Doctor Reacts To Extreme Diseases

In medicine, we always say that we should celebrate everybody.

And that literally means everybody.

So, on this episode,

let's react to bizarre bodies and love them just as much.

Huge thanks to Zakdoc for sponsoring this video.

>> In Kansas City, 28-year-old Justice Collins suffers from a rare sleep condition.

>> Narcopsy type 1 is a neurological disorder where my brain can't regulate my

sleep cycles.

>> That's already a great explanation of what narcolepsy is.

I'm glad she pointed out that it's type one.

There are two different subtypes, type one and type two.

The real issue within narcolepsy is that there is a neurotransmitter deficiency called arexin.

And as a result,

you can't manage your sleep wake cycle that she just described.

It's not like you're just sleeping more in a 24-hour period

as compared to a regular person.

You're actually sleeping the same amount.

It just your sleep is completely disregulated

because that neurotransmitter or Rexin allows you to stay awake.

It keeps you awake.

>> This will cause me to fall asleep without warning.

Typical morning for me 3:00 is

when my first alarm goes off

and get ready to go to the gym.

>> Yeah.

So imagine they can't sleep well at night

but sometimes fall asleep inappropriately during the day.

This can happen during boring activities, just being sedentary,

and it's obviously extremely disruptive to one's life.

Imagine you can't sleep well at night, and during the day,

you're falling asleep at all these inappropriate times.

>> I'll head to the gym at around 4, get back to the apartment,

take a shower, and then go back to sleep for like my morning nap.

I always tell people it's not waking up that's the issue,

it's staying up that's the problem.

Interestingly, when we make diagnosis uh for narcolepsy,

we do two types of sleep testing.

The traditional type of sleep testing and one called multiple sleep latency tests,

which basically allows us to see how quickly one can fall asleep after numerous

naps progressively throughout the day.

And for a regular individual, if you can fall asleep for a nap,

the next time that you try and have a nap,

it's going to be difficult to begin that nap.

That's called sleep latency.

So ideally that period should get longer and longer,

but usually if you have narcolepsy,

you can have multiple naps throughout the day where you fall asleep quite quickly.

>> There's no off button and there's no like not having it for a day.

I played my day to like put myself in the best position to be

successful.

Earliest that I can think about having an episode is probably like second grade.

I remember being in class

and trying to like pop rubber bands on my wrist.

I'm like trying to eat things, drink, do anything to keep myself awake.

>> This is not an issue of self-control.

This is a neurotransmitter, a neuropeptide,

cuz I know everyone loves peptides in the brain.

And as a result of we think it's autoimmune damage to this uh neuron

that actually creates a rexin

that it you have a deficiency in the this neurotransmitter,

therefore having less ability to control your wakefulness.

Interestingly, there are some theories

that there's potentially an infectious root cause

that begins the autoimmune process to destroy those neurons

that could be tied to influenza,

the flu, and even strep throat.

>> And I physically could not stay awake no matter what I did.

And I was like, I don't think I think this is normal.

>> And there's also a few other components here. cataplexi where there is literally

a weakening or giving out of certain muscles on the face,

sometimes on the body during moments of happiness, elation, laughter.

Uh there's hallucinations as you're like falling asleep.

Uh sleep paralysis where you're awake

but for a couple of minutes even

though while you're awake you can't move.

It's truly terrifying.

>> Every outing for justice is a risk.

In the US, it's legal to drive with narcolepsy,

but taking to the wheel could have fatal consequences.

>> I'm surprised if you have multiple episodes falling asleep

while driving that you can continue to have a driver's license.

I feel like there's got to be a neurologic evaluation there.

>> Today, her sister Ava has opted to drive.

Within moments, a narcolepsy cycle starts.

Had Justice been driving, a catastrophic collision could have occurred.

Sometimes I'm able to wake her up and she'll wake up.

Sometimes she'll sleep through it.

Uh it depends on justice in her body sometimes.

Usually what I tell people is don't wake her up.

Let her let her be.

It's not a big deal.

An interesting tidbit about narcolepsy is

that when they wake up from these small sleeps,

these sleep attacks if you will, there's a feeling of being well-rested,

which is unlike uh if you have, let's say,

sleep apnnea where you're having difficulty with your sleep wake cycles

and you have daytime sleepiness

and you don't feel well rested

when you wake up.

But usually from these sleep attacks, you wake up feeling okay.

So I can hear what's going on around me.

When I was younger,

I used to think I had superpowers cuz I could like play back conversations

that I was asleep for.

It's the trippiest thing.

>> Other people may wonder what's going on.

