On this episode, we talk with Caitlyn who is diagnosed with Glanzmann Thrombasthenia. Caitlyn shares her experiences living with Glanzmann Thrombasthenia while also currently attending school as a fourth-year medical student.

Okay, so today on today's

episode, we have Kaitlyn.

2

And Kaitlyn is currently a fourth

year medical student and will

3

be starting residency in July.

4

She was diagnosed with Glands and Thrombo.

5

Athenia at nine months old after seven and

a half months of diagnostic uncertainty.

6

As one of the only patients at Sick

Kids, and indeed across all of Canada,

7

battling this rare bleeding disorder,

she encountered a host of challenges

8

early on frequent hospitalizations.

9

The uncertainty of a rare diagnosis

and the emotional and physical toll

10

of a constant medical interventions

made her childhood uniquely difficult.

11

Yet these early experiences forged

an unyielding resilience in Kaitlyn.

12

Her journey through a complex

healthcare landscape not only

13

shaped her determination to overcome

adversity, but also inspired her

14

commitment to medicine and advocacy.

15

Now as an emerging physician, Kaitlyn

leverages her personal experience

16

and passion for research to drive

meaningful change in patient care.

17

Welcome, Caitlin.

18

It's so lovely to have

you on the show today.

19

Hi, Natalie.

20

Thank you so much for having me.

21

It's such an honor.

22

Oh, it's great to have you.

23

And I think this is a really wonderful

experience that you're sharing with

24

our community today because I think

lots of our members will really

25

appreciate your experiences and

anything that you have to offer.

26

So why don't we get started with when

were you diagnosed and, and how that all,

27

like that story, that diagnosis story.

28

Absolutely.

29

So I was diagnosed when

I was nine months old.

30

When I was six weeks old, my mom started

noticing some bruising on my hands

31

and I actually, I wasn't walking yet.

32

I wasn't doing anything.

33

I was only a six week old

baby, so this is quite unusual.

34

She took me to my family physician

and they did some initial blood work.

35

So looking at Von Willbrand factor

as well as INR and PTT and all of

36

that actually came back normal.

37

However, as I got a little bit older, so

a couple months to a few months old, I

38

started getting more dark bruises around

my body and in really unusual places where

39

I wouldn't be bumping myself anywhere.

40

And again, I wasn't even

walking or crawling yet.

41

So my family physician referred

me to specialist at sick kids.

42

And at the kids, they reviewed all

of my initial testing again again for

43

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

44

And they didn't think it was

actually hematological disorder

45

or even a bleeding disorder.

46

So I was referred again to a dermatologist

at six children and at the hospital for

47

six children, and they investigated me for

some other diseases such as neuroblastoma.

48

Or blueberry muffin disease.

49

And what they actually did is took a

biopsy of one of the petechiae that

50

I had on my leg as they thought that

this might be a cancerous lesion.

51

And now knowing that I have a

bleeding disorder, of course,

52

this was just a popped capillary.

53

So the biopsy came back normal.

54

And at this point I was referred

back to hematology again.

55

And they did, they did what was

called a bleeding time test.

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This test came back as abnormal.

57

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,

60

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

62

completed when I was nine months old.

63

Wow.

64

That's, that's amazing that they actually

went through all of those tests rather

65

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.

67

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

journey now, with you having that

68

diagnosis at such a young age, were

you then followed, like what was your

69

care and treatment like after that?

70

So it was a little bit interesting because

when I was nine months old, the only

71

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.

74

That they were following

with the disorder.

75

And I believe I was one of the first

people that the doctor who diagnosed

76

me actually diagnosed with Glands mins.

77

So it was really unclear what the

trajectory of my disorder would be like.

78

And up until I was actually about

four years old, I never really

79

had any severe bleeding symptoms.

80

So it was kind of uncertain as to what.

81

A diagnosis of glands would mean for me.

82

I was followed regularly.

