Speaker 1: Ruby.
Speaker 2: There was one day my eyes were so flared I
Speaker 2: couldn't see. And I remember on that day wondering, where
Speaker 2: is this going?
Speaker 3: What is this?
Speaker 2: Is this getting worse?
Speaker 1: It looks exactly like what we have. And I looked
Speaker 1: at e in it and we just nodded. We knew,
Speaker 1: we knew if she had it.
Speaker 4: It's not curable. It's a genetic change. And so that's
Speaker 4: in your body all the time.
Speaker 2: One in three people untreated just don't wake up. Everyone
Speaker 2: has their cross to bear. This is my this is
Speaker 2: my burden. And now I've got a kid.
Speaker 3: How terrifying would it be to fight an unknown enemy
Speaker 3: one you didn't recognize and didn't see coming. What if
Speaker 3: that enemy was coming from within a disease that even
Speaker 3: doctors couldn't identify. Nearly half American suffer from some chronic illness,
Speaker 3: and many struggle for an accurate diagnosis. These are their stories.
Speaker 3: I'm Lauren Bright Pacheco and this is symptomatic.
Speaker 2: I am from a regular, old household family. I have
Speaker 2: one older brother, two parents, born just outside of Toronto, Ontario.
Speaker 3: That's Ian Steadman. He is a lawyer, professor, and father
Speaker 3: of three. Ian is a thoughtful measured speaker, extremely friendly
Speaker 3: and quick with a joke.
Speaker 2: Grew up like a normal suburban kid in a growing community,
Speaker 2: went to primary school in a French immersion, and was
Speaker 2: raised around all boys playing sports at all times.
Speaker 3: I'm going to wager hockey was involved.
Speaker 2: Hockey yep, definitely, Baseball, five pin bowling was one of
Speaker 2: the things that was big back then. My youth was
Speaker 2: spent at school and sports.
Speaker 3: Really, so, for somebody who has not had the pleasure
Speaker 3: of meeting Ian, how would you describe him?
Speaker 1: Very intellectual? He can be intense, but wickedly funny and
Speaker 1: really dedicated to his family and to making a difference
Speaker 1: in the world.
Speaker 3: That's Ian's mom, Barb. Barb suffered most of her life
Speaker 3: from debilitating headaches, extreme joint pain, and unexplained rashes. When
Speaker 3: Ian was born, it was clear to Barb that he
Speaker 3: too was afflicted by whatever it was that was causing
Speaker 3: her own symptoms. What is your earliest memory of thinking
Speaker 3: he might have more in common with you in terms
Speaker 3: of your health challenges. Do you remember seeing a symptom
Speaker 3: and thinking this is familiar.
Speaker 1: When he was only a few months old, we had
Speaker 1: a family cottage and we would go there and I'd
Speaker 1: put him under the big shade tree, but he would
Speaker 1: come in with red blotches all over his body, and
Speaker 1: I thought, I can't put him out there. It must
Speaker 1: be the sun. But then even if I had him inside,
Speaker 1: he would still get the red blotches, so I knew
Speaker 1: that was the same as I had got and he
Speaker 1: was only a few months old.
Speaker 3: Your mother also navigated health challenges of her own. Tell
Speaker 3: me your earliest childhood memories of realizing that your mother
Speaker 3: was living with a health condition and how did that
Speaker 3: manifest itself.
Speaker 2: My mother had all the same symptoms. Some of them
Speaker 2: will flare and others will not. For her, she got
Speaker 2: really bad migraine headaches, and that would be where Mum
Speaker 2: was in the bedroom with the lights out, and you
Speaker 2: just leave her alone for a day until she resurfaces.
Speaker 2: Everything else, when her skin had blotches or her eyes
Speaker 2: were red or arthritis, she powered through. My brother never
Speaker 2: had the symptoms, obviously, my father never did. And I
Speaker 2: ended up with the headaches.
Speaker 3: And when did the headache start?
Speaker 2: When I was in middle school, right grade six, seven eight,
Speaker 2: things really started to have an impact on my day
Speaker 2: to day where I would be at school and I'd
Speaker 2: have to go off to the principal's office to find
Speaker 2: a dark room because I had a headache.
Speaker 3: Barb hoped that Ian would be spared from the escalation
Speaker 3: of symptoms she knew so well.
Speaker 1: I think you just worry. You worry about how bad
Speaker 1: it won't get for him. My hives didn't really get
Speaker 1: bad until I was in my twenties, and so his
Speaker 1: didn't turn up all the time time, which may be
Speaker 1: very relieved. But then as he got to be a teenager,
Speaker 1: they turned up almost daily, and that really worried me.
Speaker 3: As Ian got older, he grew more self conscious about
Speaker 3: hiding his skin covered in rashes that he did not
Speaker 3: know how to explain.
Speaker 2: Kids show up to hockey they could change in the
Speaker 2: dressing room. I didn't. I showed up to hockey covered
Speaker 2: right long sleeved shirt, long underwear, never removed them. I
Speaker 2: would be very careful not to have more skin exposed
Speaker 2: than necessary so that I didn't have to have people
Speaker 2: looking at me and noticing the difference. Got to a
Speaker 2: point where I just wouldn't wear t shirts or shorts
Speaker 2: anymore because I didn't want it. Presents as though you
Speaker 2: have a disease of some sort or you're reacting to something.
Speaker 3: This rash, read well defined and raised from the skin
Speaker 3: was not the only symptom growing more intense for Ian
Speaker 3: as he went through puberty and started becoming a teenager.
Speaker 3: Now you're going to doctors at the time, So were
Speaker 3: you feeling any other symptoms in terms of pain or.
Speaker 2: Aches constantly bloodshot eyes that I couldn't get rid of
Speaker 2: the skin rash. I actually now have twenty percent hearing
Speaker 2: loss in one of my ears arthritis, so I would
Speaker 2: have joint swelling. It wasn't debilitating most of the time.
