The Boy With No Skin | Our Life

Summary

This documentary follows the lives of individuals with epidermolysis bullosa (EB), a genetic skin disorder. It highlights the struggles and resilience of Jonathan, who faces life-threatening challenges, and Charlie, who undergoes a bone marrow transplant that dramatically improves his condition. The film also explores groundbreaking treatments and the potential of gene editing to offer hope for a cure. The story is a testament to the strength of the human spirit and the power of medical advancements.

Takeaways

• 🌟 Jonathan Johnfriedo, at seventeen, lives with epidermolysis bullosa (EB), a genetic condition that causes the skin to be extremely fragile and prone to blistering.
• 🤕 EB affects not only the skin but also internal organs, causing lifelong pain and a significantly reduced life expectancy.
• 👶 Charlie Nuth, at eleven, was born with the most severe type of EB and was adopted after being abandoned at birth due to his condition.
• 🩺 A groundbreaking treatment involving a bone marrow transplant has shown remarkable results for Charlie, improving his skin's strength and quality of life.
• 💉 Despite the success of Charlie's treatment, Jonathan has been hesitant about medical interventions due to a traumatic surgical experience.
• 🐬 Inspired by Winter the Dolphin's story of survival, Jonathan found the strength to persevere through his own challenges with EB.
• 💼 The financial burden of managing EB is immense, with the cost of bandages and medical supplies reaching thousands of dollars per month.
• 🎓 Jonathan is determined to graduate high school and dreams of working with animals, showcasing his resilience and desire for a somewhat normal life.
• 🔬 Dr. Jacob Tolo is pioneering treatments for EB, including the possibility of a cure through gene editing, which corrects the malfunctioning type 7 collagen.
• 🧬 Gene editing holds the promise of a cure for EB by replacing the faulty gene with a healthy one, offering hope for a future without the disease.
• 💪 The determination and positivity of individuals with EB, like Charlie and Jonathan, demonstrate the power of the human spirit in the face of adversity.

Q & A

What is epidermolysis bullosa (EB)?

Epidermolysis bullosa (EB) is a genetic condition characterized by extremely fragile skin that is prone to blistering and tearing from minor friction or trauma. It affects every aspect of a person's life, causing severe pain and complications such as infections and skin cancers.

What was the initial diagnosis experience for Jonathan's family when he was born?

The initial diagnosis experience for Jonathan's family was hectic and devastating. Jonathan was born with missing skin in places, and after tests, doctors suspected EB. The family was told about the painful life Jonathan would have, including difficulties eating and walking, and they even had a priest give him his last rites due to the severity of the condition.

How did Jonathan's mother feel when she first held him?

When Jonathan's mother first held him, she felt a wave of hope despite the devastating news. Jonathan looked at her and smiled, which made her feel like everything was going to be okay.

What is the significance of the bone marrow transplant for Charlie?

The bone marrow transplant was significant for Charlie because it helped heal his body from within, improving his skin's condition dramatically. It transformed his life, allowing him to engage in activities he previously couldn't, such as swimming and not being covered in dressings.

What was the impact of the bone marrow transplant on Charlie's quality of life?

The bone marrow transplant had a profound impact on Charlie's quality of life. It allowed his skin to heal, reducing the pain and discomfort he experienced. He was able to engage in normal activities like swimming and no longer had to be covered in dressings constantly.

What is the current life expectancy for individuals with severe EB?

The life expectancy for individuals with severe EB is often shortened, with most people dying by the time they reach 30 years old without treatment.

What is the financial burden of managing EB for Jonathan's family?

The financial burden of managing EB for Jonathan's family is significant, with an estimated cost of three to five thousand dollars a month just for dressings, not including other medical expenses.

What was the turning point for John in considering a bone marrow transplant?

The turning point for John in considering a bone marrow transplant was meeting Dr. Tolar and seeing the dramatic improvements in Charlie's skin and quality of life after the procedure.

What is the role of Dr. Jacob Tolo in the treatment of EB?

Dr. Jacob Tolo is a pioneering surgeon who has been conducting bone marrow transplants for EB patients. He is also involved in research and clinical trials for gene editing as a potential cure for EB.

What is the potential of gene editing in treating EB?

Gene editing holds the potential to cure EB by correcting the genetic mutation that causes the malfunction of type 7 collagen. This could provide a long-term solution for patients, drastically reducing the severity of the disorder or even eliminating it.

What was the emotional impact of meeting Winter the dolphin on John?

Meeting Winter the dolphin was a dream come true for John and had a profound emotional impact. Winter's story of resilience and survival inspired John during a difficult period in his life, and meeting her in person was an unforgettable experience.