It's funny to see people sleeping out in public.

So sometimes that brings some attention.

So I just make sure just to keep her safe.

Just making sure people respect her and that her episode is not a spectacle.

Right.

>> Yeah.

You don't want people laughing at your medical condition,

especially an invisible medical condition like this, of which there are plenty.

But there are medication options uh

that are available for this

that uh certainly play a role.

Uh there's certain uh medications on the horizon

that can play a genetic role in this.

Um so there's there is hope in the future for those who suffer with

narcolepsy.

>> There are challenging days where I'm like, "This day was shot.

My disorder was whooping my butt today."

But understanding as a young person that you still can live a functional life,

that you still can achieve the things you want to achieve.

I think that is the biggest understanding

that you aren't like chained in by your disorder.

And if the worst thing in my life is

that I have to allocate a few extra naps

and be a little more cognizant about

when I drive,

I'll take that.

>> That's a great outlook on a complex condition.

Not everyone will feel that way,

but this is an example of post-traumatic growth overcoming through a very difficult challenge.

Remember humans are resilient and we our brains are wired to be resilient.

So for all this talk about PTSD

and that term is used casually quite often.

Most people do not suffer PTSD

or go into a very dark place

when something negative happens to them.

They may temporarily and that's appropriate but I'm talking about pathologic dark place.

And the brain is wired for success.

If and if it happens that you're not having success, that's where medical help,

mental health help can come into play.

>> When doing my morning routine, things look a little bit differently for me.

For example, I'll sit on the floor to brush my teeth.

>> So, when someone has uh a limb length discrepancy in a scenario like this,

it can be traumatic,

meaning that they got into an accident

or it could be congenital

that they were born in this way.

There are unique scenarios where uh it's something

that is acquired as well

but more commonly falls one two of those two categories.

>> Terresa Bookholtz was born without fully formed arms.

>> So it's some kind of congenital dysplasia

or a plasia of the long bone of the arm.

Anything I do is definitely centered around my limb difference

because the world is not built for um a limb different person,

specifically someone missing both their arms.

>> What doctors do know is

that exposure to chemicals

and viruses can affect an embryo's development in the uterus,

causing these life-changing differences to occur.

My mom was a physical therapist,

so she had one of her friends who was an occupational therapist come to

our house.

And I remember we were just all sitting in the bathroom

and I was trying to figure out like how am I going to get

my pants up?

How am I going to get my pants up in public?

Just like learning how to do hygiene things was definitely one of my earliest

memories.

>> I think hygiene

and safety are the two most important things to take into consideration in a

scenario like this. um need to be able to stay free of bacteria,

of germs, infections, but also be able to care for yourself in in case

of an emergency if there's a fire,

being able to turn off the stove in a way

that she's not going to burn her foot.

Little things like that make a big difference

that we take for granted every single day.

>> I use this hook.

My waistband and my pants is always a little wonky.

So, I'm going to fix that really quick.

I use the hook to get my pants up and down.

>> So, people use hooks like this.

They use very specific devices to put socks on.

Uh there's significant investment being made in creating devices to help those with unique

uh congenital deformities and just variations,

anatomical variations.

>> I'm going to text my sister really quickly to see how far away

she is.

>> The more you use the neuromuscular pathway,

the better control you develop of that neuromuscular pathway.

So the control that an individual like myself would have of their toes is

drastically different than the control she has given the fact

that she uses her toes for these fine motor movements.

>> Glad you're here.

>> We both have the same limb difference and it is congenital limb loss,

meaning we were both born this way.

>> We're not exactly sure why this happened to us.

>> We were both adopted at pretty young ages.

Obviously being from the same family, genetic is a possibility,

but exposure uh to either, as they said,

a virus or perhaps uh an environmental toxin,

medication can be a cause as well.

>> Congenital limb differences have been attributed to chemicals left behind from the Vietnam War,

pesticides from farming, or a lack of folic acid in birth mother's diets.

>> The hardest things are just those daily things like getting dressed, carrying things,

riding was a challenge.

Just any daily activity was a struggle for us.

>> Yeah, it requires more planning.

It requires assistance, asking for assistance, even when perhaps it's uncomfortable.

>> I think that arms are overrated because people assume that you're incapable.

And here I am.

I'm capable.

I'm in grad school living my dreams.

>> Oh, local New Yorker.

Love to see it.

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All right, let's get back to the show.

I went on a night out with my friends.

Everything was normal.

The next day, I woke up with like tingly legs, like pins and needles.

About half an hour, an hour later,

I was in my ex partner's car with my friends.

