Luke Stockdale - phaware® interview 560

From Knee Pain to Gene Discovery: One Family’s Unexpected Diagnosis

What started as routine investigations into hereditary knee problems turned into a life-altering discovery for Luke Stockdale and his family — a TBX4 gene mutation linked to pulmonary arterial hypertension (PAH). In this episode, Luke shares how his mother’s journey through years of respiratory care led to a rare diagnosis, and how it’s changed the course of his entire family’s future. With candor and urgency, he discusses the emotional weight of genetic testing, the inconsistencies in clinical care, and his mission to advocate for early detection and standardized monitoring.

My name is Luke Stockdale. I am based in the UK, in Holmfirth in England. My connection to pulmonary hypertension and all this new world to me is recently very new. The reason for that is my mom’s recently been diagnosed with pulmonary arterial hypertension, so PAH. If you asked me five months ago, what was this about, I would not know. But now I’m fastly learning and understanding it further and getting more depth and more understanding each day.
 
The link to this is I’ve been tested positive for TBX4, the gene mutation, and one of the connections there is with pulmonary hypertension, et cetera. Within my family, a lot of us have been tested and that’s gone through my direct family history and also my mom’s sister and brother being tested, as well. If you look at Sheffield, where I’m originally from, there’s about 14 of us awaiting testing. Six have been tested positive and two have tested negative for the TBX gene mutation. So the story of me becoming on this podcast is that journey of understanding what TBX4 is about and spending some time with the TBX4Life charity. That’s where we’re at and that’s happened in a very, very short amount of time.
 
It’s really interesting that the actual driver or the catalyst for change on this wasn’t my mom’s breathing or any issues there. It was actually knees and hereditary knee problems that was investigated to see if it was gene issues or anything that could be identified. That’s what started the journey off. My grandad had bad knees, my mom had loosely bad knees to a degree. Me and my brother had bad knees and we had operations when we were younger to try and rectify our knees. We got told that was small patella syndrome, et cetera. We didn’t really get diagnosed with anything from it. We just had hereditary bad knees. So that was the point.
 
But my mom in her 30s got diagnosed with bronchiectasis and breathing problems. Now whether there was underlying problems from a young age, we don’t know that, but mom had breathing problems and got diagnosed with bronchiectasis and Mounier-Kuhn’s within her 30s. Now what that meant was my mom, she was under respiratory care for a long time and what you then saw from her 30s into her 50s, all just being treated with a respiratory team in Sheffield, which is fantastic and really good care that she received there and is still receiving. Then, obviously my mom in the last couple of years, that has then manifested itself into pulmonary arterial hypertension, which has then took another journey. What we’ve kind of got is symptoms of TBX4 gene presenting themselves in different ways in different family members, but the worst impacted is my mom.
 
Now on that journey, we’ve also been tested ourselves as family members. This is no criticism of anyone because what I want to do is try to see how we can start to build a community of awareness on the impacts of TBX4. What I mean by that is how do we monitor, because we’ve had a variance in our care amongst all my family members. Some have had sleeping tests for breathing, some have had ultrasounds, some have had echocardiograms, some have had blood tests. It’s such a variance in care and we all live within a locality of 30 miles from each other. How do we raise the profile and put a monitoring care in, because we are likely going to potentially get pulmonary hypertension at some point in our life or something. How do we try and catch that as early as possible and raise the profile amongst our clinical community?
 
Luckily for us, Sheffield is one of the seven or six centers within the UK that is like the tertiary center for pulmonary hypertension. So that’s really positive. We’ve got a center within our communities, but other people around the UK have quite a distance to travel, but luckily for us we don’t have that and that’s just by a fluke. The bit for me is how do we start to raise the profile, how do we start to get a level of consistency in the ability to report and monitor, and also diagnose these things so we can try to catch them early. That’s something I’m really interested in working TBX4Life for and some of my background working within the NHS. Now, I don’t work in the NHS as a clinician, I’m not a clinician. I project and program management and work in digital health space. That’s my background.
 
But I understand some of the workings of the NHS and some of the challenges. So one of the things for me is how can I bring my support to TBX4Life and the charity and the network and the ecosystem to try to put this at the forefront of what we want to do and get people tested correctly, but then also put that annual monitoring in if you did end up with pulmonary hypertension but it was caught as early as possible to obviously give you the better treatment plans later on in life. That’s what I’m really keen to work upon and see what I can go on from there.
 
One of the reasons I wanted to volunteer for TBX4Life is I didn’t understand. I got a genetics report and it just said you’ve got TBX4 gene mutation and these three things could potentially happen in the future, but we don’t know any more than that. I wanted to donate my time. Personally for me, I want to make impact and that for me is one of my key values and drivers is I want to leave this planet and know that I’ve made impact and I’ve done right by people and that’s why I wanted to volunteer my time.
 
One of the things that really has started this journey for me with TBX4Life is the conference in San Francisco. One of the things I wanted to do there was work with them on producing a scientific roadmap on how can we look towards a cure for TBX4. Parts of that is bringing together really, really clever people who are working on different projects around the globe and particularly in the US and about how we can start to work to them and share good practice amongst each other, but also making sure that people are aware of what other people are doing. Because what we don’t want to be doing is duplicating effort in areas.
 
