Episode 11 – The Lived Experience of Glanzmann Thrombasthenia

Okay, so today on today's

episode, we have Kaitlyn.

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And Kaitlyn is currently a fourth

year medical student and will

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be starting residency in July.

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She was diagnosed with Glands and Thrombo.

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Athenia at nine months old after seven and

a half months of diagnostic uncertainty.

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As one of the only patients at Sick

Kids, and indeed across all of Canada,

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battling this rare bleeding disorder,

she encountered a host of challenges

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early on frequent hospitalizations.

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The uncertainty of a rare diagnosis

and the emotional and physical toll

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of a constant medical interventions

made her childhood uniquely difficult.

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Yet these early experiences forged

an unyielding resilience in Kaitlyn.

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Her journey through a complex

healthcare landscape not only

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shaped her determination to overcome

adversity, but also inspired her

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commitment to medicine and advocacy.

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Now as an emerging physician, Kaitlyn

leverages her personal experience

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and passion for research to drive

meaningful change in patient care.

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Welcome, Caitlin.

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It's so lovely to have

you on the show today.

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Hi, Natalie.

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Thank you so much for having me.

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It's such an honor.

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Oh, it's great to have you.

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And I think this is a really wonderful

experience that you're sharing with

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our community today because I think

lots of our members will really

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appreciate your experiences and

anything that you have to offer.

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So why don't we get started with when

were you diagnosed and, and how that all,

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like that story, that diagnosis story.

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Absolutely.

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So I was diagnosed when

I was nine months old.

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When I was six weeks old, my mom started

noticing some bruising on my hands

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and I actually, I wasn't walking yet.

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I wasn't doing anything.

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I was only a six week old

baby, so this is quite unusual.

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She took me to my family physician

and they did some initial blood work.

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So looking at Von Willbrand factor

as well as INR and PTT and all of

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that actually came back normal.

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However, as I got a little bit older, so

a couple months to a few months old, I

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started getting more dark bruises around

my body and in really unusual places where

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I wouldn't be bumping myself anywhere.

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And again, I wasn't even

walking or crawling yet.

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So my family physician referred

me to specialist at sick kids.

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And at the kids, they reviewed all

of my initial testing again again for

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Von Willebrand, factor I-N-R-P-T-T.

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And they didn't think it was

actually hematological disorder

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or even a bleeding disorder.

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So I was referred again to a dermatologist

at six children and at the hospital for

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six children, and they investigated me for

some other diseases such as neuroblastoma.

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Or blueberry muffin disease.

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And what they actually did is took a

biopsy of one of the petechiae that

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I had on my leg as they thought that

this might be a cancerous lesion.

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And now knowing that I have a

bleeding disorder, of course,

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this was just a popped capillary.

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So the biopsy came back normal.

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And at this point I was referred

back to hematology again.

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And they did, they did what was

called a bleeding time test.

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This test came back as abnormal.

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And so at this point, they

knew that I likely had a

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platelet dysfunction disorder.

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And I was tested for a few of them,

Bernard sole gray platelet syndrome,

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and as well as glands spins, and the

test for glands came back positive.

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And this all of the diagno diagnosis

and all of the different tests were all

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completed when I was nine months old.

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Wow.

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That's, that's amazing that they actually

went through all of those tests rather

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than kind of what we sometimes hear as

just sending you home, because nobody

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really knows what's happening, but what

a, what an experience at nine months old.

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That's, that's a big, that's a big

journey now, with you having that

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diagnosis at such a young age, were

you then followed, like what was your

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care and treatment like after that?

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So it was a little bit interesting because

when I was nine months old, the only

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symptom I had up until that point was the

Petey eye and the bruising on my body.

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And because of the nature of

the rarity of the disease.

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Even at sick kids, there weren't

a lot of other patients that were.

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That they were following

with the disorder.

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And I believe I was one of the first

people that the doctor who diagnosed

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me actually diagnosed with Glands mins.

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So it was really unclear what the

trajectory of my disorder would be like.

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And up until I was actually about

four years old, I never really

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had any severe bleeding symptoms.

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So it was kind of uncertain as to what.

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A diagnosis of glands would mean for me.

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I was followed regularly.

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But every six months I would

have just a regular follow up.

