Case #28: Ian

Summary

Symptomatic: A Medical Mystery Podcast

Episode: Case #28: Ian
Date: November 18, 2025
Host: Lauren Bright Pacheco
Guest(s): Ian Stedman, Barbara Stedman, Dr. Ronald Laxer

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Episode Overview

This episode explores the decades-long medical mystery faced by Ian Stedman, his mother Barb, and eventually his daughter, all suffering from mysterious, debilitating symptoms. The episode delves into their struggles for recognition, diagnosis, and effective treatment, culminating in a multi-generational breakthrough that saved—and transformed—their lives.

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Key Discussion Points & Insights

Ian and Barb’s Early Experiences with Chronic Illness

• Early Childhood Symptoms

  • Ian: Frequent skin rashes, headaches by middle school, and the need to hide visible symptoms.

    "There was one day my eyes were so flared I couldn't see." — Ian Stedman [00:06]

  • Barb: Lifelong headaches, joint pain, rashes, and a sense of worry watching the same unfold in her son.

    "When he was only a few months old...he would come in with red blotches all over his body. And I thought...it must be the sun. But then it would happen inside..." — Barbara Stedman [03:09]

• Coping and Isolation

  • Ian felt alone with his symptoms, often dismissed by doctors, and grew skilled at hiding his condition.

    "Kids show up to hockey, they get changed in the dressing room. I didn’t. I showed up to hockey covered, right? … Got to a point where I just wouldn’t wear T-shirts or shorts anymore." — Ian Stedman [05:20]

• Medical Dismissal

  • Both Ian and Barb repeatedly encountered uncertainty and misdiagnosis.

    "The explanation was always basically the scientific way of saying, I don't know. So chronic idiopathic urticaria..." — Ian Stedman [06:40]

Searching for a Diagnosis

• Impact on Life Trajectories

  • Ian’s symptoms shaped his education and career choices, favoring environments where attendance wasn’t mandatory.

• Giving Up on Answers

  • After years of fruitless doctor visits, Ian resigned himself to living with unexplained symptoms.

    "At the point when I went to join the workforce, I had totally given up on searching for answers. I figured the answer is, I've just got to navigate this." — Ian Stedman [10:30]

• Medical System Challenges

  • Dr. Laxer contextualizes the tendency for patients to be passed between various specialists without connecting the dots.

    "It's kind of like the blind man and the elephant...everybody sees a different part and calls it a trunk or a tail or a limb." — Dr. Ronald Laxer [12:08]

A New Generation, Renewed Urgency

• Daughter’s Birth and Recognizing the Patterns

  • At the birth of his daughter Leah, Ian and Barb immediately recognized the rash; the family legacy of illness was undeniable.

    "I saw her skin. It looked like what I had. She was born basically with red blotches on her skin." — Ian Stedman [14:30] "It looks exactly like what we have. And I looked at Ian and we just nodded. We knew. We knew she had it." — Barbara Stedman [16:07]

• Turning Point

  • Leah loses the ability to walk before her first birthday, prompting Ian’s determination to finally find answers.

    "That was the day the deep feeling of failure set in but turned into a motivation which was, it's not good enough for me to not have answers anymore." — Ian Stedman [17:19]

The Breakthrough: self-advocacy and Diagnosis

• Becoming His Own Detective

  • Ian combs medical journals, dermatology papers, and ultimately, Google Images for symptoms resembling his family’s, leading to the discovery of "Muckle Wells Syndrome".

    "I found one picture in Google Images that looked like me." — Ian Stedman [20:32] "I saw it, I clicked it, and then it took me to a man's blog who is German...What I could read was...Muckle Wells Syndrome." — Ian Stedman [22:00]

• Connecting with Dr. Laxer

  • A timely email to Dr. Ronald Laxer—Canada’s leading autoinflammatory disease expert—finally results in validation and a path forward.

    "This is the first time I’ve ever spoken to a medical professional and felt like they listened and understood something and believed me was him replying, saying, I think you’re onto something." — Ian Stedman [27:10]

• Official Diagnosis

  • Genetic testing confirms Muckle Wells Syndrome for Leah, Ian, and Barb, bringing closure and new questions.

    "One in three people untreated with Muckle Wells just don’t wake up...I may have avoided death because my daughter was born sick." — Ian Stedman [23:57]

Understanding and Treating Muckle Wells

• Doctor’s Explanation

  • Muckle Wells is a genetic, autoinflammatory disease causing inappropriate immune responses.

    "Mucklewell syndrome is part of a group of disorders which are genetic in origin...may kick off an inflammatory cascade that leads to all the signs and symptoms of fighting off an infection. But there’s nothing there." — Dr. Ronald Laxer [24:51]

• Treatment

  • No cure, but highly effective (and expensive) immunosuppressant drugs can neutralize symptoms.

    "There’s an injectable drug that plugs the protein...$16,000 every eight weeks for this needle that effectively takes away my one in three chance of death by 36." — Ian Stedman [34:35]

• Barriers to Care

  • Insurance and policy hurdles abound, and advocacy is crucial for life-sustaining access.

    "The first time we submitted under her plan, they denied us... Dr. Laxer...wrote them, he got their decision reversed and we started to see formularies. Now my mom's formulary had it. And then slowly over time, every major formulary in Canada has added this drug." — Ian Stedman [37:01]

Transformative Results and Ongoing Advocacy

• Immediate Impact

  • The medication is described as "a light switch"—symptoms disappear virtually overnight.

