Mystery Diagnosis (OWN) - Hermansky Pudlak Syndrome - Part 1 of 2 - "The Girl with No Bowel"

[ZhenChan365]

@servingthealiens if u a human albino, you can have either light blue eyes or red eyes.

[tommytillman]

@ZhenChan365 "Karen has the HPS form of albinism which means the eye color can range from pink,to blue to brown. In ocular albinism eyes are blue to brown. But with oculocataneous it is more like what you see with bunnies and mice, which is pink eyes and white skin, also found in humans with that type of albinism. For more information check out the National Organization for Albinism and Hypopigmentation's website.

[TheFoxandTheRabbit]

i think shes very pretty. and was a cute baby and child

[tommytillman]

@TheFoxandTheRabbit Yes, they both (Karen and Holly) were and still are!

[ImaBearXD]

the beginning scared the hell otta me... :O

[tommytillman]

@ImaBearXD Imagine how Karen and her family felt !!

[tommytillman]

@ImaBearXD Imagine how Karen and her family felt.

[ImaBearXD]

@tommytillman Gosh I know :o I hate terrible diseases they ruin peoples lives! >:o

[GaaraBabyEater]

I'm legally blind and every time I try to see something 20 feet away, I'm like "WTF am I reading!?"

[smoshlovingdragon]

The father looks like Cotton Hill.

[tommytillman]

@smoshlovingdragon "Not so sure if that is a good thing or a bad thing......????...." grin....

[smoshlovingdragon]

@tommytillman Her father not you haha

I think its cool

[tommytillman]

@fot6802 Karen said "Thank you for watching... and we had a good time at the location you reserved... it was very nice!!!" ...... and the cupcake was delicous !!!

[decaboy17]

thats very brave from her..and thats good she have a people that shares her life:)

[tommytillman]

@decaboy17 Thank you for the kinds words!

[XxXxpinkprincess]

my uncle has this..



[tommytillman]

@XxXxpinkprincess Pulmonary Fibrosis or HPS ?

[JoeFanatic01]

lol she has to ask to take a bath?

[accordingtolive]

So refreshing to see couples together who don't run from discovering medical differences & are willing to care for each other

[tommytillman]

@accordingtolive "We were never promised a rose garden in life..... you have to take the bad with the good... and enjoy the good when it comes"... Thanks for the kind words!

[Dopestarslove]

Awww Tommy you are so sweet!

[tommytillman]

@Dopestarslove "Wow...."... blushing.....  Thanks!

[chicagogurl1000]

@animelovergal2002

[servingthealiens]

How is she an albino?  Her eyes aren't red.

[AGproductions99]

@servingthealiens albinos dont always have red eyes. in fact theirs a little boy whos albino that lives near me that has the most beautiful blue green eyes

[Beauty4Aspies]

@servingthealiens Not all albinos have red eyes. She only has enough melanin to make her eyes blue. The albinos whose eyes are red have a co-morbidity known as amelanism meaning having absolutely no pigment at all.

[tommytillman]

@Beauty4Aspies Karen said "They would be red if you flashed a light into them.... like a flash from a camera... the picture would show red eyes. They transalumanate the light. And my eyes are hazel, by the way!"  It is a common myth that all albinos have red eyes... pigment varies dependning upon the type of albinism.

w w w . albinism . o r g / faq / p w a . h t m l and click on What exactly is albinism ? Then medical details.....

[mskittykat1101]

Kids were pretty cruel back then... I have a little bit of hope for humanity since kids are more understanding of genetic and physical handicaps and I've worked in the school system, the kids help out each other without judging and being mean

[mermaidmelody305]

@tommytillman holly's my name! =D

[tommytillman]

@mermaidmelody305 It's a Great Name !!

[CosmicFroggie]

@mermaidmelodyWho cares???

[Butterflysin]

@mermaidmelody305 Mine too!

[7ABIBIintaalbi]

I have a friend with albinism, it really sucks.