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But at four, the age of four years

old, I started having some very

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severe nosebleeds requiring a

lot of frequent hospitalizations.

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And it was at that point when

we realized how serious glands

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could, would actually be.

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And just for clarification for anybody

listening, when you say serious

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nosebleeds, what do, what does that mean?

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Because, because we have so many

different understandings of what

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a serious nose bleed is, and

there's so many misconceptions of

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what that actually constitutes.

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So can you describe a bit more

about what does a serious nose

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bleed that would require a

hospitalization head look for you?

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Yeah, that's actually a great question.

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So a serious nosebleed for me

would be a nosebleed that would

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not, would, would just not stop.

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So I would hold pressure.

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It would often be going down my throat

and I would be swallowing a lot of

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blood and they're vomiting at the blood.

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And this would go on for, could go on

for hours and hours and hours and often

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I would get really faint and fatigued.

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I'd pass out at that 0.911

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would have to be called and I'd

be transferred to the hospital

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and even at the hospital.

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Because holding pressure

didn't often work.

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We would have to call the ENT

service to have my nose packed.

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More often than not.

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And on a few occasions as well more

than a dozen I would need red blood cell

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transfusions or platelet transfusions.

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And a nose bleed has actually

resulted in me being admitted

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to the ICU on one occasion.

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Wow.

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Wow.

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Because I feel like lots of

times those aren't talked about.

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As frequently.

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Mm-hmm.

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Or understood as, as, as well.

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And I'm not sure if I missed this,

but how old were you at the time

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that the severe nosebleed started?

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Four years old.

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Four years old.

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Wow.

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So, and this was this prior to going

to school, were you in school already?

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I was in like preschool, but

I was not in regular school.

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Yeah.

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Okay.

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So did they come up with like a

bit of a plan for the nosebleeds?

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'cause ICU that's pretty significant

when we're, when those are the

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kind of nosebleeds you're having.

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So what was the plan, the outcome of that?

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Yeah.

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So I'll start off with, I first lived

in like the suburbs of Toronto and

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actually because I needed to go to

the hospital so often and specifically

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sick kids where they knew how to treat

a child with this bleeding disorder,

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that was actually really difficult

because the ambulances were only allowed

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to take me to the regional hospital.

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So we actually had to move to Toronto

so that I could have this emergent care.

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And then at the schools that I was

at my mom was really great and she

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talked to all my teachers beforehand

when I was entering a class as well

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as the principal of the school.

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And so that everyone would know

what to do in case I had a bleed.

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And the plan was really to just call

her right away so that she could

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come and pick me up and manage.

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Manage the bleed.

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So she actually learned how

to pack my nose as well.

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And if that wasn't good enough, then

I would be taken to the hospital.

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Okay.

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Okay.

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And was there any like

prophylaxis or anything that was

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offered or anything like that?

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No, no.

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So I know there's prophylaxis for

hemophilia patients but nothing like

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that existed for glands in patients.

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Okay.

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Okay.

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Good to know.

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And was, was this like, was

your diagnosis something that

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came as a surprise to family?

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Was there other family members that had

been dealing with bleeding disorders?

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What was, how did that work?

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Yeah, so it was definitely a surprise.

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There was no one else in my

family with Lyme disorders.

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My parents are not consanguineous.

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So they did not expect anything

like a genetic disorder.

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And actually this was a big discussion

when they were deciding on whether

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or not to have another child

because they were actually tested.

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For the genetic mutation.

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And at the time when I was at that

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testing wasn't where it is today.

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And it couldn't actually detect

that they had a mutation.

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So when they were going on to have

another child, they did not actually

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know that they were carriers and they

thought I was a spontaneous mutation.

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But we know now that that's not true,

as my brother also has the disorder.

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Okay.

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Okay.

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Okay.

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So that it's just two of you,

yourself and your brother.

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Yeah.

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Okay.

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So how did, how did this sort

of play out for you as you got a

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little bit older, like in terms of

teenage years and things like that?

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How did that play out?

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I'll start with my like, older childhood

years, I guess, because I think that's

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where it was the hardest for me.

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I missed out on a lot of sports and

a lot of activities that my peers

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were engaging in because it was too

dangerous for me to participate.

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A lot of the times like skiing

snowboarding, like contact sports, things

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like that, I was often sitting on the

sidelines and just watching my friends.