    "So we took the medicine, we woke up the next day and it was a light switch. It was all gone the next day." — Ian Stedman [38:09] "The day I got my first needle was the last day I had pain, last day I had a headache, last day I had hives." — Barbara Stedman [38:16]

• A New Lease on Life

  • Barb now leads a walking group in her 70s, Leah has never had to know the shame of visible illness, and Ian can finally wear shorts in public without thinking about it.

    "I just went grocery shopping in shorts and a T shirt, and it's such a nothing burger. But it was so much." — Ian Stedman [45:23]

• Perspective and Reflection

  • Despite decades of struggle and uncertainty, the family emphasizes resilience, compassion, and the importance of patient-driven advocacy.

    "Who we are is and what happens to us is who makes us who we are. I learned how to deal with pain. I learned how to be more compassionate to others because my pain was invisible." — Barbara Stedman [42:45] "I feel relief in the idea that maybe I was able to pay her...to give her something in return for that, which must have been an impossible effort on her part..." — Ian Stedman [43:28]

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Notable Quotes & Memorable Moments

• On Medical Dismissal:

  "It was the scientific way of saying, I don't know." — Ian Stedman [06:40]

• On Parental Guilt and Motivation:

  "Immediately, you failed as a parent. The second feeling you have is, I failed them. They don't know it yet, but I failed them because I didn't figure this out first." — Ian Stedman [18:15]

• On Finding Community and Validation:

  "No one's ever cared before, right?...I wasn't just a chronic idiopathic Stedman. Not anymore." — Ian Stedman [30:26]

• Promise of Healing:

  "One of the most vivid memories I have...is him turning to me while I'm sitting there in my underwear and saying, we'll have you in shorts by summer." — Ian Stedman [32:13]

• On the Power of Stories in Medicine:

  "I think storytelling has become a much more important part of medicine, much more prominent role in education, getting people to tell their stories." — Dr. Ronald Laxer [30:53]

• On Advocacy and Systemic Change:

  "With Dr. Laxer's help, we petitioned my wife's employer's formulary to add the drug...slowly over time, every major formulary in Canada has added this drug." — Ian Stedman [36:14, 37:01]

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Important Timestamps

• Ian’s Early Symptoms & Family History: [01:19]–[07:59]
• Adolescence, Coping, and Medical Uncertainty: [08:48]–[12:53]
• Leah’s Birth & Recurrence Through Generations: [14:00]–[18:31]
• Research and Breakthrough: [19:24]–[22:33]
• Discovery of Muckle Wells Syndrome: [22:33]–[25:39]
• Diagnosis and Meeting Dr. Laxer: [25:50]–[31:39]
• Treatment and Advocacy: [34:06]–[37:53]
• Immediate Impact of Medication: [38:09]–[39:48]
• Reflections, Advocacy, and Looking Forward: [40:36]–[45:23]
• Full-circle Moment: Ian in Shorts & T-shirt: [45:23]

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Takeaways

• The struggle for a diagnosis profoundly affects not only patients, but entire families over generations.
• Persistence, informed self-advocacy, and compassionate medical partnerships are critical in rare disease journeys.
• Achieving a diagnosis—even for an incurable disease—can bring empowerment, relief, and practical change.
• Access to life-saving medications remains an ongoing battle, requiring both personal and systemic advocacy.
• Sharing patient stories is not just cathartic but essential for medical progress, understanding, and compassion.

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Resources:

• Canadian Autoinflammatory Network
• SickKids Hospital

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Transcript

[Cosentyx Advertisement Voice]

Ruby.

[Ian Stedman]

There was one day my eyes were so flared I couldn't see. And I remember on that day wondering, where is this going? What is this? Is this getting worse?

[Barbara Stedman]

It looks exactly like what we have. And I looked at Ian and we just nodded. We knew. We knew she had it.

[Dr. Ronald Laxer]

It's not curable. It's a genetic change. And so that's in your body all the time.

[Ian Stedman]

One in three people untreated, just don't wake up. Everyone has their cross to bear. This is mine. This is my burden. Now I've got a kid.

[Lauren Bright Pacheco]

How terrifying would it be to fight an unknown enemy, one you didn't recognize and didn't see coming? What if that enemy was coming from within? A disease that even doctors couldn't identify. Nearly half of Americans suffer from some chronic illness and many struggle for an accurate diagnosis. These are their stories. I'm Lauren Bright Pacheco, and this is symptomatic.

[Ian Stedman]

I am from a regular old household family. I have one older brother, two parents born just outside of Toronto, Ontario.

[Lauren Bright Pacheco]

That's Ian Stedman. He is a lawyer, professor and father of three. Ian is a thoughtful, measured speaker, extremely friendly and quick with a joke.

[Ian Stedman]

Grew up like a normal suburban kid in a growing community. Went to primary school in a French immersion and was raised around all boys playing sports at all times.

[Lauren Bright Pacheco]

I'm going to wager hockey was involved.

[Ian Stedman]

Hockey, yep. Definitely baseball. Five pin bowling was one of the things that was big back then. My youth was spent school and sports, really. So.

[Lauren Bright Pacheco]

So for somebody who has not had the pleasure of meeting Ian, how would you describe him?

[Barbara Stedman]

Very intellectual. He can be intense, but wickedly funny and really dedicated to his family and to making a difference in the world.

[Lauren Bright Pacheco]

That's Ian's mom, Barbara. Barb suffered most of her life from debilitating headaches, extreme joint pain and unexplained rashes. When Ian was born, it was clear to Barb that he too was afflicted by whatever it was that was causing her own symptoms. What is your earliest memory of thinking he might have more in common with you in terms of your health challenges? Do you remember seeing a symptom and thinking, this is familiar?