Outlines

00:00

😢 Life with Epidermolysis Bullosa (EB)

The paragraph introduces seventeen-year-old Jonathan, who suffers from epidermolysis bullosa (EB), a genetic condition that causes the skin to be extremely fragile and prone to blistering. Jonathan's birth and the realization of his condition are described, along with the emotional turmoil his family experienced. His mother recounts the devastating prognosis given by doctors, who predicted a life of constant pain and a short life expectancy. Despite the challenges, Jonathan's personality and spirit are highlighted as sources of strength for the family. The paragraph also touches on the broader implications of living with EB, including the risk of serious infections and the desire to make every day meaningful.

05:02

🌱 Hope and Healing Through Bone Marrow Transplant

This section of the script discusses the transformative impact of a bone marrow transplant on Charlie, an 11-year-old with the most severe type of EB. Initially given a grim prognosis, Charlie's life changed dramatically after the surgery, which released stem cells that healed his body from within. The paragraph details the miraculous recovery process, the improvements in Charlie's quality of life, and the hope this treatment has brought to the EB community. It also contrasts Charlie's experience with John's hesitance to pursue the same therapy due to the associated risks and his traumatic past medical experiences.

10:04

🎓 John's Daily Struggles and High School Dreams

The paragraph delves into the day-to-day challenges faced by John due to his EB condition, which affects his mobility and ability to engage in normal activities. It describes the meticulous care required for his skin, the pain management routine, and the financial burden of medical supplies. John's aspirations for the future are also highlighted, as he plans for life after high school graduation. His dream of working with animals is explored, showing his determination to lead a life beyond the limitations imposed by his condition.

15:07

🐬 Inspiration from Winter the Dolphin

In this part of the script, John finds inspiration in the story of Winter, a dolphin who overcame the loss of her tail and became a symbol of resilience. John's connection to Winter's story is so profound that he begins fundraising for the marine hospital that saved her. The narrative illustrates the power of hope and the impact of Winter's journey on John's own life, as he finds the strength to persevere through his struggles.

20:09

🔬 Exploring the Potential of Bone Marrow Transplants

The paragraph explores the possibility of bone marrow transplants as a treatment for EB, as John and his mother consider the therapy more seriously. They meet with Dr. Tolar, who has performed successful transplants on EB patients, to understand the risks and benefits. The conversation underscores the advancements in medical knowledge since the procedure was first introduced and the improved outcomes that have resulted from these learnings.

25:11

🤝 Meeting Charlie: A firsthand Look at Treatment Success

John meets Charlie, a young boy who underwent a bone marrow transplant, to witness the effectiveness of the treatment. The encounter provides John with a firsthand account of the transplant's impact on quality of life. Charlie's improved skin strength and the family's positive outlook on the procedure offer John a new perspective on the potential benefits of the treatment.

30:12

🛠️ Hand Reconstruction and Future Hopes

This section discusses Charlie's hand reconstruction surgery, a procedure aimed at correcting the deformities caused by EB. The surgery's progress and the hope for Charlie's future independence are highlighted. The paragraph also addresses the broader implications of ongoing research and the potential of gene editing to cure EB, offering a glimpse into the future of treatment for such disorders.

35:16

🐠 Meeting Winter: A Dream Fulfilled

The script concludes with John's visit to the Clearwater Marine Hospital to meet Winter, the dolphin who inspired him. The emotional encounter signifies a culmination of John's journey, as he faces his fears and finds solace in the resilience of Winter. The meeting serves as a testament to the power of inspiration and the human spirit's ability to overcome adversity.

40:17

💼 The Road Ahead: Funding the Cure

In the final paragraph, the focus shifts to the need for funding to advance clinical trials for EB treatments, including gene editing. The script emphasizes the urgency and the potential for a cure, highlighting the critical role of financial support in making these treatments a reality. It ends on a hopeful note, with the community's determination to improve the lives of those affected by EB.

Keywords

💡Epidermolysis Bullosa (EB)

Epidermolysis Bullosa, or EB, is a group of genetic skin disorders characterized by fragile skin that blisters and tears from minor friction or trauma. In the video, it is the central theme as it affects the lives of individuals like Jonathan and Charlie, causing them severe pain and impacting their daily activities. The script describes the condition's impact on their quality of life and the medical challenges they face.

💡Genetic Condition

A genetic condition is a disease caused by abnormalities in an individual's DNA or chromosomes. In the context of the video, EB is a genetic condition that Jonathan and Charlie are born with, which dictates their physical fragility and susceptibility to skin injuries. The script mentions the genetic aspect when discussing the diagnosis and the hereditary nature of EB.

💡Protein Deficiency

Protein deficiency refers to a lack of essential proteins in the body, which can lead to various health issues. In the video, Jonathan's body lacks a vital protein that holds the skin together, which is a key factor in EB. The script illustrates this when explaining how Jonathan's skin is fragile due to the absence of this protein.

💡Life-Limiting Disease

A life-limiting disease is a condition that is likely to result in death or significantly shorten a person's lifespan. The video discusses EB as a life-limiting disease, emphasizing the serious nature of the condition and its impact on the life expectancy of sufferers like Jonathan and Charlie.