One of the big tasks that I’ve come away with is how do we look at trying to produce this five-year roadmap. Now this is not my roadmap, it’s the scientist roadmap and the clinicians roadmap who were present at the conference. All my skill is to tease out the knowledge out of their mind to put that onto a plan and it’s going to have some iterations to get to it. It’s not going to happen overnight, but it’ll take me a couple months to get to that point for them then to be able to publish that in papers that they want to do and what they need to have that acknowledgement for that of pulling that together. 
 
But then hopefully what that does is gets us all into that shape of working towards a common vision and everyone being made aware of where they can collaborate together. One of the things that I found really useful at the conference, so then light bulb moments where you see two scientists on the side of the US talking and they’re like, oh, we could collaborate on this piece. That was really rewarding for me to see those kind of conversations happening. 
 
Obviously, I’ve mentioned that multiple members of my family are in the process of getting tested or have been tested. I think it’s a mixture of emotions across different family members. Also, the advice we’ve been given — some advice we’ve been given is we don’t test our children. So that then sits on your mind thinking, should we actually test our children for the TBX4 gene? They’re not showing any symptoms. But then there’s conflicting advice, then you do your own research and then actually you sit there saying, actually you need to be tested and you need to start working through. So to me there’s a definite challenge in a mixture of emotions because you’re trying to do the right by your children. 
 
You’ve also been going through this journey yourself. For me personally, my mom’s got severe challenges in regards to her breathing and having pulmonary hypertension. That’s one thing. For me personally, I’m like a sandwich in the middle where I look up, I see what the impact of pulmonary hypertension has had on my mom, and I’ve also think could that come to me, and then also what about my children, as well. Rhat’s why I want to try and understand as much as I can with it and try to help support and try to monitor where we can go.
 
Some family members, I can totally say I can see they’ve delayed going through the testing, because actually would you want to know that you’ve got that gene mutation because then the chances of you getting something like pulmonary hypertension have dramatically increased. I can see that weighing on them. But I think now because there’s the knowledge and my involvement in TBX4Life, I think people coming round to that within my family. I think we’re all now signed up to get tested because we knew we want to drive that forward. Especially, within the UK, there’s the Great Ormond Street hospital, which is the center for pediatric pulmonary hypertension. If we need to get our children tested or screened or wherever that is, we need to start tapping into these organizations to really drive that monitoring capability. Because at the minute, all of my family members are not presenting with pulmonary hypertension, but we know that it potentially could happen to us. That’s a bit of an unknown, as well.
 
In terms of symptoms, we’re not showing breathing or heart issues or no symptoms in that space. Now I’m not saying that won’t develop further. We need to get some baseline testing. For me, I’ve had my annual check now and come back fine, but now we know I’ve got a baseline where we can go back next year and see if it’s improved, not improved, et cetera. Whereas, some of my family is still going through that journey to get that initial baseline testing.
 
But back to my point before the variance in the testing, we need to work on how we can get a standard set of guidelines in to say, actually if these patients are at risk of pulmonary hypertension, these are the kinds of tests that need to happen X, Y, Z. I don’t know what they are. I’m not a clinician. But we need to start to say how do we do that testing? Now, that’s not the experts because the experts know that. It’s about how do we put that across the entire clinical workforce to increase the awareness about it. Because I think people are, when they’re testing and they’re working in this space, they’re trying to work this out as they go. 
 
Whereas, actually if we can make this awareness spread across the clinical workforce, then I think there’s a big thing about, “Dare to think rare.” It’s actually, let’s think about some of these rare diseases and understand them in more detail because then we can start to pick them off and understand them. But we need the profile to be raised about them. That’s why I’m involved with TBX4Life. I think for me it’s part of an ecosystem of other organizations like yourselves and where we can work together to see how we can drive these changes forward. It will make a positive difference. 
 
I would love a couple of things to happen within the five years. And this is me speaking. One, I’d like all my family to be tested and that’s my cousins, my cousin’s children. I want us all to be tested. Then, I’d like to try and get some annual monitoring in and the manual health checks in so we can see where that baseline is and where we’re going. Within that, I think there might be some people who are going to have issues or challenges with the breathing, maybe. Touch wood, no one’s symptomatic at the minute, but that’s not to say because we’ve got a range of from four years old up to my mum and my auntie Liz who’s in her 60s. So we’ve got quite a big range there of family members. 
 
Then, the last thing I really want to do is we need to make our data available because we’ve got so much wealth of data there. We’ve got three generations within my family. We’ve got genetic coding, we’ve got tissue samples, and we want to do this because we need to be denoting this to clinical research or whoever needs to use this information to see what where they can make the impact. Because actually this doesn’t affect us for the next five years, but it affects us in the next 10 to 15 years. The things we could be actively doing now to try and stop it. If my family are asymptomatic, which is a good and a bad thing. It’s a good thing, but actually we also need to bear in the back of our mind when you talked about the emotional toil earlier on, we could develop this. I could be like my mum in a couple of years’ time, who’s permanently on oxygen now, really challenging with mobility, et cetera.
 
So there are things we can do now and we can give these things back. That’s the thing that I’d like for my family and all my family supportive on doing that, providing data. We want to donate what we’ve got to as many scientists, clinicians, genetics people, research people who want it, because then they can use that data. 
 
If that benefits one person, how positive is that going to be. That might be for TBX4Life, it might be pulmonary, might be small patella syndrome, whatever it will be. But if it’s starting to enhance our knowledge of this disease, it’s a positive thing for me. You’ve got to try and help somehow, haven’t you? So that’s what I’m trying to do.
 
My name is Luke Stockdale and I’m aware that my family is rare.

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