[Barbara Stedman]

When he was only a few months old, we had a family cottage and we would go there and I'd put him under the big shade tree, but he would come in with red blotches all over his body and I thought, I can't put him out there, it must be the sun. But then, even if I had him inside, he would still get the red blotches. So I knew that was the same as I had got. And he was only a few months old.

[Lauren Bright Pacheco]

Your mother also navigated health challenges of her own. Tell me your earliest childhood memories of realizing that your mother was living with a health condition. And how did that manifest itself?

[Ian Stedman]

My mother had all the same symptoms. Some of them will flare and others will not. For her, she got really bad migraine headaches. And that would be where mom was in the bedroom with the lights out. And you just leave her alone for a day until she resurfaces everything else. When her skin had blotches or her eyes were red or arthritis, she powered through. My brother never had the symptoms, obviously my father never did. And I ended up with the headaches.

[Lauren Bright Pacheco]

And when did the headaches start?

[Ian Stedman]

When I was in middle school. Right. Grade 6, 7, 8. Things really started to have an impact on my day to day where I would be at school and I'd have to go off to the principal's office to find a dark room because I had a headache.

[Lauren Bright Pacheco]

Barb hoped that Ian would be spared from the escalation of symptoms she knew so well.

[Barbara Stedman]

I think you just worry. You worry about how bad it will get for him. My hives didn't really get bad until I was in my 20s and so his didn't turn up all the time, which made me very relieved. But then as he got to be a teenager, they turned up almost daily and that really worried me.

[Lauren Bright Pacheco]

As Ian got older, he grew more self conscious about hiding his skin covered in rashes that he did not know how to explain.

[Ian Stedman]

Kids show up to hockey, they get changed in the dressing room. I didn't. I showed up to hockey covered, right? Long sleeve shirt, long underwear, never removed them. I would be very careful not to have more skin exposed than necessary so that I didn't have to have people looking at me and noticing the difference. Got to a point where I just wouldn't wear T shirts or shorts anymore because I didn't want. It presents as though you have a disease of some sort or you're reacting to something.

[Lauren Bright Pacheco]

This rash, red, well defined and raised from the skin, was not the only symptom growing more intense for Ian as he went through puberty and started becoming a teenager. Now you're going to doctors at the time. So were you feeling any other symptoms in terms of pain or aches?

[Ian Stedman]

Constantly. Bloodshot eyes that I couldn't get rid of the skin rash. I actually now have 20% hearing loss in one of my ears, arthritis. So I would have joint swelling. It wasn't debilitating most of the time. It was like the ball of my big toe or my heel or a wrist that got in the way of sports. As I went into adolescence, as well as the body was growing.

[Lauren Bright Pacheco]

What kind of explanations are you getting in your early adolescence and teenage years for what's going on?

[Ian Stedman]

The explanation was always basically the scientific way of saying, I don't know. So chronic idiopathic urticaria, a description that I got of my skin, which is, I don't know, arthritis is arthritis. So you just take an anti inflammatory or a painkiller and that sends you on your way. They had no idea how to treat that. Headaches, they don't know what to do with those. And then the eyes was the tough one because I would jump around from ophthalmologist to ophthalmologist trying to figure that out. I was just taking Visine over the counter. Visine to take the redness out whenever I could. But no one had any explanation really.

[Lauren Bright Pacheco]

Every household has a doctor mom. How did your mom help you treat those? And how did she help you navigate the emotional toll of something that she shared too?

[Ian Stedman]

I think the biggest thing that she did was to insulate me from the social. If there was a day where I wasn't feeling up for normal, everyday childhood things, it wasn't made a big deal. It wasn't like I was letting my family down for not being able to go to this sport or this activity or being able to go to school today. She was always there to backstop that and to never make me feel like I like my decision to not do something was a problem. To never make me feel like I was letting anyone down by being sick.

[Lauren Bright Pacheco]

Did that bond you on some levels. And how did that impact the way you mothered him?

[Barbara Stedman]

Yeah, there's a connection because we both had. We understood how the other felt. Ian said he had a headache. I knew he had a headache. I didn't have any doubts about it. When Ian always needed a jacket to match his outfit, he got it because I knew it wasn't to match his outfit, it was to cover the hives. You have an awareness of how you have to care for him.

[Lauren Bright Pacheco]

With his mother's guidance, Ian made it through high school and went off to college to study law, carrying with him the tools he learned to manage his symptoms.

[Ian Stedman]

When I went away to university in the year 2000, I had learned how to deal with it. And so I stopped worrying about it. I did what my mom had taught me to do. Right. If there Was a tough day where it was just too much. I just didn't go. I would stay home. I did almost no extracurriculars when I was away at university. I don't think it progressed per se, but I do think it became my burden. My mom couldn't shelter me from it or protect me from it or buffer me from it. It had to be me figuring out how to manage that. I'd have flares. I'd go to bed covered in hives, wake up. I'd go to exams with my hat low and sunglasses on, or my arms covered up in the middle of summer. There was a whole bunch of ways in which the normalcy of life was interrupted by a flare.

[Lauren Bright Pacheco]

How did you manage academically while dealing with all of that?

[Ian Stedman]

I think the academics were actually an escape from real life. I mean, I stayed in post secondary for 14 years. It's easier to do that than to show up at work every day. It's easier to sit in front of your desk and read something and write an essay than to show up and to have to be physically present when you don't know what you're dealing with on a day to day basis.

[Lauren Bright Pacheco]

Are you still pushing though for a medical explanation at this point?

[Ian Stedman]

Great question. During my second or third year of university, there were a couple of weeks where I thought, oh, I'm in London now, I'm not in Toronto. Let's go see what the doctors hearsay. I ended up with the same answers from everyone.

[Lauren Bright Pacheco]

What would those answers have been? How were they offered and did you feel dismissed?