As I went to pull my seat forward,

the left side of my face dropped.

Um, and I wet myself.

>> Oh, is she having a stroke?

Because she's losing control of her bowel and bladder.

Although, no, this is a it could be cotinus syndrome.

>> I cried and screamed.

I couldn't move my legs at all. like I couldn't even move my toes

or anything.

>> Codiaquinina, I think, literally means the end of a horse tail

because the end of your spinal cord kind of looks like a horse tail.

And when there's incredible impingement or pressure or damage to that area,

you actually lose sensation to the lower parts of your body.

You lose muscular control uh of your bowels and bladder.

So, this would right away need evaluation for that.

>> They ended up calling an ambulance.

So, I got rushed to hospital. also could be multiple sclerosis.

I mean, like the differential diagnosis here is still broad.

>> Thinking she may have been spiked, they carried out blood and urine tests,

but there were no traces of drugs in her system.

>> And I'm assuming they did imaging.

Usually, in order to make a diagnosis of MS,

it would require MRIs of the brain and spinal cord.

>> Mary Jade was kept under close observation until doctors diagnose her with functional

neurological disorder or FND.

It causes me paralysis, blindness.

I have seizures.

>> Oh, the these are a whole lot of other symptoms

that have been presented

that I was not ready for.

>> I use catheterss to go to the toilet because my bladder goes into retention.

I also get incontinents and many other symptoms.

>> Yeah.

So, FND is a very complex condition in

that uh a lot of tests

that we do both imaging,

blood, etc. will come up normal.

It requires a very experienced neurologist in the condition to make this diagnosis appropriately

based on some specific clinical signs,

the symptoms that a patient experiences, the timing of the condition,

and it's a functional issue in that there's nothing actually wrong anatomically.

It's the or chemically even.

It it's simply that the neurologic system is malfunctioning.

Mary Jade suffers from functional seizures which can present as uncontrollable blackouts, collapsing,

and twitching.

These episodes can be life-threatening due to injuries from falling

or choking on excessive saliva

and vomit.

>> That's so scary.

Imagine like you just have no control over when a condition happens,

no true understanding of why the condition is happening.

It's got to be incredibly frustrating.

>> So, we know the condition is very rare.

Did the question is did you know it was possible before learning of your

diagnosis?

What does that mean?

>> Mom.

Mom.

>> I can't believe they got one on camera.

Look how intense that is.

She has medication bands that say her condition, which is important,

but we also don't take it

as fact at times

because that's not an official line of medical communication.

>> After the trauma of the seizure, Mary Jade will need help to recover.

>> All I can do is help her when she's having a seizure,

but I don't know how to stop it.

I don't know how to prevent it.

>> Mary Jade can have up to 40 seizures a day.

A lot of these seizures are treated not by medications

but by therapies like CBT

and others.

>> The cause of FND is unknown.

For now, all Mary Jade can do is manage her life-changing symptoms.

>> Yeah, the goal here is really to retrain the brain and body,

and that's easier said than done.

>> I have brilliant family and friends that really help look after me.

And I'm also grateful for the fact

that I didn't give up

when so many times I wanted to.

>> Yeah.

Yeah, I mean it's very important to not give up.

Work with a multid-disciplinary team, occupational therapist, speech language pathologist.

I mean, you need an entire team to help you in a scenario like

this.

>> In Peach Tree City, USA,

Ashley Kerpiel is suffering from a very rare disorder

which is turning her muscles to bone.

>> Oh, muscles to bone.

So this is some kind of oification process

because what happens when you have injury you do experience a little bit of

fibrosis calcium being deposited

but I think in a condition like this you actually have new bone forming

where like the entire joint oifies the connective tissue

that normally makes a joint functional becomes bone >> basically I'm kind of turning

into a human statue in the sense >> the condition is called fibroisplasia oificans

progressiviver or fop.

>> I mean that's really rare.

I mean hundreds of people globally.

>> It affects roughly 800 people in the world

and Ashley is one of just 300 cases known in the United States.

>> One of the more very problematic issues with a condition like this is

intuitively you start thinking,

oh well remove the excess bone surgically in order to give the person range

of motion.

But sometimes removing surgically

that bone actually creates a hyper excessive bone growth

because this uh turning of connective tissue into bone can happen spontaneously

or it can happen

as a result to injury.

So surgery can be that injury that actually triggers more bone formation.

>> She was very healthy.

She was sweet.

She was an adorable baby girl.

and we took her home

and it wasn't until she was about two

and a half almost three years old

when we noticed a lump come up on her back.