💡Infections

Infections occur when harmful microorganisms enter the body and multiply, causing illness or disease. In the context of the video, individuals with EB are prone to serious infections due to their fragile skin and compromised immune systems. The script mentions this as a constant threat to the health of those living with EB.

💡Skin Cancers

Skin cancers are malignant growths that develop in the skin cells. The video script highlights that individuals with EB have a higher risk of developing skin cancers due to the constant skin damage and the body's inability to heal properly.

💡Bone Marrow Transplant

A bone marrow transplant is a procedure that involves replacing damaged or destroyed bone marrow with healthy bone marrow stem cells. In the video, Charlie undergoes a bone marrow transplant, which is portrayed as a radical new surgery that has significantly improved his skin condition and overall quality of life.

💡Stem Cells

Stem cells are undifferentiated cells that have the potential to develop into many different types of cells in the body. The video discusses the use of stem cells released from a donor's bone marrow in Charlie's treatment, which helped heal his body from within and led to a dramatic improvement in his skin condition.

💡Quality of Life

Quality of life refers to an individual's overall well-being and satisfaction with their life. The video script frequently refers to the efforts made by individuals with EB and their families to improve their quality of life despite the challenges posed by the disease, such as seeking new treatments and finding joy in everyday activities.

💡Fundraising

Fundraising is the process of collecting voluntary contributions of money or other resources for a cause. In the video, Jonathan is inspired by Winter the Dolphin and starts fundraising for the marine hospital that saved her. This act of giving back is a testament to the positive impact that inspiration can have on an individual's actions.

💡Inspiration

Inspiration is a feeling of enthusiasm or desire for action or creativity, often triggered by someone or something that one admires. The video shows how the story of Winter the Dolphin serves as an inspiration for Jonathan during his difficult times, motivating him to not give up and to contribute positively to the cause that inspired him.

💡Gene Editing

Gene editing is a group of technologies that allow for the addition, deletion, or alteration of the genetic material within an organism's genome. The video script mentions the potential of gene editing to cure EB by correcting the genetic mutation that causes the disease. This represents a hopeful advancement in medical science that could transform the lives of those with EB.

Highlights

Jonathan Johnfriedo, at seventeen, lives with epidermolysis bullosa (EB), a genetic condition causing skin fragility and severe pain.

EB affects every organ in the body, causing life-limiting complications such as serious infections and skin cancers.

Jonathan's birth and early diagnosis were challenging, with immediate skin issues and a devastating prognosis.

Despite the condition, Jonathan's personality shines through, providing smiles and hope amidst the pain.

Charlie Nuth, at eleven, underwent a radical new surgery involving a bone marrow transplant to treat his severe EB.

The bone marrow transplant released stem cells that healed Charlie's body from within, leading to dramatic skin improvement.

Charlie's life-enhancing procedure has allowed him to enjoy activities like swimming, previously impossible with his condition.

John, who has not considered bone marrow therapy, lives with the constant threat of his EB worsening without treatment.

The cost of managing EB is immense, with thousands spent on bandages and medications each month.

John's aspirations for a future involve working with animals, a dream that provides a sense of purpose despite his condition.

Charlie's ongoing medical advancements, including hand reconstruction, demonstrate the potential of systematic treatment for EB.

Dr. Jacob Tolo's pioneering work with EB includes not only bone marrow transplants but also exploring gene editing for a cure.

John's encounter with Winter the Dolphin's story inspires him to fundraise for the marine hospital, showing his resilience and spirit.

The documentary explores the emotional journey of living with EB, the impact on families, and the hope for a cure.

John's potential consideration of the bone marrow transplant reflects his growing autonomy and desire to improve his quality of life.

The film concludes with a call to action for funding clinical trials, emphasizing the need for financial support to advance EB treatments.

John's visit to meet Winter the Dolphin is a heartwarming culmination of his inspiration and fundraising efforts.

Transcripts

[Music]

seventeen-year-old jonathan johnfriedo

was born with the genetic condition

epidermolysis bullosa

or eb his body lacks a vital protein

that holds it together

i am fragile on the outside because of

of the skin disorder but on the inside

i'm just as weak

the day jonathan was born was pretty

hectic

they noticed something wasn't right and

he was missing a little bit of skin here

and there

and i figured oh he was just in too long

he was two weeks late

then they've been testing for certain

problems and

uh the skin completely tore off when

they tried to get a little blood out of

them

i had people coming and saying oh this

is what we think he has epidermolysis

bullosa and i said

can you spell that for me it was pretty

devastating

and it was probably one of the worst

days of my life

because they told me how horrible his

life was going to be

he wouldn't be able to eat without pain

he wouldn't be able to walk without pain

everything was just gonna be pain i

didn't know if he was gonna live

if he was gonna make it we even had a

priest give him his last rights just in

case

i just cried till i fell asleep a doctor

come in

and he asked do you have any questions i

said when can i hold him

and as soon as they put him in my arms

he just looked at me and smiled

and i just felt a wave of really it just

made me feel like

it's going to be okay sufferers of this

life-limiting

disease are prone to serious infections

and skin cancers

i don't know how long i have with them

there is a life expectancy

it scares me every day so

every day i want to make it as

meaningful as possible

[Music]