[Ian Stedman]

It's not like they didn't meet me and run the tests and try to figure it out. But nobody was piecing together anything. It was looking at arthritis and saying, well, this is how we treat arthritis. Take an Advil. It was looking at a headache and saying, we'll take a Tylenol. Here's some eye drops. It was the same thing. And because I didn't look like I was dying, it wasn't important to figure it out. It was, here you go, get on. So I did give up. At the point when I went to join the workforce, I had totally given up on searching for answers. I figured the answer is, I've just got to navigate this. I've got to find a way to make it work. Because everyone has their cross to bear. This is mine, this is my burden.

[Lauren Bright Pacheco]

Dr. Ronald Laxer says this experience is common for patients who can't be diagnosed quickly or with a common condition that is instantly recognizable.

[Dr. Ronald Laxer]

Patients will see their family doctor Their pediatrician. They'll then be referred to skin doctors or eye doctors and they go through their general differential or an approach to disorders in those systems and it doesn't fit the usual suspects. And so they'll often say, well, you don't have all the things I know about, so sorry, I think you'll have to live with it. And I think that's what happened with Ian quite a bit.

[Lauren Bright Pacheco]

Ian was told on multiple occasions that his symptoms were not connected. Is that common that, that a doctor might not see? There is a link, yeah.

[Dr. Ronald Laxer]

I think that's the case. Kind of like the blind man and the elephant and everybody sees a different part and calls it a trunk or a tail or a limb. So I have to find somebody maybe who knows about these things or is working in that area rather than saying, I did everything I can, I'm really sorry, I can't figure this out. And also, patients get incredibly frustrated too. So it's very impactful on the quality of life. But the hives by themselves or the eye inflammation by itself isn't going to, I don't want to be pejorative, but isn't going to kill you. So everybody gets fed up and they kind of stop looking. This is what it is. I'm going to have to get used to this.

[Lauren Bright Pacheco]

And that is what Ian does. He moves forward, carrying with him what he believes is his burden alone, and goes on to fulfill his childhood dream of becoming a lawyer, working in private practice and then moving on to the office of the Integrity Commissioner in the Legislative assembly of Ontario. Although he is succeeding in his career, Ian's symptoms continuously interrupt his ability to function. He is often forced to ask co workers to cover for him in meetings because he can't even open his eyes from the swelling or is self conscious about the redness. He's even been forced to work out a system with his boss in which he hides in her office and closes all the blinds to ride out one of his horrific sneak attack headaches. He feels that the disease has forced him to the sidelines more than once in his career and in his social life, including dating. Serendipitously, Ian reconnects with an old friend from high school, Amy, and they fall in love.

[Ian Stedman]

We married in 2009. The family didn't start until 2012. We were of that generation where we spent a year or two trying to figure out how to make a family. And then when it did happen, our first little girl, now 13, was born in 2012. That's when she joined us.

[Lauren Bright Pacheco]

Beautiful what is her name?

[Ian Stedman]

Her name is Leah. Yep.

[Lauren Bright Pacheco]

What do you remember about the day Leah was born?

[Ian Stedman]

I remember very vividly being at the hospital and when Leah was born, what should have been the most joyful experience of just life. When we saw her. Happy, crying, tears, excitement. But I saw it. I knew what it was. Immediate anxiety came in. In a moment that should have been all pure joy and excitement. I saw her skin. It looked like what I had. She was born basically with red blotches on her skin. But it's interesting, right, because when a baby is born and you turn to the doctor and say, what's wrong with their skin? They say babies are born with. They have spots on their skin. It'll go away. But that doctor doesn't know my story and my mom's story, our history. Doesn't know what I see when I look in the mirror. Doesn't know the anxiety that I experience every day. Getting up, trying to figure out what do I gotta do today to navigate my symptoms. That's the exact same thing that I think when I look at her being handed to her mother as she's born is, oh, shit, is she going to have to live the same life? Did me giving up on looking for answers just doom this one to the same existence?

[Lauren Bright Pacheco]

Ian is not alone in this fear. Barb also recognizes the familiar rash.

[Barbara Stedman]

Immediately, my first thought was, of course, it's exactly what Ian and I have. She had the rash. I just looked at Ian and we just nodded. We knew. We knew she had it.

[Ian Stedman]

This wasn't just my burden. Something was going on here.

[Lauren Bright Pacheco]

Ian takes paternity leave to spend more time with Leah while she grows. Though her first months are full of joy, love, and excitement, this lingering fear of what is to come for her is ever present in Ian's mind.

[Ian Stedman]

It was in the three months that I took pat leave. You know, everything was the same. We had this kid with the spots. That was it. It was just the spots. She starts walking at, I want to say like 11 or nine and a half, 10 months. Like, it was right in there really early. Probably because she had so many people helping her firstborn. The whole family's around, right? There was a period just before one year where she reverted to crawling.

[Barbara Stedman]

She stopped walking because as far as Ian could tell, her hip hurt. She had joint pain, and she couldn't walk.

[Ian Stedman]

Something was happening. And that was before she was verbal. She can't explain what she's experiencing or going on. And she wasn't crying, but she just wasn't walking anymore. That was the day the deep feeling of failure set in but turned into a motivation which was, it's not good enough for me to not have answers anymore.

[Barbara Stedman]

More than the hide, that's what motivated him at that point. It was like, nothing's stopping me until I figure this out. He was not going to have his daughter go through the same thing.

[Lauren Bright Pacheco]

I can't imagine that mix of emotions and ultimately guilt and not wanting your daughter to suffer those bouts of shame and insecurity and pain that you had to endure.