>> This is a condition where this like gene editing

that we frequently talk about would be a really great place to to use

it.

>> We took her immediately to her pediatrician

and he couldn't quite understand what it was.

He thought maybe some kind of tumor.

It was very red and warm to the touch.

I mean, if it was really red and warm to the touch,

I would think abscess.

That's first and foremost.

I'm surprised they thought tumor.

>> At 3 years old,

Ashley was misdiagnosed with infantile myof fibromyitosis and doctors amputated her arm.

>> We were told uh she would be fine.

We take her home at the end of the day

and then after eight hours of operation,

there was literally nothing left to to save in her arms.

So, we were told it was just a decision

that was made and we weren't consulted

as to uh that being a possibility even,

never mind that that was going to happen.

>> That's a terrible way for that to happen.

Not because it wouldn't have happened otherwise,

but the fact that someone doesn't have full consent,

informed consent to know what the risks going into a procedure are,

why the procedure needed to have happened, was there other options,

other avenues that they could have gone down?

Uh it's really unfortunate

when patient autonomy is lost like this

because we we practice by

that principle and we should continue practicing by

that principle.

>> Around six months later,

the hospital in Atlanta phoned to say that Ashley was really suffering from FOP.

>> They told us it was extremely rare.

We probably would never hear or see anyone with this disease.

>> I have patients with all sorts of very unique diseases.

Some where they have limitations of their spinal movement. one with a condition called

dish.

Very complex, huge extra curve

that is formed in the spine

that makes movement quite painful.

But at least in those conditions, there are potential avenues for some surgeries.

Here, that's not an option.

>> It's one of the most devastating diseases to mankind.

It's a very cruel, wicked disease.

The body freezes and eventually the only thing

that can move the lips

and the eyelashes,

the eye eyelids.

It's a progressive disease, so symptoms inevitably get worse over time.

>> A flare up with FOP is um a lot of pain.

Uh sometimes a lot of swelling.

>> Hold on.

Don't It's I can't get that wheelchair behind me.

It's There we go.

>> So painful that she couldn't even get under a fan.

Just the air from the fan would hit it

and it would send her up the wall.

>> Yeah.

Think about it.

The connective tissue now turning into bone. how much pressure that puts on nerves.

And you know the the balance of keeping your bones healthy is such an

intricate and unique balance

because if you have your bones become too strong

that actually becomes problematic.

We have a condition known

as osteopetrosis where the bones get stronger

but because they become stronger they end up becoming more brittle

and easier to crack.

It's kind of uh paradoxical in nature.

And on the flip side,

you have a condition osteiogenesis imperfecta where you have brittle bones.

So like incredibly weak bones

and then you have ricketetts where you don't have enough of a certain nutrient

and then you develop weaker bones.

Man, uh bone health is very interesting.

You literally have two cell lines called osteoclast

and osteoblast that monitor the breakdown of bone to get calcium out

and then osteo uh blast to add calcium

and build bone up.

So you have two processes happening at the same time.

And if that balance is lost, you can have a destruction in your bone.

>> FOP impacts my daily life pretty much all day every day.

I cannot dress myself.

>> I can't bathe myself.

I can't do my hair.

>> All right, I'll back up.

>> I need help in the kitchen getting food cuz I can't reach things.

>> Thank you.

>> I need help with everyday life.

It's tough being an adult not being able to take care of yourself.

There are currently seven drug treatments in trial right now for FOP.

I am a human guinea pig for one of the drug studies for FOP.

Growing up, we never had that.

Like, we never thought we would see that day.

And the closer we get, the more people we get,

the more awareness and funding we get to to try

and find that cure out there.

Got it.

>> For Ashley, remaining social is vital

and she has found her community online using social media.

>> Finally, something positive about social media

and a good use of it uh

as opposed to all the algorithmic bad news.

The the bright spot of social media has always been connecting unique communities to

one another.

Whether it's an LGBTQ community or someone with a unique medical condition,

finding those communities and finding people who are like-minded,

who you feel safe around,

who you feel seen around is of utmost importance for a healthy mindset.

>> I started this because I grew up this way.

Ampute life is just my normal.

But these people that go through it later in life need that support.

And it's like it's family.

Giving back, being in service of others is an antidote to feeling bad yourself.

And that is a good thing.

That is the inner humanity in all of us

that actually allows us to heal,

to come together, why we're better as a collective than as individuals.

So, uh, it's a really powerful statement that she's making there.

Sometimes I actually argue with my patients and sometimes it saves their lives.

Click here to check that out.

And as always, stay happy and health.