene therapy was still effective and your factor levels were relatively high?
Domenic:
I would find that majority of mine would probably last around about three months before it would, the dip would start.
Like I would look at all the results and they would be like, oh yeah, that’s about the same level the whole time. Before it would start to dip again. And you go, okay, well now I’ve got to get ready for the next bit.
Pauline:
So it’s part of the process, right, that you have regular check ins after receiving gene therapy.
Domenic:
That’s correct.
Pauline:
So can you just walk me through what those check ins are and what the frequency is.
Domenic:
So the first six months is about are weekly. And then after that they went off a little bit.
So they go you can come into the hospital maybe once a month, but we’ll still get a home nurse to come out and do your bloods.
Pauline:
That’s a whole year, right, that you had to set aside to be available to have those follow ups and to receive those tests?
Domenic:
Yeah.
Was that something that you really had to factor in when you chose to have gene therapy to be available for that year, to go through that process?
Domenic:
I did, and I didn’t at the time. I didn’t have a job.
Part of the reason I didn’t have a job was because of the way my mental state was before gene therapy. I was severely depressed and quite there was a lot of self-worth issues that I had.
It was actually really easy because it was kind of like the only time I get out of the house, which is always nice.
Pauline:
You got to have a holiday to the hospital?
Domenic:
Pretty much yeah! Pretty much. Which is a weird thing to say.
Pauline:
So how was your life on gene therapy? So once your haemophilia obviously was less severe, what was life like for you?
Was it better you’re sort of saying you had those self-worth issues prior? Did you feel better mentally better in yourself?
Domenic:
Absolutely. It really forced me to understand that there were a lot there was something I needed to focus on that wasn’t me.
Like, yes, to a degree, it was my health. But it helped me understand that I needed to do a lot more. I needed to go somewhere, I had a bit more purpose, and I knew that I needed to do this not just for my sake, but also for others that were going down the same road that I have to go down in the future.
I don’t want them to do the same things that I did, or end up in the same position that I am.
Domenic:
You always want to make sure that the future generation has a better way of living than you do.
I felt that for the first time in a very long time, I actually had a really good sense of purpose, so it really helped me.
It changed my mental state, it changed my physical state in the fact that I was actually able to get out and do a lot more things, and I wasn’t in pain.
It gets to a certain point it makes it more manageable. So that’s why I was more than happy to do it.
Pauline:
Now, we alluded to this earlier. Your gene therapy didn’t work out in the long term, but you still seem quite positive.
So can you tell me a bit about the point when you realised it wasn’t working? And I guess your feelings around that and how it hasn’t negatively impacted you as much as someone might think?
Domenic:
Tackling that was a bit hard. At the start it was very difficult to I guess to understand why it didn’t work.
It’s almost like sort of like dealing with a death almost. I sort of equate it to that. You’ve got the five stages of grief. I think it is.
But for me, I sort of got through the first few stages and I came to the point of acceptance very quickly because for one, I had time to know. It was it wasn’t like an immediate it just stopped working. It was a gradual, this is what’s going to happen and there’s nothing you can do to stop it.
Domenic:
My next step is I’m going to have to go back on medication. All right. That’s okay. I’ve got a good support network around me, and a part of it was also my own sort of personal belief system as well.
I alluded to it before that obviously I go to church a lot. And so because of that, I felt that I had a big understanding that even if it didn’t work, everything was going to be okay.
Sort of all of that culminating together helped me really push through, get to the other side and understand that I my worth didn’t actually come from the gene therapy.
My worth came from me. My purpose was still to help people, and so it helped me really get past that point.
Pauline:
In terms of your haemophilia, are you …. I mean this in the physical sense, are you back exactly where you were prior to gene therapy or is it slightly improved? Slightly worse?
Domenic:
It’s actually slightly better. it almost feels like a reset to a degree.
So your body knows what it’s like now with gene therapy. It sort of wants that back. But it also knows that the pain is not anywhere near as bad because yeah, just everything feels a lot better.
So I found that I was a lot better after gene therapy than I was before it, and I also equate a part of that as well to the mental state.
Domenic:
So physically, like physically, I probably maybe look a little bit worse off, but I don’t feel it. I don’t feel any worse off. I feel better than I was on it before.
I’m able to push through a lot more than I used to, and I’m able to do a lot more than I used to.
Pauline:
What does treatment success look like to you?
Domenic:
Treatment success. It’s not equated to a cure.
Treatment success to me is what is the next step that you can take in order to help someone in the future? Because at the end of the day, I know what I’ve lived through and I don’t want anyone else to have to live through that.
And if I can help someone not live through the same things that I’ve had to live through, that is a success.
Domenic:
If I can stop someone from having to like, let’s call it as an example, like a kid, who goes through school and they get bullied because they live in hospital and they don’t live at home, and they can’t get to school on time because they have to go through all of these medication problems and, and their body is just not working properly and they get bullied for it.
Well, what’s the best way that you can help get through that? You can do the steps that I was doing, which was the gene therapy steps. You know, you won’t see I won’t see the success of it, but I know someone else will.
Domenic:
And that to me was the success story, which is why I was okay with it.
Pauline:
That’s really powerful, isn’t it, that you are able to be part of the success and part of that journey for not just yourself, but really for the entire community?
And I guess that’s the really cool thing about being part of a clinical trial, is that you are contributing to research and to further development of treatment and everything, so that’s really powerful.
What would you say about the gene therapy experience to other people with haemophilia?
Domenic:
To anybody that wants to go on gene therapy, do it if you’re afraid you can talk to anyone about it.
There are four things that you can get out of it, which I’ve seen everyone get out of it.
Point one: You’re going to get a time frame where you don’t have to do any medication, and that is a blessing of its own.
Point two: When you get to the end of it, there is a chance in which you could end up in a better position than you were before.
Point number three is you’re going to be helping the future, the ones that you don’t know.
And four you’re going to have a great time regardless. Like, yeah, it’s going to be tough, but it’s going to be good. A lot of things that you go through that are tough are good. Not all of them but a lot.
So remember those four things and you’ll get through gene therapy really, really well.
Pauline:
Thank you so much Dom for participating. I really appreciate you giving all of your thoughts and advice and sharing your story about your gene therapy experience.
Domenic:
Thank you very much for having me.