now only at selected locations

that's right ladies i'm available

if he didn't have the personality that

he did i i think it would be

ten times harder he wants some carrots

and celery

you know all i want is some girls in

here

seeing them smile just

makes me feel better makes me feel like

i'm not doing everything wrong

it gets super cold once you get out of

that tub

because you're soaking wet

people say i know just how you feel when

really they never do

unless they get the experience unless

they had it

for just one day of my life just torture

mentally and physically

[Music]

all right charlie you know you're going

to flip yourself over the back of this

bed because

you so nasty

like john 11 year old charlie nuth was

born with the most severe type of eb

trisha and her husband adopted him after

he was abandoned at birth because of his

condition

i got the phone call and they said that

he had a lethal

skin disease and he would not live

very long at all definitely not even a

year

any sort of shifting or moving of the

skin will cause

wounds similar to second and third

degree burns all over the body

and blisters that's inside and out so it

affects the gi tract the mouth

the eyes it literally affects every

single organ in the body

this was one of the worst cases of eb

the doctors had ever seen

the hardest thing i have ever done ever

in my life was to stay brave in front of

charlie

when i thought he was gonna die you know

when you

see your own kid ripping their skin off

in front of you you know

i would start to lose it myself i'll cry

every time i say this

[Music]

but even as a two-year-old he would

comfort me

hi youtube hello people

hello

[Music]

constantly on death's door charlie was

thrown a lifeline

mum trisha pushed for him to be one of

the first patients

for a radical new surgery a donor's bone

marrow was implanted into charlie

and released stem cells that healed the

body from within

i mean within weeks you could literally

watch his skin healing it started in his

head

and you could see it traveling down his

body

and overnight i witnessed his skin go

from

tissue paper translucent in appearance

to like normal little boy skin i've

never ever seen

any sort of research or clinical trial

ever show those dramatic results

he was incredible he probably had the

best year and a half of his life after

that transplant

he didn't have to be covered in

dressings went swimming

jump his life has drastically improved

it helped my skin a lot all right how's

that

good good it's good

usually my skin would just come

you know right off but now

i can rub it freely and it won't hurt me

see

and no

it's amazing it feels nice actually

whilst charlie is reaping the benefits

of his bone marrow transplant

john has never considered this therapy

it was 10 years ago when brenda first

heard about it being trialled

[Music]

i went online investigated as much as i

could it was new there wasn't a lot out

there

we mentioned it to john we told him well

it's a bone marrow transplant

he's like well what could happen to me

he said there has been some that haven't

made it he's like well then i'm not

doing it

if you're not giving me a 100 guarantee

forget it

i just know from what i've heard from

other parents i guess one kid

ended up dying from it a couple kids

maybe

just too much of a risk and i don't want

to take that

without treatment most people who have

john's type of eb

will die by the time they reach 30. will

he ever overcome his fears

and consider following in charlie's

footsteps by having a potentially

life-enhancing procedure

[Music]