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By my teenage years I had gotten more

used to this and just knowing that I

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couldn't participate in a lot of things.

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There was one event in particular that I.

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Sort of stand out stands out to me

is when I was planning on going on

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one of my class overnight trips and

I actually had to miss that due due

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to a spontaneous nosebleed as well.

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And those kinds of things were very

upsetting for me as I was anticipating

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trying to do something really fun

with my friends, something that was

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supposed to be safe, but I just.

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I had to miss it because of something

spontaneous I couldn't control.

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And I think it was really the fact

that I couldn't control a lot of this,

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that really was more upsetting for me.

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And yeah, but, so by the time I got

to my teenagers as well, I was a

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little bit more used to the fact that

I'd had to adapt to certain things.

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Some, something else in particular

was when I was nine, I had a knee

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bleed, so he orthosis in my knee.

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And this is not really

expected or common from glands.

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Mens, you usually see it

with hemophilia patients.

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And this, because it wasn't expected

I like, I just didn't really.

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Know what to do.

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I never thought that this would happen

to me where I would need to be on

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crutches for six months, be going

to the hospital three times a week

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for factor replacement therapy as

well as engaging in physiotherapy.

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Whereas for patients who are

diagnosed with hemophilia or

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severe one Willebrands, this is

something that's counseled early on.

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And so I had to miss a lot

of school because of that.

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But through this experience actually,

and something that I also, I wanted

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to mention is I was able to find

a passion for swimming and I.

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Even while I was not able to walk I

actually tried out for a competitive

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swim team because I was still able

to swim and I ended up becoming a

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competitive swimmer for 10 years.

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So by the time I made it

to my teenage years in high

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school, I was already swimming.

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I'd already found a community and

friends through my swim team and such.

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So I, I think that by the time I

reached that point in my life, I

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was a little bit better adjusted to

living with the bleeding disorder.

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And what a great.

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Sort of success in adapting and finding

that community that you were less

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likely to miss out on different things

that were happening, and that would be

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less, maybe risky for your situation

and having to worry about different

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bleeds and different spontaneous bleeds.

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So that's a really neat story around

adapting to that and finding your way.

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Did you and I, I don't know if

you're comfortable with this and if

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not, that's okay, but did you have

any difficulties with menstruation?

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Yeah.

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Sure, I'll talk about that for a bit.

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So leading up to monarchy we knew

that this might be an issue and the

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plan, we would, we'd always talked

about the plan with my hematologist

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and I was seeing a gynecologist as

well, just in order to plan for that.

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And we knew that I would always be on

birth control starting when it happened.

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The issue was we didn't know how serious

my first period would be when I had it.

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So that was always something

that was like looming.

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Kind of just in the back of everyone's

minds, but I was really lucky

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that once I had my first period, I

started on birth control right away.

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And the only issues I really had

were trying to, like a few years

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into taking my first birth control

pill, I started have some break,

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having some breakthrough bleeding.

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And I had to switch the pill that I was on

and, I've actually been on that pillow for

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about 10 years now, so I'm really grateful

that I haven't had too many issues there.

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But I know that a lot of other

women do, and I'm really, I'm just

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really lucky and really fortunate.

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Right.

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So for you, the birth control pill

was a success in terms of helping

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manage that aspect of bleeding.

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Yeah.

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And you're right, it doesn't always work.

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There are lots of, lots of

people who don't tolerate the

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birth control pill very well.

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But in this case, for you, that

that was, for those that can

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tolerate, that can be a really

useful solution to at least managing

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that aspect of the bleeding, right?

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Mm-hmm.

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Any other experiences while

you were on this journey?

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I really liked the swimming because it,

it's, it's such a great example of how to.

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But what the, what the potential

ways of finding your way and, and

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kind of feeling a little bit more,

especially during the teenage years

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of how to not feel so outside of it

and be sitting on the sidelines and

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not be a part of some of those things.

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But any other experiences that you

can think of that you'd like to

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share that were either positive or

not as positive in terms of your

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experience of this bleeding disorder?

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Yeah.

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So.

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Oh, I guess I'll talk a little bit about

when I worked at Sick Kids I had the

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opportunity to work in the hematology

department actually and do some research

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there during the summers between undergrad

and during one of the summers actually,

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there was a patient there who was

newly diagnosed with Glanton thrombus.