[Ian Stedman]

I think you hit the nail on the head with guilt. It's a feeling like immediately you failed as a parent. The second feeling you have is, I failed them. They don't know it yet, but I failed them because I didn't figure this out first.

[Lauren Bright Pacheco]

Wow.

[Ian Stedman]

And that doesn't leave you like that still to this day. That's one of the motivating, animating feelings in my life, is that perpetual fear of continuing to fail your child at this point. I've got a master's in philosophy, which is a research master's, a law degree. It wasn't until I had 10 years of post secondary research skills where I had the gumption to think that I could contribute to the pursuit of finding an answer. My wife worked at the University of Toronto at the time and so we had access to the library. And so I spent every evening reading medical journals about hives and rashes.

[Barbara Stedman]

He was so determined to figure out what it was. There were times when we come over and he would be on the strangest diet because he wanted to know if it was food. And I said I thought, who could eat raw eggs? He was doing anything he read to find out what was wrong.

[Lauren Bright Pacheco]

So you become a medical detective.

[Ian Stedman]

I tried. I couldn't read a medical journal for the life of me. The words that we use in science are much too large for Ian Stedman. So I was reading dermatology papers, looking at pictures, nothing. You know where I ended up? I ended up on Google Search. I searched skin rash and then I scrolled Google Images. This is pre AI days, right? So you can't just take a picture of my own skin, throw it on ChatGPT and say, find this. No, Ian had to scroll. So I scrolled and scrolled and scrolled and scrolled. The kid goes to bed at 8 o', clock, wife goes to bed at 10 o'. Clock. I sit up until 2 o', clock, just scrolling and scrolling and scrolling. I found one picture in Google Images that looked like me.

[Lauren Bright Pacheco]

We'll be right back with Symptomatic A Medical Mystery podcast join me, Dr. Panico with Cyndi Lauper and chef Michelle Bernstein.

[Ian Stedman]

To talk about plaque psoriasis and psoriatic arthritis.

[Lauren Bright Pacheco]

The potential connection and risk of developing permanent joint damage.

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[Lauren Bright Pacheco]

Now back to Symptomatic A Medical Mystery Podcast. After months of scrolling and multiple generations of lived symptoms in his family, Ian finds a single paragraph in a sea of millions that stops him in his tracks. Take me to that exact moment.

[Ian Stedman]

You know, it's. You know exactly what it is. I know my rash, I know what this is. I saw it, I clicked it, and then it took me to a man's blog who is German. So it was written in German.

[Lauren Bright Pacheco]

So you quickly learn German.

[Ian Stedman]

Yeah, I have an image, but I have a trail. Right. And so I could start figuring it out. And so what I could read on the page that was English enough for me to figure out was three words. Muckle Wells Syndrome.

[Lauren Bright Pacheco]

Muckle well Syndrome, a condition that at the time was so rare that it was only cited to affect 1 in 1 million people.

[Ian Stedman]

That was my next clue. That's the breadcrumb. And so I started googling Muckle Wells and I find out there's a couple of different symptoms of Muckle Wells, right? There's these red eyes, these chronic red eyes. There's these, the skin hives. Obviously it's an inflammatory disease. So there's arthritis, there's headaches. Okay, now I can go back to those medical journals and what's in there about Muckle Wells. And I find a paper that pieces together my medical history.

[Barbara Stedman]

I kind of hoped that he found something because if you have a name for something and you know what it is, it's easier to handle it no matter how devastating it is. It's easier because you know what you're dealing with is real. As he described this, I'm going, oh, yeah. Yep, that too. All of this is together. I couldn't believe it. All kinds of things that I didn't realize were all together. And so as he said it, it suddenly made sense. It clicked.

[Lauren Bright Pacheco]

The more Ian learned about the prognosis of untreated Muckle Wells, the more he understood how significant his discovery was.

[Ian Stedman]

One of the things I learned was if you're not treated, the protein that causes the inflammation actually causes amyloidosis in one third of Muckle Wells patients by the age of 36. And amyloidosis is kidney failure. It's just not waking up because the protein has shut down a vital organ. So one in three people untreated with Muckle Wells just don't wake up. My mom's over 36, so she seems to have bucked the trend. I'm running up against it, and now I've got a kid. So there's three of us. I may have avoided death because my daughter was born sick. If it wasn't for Leah being sick, I may be the one in three.

[Lauren Bright Pacheco]

How do you explain or define Mucklewell's syndrome?

[Dr. Ronald Laxer]

Mucklewell syndrome is part of a group of disorders which are genetic in origin, and they're associated with a mutation in a specific gene. That gene is helpful in helping us interact with our environment, and it protects us from infections and from foreign chemicals. When that gene activates, it brings several molecules together which allow our defense systems to fight off invading organisms or chemicals which are about to disturb the body. Now, changes in that gene may lead to spontaneous activation of those proteins, and they may kick off an inflammatory cascade that leads to all the signs and symptoms of fighting off an infection. But there's nothing there.

[Lauren Bright Pacheco]

Ready with a name. Finally, Ian must figure out his next steps. So, armed with that information, how do you go about getting a proper diagnosis?

[Ian Stedman]

Now I'm a researcher. Now I'm a lawyer. As a lawyer, your job isn't to know the law. It's to know how to find the answers to legal questions, how to identify the question and then find the answer. So I know what the question is. Now, what is Muckle Wells? So I found some answers in the medical journals. What's the next question? Who in Canada knows about Muckle Wells? So I'm googling Dr. Canada Autoinflammatory, and what I find is two doctors, one at SickKids and one formerly at SickKids, now in Calgary.