seventeen-year-old john was born with

the life-threatening disease

eb which affects the whole body inside

and out i can't do things normal kids

usually can do

i can't walk really so

and since my skin's so fragile i can't

play any sport

there's just too many things that i

can't do that i wish i could do

probably bothers me more than him when i

see his classmates going to prom and

having their girlfriends and doing all

that

and he just isn't able to do that

the condition impacts every aspect of

his daily life

goes right into his gastronomy tube it

clicks in

and then you're able to give food water

medications whatever is needed

his skin requires meticulous attention

bathing and bandaging takes around four

hours

every night ready yeah

he takes pain relief medication

throughout the day

it takes a half hour maybe 45 minutes at

most

for the painkillers to kick in and it's

fine when it comes to his skin disorder

and medical he's way more grown up than

any kid his age should have to be

doing this for 17 years and we probably

use

about 30 bandages a day these are a box

of five and they're

probably 150 to 200 for one box

i would guess three to five thousand

dollars a month

in just dressings it's quite a bit of

money

i don't know what i would do if i didn't

have insurance

coverage it would be very difficult

just a progressive disorder it just

seems like the older it gets

the worse it gets every now and again

he'll

say some difficult things like why does

it have to be me

but he wants to get out he wants to he

doesn't want to just sit in his room all

day and do nothing

for the rest of his life so he wants to

and and we'll find a way to make it

happen

in spite of his condition john is

graduating from high school in two

months time

and is making plans for his future

my dream job would be working just with

animals or something

so at least i can get out of the house

once in a while and not just watching

youtube all day

hey how's the one working today

come to me so there's two donkeys in

there two mini donkeys

and there's too many horses that's what

i thought that'd be the perfect horse

for me

yes it would

i love working with all the animals i

could even help with education

that could be a possibility too i'm

gonna show you how we make

diets um if you want you can help me all

right um

figure it out you can put six of those

in this bag

yep this is just dog crunchies that's

what they look like

yep this is someone new

it's okay i work here for the day it's

okay you can trust me

your very cute face for alpaca

we don't speak especially

it's so beautiful to look out just

seeing how they play and stuff

they're remarkable animals you want to

hang out right there yep

he i think he's having trouble there we

go

why is his water jerky yep he usually

goes to the bathroom in it

should we refill it for him oh

really wish i wasn't that close good

we're coming to give you food how do you

turn it on

you just lift this of course i got it

hey you very exciting day

feeding all the animals just taking a

look at how the job is done i would like

this job

it did make a little bit of a difference

just knowing i could do something

so knowing i'm one step to getting a job

so that's pretty exciting

[Music]