83

But every six months I would

have just a regular follow up.

84

But at four, the age of four years

old, I started having some very

85

severe nosebleeds requiring a

lot of frequent hospitalizations.

86

And it was at that point when

we realized how serious glands

87

could, would actually be.

88

And just for clarification for anybody

listening, when you say serious

89

nosebleeds, what do, what does that mean?

90

Because, because we have so many

different understandings of what

91

a serious nose bleed is, and

there's so many misconceptions of

92

what that actually constitutes.

93

So can you describe a bit more

about what does a serious nose

94

bleed that would require a

hospitalization head look for you?

95

Yeah, that's actually a great question.

96

So a serious nosebleed for me

would be a nosebleed that would

97

not, would, would just not stop.

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So I would hold pressure.

99

It would often be going down my throat

and I would be swallowing a lot of

100

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.

107

We would have to call the ENT

service to have my nose packed.

108

More often than not.

109

And on a few occasions as well more

than a dozen I would need red blood cell

110

transfusions or platelet transfusions.

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And a nose bleed has actually

resulted in me being admitted

112

to the ICU on one occasion.

113

Wow.

114

Wow.

115

Because I feel like lots of

times those aren't talked about.

116

As frequently.

117

Mm-hmm.

118

Or understood as, as, as well.

119

And I'm not sure if I missed this,

but how old were you at the time

120

that the severe nosebleed started?

121

Four years old.

122

Four years old.

123

Wow.

124

So, and this was this prior to going

to school, were you in school already?

125

I was in like preschool, but

I was not in regular school.

126

Yeah.

127

Okay.

128

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

130

kind of nosebleeds you're having.

131

So what was the plan, the outcome of that?

132

Yeah.

133

So I'll start off with, I first lived

in like the suburbs of Toronto and

134

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

137

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.

139

And then at the schools that I was

at my mom was really great and she

140

talked to all my teachers beforehand

when I was entering a class as well

141

as the principal of the school.

142

And so that everyone would know

what to do in case I had a bleed.

143

And the plan was really to just call

her right away so that she could

144

come and pick me up and manage.

145

Manage the bleed.

146

So she actually learned how

to pack my nose as well.

147

And if that wasn't good enough, then

I would be taken to the hospital.

148

Okay.

149

Okay.

150

And was there any like

prophylaxis or anything that was

151

offered or anything like that?

152

No, no.

153

So I know there's prophylaxis for

hemophilia patients but nothing like

154

that existed for glands in patients.

155

Okay.

156

Okay.

157

Good to know.

158

And was, was this like, was

your diagnosis something that

159

came as a surprise to family?

160

Was there other family members that had

been dealing with bleeding disorders?

161

What was, how did that work?

162

Yeah, so it was definitely a surprise.

163

There was no one else in my

family with Lyme disorders.

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My parents are not consanguineous.

165

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.

171

And it couldn't actually detect

that they had a mutation.

172

So when they were going on to have

another child, they did not actually

173

know that they were carriers and they

thought I was a spontaneous mutation.

174

But we know now that that's not true,

as my brother also has the disorder.

175

Okay.

176

Okay.

177

Okay.

178

So that it's just two of you,

yourself and your brother.

179

Yeah.

180

Okay.

181

So how did, how did this sort

of play out for you as you got a

182

little bit older, like in terms of

teenage years and things like that?

183

How did that play out?

184

I'll start with my like, older childhood

years, I guess, because I think that's

185

where it was the hardest for me.

186

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

189

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

191

couldn't participate in a lot of things.

192

There was one event in particular that I.

193

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

195

to a spontaneous nosebleed as well.

196

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.

199

I had to miss it because of something

spontaneous I couldn't control.

200

And I think it was really the fact

that I couldn't control a lot of this,

201

that really was more upsetting for me.

202

And yeah, but, so by the time I got

to my teenagers as well, I was a

203

little bit more used to the fact that

I'd had to adapt to certain things.

