Ruby.

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?

It looks exactly like what we have.

And I looked at e in it and we just nodded.

We knew, we knew if she had it.

It's not curable.

It's a genetic change.

And so that's in your body all the time.

One in three people untreated just don't wake up.

Everyone has their cross to bear.

This is my this is my burden.

And now I've got a kid.

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 American 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.

I am from a regular, old household family.

I have one older brother, two parents, born just outside of Toronto, Ontario.

That's Ian Steadman.

He is a lawyer, professor, and father of three.

Ian is a thoughtful measured speaker, extremely friendly and quick with a joke.

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.

I'm going to wager hockey was involved.

Hockey yep, definitely, Baseball, five pin bowling was one of the things that was big back then.

My youth was spent at school and sports.

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

Very intellectual?

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

That's Ian's mom, Barb.

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.

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.

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.

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 Mum 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.

And when did the headache start?

When I was in middle school, right grade six, seven eight, 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.

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

I think you just worry.

You worry about how bad it won't get for him.

My hives didn't really get bad until I was in my twenties, and so his didn't turn up all the time time, which may be very relieved.

But then as he got to be a teenager, they turned up almost daily, and that really worried me.

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

Kids show up to hockey they could change in the dressing room.

I didn't.

I showed up to hockey covered right long sleeved 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.

This rash, read 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 constantly bloodshot eyes that I couldn't get rid of the skin rash.

I actually now have twenty percent 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, What kind.

Of explanations are you getting in your early adolescence in teenage years for what's going on?

The explanation was always basically the scientific way of thing.

I don't know, So chronic idiopathic urticaria was the 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 sent you on your way.

They had no idea how to treat that headaches that they don't know what to do with those, And then the eyes was the tough one because I would jump around from optomologist optomologists trying to figure that out.

I was just taking visin over the counter of izing to take the retiness out whenever I could, but no one had any explanation.

Really, 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.

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.

Did that bond you on some levels?

And how did that impact the way you mothered him?

Yeah, there's a connection because we both had we understood how the other failed.

If 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.

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.

When I went away to university in the year two thousand, 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, 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.

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

I think the academics were actually an escape from real life.

I mean, I stayed in post secondary for fourteen 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.

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

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 doctor's hearsay.

I ended up with the same answers from everyone.

What would those answers have been?

How were they offered, and did you feel dismissed.

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 ad bill.

It was looking at a headache and saying, we'll take a tile on all.

Here are some eyedrops.

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 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.

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

Patients will see their family doctor, they're pediatrician.

There 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.

Ian was told on multiple occasions that his symptoms were not connected.

Is that common that a doctor might not see there is a link?

Yeah, 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 it 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, 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 symptoms continuously interrupt his ability to function.

He is often forced to ask coworkers 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 were.

Married in two thousand and nine.

The family didn't start until twenty twelve.

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 thirteen, was born in twenty twelve.

It's when she joined.

Us, beautiful.

What is her name?

Her name is Leah.

Yeah.

What do you remember about the day Leah was born?

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 her 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 got to do today to navigate my symptoms.

That's 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.

Ian is not alone in this fhere.

Barb also recognizes the familiar rash.

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.

This wasn't just my burden.

Something was going on here.

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.

It was in the three months that I took pat leeve, you know, everything was the same.

We had the kid with the spots.

That was it.

It was just the spots.

She starts walking, I want to say, like eleven or nine and a half, ten months, like it was right in there really early, probably because she had so many people helping her first born, the whole family's around right.

There was a period just before one year where she reverted to crawling.

She stopped walking because as far as Ian could tell, her hip hurt, she had joint pain.

As she couldn't walk, 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.

More than the hide that motivated him at that point.

It was like nothing stopping me until I figure this out.

He was that good have his oatter go through the same thing.

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

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.

Wow, and that doesn't leave you like that.

Still to this day, that's one of the motivating animating feelings in my life is a 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 ten 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 rashs.

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 for it was food, and I thought, who could eat crawl eggs?

Who was doing anything?

He read to find out what was wrong?

So you become a medical detective.

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 ended up on Google Search.

I searched skin rash, and then I scrolled Google Images.