while john is just managing his eb

charlie is reaping the benefits from

groundbreaking new therapies

there how's that good okay now let's get

this done

i love my mom mom and galaxy

she's really caring and loving

she's everything

in the mom you need

the process of doing this previously

was so meticulous i mean we had to

sedate him to even put bandages on him

because it was that traumatic and that

painful

you know previously his skin was so

fragile it just melted right off his

body i mean it would just

if you grabbed his hand too hard you

could just glove his entire hand that's

how

fragile he was you know getting into a

bathtub

with just nothing but dermis showing and

you can imagine the water hitting that

it was like acid hitting his wounds and

he would scream and shake

and after his transplant he never ever

did that again you know it was like

science fiction watching his skin change

and considering that he has the worst

form of recessive dystrophic eb he's

doing pretty darn good

leading the charge in the fight against

eb is charlie's surgeon dr jacob tolo

charlie is one of the best my first

encounter with them was

uh defining for me anyway because he bit

me

in in the in the exam room he was so

outside of his mind with pain and we

knew

that he's gonna do very poorly if we

don't do something quick

and he has been for many years now

deriving phenomenal benefits from

the bone marrow transplant dr tolar

is a really good dude he helped me a lot

in life

the transplant was not something

easy but they managed

to do it now i'm able to

eat a ton of things like pizza

you want something yeah

he made me just fully

become myself there's nothing

in what we have done that is miraculous

this

is an outcome of a solid

methodological laboratory work

we deconstructed the problem we put the

pieces together

we figured out how it is possible to

approach this

that's why these kids are better charlie

has greatly benefited from the

transplant treatment

but at present he still has this

incurable disease i know that a cure for

eb

is going to come out of the university

of minnesota and dr tolar dr jacob tolar

is

going to be going to be the man that

does it

unlike charlie john tries to avoid any

medical intervention

especially after a routine procedure

last year didn't go to plan

my last thought operation they couldn't

get the breathing tube down my

throat my lung collapsed which is

never good because that means you're

kind of half dying

so they try to get me up and they're

still going and

i guess my other lung starts to collapse

it doesn't fully collapse it starts to

so then they stop

then they stop and i was under oxygen my

i i had trouble

breathing i i almost died pretty much

was the fact i almost died i had your

death experience

i thought this was a way of the world

showing me this is

it i was ready to give up

in hospital john came across a story

that would become a source of

inspiration pulling him through his

darkest days

winter is the most famous dolphin if you

can kind of notice

on her tail there's like no fin see it

she has a prosthetic that she wears

she's so cute and

just knowing she never gave up made me

think i can't give up

i can't so i never gave up

put it lower put it lower just put it a

little lower

yeah right there that looks good that

looks very good

winter's story meant so much to john

that he now fundraises for the marine

hospital that saved her

our goal is to reach 200 for clearwater

marine aquarium

so they can expand the medical and

technology they need to give

winter and her friends a better life you

guys ready to donate stay tuned

donations

right here donations thank you very much

his thing again right now is under the

dolphin um

he he watched it and then it was just

like has consumed his life

he wants to do whatever he can to help

he had me

send in money so that he could adopt her

for a year

he just looks at her and says wow they

had no hope they thought oh

we can't do anything a dolphin with no

tail

um they're not gonna be able to swim

she's gonna get probably depressed she's

and she's just gonna give up but she

didn't give up i guess

she's just become an inspiration to him

would you guys like to donate you know

he's worried he's like oh i want to get

down there and see her before anything

happens to her or me

um thinking almost a hundred dollars our

goal is 200 so we're

pretty much halfway there thank you very

much do you want to take a selfie with

the stuff

my geez it's like the leprechaun's pots

of gold at the end of the rainbow right

i feel like i should be giving back to

her

because of how much she inspired me just

by watching her on tv

screen and that's why i like to meet her

so i could just say thank you

a bunch to her

though winter the dolphin helped john

get through a difficult time last year

he is still anxious about any form of

medical intervention

his next round of surgery is to expand

his esophagus

which has been closing up restricting

his breathing

hi good afternoon hi i'm susie ashton

i'm one of the nurse practitioners

hi jonathan how are you today before the

procedure can begin

the hospital needs to be aware of all

john's medications

do you have a lot of pain yeah but

that's part of the disorder

yeah i have quite a list of medications

here most of the medication he's honest

for pain

using the lidocaine gel oxycodone

it's a long list i'm always nervous when

he goes to surgery

especially this past summer when the

doctor came out and said oh well his

lung collapsed we had to stop the

surgery

i think he just hasn't been really

talking about it because he if he

doesn't talk about it maybe it's not

going to happen

brenda hopes her son can overcome his

deep-seated fear of surgery

so that one day he might consider

treatment rather than just management of

his eb

maybe someday he can live without pain

and wounds

and have somewhat of a normal life hey

how you doing i'm nervous understandably

so

i just don't want things to go like they

did last time you don't think

something's working and you think

something's going wrong

please stop yeah and that's what we do

sooner like no like sooner like don't

keep trying take a while first

for everything

as a mom probably the hardest part about

this disorder

i can't make it better

if john can get his confidence back and

would consider

undergoing the bone marrow transplant

the results could be life-changing

we need one to go right and perfect and

then he'll have a little more confidence

in the doctors and

that he can still have these things done

with

not a ton of trauma

love we'll take care of him

john is in hospital having surgery to

widen his throat cavity

when his throat starts to close up he

has more trouble swallowing like saliva

water

and then he has to spit it out he just

can't everything just

collects in his mouth he's had this done

at least 10 to 12 times

the last time he had this procedure

there were near fatal complications

he's very nervous about it because last

time it was scary

[Music]

and now every time it's like okay is

this going to happen again

well that's where the structure is

that's c6 so that's almost

the plan is to push rods down john's

throat

in order to open it up there's um stiff

dilators that go down and the potato are

tapered and so they

kind of sequentially open up the

[Music]

structure

the hard part was trying to get into the

lumen of the esophagus or the opening

uh because it's very tight so now come

the part where we try and dilate open

that structure

[Music]

this was about as smooth as we could

expected it's okay honey

okay yep okay all right

[Music]

let's make sure we have the dolphin

there'll be hell to pay if we don't have

the dolphin

the procedure has been a success it's an

enormous relief for john and his mum

brenda

who hopes that his anxiety around future

surgery

might be lessened hi hey

go home get some rest right

[Music]

after john's surgery went smoothly

brenda is hoping she'll finally be able

to revisit a conversation they had

10 years ago about him having a

potentially life enhancing bone marrow

transplant

so when we first talked about the thing

dr tollers was doing in

minnesota was many many years ago

you remember that yes that was where you

said it was like a 50-50 chance

that's when we were just learning about

it we didn't know too much about it

the way medicine is you know it always

has advances so

you know 10 years later i think he's

tweaked things here and there

to know okay what works better what

doesn't

i'd hate for you to to decide something

that would actually make a big impact

just because you don't know what it is

right so you need to know what it is

first

so how do you feel about going and

seeing dr toller i'm all right with

seeing him i'm not okay with scheduling

a surgery for him

do you have any specific questions you

want to ask him not off the top of my

head because i really haven't thought

about it so

you can ask him what the rests are and i

think it's a good time to meet him

because i think

you're taking more charge of your your

disorder a little bit

more i think now that you're older and

wanting to make

the decisions and and just i just want

to try to help you

get the information so you make

not maybe the right decision but no but

at least

a decision i think is what you're trying

to say

i would like to know like kids that had

it done how are they doing now what did

it fix what did it not

fix get more details from yeah exactly

how it works

that would be fine like i said i'll

agree to meeting him and asking him

questions about it and like

seeing how or hearing how it's done i

don't agree to do it that's one

right it's better to have all the

information before you before you make a

decision well i'm never gonna do this

because of whatever i'd like to guide

you in the right way

if i can

john is considering the bone marrow

transplant which 11 year old charlie

underwent

five years ago hey do you want to play

superheroes and bad guys in real life

yeah

he loves his family he loves his life

he's positive about his future you know

he just wants to be a regular kid

that's all he wants

he could definitely wallow in his

suffering and he doesn't

does not do that he wants to play and

when he plays he forgets about pain

zachary is in school

he's seven he loves to play with me but

he's

really into guns

[Music]