[Lauren Bright Pacheco]

Enter Dr. Ronald Laxor from earlier. Dr. Laxor is one of the foremost rheumatologists in Canada. Rheumatologists specialize in conditions affecting the joints, muscles, bones and connective tissue. Dr. Laxer is internationally recognized in the field of autoinflammatory disease and was an inaugural division head at SickKids. This is the moment in Ian's story where their paths cross and life changes for his family forever.

[Dr. Ronald Laxer]

I just happened to be in the right place at the right time for him. And I have been doing this clinic, it's called Autoinflammatory Clinic and I'm very interested in these diseases and making the diagnoses and getting drugs to patients like cold.

[Ian Stedman]

Email this doctor in the middle of nowhere and you can imagine like this is a blur because from the day that I found the picture to the email to the doctor, like it's within 72 hours, I'm just spinning. But I send him this email. His name is Dr. Ron Laxer. He's a very senior, very respected rheumatologist at SickKids. With this description, with the pictures with my daughters story, I wake up the next day at 8am I have a response in my inbox. This is the first time I've ever spoken to a medical professional and felt like they listened and understood something and believed me was him replying, saying, I think you're onto something.

[Lauren Bright Pacheco]

What Ian did not know at the time was that Dr. Laxer received this email while getting ready to present to a room full of leading rheumatologists.

[Dr. Ronald Laxer]

I was at a conference in Denmark and I was presenting a whole bunch of different cases, challenging cases to the audience and just to see what they think it is, what kind of test they would do. And one of them that I had on my list to present was Muckle Wells. So I talked about the case that I received a couple of hours before the talk.

[Lauren Bright Pacheco]

So you were basically unofficially diagnosed by a convention of rheumatologists.

[Ian Stedman]

It's amazing, right?

[Lauren Bright Pacheco]

What did Dr. Laxer say next?

[Ian Stedman]

Get yourself a referral to sick kids under Leah's name. Come with her. I need to see you.

[Lauren Bright Pacheco]

Okay, so you bring Leah to see him.

[Ian Stedman]

I actually had to go back to an adult doctor who I'd seen before and I told him I want a referral to sick kids to see Dr. Ron Laxer for this disease, Muckle Wells. And this adult rheumatologist said, that's not it. I'm not giving you that referral. People with Muckle Wells, it's a very severe Disease. I don't see people with that. That's not what you have. So I had to show him the email from Dr. Laxor saying, get in. And then he read the email and then apparently he had studied under Dr. Laxer. And so when he saw the name on the email, he stopped second guessing me.

[Dr. Ronald Laxer]

I'm a pediatrician, so it means in my hospital I really can only see patients up to the age of 18, and I have to get permission to see adults. So I had to do that. And I was pretty confident based on what Ian had written. And we're a research hospital and a teaching hospital at the Hospital for Sick Children. And so there are always trainees around and it's very important for them to see things like this. So if they see it once, they won't forget it.

[Ian Stedman]

I'm at Sick Kids Hospital. I'm 32 years old. I'm sitting on a bed in an exam room in my underwear because he's looking at me. And then all of a sudden there's a parade of rheumatologists come in to poke and prod and point and ask questions.

[Dr. Ronald Laxer]

And I asked Ian's permission if I could bring a group in. And we had about six to 10 people come in, maybe, maybe with a little bit of a turnstile sort of thing. Ian was great. He kept telling the story. It's so important to hear the story. It was a very memorable day for many of us.

[Ian Stedman]

No one's ever cared before, right? For me, in that moment, I don't care if there's 30, 40, 50 of them. They're asking me questions. I wasn't just a chronic idiopathic Steadman. Not anymore. Now there's a bunch of people who are very smart, caring to find out more and ask questions.

[Lauren Bright Pacheco]

Why do you think it's so important to hear these patient stories?

[Dr. Ronald Laxer]

I think they're much more impactful than your sterilized history, where you go through, by rote a series of questions. When you hear about the impact that it's having, I think it's much more compelling in terms of making you want to solve the problem and helping the patients and families. You hear about the significant impact on their lives and their education and how they grew up and how they may have been treated, how they look at the world. And that's not what you get in your standard history and physical. I think storytelling has become a much more important part of medicine, much more prominent role in education, getting people to tell their stories.

[Lauren Bright Pacheco]

So for 32 years, you lived your life Afraid of being seen because of the physical manifestations. And this is the first time you truly feel seen by the medical community.

[Ian Stedman]

Isn't that something? But I'm also sitting there with my daughter, right? I'm at the point now where knowledge is powerful. I want an answer, even if the answer is, here's the name of it. But we don't know what to do with it because if I don't have information, I can't figure out my next step. And I explained to him how, you know, I haven't worn shorts and T shirts in years. And one of the most vivid memories I have in my life, bar none, is him turning to me while I'm sitting there in my underwear and saying, will have you in shorts by summer. And I'll never forget. I'll never forget him saying that to me. Because as a doctor with a rare disease patient in front of you, you don't make promises. He's not saying, I know what's wrong with you. He's saying, I have a solution. Holy shit. The floor drops out, right? I'm emotional, thinking about the moment I can't relive it without reliving it fully. It just runs through me. It's one of those things.

[Lauren Bright Pacheco]

When you got your daughter's diagnosis, you knew that you had gotten it from the right person and she was in the best hands possible. Tell me about calling your mom once you had an official diagnosis.

[Ian Stedman]

I had said, we need to get you in to get tested as well. So we all have this record of getting our panels back and the confirmed Muckle Wells diagnosis. Leah first, me second, mom third. Yeah.

[Barbara Stedman]

And so I went in and I already knew that if that's what Ian had and what Leah had, then that's what I had. But they had to confirm it. And it was a relief. It was a relief to say, okay, this is what it is. But it was also, for me, a little bit of a guilt trip because I felt this is what I gave him.