204

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.

207

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.

209

Know what to do.

210

I never thought that this would happen

to me where I would need to be on

211

crutches for six months, be going

to the hospital three times a week

212

for factor replacement therapy as

well as engaging in physiotherapy.

213

Whereas for patients who are

diagnosed with hemophilia or

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severe one Willebrands, this is

something that's counseled early on.

215

And so I had to miss a lot

of school because of that.

216

But through this experience actually,

and something that I also, I wanted

217

to mention is I was able to find

a passion for swimming and I.

218

Even while I was not able to walk I

actually tried out for a competitive

219

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.

223

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.

226

And what a great.

227

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

229

less, maybe risky for your situation

and having to worry about different

230

bleeds and different spontaneous bleeds.

231

So that's a really neat story around

adapting to that and finding your way.

232

Did you and I, I don't know if

you're comfortable with this and if

233

not, that's okay, but did you have

any difficulties with menstruation?

234

Yeah.

235

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

236

So leading up to monarchy we knew

that this might be an issue and the

237

plan, we would, we'd always talked

about the plan with my hematologist

238

and I was seeing a gynecologist as

well, just in order to plan for that.

239

And we knew that I would always be on

birth control starting when it happened.

240

The issue was we didn't know how serious

my first period would be when I had it.

241

So that was always something

that was like looming.

242

Kind of just in the back of everyone's

minds, but I was really lucky

243

that once I had my first period, I

started on birth control right away.

244

And the only issues I really had

were trying to, like a few years

245

into taking my first birth control

pill, I started have some break,

246

having some breakthrough bleeding.

247

And I had to switch the pill that I was on

and, I've actually been on that pillow for

248

about 10 years now, so I'm really grateful

that I haven't had too many issues there.

249

But I know that a lot of other

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

250

really lucky and really fortunate.

251

Right.

252

So for you, the birth control pill

was a success in terms of helping

253

manage that aspect of bleeding.

254

Yeah.

255

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

256

There are lots of, lots of

people who don't tolerate the

257

birth control pill very well.

258

But in this case, for you, that

that was, for those that can

259

tolerate, that can be a really

useful solution to at least managing

260

that aspect of the bleeding, right?

261

Mm-hmm.

262

Any other experiences while

you were on this journey?

263

I really liked the swimming because it,

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

264

But what the, what the potential

ways of finding your way and, and

265

kind of feeling a little bit more,

especially during the teenage years

266

of how to not feel so outside of it

and be sitting on the sidelines and

267

not be a part of some of those things.

268

But any other experiences that you

can think of that you'd like to

269

share that were either positive or

not as positive in terms of your

270

experience of this bleeding disorder?

271

Yeah.

272

So.

273

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

when I worked at Sick Kids I had the

274

opportunity to work in the hematology

department actually and do some research

275

there during the summers between undergrad

and during one of the summers actually,

276

there was a patient there who was

newly diagnosed with Glanton thrombus.

277

And it was really rewarding for me

to be able to meet the family share

278

a lot about my journey and give

them some kind of hope and just.

279

See, you know, talk to the parents

and have them be able to see

280

like, look like Glands, men's is

not like a life ending disorder.

281

I'm here and I've grown up

with it, and now look, I'm even

282

like working at the hospital.

283

And so it was really nice to be able to

give them some sort of hope and such.

284

But then coming to medical school.

285

It was a little bit difficult for me

to be seeing we to be seeing a lot

286

of the patients inside the hospital

directly, if that makes sense.

287

And a lot of it reminded me of

my time in the hospital and that

288

was something that I had to work

through in order to be able to.

289

Go to work and not sort of think

about my own experiences as a patient,

290

but be able to fully provide for

my own patients without letting

291

that emotional aspect interfere

with the care I was res providing.

292

That's really interesting

how you highlight that.

293

That was almost triggering for you.