we're far more relaxed we don't have to

constantly protect him he can be

more independent he can play with a

group of friends

we're not going to worry about some

child you know

stepping on his foot and tearing all the

skin off his foot

trisha has embraced every trial and

treatment to counter charlie's eb

and improve his quality of life i want

people to understand that this is not a

disease of

the skin it affects inside out and i

believe that

treating this disorder systematically

will you can do it i'll help you

charlie has recently undergone hand

reconstruction surgery

as scar tissue had fused his fingers

together my hands were

curled up i have titanium rods

in my fingers right now

to keep them straight and it's actually

inside the bone it's a little painful

but i've gotten

more painful things in my life

he's been in this contraption now for

it'll be a month

i think next week and the hope is that

we'll be able to remove those rods and

you know heal his hands and he'll have

full

use of his hands again hey can you put

this guy

on my car yes that soldier

we're doing it and

a week from now here come out the middle

rods

there might be a little blood here and

there

but it's fine these kids

what they go through and what they

endure is just unimaginable to most

people

[Music]

when he was close to death last year

john was inspired by the survival story

of a young dolphin

that was critically injured after

becoming trapped in fishing lines

since then he has been fundraising for

the marine hospital that looks after her

can you hear me this is brenda

hi brenda how are you doing good how are

you

i'm doing great nice to talk to you guys

and jonathan's here too

this is uh john

why is your name sound familiar well i

am the uh director at clearwater marine

aquarium have you heard of

clearwater wing aquarium before i have

your facebook and everything i've been

doing a fundraiser at school how did you

get her number

well who knows funny things happen so uh

people talk and your story kind of gets

out and uh

so by the way yeah tell me about your

fundraising i hear you actually

fundraising for

clearwater aquariums how's that uh

we're almost halfway to our goal is to

reach 200

for you guys wow that is really

really cool and that says a lot about

the kind of young man you are

i understand that you watched either the

dolphin tail movie

they actually got me through the summer

i was in the hospital this summer

i had a bunch of surgeries and she was

the only thing that kept me going

so i'd i'd like to invite you and your

family down

to tell me winter

as our guest and get a chance to meet

the dolphin that inspired you

can we do that that would be amazing

that would be awesome

i am so glad oh my god

all right then thank you very much i

can't explain how happy i am right now

my heart was racing when i heard his

voice i'm like this is not a dream

you just got a call from like the head

of clear yeah he's the head of the

clearwater he's the one who's in the

video he wants you to come down and meet

winter

and hope on saturday

catch me please i can't find

what the heck just happened here

i hope if he does get to meet winter

that

it does give him more inspiration and

more fight and okay

you know this is what i gotta do i'm

just gonna do it that's it

and you know i think a lot of

this disorder is just your will to fight

and your will to want to live

before john's trip to florida to meet

winter brenda has brought him to

minneapolis to see dr tola

in the hope that her son might consider

his pioneering eb

treatment hi jonathan how are you

for the first time ever john is meeting

someone who could extend

and improve his life beyond all measure

so

uh what i'd like to do today is to

talk with you right and see if there's

anything that i can help with

one night skill is what this does

or what involves the social information

so this is basically what a normal skin

looks like you know this is the

the top part of the skin and this here

are three molecules of the type seven

collagen together

this is what you don't have that's what

i don't have yeah that's exactly right

if you replace just that one missing

protein you will

allow the skin you know that's just fine

all together

to regenerate that's a good word

actually regenerate you know in a way

that a skin normally would grow i have

more than uh

30 people with transplant that i that

i've transplanted for eb

for the kind that you have and majority

of them

have gotten much much better okay not

all of them

because some of them died some of them

died because of the transplant itself

yeah that's the thing that kind of i

know i know most of the children that

were not able to live through this

were the one at the very beginning when

we didn't know

all the things that we know now you get

unfiltered

honestly from me okay this is way too

serious and for you to travel here

for me to tell you something that's not

that's perfect truth you know it's

like a rest taker pretty much yeah there

is of course there is risk

but i there is you know and being alive

with

a recessive dystrophic eb is risky it's

incredibly risky

so so so you balance these risks you

know obviously yeah

is it this but a possible death or do

you live with this olympia

it's much much safer and the the last i

think 12

or 13 are alive you know with you know

with the transplant and actually have

done very well

do you notice a difference how you used

to do it at the beginning and how

how the results are different this is a

lot more advanced than i think

what i was reading when you first

started do you still see these people

to make sure they're still doing okay

yeah i see them

every year i see every single person

here you have to check

it's not a bad thing to be fresh in

something all right all right thank you

very much

very very thank you so much yes big

honor

you're very welcome okay that was very

good you glad you came now

yeah i mean he's showing you results and

i know you don't like to see these

pictures yeah

but look at the difference i see this

and it gives me hope hopefully

like your hope gives us more inspiration

tomorrow if this worked

there would not be a little expectancy

issue i don't know

awesome the biggest thing you get out of

this is

you may live longer than me

and be able to maybe have a somewhat

normal life

i don't think i would ever have a normal

life you never know if

if well it's something to think about