[Lauren Bright Pacheco]

Once all three generations have received their diagnosis, they turn to Dr. Laxor for treatment. Is it curable and how is it treated? What's the most effective treatment?

[Dr. Ronald Laxer]

It's not curable. It's a genetic change, and so that's in your body all the time. But it is very treatable with drugs that block the proteins that result from this gene mutation, so it makes these inflammation proteins. And there are drugs now available which counteract those proteins, and they're extremely effective.

[Lauren Bright Pacheco]

So what does treatment look like as far as the delivery?

[Ian Stedman]

There's an injectable drug that plugs the protein so it just stops the body from producing the protein entirely. And the challenge here now is that it's $16,000 every injection and there is eight weeks between each injection. So $16,000 every eight weeks for this needle that effectively takes away my one in three chance of death by 36.

[Lauren Bright Pacheco]

$16,000.

[Ian Stedman]

Yeah. And that's a miracle biologic drug for sure. Yeah.

[Lauren Bright Pacheco]

For you, for your daughter and for your mother.

[Ian Stedman]

Yes. And that's the next step in our journey is how do we get access to this drug?

[Lauren Bright Pacheco]

At this time, Ian is blessed with a job that provides his family with the level of healthcare support necessary to treat them.

[Ian Stedman]

If I want to change my job, I no longer have access to the life saving medicine that I need and my daughter needs. So one of the first things that we did as a young couple was to sell the first home we ever owned together and to move back in with her parents.

[Lauren Bright Pacheco]

How did you handle that?

[Ian Stedman]

The first thing that I said to her after we figured out that we had access to this drug was we'll never be without it. Our daughter can never be without this medicine that's always going to be there in case we need it. And that was not a small decision. It's a step back in the kind of community society that I was raised in.

[Lauren Bright Pacheco]

So now you have a safety net in case of emergency, but you will need this life sustaining treatment for the rest of your lives. What are the next steps to ensure that you all have that access?

[Ian Stedman]

Under Dr. Laxor's mentorship, I ended up getting more involved in learning about health care policy and law. He started introducing me to people. There's a Canadian organization for rare disorders. And then I ended up getting involved in going to conferences and learning a little bit more about health policy in the rare disease space. So that's what we did. With Dr. Laxer's help, we petitioned my wife's employer's formulary to add the drug. It took eight months and then they said, we've added it to the formulary.

[Lauren Bright Pacheco]

Formularies are lists of approved medication that are covered because Canada does not have a universal national formulary. These lists can vary between provinces, territories and third party insurance providers.

[Ian Stedman]

So now we get to submit for reimbursement. And so the first time we submitted under her plan, they denied us. And they denied us because the science was so unsettled in this space that they said we needed to try steroids first. So we needed to pump our daughter full of steroids before they would give her this life saving medicine. And so Dr. Laxer, like I said before, just salt of the earth, incredible human. He just like Hulk. What, they want me to shove steroids in a two year old girl when the standard of care is published. He wrote them, he got their decision reversed and we started to see formularies. Now my mom's formulary had it. And then slowly over time, every major formulary in Canada has added this drug.

[Lauren Bright Pacheco]

That's amazing. And you were part of that domino effect.

[Ian Stedman]

Part of it.

[Lauren Bright Pacheco]

So tell me the impact that this miracle drug had on all three of your lives and how long did it take to see the impact?

[Ian Stedman]

So we took the medicine, we woke up the next day and it was a light switch. It was all gone the next day.

[Barbara Stedman]

The day I got my first needle was the last day I had pain, last day I had a headache, last day I had highs.

[Lauren Bright Pacheco]

What was that like?

[Barbara Stedman]

That was like the promise of a real retirement. A retirement where I'm not using a cane. I'm 76, I don't have to use a cane or anything. I run a walking group. I can be as active as I want because I don't have a headache or my eyes are too sore to go outside. It's like a life given to me that's not full of limitation.

[Lauren Bright Pacheco]

And for Leah, how has the treatment affected her life?

[Ian Stedman]

So we're very fortunate that I would say by the time we had medicine, she had just started to become self aware of the spots. But then the medicine was a week later and it was gone overnight. So she never really lived a life where she was self conscious of any of it. And that's good and bad. It's something that my wife and I talk about quite a bit. It's our job to help her experience her baseline of not being sick. But at the same time, it's part of her identity that we have to inform her about. She's going to have to navigate her adult life of access to this medicine. She can't just have any job and any employer and any life she wants. Her life does have to in some sense revolve around how to maintain access to a therapeutic that keeps her alive. That's not a small burden to put on a kid.

[Lauren Bright Pacheco]

Of course, despite that burden, this treatment works and has had a profound effect. What have you seen Leah do in her life that you perhaps struggle to do in yours?

[Ian Stedman]

She's an athlete. Her body does what she wants it to do. She's not limited by it. She's the youngest kid to ever take this medicine. So technically we don't really know the long term effects of turning off this part of your immune system. It's an immunosuppressant. This protein is part of your immune system when it's properly functioning. So we don't know the long term effects. She's been very lucky. There's not much that Leah says I want to do that she can't do.

[Lauren Bright Pacheco]

Passionate to help others outside of his family, Ian is a steering committee member for the Canadian Rare Disease Network, is the chair of the board for the Canadian Autoinflammatory Network, and is a fellow in AI Law and Ethics at the Hospital for Sick Children. He has become a formidable advocate for those like him who are living with rare diseases.