This is pre AIDA's right, So you can't just take a picture of my own skin, throw it on chatchypt and say find this.

No.

Ian had to scroll, So I scrolled and scrolled and scrolled and scrolled.

The kid goes to bed at eight o'clock.

Wife goes to bed at ten o'clock.

I set up until two o'clock, just scrolling and scrolling and scrolling.

I found one picture and Google Images that looked like me.

We'll be right back with Symptomatic, a medical mystery podcast.

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.

Uh, you know it, 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, so you quickly learned German.

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.

In rome.

Muckle Wells syndrome, a condition that at the time was so rare that it was only cited to affect one in one million people.

That was my next clue.

That's the bread crumb.

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 the arthritis.

There's headaches.

Okay, Now I can go back to those medical journals and what's in there about muchle Wells, and I find a paper that pieces together my medical history.

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.

Israel as he described them to me, and I'm going, yeah, yep, that too.

All of this is together.

I couldn't believe it.

All kinds of things that I didn't realize.

We're all together, and so wes he said it.

It suddenly made sense.

It clicked.

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

But one of the things I learned was if you're not treated, the protein that causes the inflammation actually causes emiloidosis in one third of Mucklewell's patients by the age of thirty six, and emiloidosis 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 Mucklewlls just don't wake up.

My mom's over thirty six, 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.

How do you explain or define Mucklewell's syndrome.

Muckelwell syndrome is part of a group of disorders which are genetic in origin, and they're associated with a mutation and 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.

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?

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 Muckael Wells?

So I've found some answers in the medical journals.

What's the next question?

Who in Canada knows about muckle Wells.

So I'm googling doctor Canada auto inflammatory and what I find is two doctors, one at Sick Kids and one formerly at Sick Kids now in Calgary.

Enter doctor Ronald Laxer from earlier.

Doctor Laxer is one of the foremost rheumatologists in Canada.

Rheumatologists specialize in conditions affecting the joints, muscles, bones, and connective tissue.

Doctor Laxer is internationally recognized in the field of auto inflammatory disease and was an inaugural division head at Sick Kids.

This is the moment in Ian's story where their paths cross and life changes for his family forever.

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 auto inflammatory Clinic, and I'm very interested in these diseases and making the diagnoses and getting drugs to patience.

I kind of cold email this talk to her 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 seventy two hours.

I'm just spinning, but I send him this email.

His name is doctor Ron lax Or.

He's a very senior, very respected roeumatologist at Sick Kids.

With this description, with the pictures, with my daughter's story.

I wake up the next day at eight am.

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 and saying, I think you're onto something.

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

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 tests they would do.

And one of them that I had on my list to present was Michael Wells.

So I talked about the case that I received a couple of hours before the talk.

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

It's amazing, right.

What did doctor Laxer say next?

Get yourself a referral to Sick kids under Leah's name, come with her.

I need to see you, okay, so you bring Leah to see him.

I actually had to go back to an adult doctor who I'd seen before, and I told him, I want to referral to sick kids to see doctor Ron Laxer for this disease, Michael 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 doctor Laxer saying get in, and then he read the email and then apparently he had studied under doctor Laxer, and so when he saw the name on the email, he stopped second guessing me.

I'm a pediatrician, so it means in my hospital, I really can only see patients up to the age of eighteen, 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 six 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.

I'm at the Sick Kid's Hospital.

I'm thirty two 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 Pope kin prod and point and ask questions.

And I asked aame's permission if I could bring a group in, and we had about six to ten people come in.

Maybe maybe it was a little bit of a turnstile sort of thing.

Ian was great.

He kept telling the story.

Is so important to hear the story.

It was a very memorable day for many of us.

No one's ever cared before.

Right for me in that moment, I don't care if there's thirty forty to fifty of them.

They're asking me questions.

I wasn't just this chronic idiopathic sedment.

Not anymore.

Now there's a bunch of people who are very smart, caring to find out more and ask questions.

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

I think they're much more impactful than your sterilized history where you go through through by wrote a series of questions.

When you hear about the impact that it's having, it, 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.

So for thirty two 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.

Isn't that something?

But I'm also sitting there with my daughter right I'm at the point now where knowledge is power.