Speaker 2: It was like the ball of my big toe or
Speaker 2: my heel or a wrist that got in the way
Speaker 2: of sports. As I went into adolescence as well as
Speaker 2: the body was growing, What kind.
Speaker 3: Of explanations are you getting in your early adolescence in
Speaker 3: teenage years for what's going on?
Speaker 2: The explanation was always basically the scientific way of thing.
Speaker 2: I don't know, So chronic idiopathic urticaria was the description
Speaker 2: that I got of my skin, which is, I don't know,
Speaker 2: arthritis is arthritis, So you just take an anti inflammatory
Speaker 2: or a painkiller and that sent you on your way.
Speaker 2: They had no idea how to treat that headaches that
Speaker 2: they don't know what to do with those, And then
Speaker 2: the eyes was the tough one because I would jump
Speaker 2: around from optomologist optomologists trying to figure that out. I
Speaker 2: was just taking visin over the counter of izing to
Speaker 2: take the retiness out whenever I could, but no one
Speaker 2: had any explanation.
Speaker 3: Really, every household has a doctor mom. How did your
Speaker 3: mom help you treat those and how did she help
Speaker 3: you navigate the emotional toll of something that she shared too.
Speaker 2: I think the biggest thing that she did was to
Speaker 2: insulate me from the social If there was a day
Speaker 2: where I wasn't feeling up for normal, everyday childhood things,
Speaker 2: it wasn't made a big deal. It wasn't like I
Speaker 2: was letting my family down for not being able to
Speaker 2: go to this sport or this activity, or being able
Speaker 2: to go to school today. She was always there to
Speaker 2: backstop that and to never make me feel like I
Speaker 2: like my decision to not do something was a problem,
Speaker 2: To never make me feel like I was letting anyone
Speaker 2: down by being sick.
Speaker 3: Did that bond you on some levels? And how did
Speaker 3: that impact the way you mothered him?
Speaker 1: Yeah, there's a connection because we both had we understood
Speaker 1: how the other failed. If Ian said he had a headache,
Speaker 1: I knew he had a headache. I didn't have any
Speaker 1: doubts about it. When Ian always needed a jacket to
Speaker 1: match his outfit, he got it because I knew it
Speaker 1: wasn't to match his outfit, it was to cover the hives.
Speaker 1: You have an awareness of how you have to care
Speaker 1: for him.
Speaker 3: With his mother's guidance, Ian made it through high school
Speaker 3: and went off to college to study law, carrying with
Speaker 3: him the tools he learned to manage his symptoms.
Speaker 2: When I went away to university in the year two thousand,
Speaker 2: I had learned how to deal with it, and so
Speaker 2: I stopped worrying about it. I did what my mom
Speaker 2: had taught me to do. Right If there was a
Speaker 2: tough day where it was just too much, I just
Speaker 2: didn't go. I would stay home. I did almost no
Speaker 2: extracurriculars when I was away at university. I don't think
Speaker 2: it progressed per se, but I do think it became
Speaker 2: my burden. My mom couldn't shelter me from it, or
Speaker 2: protect me from it, or buffer me from it. It
Speaker 2: had to be me figuring out how to manage that.
Speaker 2: I'd have flares. I'd go to bed covered in hives.
Speaker 2: Wake up, I'd go to exams with my hat low
Speaker 2: and sunglasses on, my arms covered up in the middle
Speaker 2: of summer. There was a whole bunch of ways in
Speaker 2: which the normalcy of life was interrupted by a flare.
Speaker 3: How did you manage academically while dealing with all of that?
Speaker 2: I think the academics were actually an escape from real life.
Speaker 2: I mean, I stayed in post secondary for fourteen years.
Speaker 2: It's easier to do that than to show up at
Speaker 2: work every day. It's easier to sit in front of
Speaker 2: your desk and read something and write an essay than
Speaker 2: to show up and to have to be physically present
Speaker 2: when you don't know what you're dealing with on a
Speaker 2: day to day basis.
Speaker 3: Are you still pushing though for a medical explanation at
Speaker 3: this point?
Speaker 2: Great question. During my second or third year of university,
Speaker 2: there were a couple of weeks where I thought, oh,
Speaker 2: I'm in London. Now I'm not in Toronto, Let's go
Speaker 2: see what the doctor's hearsay. I ended up with the
Speaker 2: same answers from everyone.
Speaker 3: What would those answers have been? How were they offered,
Speaker 3: and did you feel dismissed.
Speaker 2: It's not like they didn't meet me and run the
Speaker 2: tests and try to figure it out. But nobody was
Speaker 2: piecing together anything. It was looking at arthritis and saying, well,
Speaker 2: this is how we treat arthritis. Take an ad bill.
Speaker 2: It was looking at a headache and saying, we'll take
Speaker 2: a tile on all. Here are some eyedrops. It was
Speaker 2: the same thing. And because I didn't look like I
Speaker 2: was dying, it wasn't important to figure it out. It
Speaker 2: was here you go, get on. So I did give up.
Speaker 2: At the point when I went to join the workforce,
Speaker 2: I had totally given up on searching for answers. I
Speaker 2: figured the answer is I just got to navigate this.
Speaker 2: I've got to find a way to make it work.
Speaker 2: Because everyone has their cross to bear. This is mine,
Speaker 2: this is my burden.
Speaker 3: Doctor Ronald Laxer says this experience is common for patients
Speaker 3: who can't be diagnosed quickly or with a common condition
Speaker 3: that is instantly recognizable.
Speaker 4: Patients will see their family doctor, they're pediatrician. There then
Speaker 4: be referred to skin doctors or eye doctors and they
Speaker 4: go through their general differential or an approach to disorders
Speaker 4: in those systems, and it doesn't fit the usual suspects,
Speaker 4: and so they'll often say, well, you don't have all
Speaker 4: the things I know about, so sorry, I think you'll
Speaker 4: have to live with it. And I think that's what
Speaker 4: happened with Ian quite a bit.