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And it was really rewarding for me

to be able to meet the family share

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a lot about my journey and give

them some kind of hope and just.

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See, you know, talk to the parents

and have them be able to see

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like, look like Glands, men's is

not like a life ending disorder.

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I'm here and I've grown up

with it, and now look, I'm even

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like working at the hospital.

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And so it was really nice to be able to

give them some sort of hope and such.

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But then coming to medical school.

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It was a little bit difficult for me

to be seeing we to be seeing a lot

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of the patients inside the hospital

directly, if that makes sense.

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And a lot of it reminded me of

my time in the hospital and that

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was something that I had to work

through in order to be able to.

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Go to work and not sort of think

about my own experiences as a patient,

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but be able to fully provide for

my own patients without letting

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that emotional aspect interfere

with the care I was res providing.

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That's really interesting

how you highlight that.

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That was almost triggering for you.

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Mm-hmm.

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Right.

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I think that's a really great share in

the sense that just because maybe, you

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know, you grow up and you adapt and

you do all these things, it doesn't

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mean that some of those triggers of

those experiences don't still exist.

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Mm-hmm.

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So I, I think that's a really interesting.

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Share to make because I do think that

many of us are drawn to our careers

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based on many of our experiences.

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I have VWD and I'm drawn to

be part of this community and

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work inside of this community.

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But I, I think that it's a really good

point that you make that sometimes you

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have to, you re end up revisiting some

of your own experiences in being a

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part of the community in some fashion.

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So it can be triggering and

it can be almost a period of

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growth to overcome some of that.

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So that's a really interesting

perspective that I hadn't thought of.

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And I appreciate you sharing that.

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If you, and, and now, how, as at this

stage, are your symptoms the same?

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Have they shifted?

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How is, how is the bleeding

disorder picture for you

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at this stage of your life?

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Yeah.

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So this stage of my life, I'm

really grateful that my really

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severe nosebleeds have, almo

have basic, pretty much stopped.

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I do still sometimes get nosebleeds

that won't stop with just pressure,

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but I have learned to manage them.

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I am really lucky I've access

to surgicel and gelfoam, which

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I used to pack my own nose.

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And so if I have a nosebleed that

I can't stop with just pressure.

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I can quickly just pack my nose and it's,

it, it, it does stop thankfully within

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you know, 10 to 20 minutes of the packing.

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And in terms of other symptoms, I haven't

experienced a joint bleed since I was

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nine, so I'm really grateful for that.

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As I mentioned, I don't really

have issues with my periods.

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Mm-hmm.

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And so I'm really in like a nice spot

where I still bruise really easily.

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Still get the occasional nosebleeds,

but I sometimes can even forget

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that I have a bleeding disorder.

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I'm able to do almost

everything that anyone else can.

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And I've even started like doing

things that I, my parents and nobody

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else probably ever thought I would

like, I learning to surf and things

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like that, which can have some risks.

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But as an adult, I know the risks

now, and I also know how to treat

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myself when things do happen.

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And so.

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I'm really grateful that it doesn't

really affect my day-to-day life anymore.

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Wonderful.

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And it's also very hopeful and a

reminder that a bleeding picture at

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one stage isn't necessarily the same

bleeding picture at a different stage.

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Right, exactly.

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Yeah.

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So it's really good to sort of be reminded

of that and packing your own notes,

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did, who taught you how to do that?

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So when I was like a child and my

and like always in and outta the

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hospital due to the nosebleeds, the

ENTs taught my mom how to do it.

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And I think just from being the

one, getting like my nose packed

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all the time, I just picked up

what they were doing and just the

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experience of it taught me how to.

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My own nose, I guess.

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I wasn't really formally taught,

but just having it done like

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hundreds and hundreds of times.

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Right.

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Will teach you.

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Yeah.

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Yeah.

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You picked up on how it works

after a number of times, I'm sure.

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Yeah.

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So, Caitlin, in terms of your

experiences, and for those

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that may have same diagnosis.

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Is there anything that you would

want others to know who might

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share your diagnosis or even a

bleeding disorder in general?

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Is there anything that you would want to

share or have them know or any, anything

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you would want to share with that?

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I think one of the points you

mentioned was really great.