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 explain to him, how you know, I haven't worn shorts and t shirts and 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, we'll 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 those things.

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.

I had said, we need to get you in to get tested as well.

So we all have we all have this record of getting our panels back and the confirmed Michael Wells diagnosis.

Leah first, me, second month, third.

And so I went in and I already knew that if that's what I had had and what Leah had and 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 them.

Once all three generations have received their diagnosis, they turned to doctor Laxer for treatment.

Is it curable and how is it treated?

What's the most effective treatment.

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.

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

There's an injectable drug that plugs the protein, so just stops the body from producing the protein entirely.

And the challenge here now is that it's sixteen thousand dollars every injection, and there is eight weeks between each injection, so sixteen thousand dollars every eight weeks for this needle that effectively takes away my one in three chances of death by thirty.

Six teen thousand dollars.

Yeah, and that's a miracle biologic drug for sure.

Yeah, for you, for your daughter, and for your mother.

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

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

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.

How did you handle that?

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.

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.

Under doctor Laxer'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 doctor at 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.

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.

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 doctor laxer, like I said before, just salt of the earth.

Incredible human he just like Hulk.

What they want me to shove?

Steroids and 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 mum's formularity had it.

And then slowly over time, every major formulary in Canada has added this drug.

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

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.

So we took the medicine.

We woke up the next day and it was a light switch.

It was all gone the next day.

The day I got my first needle was a last day I had pain.

Last day I had a headache, last day I had hives.

What was that like?

That was like the promise of a real retirement, that retirement where I'm not using a cane.

I'm seventy six, 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 and my eyes are too sorry to go outside.

It's like a life given to me that's not full of limitation.

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

So we're very fortunate that, I would say by the time we hadn't met, 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 right, 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.

Of course, despite that burden, this treatment works and has had a profound effect.

What have you seen Leah do in her life?

Life that you perhaps struggle to do in yours.

She's an athlete, she's 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.

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 Auto Inflammatory 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.

When I realized how much information about me was trapped in my doctor's handwritten notes, Mike doctor when we were diagnosed, thought that we were number eleven, twelve and thirteen in Canada.

With Michael 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 guest.

It's a ballpark.

But if he wanted to know how the doctor in Nova Scotia treated their patient with Michael 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.

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

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 verd eye or hive 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, just kept going and saying, I'm taking this to everybody.

This isn't surprising at all.

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?

No.

I think who we are and what happens to us, this one 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 wasn't it's all And I think it's all about moving forward.

And that's what he did.

He moved forward and found a cure for all of us.

Though, No, I have no regrets.

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

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 your jeez, to give her something in return for that which must have been an impossible effort on her part in the sacrifices she made to make sure that I wasn't making sacrifices.

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

The 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 adopters.

You're listening to some 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.

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

After having the medicine, we went grocery shopping.

The family went it.

It 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 and 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 doctor Laxer and the woman who was assisting him, the nurse at the time, and I sent them an email and I said, I just wanted you to know that I just went grocery shopping and shorts and a T shirt.

And it's such a nothing burger, but it so much And to this day, like that's one of the emails that stands out for him too.

How how it all came full circle.

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.

You can learn more about the Canadian auto inflammatory network at www.

Dot auto inflammatory dot CA, Sick KIDCA can be found online at www dot sick KIDSCA.

My name is Ian Stedman.

I live with a rare disease called Michael Well syndrome, and I spent thirty two years looking for a diagnosis before finally landing on one after my first daughter was born with the same disease.

Coming up on next week's episode of Symptomatic.

For as long as Sienna Dtree can remember, she's had random bouts of heavy legs, headaches, and loss of vision.

As she got older, that heavy sensation grew into episodes in which she could not move altogether.

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 side of his eye, and he came back, and my parents came up from the audience while Sienna is still on the stage.

My parents took me to the er because they were just like, this is not normal, even for you.

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 Symptomatic at iHeartMedia dot 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 Ramano, and myself.

Our supervising producers are Ryan Ovadia, Haley Aliah Ericsson, and Daniel Ainsworth.

This episode was written by Haley Aliah Ericsson and edited by Daniel Ainsworth.