Speaker 3: Ian was told on multiple occasions that his symptoms were
Speaker 3: not connected. Is that common that a doctor might not
Speaker 3: see there is a link?
Speaker 4: Yeah, I think that's the case. Kind of like the
Speaker 4: blind man and the elephant, and everybody sees a different
Speaker 4: part and calls it a trunk or a tail or
Speaker 4: a limb. So I have to find somebody maybe who
Speaker 4: knows about these things or is working in that area,
Speaker 4: rather than saying I did everything I can, I'm really sorry,
Speaker 4: I can't figure this out. And also patients get incredibly
Speaker 4: frustrated too, So it's very impactful on the quality of life.
Speaker 4: But the hives by themselves or the eye inflammation by
Speaker 4: itself isn't going to I don't want to be pejorative,
Speaker 4: but it isn't going to kill you. So everybody gets
Speaker 4: fed up and they kind of stop looking. This is
Speaker 4: what it is. I'm going to have to get used.
Speaker 3: To this, and that is what Ian does. He moves forward,
Speaker 3: carrying with him what he believes is his burden alone,
Speaker 3: and goes on to fulfill his childhood dream of becoming
Speaker 3: a lawyer working in private practice and then moving on
Speaker 3: to the office of the Integrity Commissioner in the Legislative
Speaker 3: Assembly of Ontario. Although he is succeeding in his career,
Speaker 3: Ian symptoms continuously interrupt his ability to function. He is
Speaker 3: often forced to ask coworkers to cover for him in
Speaker 3: meetings because he can't even open his eyes from the
Speaker 3: swelling or is self conscious about the redness. He's even
Speaker 3: been forced to work out a system with his boss
Speaker 3: in which he hides in her office and closes all
Speaker 3: the blinds to ride out one of his horrific sneak
Speaker 3: attack headaches. He feels that the disease has forced him
Speaker 3: to the sidelines more than once in his career and
Speaker 3: in his social life, including dating. Serendipitously, Ian reconnects with
Speaker 3: an old friend from high school, Amy, and they fall
Speaker 3: in love were.
Speaker 2: Married in two thousand and nine. The family didn't start
Speaker 2: until twenty twelve. We were of that generation where we
Speaker 2: spent a year or two trying to figure out how
Speaker 2: to make a family, and then when it did happen,
Speaker 2: our first little girl, now thirteen, was born in twenty twelve.
Speaker 2: It's when she joined.
Speaker 3: Us, beautiful. What is her name?
Speaker 2: Her name is Leah.
Speaker 3: Yeah. What do you remember about the day Leah was born?
Speaker 2: I remember very vividly being at the hospital and when
Speaker 2: Leah was born what should have been the most joyful
Speaker 2: experience of just life when we saw her happy, crying, tears, excitement,
Speaker 2: But I saw it. I knew what it was. Immediate
Speaker 2: anxiety came in in a moment that should have been
Speaker 2: all pure joy and excitement. I saw her skin. It
Speaker 2: looked like what I had. She was born basically with
Speaker 2: red blotches on her skin. But it's interesting, right because
Speaker 2: when a baby is born and you turn to the
Speaker 2: doctor and say what's wrong with her skin? They say,
Speaker 2: babies are born with they have spots on their skin.
Speaker 2: It'll go away. But that doctor doesn't know my story
Speaker 2: and my mom's story, our history, doesn't know what I
Speaker 2: see when I look in the mirror, doesn't know the
Speaker 2: anxiety that I experience every day getting up trying to
Speaker 2: figure out what do I got to do today to
Speaker 2: navigate my symptoms. That's exact same thing that I think
Speaker 2: when I look at her being handed to her mother
Speaker 2: as she's born, is oh shit, is she going to
Speaker 2: have to live the same life? Did me giving up
Speaker 2: on looking for answers just doom this one to the
Speaker 2: same existence.
Speaker 3: Ian is not alone in this fhere. Barb also recognizes
Speaker 3: the familiar rash.
Speaker 1: Immediately, my first thought was, of course, it's exactly what
Speaker 1: Ian and I have. She had the rash. I just
Speaker 1: looked at Ian and we just nodded. We knew, we
Speaker 1: knew she had it.
Speaker 2: This wasn't just my burden. Something was going on here.
Speaker 3: Ian takes paternity leave to spend more time with Leah
Speaker 3: while she grows. Though her first months are full of joy,
Speaker 3: love and excitement, this lingering fear of what is to
Speaker 3: come for her is ever present in Ian's mind.
Speaker 2: It was in the three months that I took pat leeve,
Speaker 2: you know, everything was the same. We had the kid
Speaker 2: with the spots.
Speaker 1: That was it.
Speaker 2: It was just the spots. She starts walking, I want
Speaker 2: to say, like eleven or nine and a half, ten months,
Speaker 2: like it was right in there really early, probably because
Speaker 2: she had so many people helping her first born, the
Speaker 2: whole family's around right. There was a period just before
Speaker 2: one year where she reverted to crawling.
Speaker 1: She stopped walking because as far as Ian could tell,
Speaker 1: her hip hurt, she had joint pain.
Speaker 2: As she couldn't walk, something was happening. And that was
Speaker 2: before she was verbal. She can't explain what she's experiencing
Speaker 2: or going on. And she wasn't crying, but she just
Speaker 2: wasn't walking anymore. That was the day the deep feeling
Speaker 2: of failure set in, but turned into a motivation, which
Speaker 2: was it's not good enough for me to not have
Speaker 2: answers anymore.
Speaker 1: More than the hide that motivated him at that point.
Speaker 1: It was like nothing stopping me until I figure this out.
Speaker 1: He was that good have his oatter go through the
Speaker 1: same thing.