294

Mm-hmm.

295

Right.

296

I think that's a really great share in

the sense that just because maybe, you

297

know, you grow up and you adapt and

you do all these things, it doesn't

298

mean that some of those triggers of

those experiences don't still exist.

299

Mm-hmm.

300

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

301

Share to make because I do think that

many of us are drawn to our careers

302

based on many of our experiences.

303

I have VWD and I'm drawn to

be part of this community and

304

work inside of this community.

305

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

point that you make that sometimes you

306

have to, you re end up revisiting some

of your own experiences in being a

307

part of the community in some fashion.

308

So it can be triggering and

it can be almost a period of

309

growth to overcome some of that.

310

So that's a really interesting

perspective that I hadn't thought of.

311

And I appreciate you sharing that.

312

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

stage, are your symptoms the same?

313

Have they shifted?

314

How is, how is the bleeding

disorder picture for you

315

at this stage of your life?

316

Yeah.

317

So this stage of my life, I'm

really grateful that my really

318

severe nosebleeds have, almo

have basic, pretty much stopped.

319

I do still sometimes get nosebleeds

that won't stop with just pressure,

320

but I have learned to manage them.

321

I am really lucky I've access

to surgicel and gelfoam, which

322

I used to pack my own nose.

323

And so if I have a nosebleed that

I can't stop with just pressure.

324

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

it, it, it does stop thankfully within

325

you know, 10 to 20 minutes of the packing.

326

And in terms of other symptoms, I haven't

experienced a joint bleed since I was

327

nine, so I'm really grateful for that.

328

As I mentioned, I don't really

have issues with my periods.

329

Mm-hmm.

330

And so I'm really in like a nice spot

where I still bruise really easily.

331

Still get the occasional nosebleeds,

but I sometimes can even forget

332

that I have a bleeding disorder.

333

I'm able to do almost

everything that anyone else can.

334

And I've even started like doing

things that I, my parents and nobody

335

else probably ever thought I would

like, I learning to surf and things

336

like that, which can have some risks.

337

But as an adult, I know the risks

now, and I also know how to treat

338

myself when things do happen.

339

And so.

340

I'm really grateful that it doesn't

really affect my day-to-day life anymore.

341

Wonderful.

342

And it's also very hopeful and a

reminder that a bleeding picture at

343

one stage isn't necessarily the same

bleeding picture at a different stage.

344

Right, exactly.

345

Yeah.

346

So it's really good to sort of be reminded

of that and packing your own notes,

347

did, who taught you how to do that?

348

So when I was like a child and my

and like always in and outta the

349

hospital due to the nosebleeds, the

ENTs taught my mom how to do it.

350

And I think just from being the

one, getting like my nose packed

351

all the time, I just picked up

what they were doing and just the

352

experience of it taught me how to.

353

My own nose, I guess.

354

I wasn't really formally taught,

but just having it done like

355

hundreds and hundreds of times.

356

Right.

357

Will teach you.

358

Yeah.

359

Yeah.

360

You picked up on how it works

after a number of times, I'm sure.

361

Yeah.

362

So, Caitlin, in terms of your

experiences, and for those

363

that may have same diagnosis.

364

Is there anything that you would

want others to know who might

365

share your diagnosis or even a

bleeding disorder in general?

366

Is there anything that you would want to

share or have them know or any, anything

367

you would want to share with that?

368

I think one of the points you

mentioned was really great.

369

Bleeding picture at one point may not look

like a bleeding picture in the future.

370

And so that was the case with myself.

371

It might not be the case for others,

but it's important to stay hopeful.

372

But another really important thing that

I think everyone with a bleeding disorder

373

or even a rare disease should know, is

that you are the expert on your disorder.

374

Oftentimes you'll be the only

one if presenting in an emergent

375

situation that knows about your

diagnosis and how to manage it.

376

And it's really important to

educate yourself and to learn

377

how to advocate for yourself.