[Ian Stedman]

When I realized how much information about me was trapped in my doctor's handwritten notes, my doctor, when we were diagnosed, thought that we were number 11, 12 and 13 in Canada with Muckle Wells disease. And I asked him, how do you know that? He says, well, because I've talked to other doctors and that's my guess. It's a ballpark. But if he wanted to know how the doctor in Nova Scotia treated their patient with Muckle Wells, he'd have to get the doctor and the patient's permission. And you'd have to know that they exist first of all to share that data, to share their story, to share their medical records. It's just locked away in cabinets. And I think that's the power of telling our stories and talking and being open and engaging with patients and engaging with communities, is that we're starting to realize that there's so much more underneath the surface that we didn't see before. Let's just shine a light on it now.

[Lauren Bright Pacheco]

Are you surprised in any way, shape or form that Ian's work has now morphed into helping others in the rare condition space?

[Barbara Stedman]

No, I'm not surprised at all. Ian has, has always been a really caring person. To see him now know that he doesn't have limitations, he doesn't have a day when he doesn't want to be on camera because of red eye or eyes is wonderful because I've always seen Ian as a child with enormous potential, as a human being to do whatever he wants. When he found his answer, it just kept going. And saying I'm taking this to everybody isn't surprising at all.

[Lauren Bright Pacheco]

When you look back at your own life, do you ever feel a sense of grief for what you may have lost in those years that you went untreated for Muckle Wells?

[Barbara Stedman]

Now I think who we are is and what happens to us is who makes us who we are. I learned. Learned how to deal with pain. I learned how to be more compassionate to others because my pain was invisible. And I think it's all about moving forward. And that's what Ian did. He moved forward and found a cure for all of us. Though, no, I have no regrets.

[Lauren Bright Pacheco]

When you look back on your mom's experience with this condition, the years she spent struggling, but also the incredible feat of moving forward despite the tremendous pain and the challenges, how do you. How do you feel?

[Ian Stedman]

There was a point where I thought of my mother's efforts as not being enough. And it isn't until I've had time to reflect and to find, for lack of a better word, grace for what the experience must have been for her, that I've come to realize the power of her effort. Whatever the diagnosis has given her, I'm grateful for. But I'm even more grateful now for what she was able to give to me despite not having that diagnosis. But I also. I feel relief in the idea that maybe I was able to pay her. Jeez. To give her something in return for that, which must have been an impossible effort on her part, and the sacrifices she made to make sure that I wasn't making sacrifices.

[Lauren Bright Pacheco]

What do you hope that people take away from Ian's story and in connection to it, Leah and Barb's story, the.

[Dr. Ronald Laxer]

Power of the patient to not give up, to continue to advocate. If you're convinced about something, don't take no for an answer. When you listen to stories, it's not just as a doctor, you're listening to somebody's story as a fellow human being. And we have the same feelings. We have families, we have children. We empathize completely. I think that's one of the very important messages of this story.

[Lauren Bright Pacheco]

A story and a diagnosis that changed three generations of a family showing up in profound and profoundly simple ways.

[Ian Stedman]

After having the medicine, we went grocery shopping. The family went was spring. It was almost summer. We went grocery shopping. It was too cold. But I got home and I realized that I just went grocery shopping in shorts and a T shirt. I realized that after I got home, I hadn't thought about it. And as it sank in, as it settled in, I sent an email to Dr. Laxer and the woman who was assisting him, the nurse at the time. And I sent them an email and I said, just wanted you to know that I just went grocery shopping in shorts and a T shirt, and it's such a nothing burger. But it was so much. And to this day, like, that's one of the emails that stands out in it for him too. How. How it all came full circle, right? I'll have you in shorts. And then it just happened. And it just happened. I was comfortable enough to do it without even thinking about it.

[Lauren Bright Pacheco]

You can learn more about the Canadian Autoinflammatory Network at www.autoinflammatory.ca. sickKids CA can be found online at www. SickKids.ca.

[Ian Stedman]

My name is Ian Steadman. I live with a rare disease called Muckle well Syndrome, and I spent 32 years looking for a diagnosis before finally landing on one after my first daughter was born with the same disease.

[Lauren Bright Pacheco]

Coming up on next week's episode of Symptomatic. For as long as Sienna Dietrich can remember, she's had random bouts of heavy legs, headaches, and loss of vision. As she got older, that heavy sensation sensation grew into episodes in which she could not move altogether.

[Barbara Stedman]

I was shaking the director's hand, getting these flowers, the whole nine yards. And my smile, it became hard to smile and I realized all of my arms and legs were like, starting to feel, like, really heavy. Everybody else left the stage and I couldn't get up to leave the stage. The band director caught me out of sight of his eye and he came back and my parents came up from the audience. Why is Sienna still on the stage? My parents took me to the er. Cause they were just like, this is not normal even for you.

[Lauren Bright Pacheco]

Years would pass before Sienna would get a seemingly out of the blue phone call from her doctor that changed everything. As always, we would love to hear from you. Send us your thoughts on this episode or share a medical mystery of your own at@ symptomaticiheartmedia.com and please rate and review Symptomatic. Wherever you get your podcasts, we'll see you next time. And until then, be well. Symptomatic A Medical Mystery Podcast is a production of iHeartMedia's Ruby Studio. Our show is hosted by me, Lauren Bright Pacheco. Our executive producers are James Foster, Matt Romano, and myself. Our supervising producers are Ryan Ovadia, Haley Aliyah Erickson and Daniel Ainsworth. This episode was written by Haley Aleah Erickson and edited by Daniel Ainsworth.

[Barbara Stedman]

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[Ian Stedman]

That made me feel embarrassed.

[Lauren Bright Pacheco]

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[Barbara Stedman]

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[Lauren Bright Pacheco]

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