Speaker 3: I can't imagine that mix of emotion and ultimately guilt
Speaker 3: and not wanting your daughter to suffer those bouts of
Speaker 3: shame and insecurity and pain that you had to endure.
Speaker 2: I think you hit the nail on the head with guilt.
Speaker 2: It's a feeling like immediately you failed as a parent.
Speaker 2: The second feeling you have is I failed them. They
Speaker 2: don't know it yet, but I failed them because I
Speaker 2: didn't figure this out first. Wow, and that doesn't leave
Speaker 2: you like that. Still to this day, that's one of
Speaker 2: the motivating animating feelings in my life is a perpetual
Speaker 2: fear of continuing to fail your child. At this point,
Speaker 2: I've got a master's in philosophy, which is a research
Speaker 2: master's a law degree. It wasn't until I had ten
Speaker 2: years of post secondary research skills where I had the
Speaker 2: gumption to think that I could contribute to the pursuit
Speaker 2: of finding an answer. My wife worked at the University
Speaker 2: of Toronto at the time, and so we had access
Speaker 2: to the library, and so I spent every evening reading
Speaker 2: medical journals about hives and rashs.
Speaker 1: He was so determined to figure out what it was.
Speaker 1: There were times when we come over and he would
Speaker 1: be on the strangest diet because he wanted to know
Speaker 1: for it was food, and I thought, who could eat
Speaker 1: crawl eggs? Who was doing anything? He read to find
Speaker 1: out what was wrong?
Speaker 3: So you become a medical detective.
Speaker 2: I tried. I couldn't read a medical journal for the
Speaker 2: life of me. The words that we use in science
Speaker 2: are much too large for Ian Stedman. So I was
Speaker 2: reading dermatology papers, looking at pictures. Nothing you know where
Speaker 2: I ended up ended up on Google Search. I searched
Speaker 2: skin rash, and then I scrolled Google Images. This is
Speaker 2: pre AIDA's right, So you can't just take a picture
Speaker 2: of my own skin, throw it on chatchypt and say
Speaker 2: find this.
Speaker 3: No.
Speaker 2: Ian had to scroll, So I scrolled and scrolled and
Speaker 2: scrolled and scrolled. The kid goes to bed at eight o'clock.
Speaker 2: Wife goes to bed at ten o'clock. I set up
Speaker 2: until two o'clock, just scrolling and scrolling and scrolling. I
Speaker 2: found one picture and Google Images that looked like me.
Speaker 3: We'll be right back with Symptomatic, a medical mystery podcast.
Speaker 3: Now back to Symptomatic, a medical mystery podcast. After months
Speaker 3: of scrolling and multiple generations of lived symptoms in his family,
Speaker 3: Ian finds a single paragraph in a sea of millions
Speaker 3: that stops him in his tracks. Take me to that
Speaker 3: exact moment.
Speaker 2: Uh, you know it, it's you know exactly what it is.
Speaker 2: I know my rash. I know what this is. I
Speaker 2: saw it, I clicked it, and then it took me
Speaker 2: to a man's blog who is German? So it was
Speaker 2: written in German, so you quickly learned German. Yeah, I
Speaker 2: have an image, but I have a trail, right, and
Speaker 2: so I could start figuring it out. And so what
Speaker 2: I could read on the page that was English enough
Speaker 2: for me to figure out was three words muckle Wells syndrome.
Speaker 3: In rome. Muckle Wells syndrome, a condition that at the
Speaker 3: time was so rare that it was only cited to
Speaker 3: affect one in one million people.
Speaker 2: That was my next clue. That's the bread crumb. And
Speaker 2: so I started googling muckle Wells and I find out
Speaker 2: there's a couple of different symptoms of muckle Wells. Right,
Speaker 2: there's these red eyes, these chronic red eyes. There's these
Speaker 2: the skin hives. Obviously it's an inflammatory disease, so the arthritis.
Speaker 2: There's headaches. Okay, Now I can go back to those
Speaker 2: medical journals and what's in there about muchle Wells, and
Speaker 2: I find a paper that pieces together my medical history.
Speaker 1: I kind of hoped that he found something, because if
Speaker 1: you have a name for something and you know what
Speaker 1: it is, it's easier to handle it, no matter how
Speaker 1: devastating it is. It's easier because you know what you're
Speaker 1: dealing with. Israel as he described them to me, and
Speaker 1: I'm going, yeah, yep, that too. All of this is together.
Speaker 1: I couldn't believe it. All kinds of things that I
Speaker 1: didn't realize. We're all together, and so wes he said it.
Speaker 1: It suddenly made sense.
Speaker 3: It clicked. The more Ian learned about the prognosis of
Speaker 3: untreated muchael Wells, the more he understood how significant his
Speaker 3: discovery was.
Speaker 2: But one of the things I learned was if you're
Speaker 2: not treated, the protein that causes the inflammation actually causes
Speaker 2: emiloidosis in one third of Mucklewell's patients by the age
Speaker 2: of thirty six, and emiloidosis is kidney failure. It's just
Speaker 2: not waking up because the protein has shut down a
Speaker 2: vital organ. So one in three people untreated with Mucklewlls
Speaker 2: just don't wake up. My mom's over thirty six, so
Speaker 2: she seems to have bucked the trend. I'm running up
Speaker 2: against it, and now I've got a kid, so there's
Speaker 2: three of us. I may have avoided death because my
Speaker 2: daughter was born sick. If it wasn't for Leah being sick,
Speaker 2: I may be the one in three.
Speaker 3: How do you explain or define Mucklewell's syndrome.