378

There were a lot of times

where I was in the hospital.

379

I had doctors and nurses who had never

come across my disorder, even ENTs

380

who were looking to pack my nose.

381

And there's certain different packings and

management strategies that may work for

382

one bleeding disorder or one presentation

but not someone with glands, mens.

383

And so I'm really grateful my mom was

able to advocate for me when I was a kid

384

and prevented a lot of adverse outcomes.

385

And now.

386

I do the same for myself, and I

think that's really important for

387

anyone with a rare disorder to know.

388

Thanks for that.

389

I think those are really important

points and I'm wondering as a

390

follow up, that advocacy piece

is so important, but it's hard.

391

It's hard to do that

because for many folks.

392

We go in assuming doctors know exactly

what's going on, and many of us learn

393

very quickly with a bleeding disorder

that that's not always the case.

394

Do you have any suggestions on how

to develop those advocacy skills?

395

Yeah.

396

I think the first one would be reading

up as much as you can about the disorder,

397

trying to educate yourself asking

questions every time you're at a doctor's

398

visit if you're uncertain about something.

399

And not, not only helps you answer

your own questions, but challenges

400

your healthcare providers as

well to be able to answer them.

401

I think another thing that's really

nice about the world we live in today is

402

that there's lots of online communities.

403

And even different organizations

that weren't available when I was a

404

kid to be able to connect with other

patients with the same disorder.

405

And so I've actually there's actually

like the Glanton Research Foundation now,

406

which I've been a part of their community.

407

And there's a lot of people

sharing information, different

408

information there on treatments

and asking questions and such.

409

The only thing is I would just

caution that a lot of these a lot of

410

the patients who are part of these

groups are from different countries

411

worldwide, and management avail

availability for certain kinds of

412

management that are available in Canada.

413

Are not available there and vice versa.

414

So it's always really important to

do your own research and talk to your

415

doctors and work with the doctors and

your multidisciplinary care team as a

416

team to decide what would be best for

you with the treatment options available.

417

That's a great point and I, I think

it's a really neat reminder again of

418

all the communities that are out there,

but also with the just disclaimer of,

419

you know, you really have to check

in with your, your healthcare team.

420

And the other thing that comes to mind

is you had such advantages being in a

421

multidisciplinary clinic that was able to.

422

Anticipate, for example, monarchy

coming up and was able to really, you

423

could see a gynecologist, you could see

your hematologist, and just a, maybe

424

a reminder to anybody listening that.

425

If you are not in a multidisciplinary

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

426

So you can actually ask for a

referral to a nearby multidisciplinary

427

clinic if that is something that

you feel would be beneficial to you.

428

It's a bit of a, it

can be a bit of a trek.

429

It's not always close.

430

As you said.

431

You actually ended up moving to be closer.

432

Right.

433

But if, if somebody is.

434

Invested and wants to

take the time to do that.

435

It is something that they can do.

436

I, I don't know that everyone knows

that they can actually ask to be

437

referred to a multidisciplinary clinic.

438

I think sometimes the assumption

is, well, this is where I've

439

got, this is all I've got.

440

That's what I've gotta do.

441

But it is actually something that

you can request if you feel that

442

that would be beneficial to you.

443

So thank you so much for all

of this information and just

444

sharing your experiences.

445

I really think that this will be

such a value add to our folks in

446

the community and being able to have

another voice and their experience

447

and what they did shared out there.

448

So I really, really appreciate

you joining me today.

449

I know how busy you are with your.

450

Being a medical student.

451

So it was super, super

wonderful that you joined today.

452

Is there anything else you wanted

to add before we say goodbye?

453

Well thank you so much for having me.

454

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

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what else hero X does in the future

and being a part of that as well.

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Oh, thanks so much.

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Wonderful.

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Thanks so much Caitlin.

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We really appreciate you being here.

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Thank you for having me.