it's definitely something

and think of one thing the pain would be

gone not fully god it would still be

there

you might have to make some pains but

you wouldn't have the pain you have now

i wouldn't be somewhere and

maybe we'd actually be able to do that

but hey this is awesome yeah i kind of

lost hope for a while this gives me

before traveling to florida john has

come to meet charlie to see firsthand

what dr

tolar's groundbreaking treatment could

do for him

now it's gonna be awesome here is a cool

kid

can't wait to do cool stuff with him

hi

careful people hi my name is john nice

to meet you charlie how you doing

have you ever been here yeah

i this is my first time here i walk in i

see a roller coaster in the background

i was like why would you build this

bone marrow transplant how's your skin

from it

is it okay

oh that's pretty good it's very strong

see down here on your leg it looks

pretty strong there

yeah where my legs down there are a mess

your skin gets better it gets stronger

would you recommend it i don't know that

i'm gonna

recommend it to people i could tell you

our experience

if if we had to do it all over again for

charlie we would do it again

it's changed his life and it's been

worth it it had some pictures how his

skin looked

looked amazing so uh

it's definitely something i might

consider so

very informative i got a lot to think

about over the next

couple months two years to come

it feels like the rainforest in here

[Music]

jonathan and him were really good

together john was like his

big brother and uh isis i don't know if

you like icy

can we try one of those please that'd be

awesome

no for him i bet i realize he's sassy

and stuff just like me keep it going

charlie

hey my bad

dull bear transplant like it's risky

and i just don't want anything to go

wrong i have been looking for him

everywhere i felt like everybody

so we'll figure that out when the

time comes thank you very much

it's the next day and charlie and his

parents are meeting dr tolar

to discuss the progress of his hand

reconstruction surgery

how are you going to test them

oh 10 nerf guns yes i think my hands

will be pretty busy

mom trisha is delighted with the

progress charlie has made

but she lives in hope that one day her

son might be rid of the disease

entirely of course i'm going to ask you

know i know this year there are going to

be some clinical trials in the us

using gene editing yep and

i also understand that if those are

successful

then most likely then other clinical

trials will follow gene editing is one

where we can

take out that single letter in the three

billion

that we have in each cell that one that

causes the type 7 collagen to

malfunction

and we replace it with a healthy one the

first

really despite what everybody wants you

know is safety

right it's really i want to show that

this can be safely

used also we basically need somebody to

step in

and then fund it i'm always trying to

think of where that funding can come

from and you know how

us families can help make that happen

faster because obviously

you know every day that goes by is just

a ticking clock you know um exactly

time is the most valuable thing we have

and

and when i watched charlie's skin change

from his transplant it was so

incredibly dramatic i mean it took my

breath away as i watched it happen

and i so badly want to see that happen

again

but we are on the right track i know i

know my dreams for charlie

are that he will benefit from genome

editing

that um he will be part of a cure for eb

or at least a real treatment that you

know

drastically reduces the severity of the

disorder before they leave charlie has

asked whether he could see his

own harvested cells in the lab

[Music]

dr tolar has used the gene editing

technique to reconfigure the dna in

charlie's cells

in effect removing the eb so we're gonna

look now

at the real thing there are not very

many people who have seen this

if funded a clinical trial would see

these cells being put back into

charlie's body

our aim is to take that corrected cell

amplify it through a stem cell stage

and then design a live

supply of cells for that person

that she or he can use for the rest of

their lives

i want him to have a full life and be

able to

you know go to school and have a future

after school you know go on to college i

want him to be independent

tackling genome editing to actually cure

the disease from the inside out

it's changed our lives because we

believe that there's hope now

ourselves with caution because you are

awesome you know

every bit of you is awesome what did we

have to believe before that that some

cream is maybe going to stop charlie

from itching i don't care about that

you know that's that's not going to give

us hope

john has made the journey to florida to

the clearwater marine hospital

home of winter the tailless dolphin

[Music]

some photos in front of the green screen

before you get started

[Music]

it's a dream come true for john meeting

the dolphin that helped him through the

most difficult period of his life

he and john actually speechless for once

was amazing he's never speechless

[Music]

can do that or if it's more comfortable

you can sit on that ledge whatever's

[Music]

[Music]

comfortable

okay what we're going to have you do is

winter's going to sit right up in front

of you

and you're going to be your trainer okay

so what i want you to do is put your

hands up like this up in the air

and you're going to sway back and forth

from side to side well she's gonna

follow you

this is very nice i love this

[Music]

it's hard to see kids go through what

they go through and still be

so happy in life is is the the happiness

is i guess the only silver lining around

the whole thing

i keep everything in life from

falling apart and going downhill with

happy socks

i got a lot to think about over the next

couple months

my dream is that for these children

like charlie like jonathan eb

and related disorders will go the same

way

tuberculosis went who knows about tv

today

the only thing stopping a clinical trial

from happening and the only thing

that's making my child and other

children wait for relief

is funding for a clinical trial it's not

even about the research anymore all we

need is the money is to make it happen

and you know if we had the money we

could start tomorrow

if i decide to get the surgery we'll let

you know

and now let's end this documentary right

[Music]

you