Speaker 4: Muckelwell syndrome is part of a group of disorders which
Speaker 4: are genetic in origin, and they're associated with a mutation
Speaker 4: and a specific gene. That gene is helpful in helping
Speaker 4: us interact with our environment, and it protects us from
Speaker 4: infections and from foreign chemicals. When that gene activates, it
Speaker 4: brings several molecules together which allow our defense systems to
Speaker 4: fight off invading organisms or chemicals which are about to
Speaker 4: disturb the body. Now, changes in that gene may lead
Speaker 4: to spontaneous activation of those proteins, and they may kick
Speaker 4: off an inflammatory cascade that leads to all the signs
Speaker 4: and symptoms of fighting off an infection. But there's nothing there.
Speaker 3: Ready with a name. Finally, Ian must figure out his
Speaker 3: next steps. So, armed with that information, how do you
Speaker 3: go about getting a proper diagnosis?
Speaker 2: Now I'm a researcher. Now I'm a lawyer. As a lawyer,
Speaker 2: your job isn't to know the law. It's to know
Speaker 2: how to find the answers to legal questions. How to
Speaker 2: identify the question and then find the answer. So I
Speaker 2: know what the question is? Now, what is Muckael Wells?
Speaker 2: So I've found some answers in the medical journals. What's
Speaker 2: the next question? Who in Canada knows about muckle Wells.
Speaker 2: So I'm googling doctor Canada auto inflammatory and what I
Speaker 2: find is two doctors, one at Sick Kids and one
Speaker 2: formerly at Sick Kids now in Calgary.
Speaker 3: Enter doctor Ronald Laxer from earlier. Doctor Laxer is one
Speaker 3: of the foremost rheumatologists in Canada. Rheumatologists specialize in conditions
Speaker 3: affecting the joints, muscles, bones, and connective tissue. Doctor Laxer
Speaker 3: is internationally recognized in the field of auto inflammatory disease
Speaker 3: and was an inaugural division head at Sick Kids. This
Speaker 3: is the moment in Ian's story where their paths cross
Speaker 3: and life changes for his family forever.
Speaker 4: I just happened to be in the right place at
Speaker 4: the right time for him, and I have been doing
Speaker 4: this clinic. It's called auto inflammatory Clinic, and I'm very
Speaker 4: interested in these diseases and making the diagnoses and getting
Speaker 4: drugs to patience.
Speaker 2: I kind of cold email this talk to her in
Speaker 2: the middle of nowhere, and you can imagine like this
Speaker 2: is a blur because from the day that I found
Speaker 2: the picture to the email to the doctor, like it's
Speaker 2: within seventy two hours. I'm just spinning, but I send
Speaker 2: him this email. His name is doctor Ron lax Or.
Speaker 2: He's a very senior, very respected roeumatologist at Sick Kids.
Speaker 2: With this description, with the pictures, with my daughter's story.
Speaker 2: I wake up the next day at eight am. I
Speaker 2: have a response in my inbox. This is the first
Speaker 2: time I've ever spoken to a medical professional and felt
Speaker 2: like they listened and understood something and believed me. Was
Speaker 2: him replying and saying, I think you're onto something.
Speaker 3: What Ian did not know at the time was that
Speaker 3: doctor Laxer received this email while getting ready to present
Speaker 3: to a room full of leading rheumatologists.
Speaker 4: I was at a conference in Denmark and I was
Speaker 4: presenting a whole bunch of different cases, challenging cases to
Speaker 4: the audience and just to see what they think it is,
Speaker 4: what kind of tests they would do. And one of
Speaker 4: them that I had on my list to present was
Speaker 4: Michael Wells. So I talked about the case that I
Speaker 4: received a couple of hours before the talk.
Speaker 3: So you were basically unofficially diagnosed by a convention of rheumatologists.
Speaker 2: It's amazing, right.
Speaker 3: What did doctor Laxer say next?
Speaker 2: Get yourself a referral to Sick kids under Leah's name,
Speaker 2: come with her.
Speaker 3: I need to see you, okay, so you bring Leah
Speaker 3: to see him.
Speaker 2: I actually had to go back to an adult doctor
Speaker 2: who I'd seen before, and I told him, I want
Speaker 2: to referral to sick kids to see doctor Ron Laxer
Speaker 2: for this disease, Michael Wells. And this adult rheumatologist said,
Speaker 2: that's not it. I'm not giving you that referral people
Speaker 2: with muckle Wells. It's a very severe disease. I don't
Speaker 2: see people with that. That's not what you have. So
Speaker 2: I had to show him the email from doctor Laxer
Speaker 2: saying get in, and then he read the email and
Speaker 2: then apparently he had studied under doctor Laxer, and so
Speaker 2: when he saw the name on the email, he stopped
Speaker 2: second guessing me.
Speaker 4: I'm a pediatrician, so it means in my hospital, I
Speaker 4: really can only see patients up to the age of eighteen,
Speaker 4: and I have to get permission to see adults. So
Speaker 4: I had to do that, and I was pretty confident
Speaker 4: based on what Ian had written. And we're a research
Speaker 4: hospital and a teaching hospital at the hospital for six children,
Speaker 4: and so there are always trainees around and it's very
Speaker 4: important for them to see things like this, so if
Speaker 4: they see it once, they won't forget it.
Speaker 2: I'm at the Sick Kid's Hospital. I'm thirty two years old.
Speaker 2: I'm sitting on a bed in an exam room in
Speaker 2: my underwear because he's looking at me. And then all
Speaker 2: of a sudden, there's a parade of rheumatologists come in
Speaker 2: to Pope kin prod and point and ask questions.
Speaker 4: And I asked aame's permission if I could bring a
Speaker 4: group in, and we had about six to ten people
Speaker 4: come in. Maybe maybe it was a little bit of
Speaker 4: a turnstile sort of thing. Ian was great. He kept
Speaker 4: telling the story. Is so important to hear the story.
Speaker 4: It was a very memorable day for many of us.
Speaker 2: No one's ever cared before. Right for me in that moment,
Speaker 2: I don't care if there's thirty forty to fifty of them.