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Bleeding picture at one point may not look

like a bleeding picture in the future.

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And so that was the case with myself.

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It might not be the case for others,

but it's important to stay hopeful.

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But another really important thing that

I think everyone with a bleeding disorder

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or even a rare disease should know, is

that you are the expert on your disorder.

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Oftentimes you'll be the only

one if presenting in an emergent

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situation that knows about your

diagnosis and how to manage it.

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And it's really important to

educate yourself and to learn

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how to advocate for yourself.

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There were a lot of times

where I was in the hospital.

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I had doctors and nurses who had never

come across my disorder, even ENTs

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who were looking to pack my nose.

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And there's certain different packings and

management strategies that may work for

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one bleeding disorder or one presentation

but not someone with glands, mens.

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And so I'm really grateful my mom was

able to advocate for me when I was a kid

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and prevented a lot of adverse outcomes.

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And now.

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I do the same for myself, and I

think that's really important for

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anyone with a rare disorder to know.

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Thanks for that.

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I think those are really important

points and I'm wondering as a

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follow up, that advocacy piece

is so important, but it's hard.

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It's hard to do that

because for many folks.

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We go in assuming doctors know exactly

what's going on, and many of us learn

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very quickly with a bleeding disorder

that that's not always the case.

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Do you have any suggestions on how

to develop those advocacy skills?

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Yeah.

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I think the first one would be reading

up as much as you can about the disorder,

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trying to educate yourself asking

questions every time you're at a doctor's

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visit if you're uncertain about something.

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And not, not only helps you answer

your own questions, but challenges

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your healthcare providers as

well to be able to answer them.

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I think another thing that's really

nice about the world we live in today is

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that there's lots of online communities.

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And even different organizations

that weren't available when I was a

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kid to be able to connect with other

patients with the same disorder.

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And so I've actually there's actually

like the Glanton Research Foundation now,

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which I've been a part of their community.

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And there's a lot of people

sharing information, different

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information there on treatments

and asking questions and such.

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The only thing is I would just

caution that a lot of these a lot of

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the patients who are part of these

groups are from different countries

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worldwide, and management avail

availability for certain kinds of

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management that are available in Canada.

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Are not available there and vice versa.

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So it's always really important to

do your own research and talk to your

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doctors and work with the doctors and

your multidisciplinary care team as a

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team to decide what would be best for

you with the treatment options available.

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That's a great point and I, I think

it's a really neat reminder again of

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all the communities that are out there,

but also with the just disclaimer of,

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you know, you really have to check

in with your, your healthcare team.

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And the other thing that comes to mind

is you had such advantages being in a

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multidisciplinary clinic that was able to.

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Anticipate, for example, monarchy

coming up and was able to really, you

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could see a gynecologist, you could see

your hematologist, and just a, maybe

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a reminder to anybody listening that.

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If you are not in a multidisciplinary

clinic, it doesn't mean you can't be.

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So you can actually ask for a

referral to a nearby multidisciplinary

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clinic if that is something that

you feel would be beneficial to you.

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It's a bit of a, it

can be a bit of a trek.

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It's not always close.

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As you said.

431

You actually ended up moving to be closer.

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Right.

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But if, if somebody is.

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Invested and wants to

take the time to do that.

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It is something that they can do.

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I, I don't know that everyone knows

that they can actually ask to be

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referred to a multidisciplinary clinic.

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I think sometimes the assumption

is, well, this is where I've

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got, this is all I've got.

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That's what I've gotta do.

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But it is actually something that

you can request if you feel that

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that would be beneficial to you.

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So thank you so much for all

of this information and just

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sharing your experiences.

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I really think that this will be

such a value add to our folks in

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the community and being able to have

another voice and their experience

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and what they did shared out there.

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So I really, really appreciate

you joining me today.

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I know how busy you are with your.

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Being a medical student.

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So it was super, super

wonderful that you joined today.

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Is there anything else you wanted

to add before we say goodbye?

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Well thank you so much for having me.

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I love that we're able to create this

community and especially on Hero X

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with, for women with bleeding disorders,

and I'm looking forward to seeing

456

what else hero X does in the future

and being a part of that as well.

457

Oh, thanks so much.

458

Wonderful.

459

Thanks so much Caitlin.

460

We really appreciate you being here.

461

Thank you for having me.