Speaker 2: They're asking me questions. I wasn't just this chronic idiopathic sedment.
Speaker 2: Not anymore. Now there's a bunch of people who are
Speaker 2: very smart, caring to find out more and ask questions.
Speaker 3: Why do you think it's so important to hear these
Speaker 3: patient stories.
Speaker 4: I think they're much more impactful than your sterilized history
Speaker 4: where you go through through by wrote a series of questions.
Speaker 4: When you hear about the impact that it's having, it,
Speaker 4: I think it's much more compelling in terms of making
Speaker 4: you want to solve the problem and helping the patients
Speaker 4: and families. You hear about the significant impact on their
Speaker 4: lives and their education and how they grew up and
Speaker 4: how they may have been treated, how they look at
Speaker 4: the world, And that's not what you get in your
Speaker 4: standard history and physical I think storytelling has become a
Speaker 4: much more important part of medicine, much more prominent role
Speaker 4: in education, getting people to tell their stories.
Speaker 3: So for thirty two years, you lived your life afraid
Speaker 3: of being seen because of the physical manifestations, and this
Speaker 3: is the first time you truly feel seen by the
Speaker 3: medical community.
Speaker 2: Isn't that something? But I'm also sitting there with my
Speaker 2: daughter right I'm at the point now where knowledge is power.
Speaker 2: I want an answer, even if the answer is here's
Speaker 2: the name of it, but we don't know what to
Speaker 2: do with it. Because if I don't have information, I
Speaker 2: can't figure out my next step. And I explain to him,
Speaker 2: how you know, I haven't worn shorts and t shirts
Speaker 2: and years, and one of the most vivid memories I
Speaker 2: have in my life bar none, is him turning to
Speaker 2: me while I'm sitting there in my underwear and saying,
Speaker 2: we'll have you in shorts by summer. And I'll never forget.
Speaker 2: I'll never forget him saying that to me, because as
Speaker 2: a doctor with a rare disease patient in front of you,
Speaker 2: you don't make promises. He's not saying I know what's
Speaker 2: wrong with you. He's saying, I have a solution.
Speaker 1: Holy shit.
Speaker 2: The floor drops out right. I'm emotional thinking about the moment.
Speaker 2: I can't relive it without reliving it fully. It just
Speaker 2: runs through me those things.
Speaker 3: When you got your daughter's diagnosis, you knew that you
Speaker 3: had gotten it from the right person and she was
Speaker 3: in the best hands possible. Tell me about calling your
Speaker 3: mom once you had an official diagnosis.
Speaker 2: I had said, we need to get you in to
Speaker 2: get tested as well. So we all have we all
Speaker 2: have this record of getting our panels back and the
Speaker 2: confirmed Michael Wells diagnosis. Leah first, me, second month, third.
Speaker 1: And so I went in and I already knew that
Speaker 1: if that's what I had had and what Leah had
Speaker 1: and that's what I had, but they had to confirm
Speaker 1: it and it was a relief. It was a relief
Speaker 1: to say, Okay, this is what it is. But it
Speaker 1: was also for me a little bit of a guilt
Speaker 1: trip because I felt this is what.
Speaker 3: I gave them. Once all three generations have received their diagnosis,
Speaker 3: they turned to doctor Laxer for treatment. Is it curable
Speaker 3: and how is it treated? What's the most effective treatment.
Speaker 4: It's not curable. It's a genetic change and so that's
Speaker 4: in your body all the time. But it is very
Speaker 4: treatable with drugs that block the proteins that result from
Speaker 4: this gene mutation. So it makes these inflammation proteins, and
Speaker 4: there are drugs now available which counteract those proteins and
Speaker 4: they're extremely effective.
Speaker 3: So what does treatment look like as far as the delivery.
Speaker 2: There's an injectable drug that plugs the protein, so just
Speaker 2: stops the body from producing the protein entirely. And the
Speaker 2: challenge here now is that it's sixteen thousand dollars every injection,
Speaker 2: and there is eight weeks between each injection, so sixteen
Speaker 2: thousand dollars every eight weeks for this needle that effectively
Speaker 2: takes away my one in three chances of death by thirty.
Speaker 3: Six teen thousand dollars.
Speaker 2: Yeah, and that's a miracle biologic drug for sure.
Speaker 3: Yeah, for you, for your daughter, and for your mother.
Speaker 2: Yes, and that that's the next step in our journey
Speaker 2: is how do we get access to this drug?
Speaker 3: At this time, Ian is blessed with a job that
Speaker 3: provides his family with the level of health care support
Speaker 3: necessary to treat them.
Speaker 2: If I want to change my job, I no longer
Speaker 2: have access to the life saving medicine that I need
Speaker 2: and my daughter needs. So one of the first things
Speaker 2: that we did as a young couple was to sell
Speaker 2: the first home we ever owned together and to move
Speaker 2: back in with her parents.
Speaker 3: How did you handle that?
Speaker 2: The first thing that I said to her after we
Speaker 2: figured out that we had access to this drug was
Speaker 2: We'll never be without it. Our daughter can never be
Speaker 2: without this medicine. That's always going to be there in
Speaker 2: case we need it. And that was not a small decision.
Speaker 2: It's a step back in the kind of community society
Speaker 2: that I was raised in.
Speaker 3: So now you have a safety net in case of emergency,
Speaker 3: but you will need this life sustaining treatment for the
Speaker 3: rest of your lives. What are the next steps to
Speaker 3: ensure that you all have that access.
Speaker 2: Under doctor Laxer's mentorship, I ended up getting more involved
Speaker 2: in learning about health care policy and law. He started
Speaker 2: introducing me to people there's a Canadian organization for rare disorders,
Speaker 2: and then I ended up getting involved in going to
Speaker 2: conferences and learning a little bit more about health policy
Speaker 2: in the rare disease space. So that's what we did
Speaker 2: with doctor at Laxer's help. We petitioned my wife's employer's
Speaker 2: formulary to add the drug. It took eight months and
Speaker 2: then they said we've added it to the formulary.
Speaker 3: Formularies are lists of approved medication that are covered. Because
Speaker 3: Canada does not have a universal national formulary, these lists
Speaker 3: can vary between provinces, territories, and third party insurance providers.
Speaker 2: So now we get to submit for reimbursement. And so
Speaker 2: the first time we submitted under her plan, they denied us.
Speaker 2: And they denied us because the science was so unsettled
Speaker 2: in this space that they said we needed to try
Speaker 2: steroids first, So we needed to pump our daughter full
Speaker 2: of steroids before they would give her this life saving medicine.
Speaker 2: And so doctor laxer, like I said before, just salt
Speaker 2: of the earth. Incredible human he just like Hulk. What
Speaker 2: they want me to shove? Steroids and a two year
Speaker 2: old girl? When the standard of care is published, he
Speaker 2: wrote them. He got their decision reversed and we started
Speaker 2: to see formularies. Now my mum's formularity had it. And
Speaker 2: then slowly over time, every major formulary in Canada has
Speaker 2: added this drug.
Speaker 3: That's amazing and you were part of that domino effect
Speaker 3: part of it. So tell me the impact that this
Speaker 3: miracle drug had on all three of your lives and
Speaker 3: how long did it take to see the impact.
Speaker 2: So we took the medicine. We woke up the next
Speaker 2: day and it was a light switch. It was all
Speaker 2: gone the next day.
Speaker 1: The day I got my first needle was a last
Speaker 1: day I had pain. Last day I had a headache,
Speaker 1: last day I had hives.
Speaker 3: What was that like?
Speaker 1: That was like the promise of a real retirement, that
Speaker 1: retirement where I'm not using a cane. I'm seventy six,
Speaker 1: I don't have to use a cane or anything. I
Speaker 1: run a walking group. I can be as active as
Speaker 1: I want because I don't have a headache and my
Speaker 1: eyes are too sorry to go outside. It's like a
Speaker 1: life given to me that's not full of limitation.
Speaker 3: And for Leah, how has the treatment affected her life?
Speaker 2: So we're very fortunate that, I would say by the
Speaker 2: time we hadn't met, she had just started to become
Speaker 2: self aware of the spots. But then the medicine was
Speaker 2: a week later and it was gone overnight. So she
Speaker 2: never really lived a life where she was self conscious
Speaker 2: of any of it. And that's good and bad. It's
Speaker 2: something that my wife and I talk about quite a bit.
Speaker 2: It's our job to help her experience her baseline of
Speaker 2: not being sick right, but at the same time, it's
Speaker 2: part of her identity that we have to inform her about.
Speaker 2: She's going to have to navigate her adult life of
Speaker 2: access to this medicine. She can't just have any job
Speaker 2: and any employer and any life she wants. Her life
Speaker 2: does have to in some sense revolve around how to
Speaker 2: maintain access to a therapeutic that keeps her alive. That's
Speaker 2: not a small burden to put on a kid.
Speaker 3: Of course, despite that burden, this treatment works and has
Speaker 3: had a profound effect. What have you seen Leah do
Speaker 3: in her life? Life that you perhaps struggle to do
Speaker 3: in yours.
Speaker 2: She's an athlete, she's her body does what she wants
Speaker 2: it to do. She's not limited by it. She's the
Speaker 2: youngest kid to ever take this medicine. So technically we
Speaker 2: don't really know the long term effects of turning off
Speaker 2: this part of your immune system. It's an immunosuppressant. This
Speaker 2: protein is part of your immune system when it's properly functioning,
Speaker 2: so we don't know the long term effects. She's been
Speaker 2: very lucky. There's not much that Leah says I want
Speaker 2: to do that she can't do.
Speaker 3: Passionate to help others outside of his family. Ian is
Speaker 3: a steering committee member for the Canadian Rare Disease Network,
Speaker 3: is the chair of the board for the Canadian Auto
Speaker 3: Inflammatory Network, and is a fellow in AI law and
Speaker 3: ethics at the Hospital for Sick Children. He has become
Speaker 3: a formidable advocate for those like him who are living
Speaker 3: with rare diseases.
Speaker 2: When I realized how much information about me was trapped
Speaker 2: in my doctor's handwritten notes, Mike doctor when we were diagnosed,
Speaker 2: thought that we were number eleven, twelve and thirteen in Canada.
Speaker 2: With Michael Wells disease, And I asked him, how do
Speaker 2: you know that? He says, well, because I've talked to
Speaker 2: other doctors, and that's my guest. It's a ballpark. But
Speaker 2: if he wanted to know how the doctor in Nova
Speaker 2: Scotia treated their patient with Michael Wells, he'd have to
Speaker 2: get the doctor and the patient's permission, And you'd have
Speaker 2: to know that they exist first of all, to share
Speaker 2: that data, to share their story, to share their medical records.
Speaker 2: It's just locked away in cabinets. And I think that's
Speaker 2: the power of telling our stories and talking and being
Speaker 2: open and engaging with patients and engaging with communities, is
Speaker 2: that we're starting to realize that there's so much more
Speaker 2: underneath the surface that we didn't see before. Let's just
Speaker 2: shine a light on it. Now.
Speaker 3: Are you surprised in any way, shape or form that
Speaker 3: Ian's work has now morphed into helping others in the
Speaker 3: rare condition space.
Speaker 1: No, I'm not surprised at all. Ian has has always
Speaker 1: been a really caring person. To see him now know
Speaker 1: that he doesn't have limitations. He doesn't have a day
Speaker 1: when he doesn't want to be on camera because verd
Speaker 1: eye or hive is wonderful because I've always seen Ian
Speaker 1: as a child with enormous potential as a human being
Speaker 1: to do whatever he wants. When he found his answer,
Speaker 1: just kept going and saying, I'm taking this to everybody.
Speaker 1: This isn't surprising at all.
Speaker 3: When you look back at your own life, do you
Speaker 3: ever feel a sense of grief for what you may
Speaker 3: have lost in those years that you went untreated for
Speaker 3: muckle Wells?
Speaker 5: No.
Speaker 1: I think who we are and what happens to us,
Speaker 1: this one who makes us who we are. I learned
Speaker 1: learned how to deal with pain. I learned how to
Speaker 1: be more compassionate to others because my pain wasn't it's
Speaker 1: all And I think it's all about moving forward. And
Speaker 1: that's what he did. He moved forward and found a
Speaker 1: cure for all of us. Though, No, I have no regrets.
Speaker 3: When you look back on your mom's experience with this condition,
Speaker 3: the years she's spent struggling, but also the incredible feat
Speaker 3: of moving forward despite the tremendous pain and the challenges,
Speaker 3: how do you feel.
Speaker 2: There was a point where I thought of my mother's
Speaker 2: efforts as not being enough, And it isn't until I've
Speaker 2: had time to reflect and to find, for lack of
Speaker 2: a better word, grace for what the experience must have
Speaker 2: been for her. That I've come to realize the power
Speaker 2: of her effort. Whatever the diagnosis has given her, I'm
Speaker 2: grateful for, But I'm even more grateful now for what
Speaker 2: she was able to give to me despite not having
Speaker 2: that diagnosis.
Speaker 3: But I also I.
Speaker 2: Feel relief in the idea that maybe I was able
Speaker 2: to pay your jeez, to give her something in return
Speaker 2: for that which must have been an impossible effort on
Speaker 2: her part in the sacrifices she made to make sure
Speaker 2: that I wasn't making sacrifices.
Speaker 3: What do you hope that people take away from Ian's
Speaker 3: story and in connection to it, Leah and barb story.
Speaker 4: The power of the patient to not give up, to
Speaker 4: continue to advocate if you're convinced about something, don't take
Speaker 4: no for an answer. When you listen to stories, it's
Speaker 4: not just as adopters. You're listening to some story as
Speaker 4: a fellow human being. And we have the same feelings,
Speaker 4: We have families, we have children, we empathize completely. I
Speaker 4: think that's one of the very important messages of this story.
Speaker 3: A story and a diagnosis that changed three generations of
Speaker 3: a family showing up in profound and profoundly simple ways.
Speaker 2: After having the medicine, we went grocery shopping. The family
Speaker 2: went it. It was spring, it was almost summer. We
Speaker 2: went grocery shopping. It was too cold. But I got
Speaker 2: home and I realized that I just went grocery shopping
Speaker 2: and shorts and a T shirt. I realized that after
Speaker 2: I got home, I hadn't thought about it. And as
Speaker 2: it sank in, as it settled in, I sent an
Speaker 2: email to doctor Laxer and the woman who was assisting him,
Speaker 2: the nurse at the time, and I sent them an
Speaker 2: email and I said, I just wanted you to know
Speaker 2: that I just went grocery shopping and shorts and a
Speaker 2: T shirt. And it's such a nothing burger, but it
Speaker 2: so much And to this day, like that's one of
Speaker 2: the emails that stands out for him too. How how
Speaker 2: it all came full circle. I'll have you in shorts
Speaker 2: and then it just happened, And it just happened. I
Speaker 2: was comfortable enough to do it without even thinking about it.
Speaker 3: You can learn more about the Canadian auto inflammatory network
Speaker 3: at www. Dot auto inflammatory dot CA, Sick KIDCA can
Speaker 3: be found online at www dot sick KIDSCA.
Speaker 2: My name is Ian Stedman. I live with a rare
Speaker 2: disease called Michael Well syndrome, and I spent thirty two
Speaker 2: years looking for a diagnosis before finally landing on one
Speaker 2: after my first daughter was born with the same disease.
Speaker 3: Coming up on next week's episode of Symptomatic. For as
Speaker 3: long as Sienna Dtree can remember, she's had random bouts
Speaker 3: of heavy legs, headaches, and loss of vision. As she
Speaker 3: got older, that heavy sensation grew into episodes in which
Speaker 3: she could not move altogether.
Speaker 5: I was shaking the director's hand, getting these flowers the
Speaker 5: whole nine yards, and my smile it became hard to smile,
Speaker 5: and I realized all of my arms and legs were
Speaker 5: like starting to feel like really heavy. Everybody else left
Speaker 5: the stage, and I couldn't get up to leave the stage.
Speaker 5: The band director caught me out side of his eye,
Speaker 5: and he came back, and my parents came up from
Speaker 5: the audience while Sienna is still on the stage. My
Speaker 5: parents took me to the er because they were just like,
Speaker 5: this is not normal, even for you.
Speaker 3: Years would pass before Sienna would get a seemingly out
Speaker 3: of the blue phone call from her doctor that changed everything.
Speaker 3: As always, we would love to hear from you. Send
Speaker 3: us your thoughts on this episode, or share a medical
Speaker 3: mystery of your own at Symptomatic at iHeartMedia dot com
Speaker 3: and please rate and review Symptomatic wherever you get your podcasts.
Speaker 3: We'll see you next time, and until then, be well. Symptomatic,
Speaker 3: a medical mystery podcast, is a production of iHeartMedia's Ruby Studio.
Speaker 3: Our show is hosted by me Lauren Bright Pacheco. Our
Speaker 3: executive producers are James Foster, Matt Ramano, and myself. Our
Speaker 3: supervising producers are Ryan Ovadia, Haley Aliah Ericsson, and Daniel Ainsworth.
Speaker 3: This episode was written by Haley Aliah Ericsson and edited
Speaker 3: by Daniel Ainsworth.