[Luvme4evaful]

WOAH THE BABY IS 1YEAR AND 1ONE DAY OLDER THAN ME!

[tommytillman]

@Luvme4evaful And now the baby is 23 !!!

[bandgeekalways]

@Luvme4evaful lol the baby was born one day after I was...but I'm only 21 =D

[MsDeidara1234]

@Luvme4evaful Your born the same day i am :P

[84asho]

Tommy and Karen, I wish you both the very best in health and happiness. Your story and love for eachother is inspirational!

[tommytillman]

@84asho "Thank you!!!"

[bbbsmiles]

Your daughter is absolutely gorgeous, you three make a very beautiful family :) I wish your wife luck in her journey with this disease. Take care.

[tommytillman]

@bbbsmiles Thanks a bunch!!!

[artemaso]

YOU GUYS ROCK, TELL KAREN I SAID HI, i will become a doctor soon and will help everybody that needs me.

[tommytillman]

@artemaso That sounds great! Keep up the good work.... and Karen says "Hey!"

[SamanthaP100000]

Would You Believe This Series Helped Me Alot In Biology Class, But The Stories Are Really Sad.

[tommytillman]

@SamanthaP100000 Karen said "Awwwwwwww........"

[NickTheCola]

Wait a minute, are you Karen's husband? the poster of the video? If so, That's awesome!! It's great to know that you care so much for your wife. Everyone should be as loving and understanding as you are.

[tommytillman]

@NickTheCola Yeah, that is me in the video. I am the lucky one, married to such a wonderful girl as Karen!!!

[jherrman1987]

laaif is laaik a box of tjokolates

[TheBabyBrickChannel]

@Azurewolf02 i agree poor girl :(

[ItsIzzyx3]

I love this one! I was like AWWWWWWW throughout the whole college story! <3

[tommytillman]

@ItsIzzyx3 It was AWWWWWWWWWWWWWWWWWW when she said she would go out with me on the 1st date !!!

[Azurewolf02]

Poor girl :(

[skateboardfreak0098]

i feel sorry for her

[singingstudio05]

august 27th is my birthday :D

[tommytillman]

@singingstudio05 It took me awhile for it to sink in the reference..... Holly's birthday!!!

"Doooohhhhhhhhhhhhhhh".... (smacking my head....) !!!!

[BritaniaANDPrussia]

I am so happy for her and tommy! The healthiest medicine I know is some love.

[tommytillman]

@BritaniaANDPrussia "That is very very true.... that and laughter"... Karen

[TheEvilBunny1000]

I was so touched, and i luv ths show and even tho, im 12

[tommytillman]

@TheEvilBunny1000 Karen said "Aaawwwwwwwwww" when I told her what you said..... !

[ellethekitty]

I enjoyed this episode!

[tommytillman]

@ellethekitty Don't forget to watch Part 2...

[ellethekitty]

@tommytillman oh yes, I watched part two. i just came here to comment. Thanks for uploading it.

[tommytillman]

@ellethekitty You're welcome!

[preetymonster421]

why did you have to put the diagnosis in the title...thats the whole point of watching this show...for the suspense of the what the diagnosis is...im addicted to the show and im only 11

[tommytillman]

@preetymonster421 It was placed in the title in hopes that someone with HPS would find the episode and have hope.



Glad you are watching Mystery Diagnosis..... one of the better shows on TV !

[Super2Awesome400]

Wow my dad had the same problem and was dead for 15 seconds because of it

[tommytillman]

@Super2Awesome400 Hope he is now doing better !

[42JohnnySmith]

Tom you are amazing. You have been so strong for her. :)

[tommytillman]

@42JohnnySmith Thank you. She is my inspiration.

[123sweetgigimusic]

by her personality, she sounds like an nice person. :) it's not funny, when people need to wear glasses in order to see.

[tommytillman]

@123sweetgigimusic Karen said "Aawwwwww....."....  she is really a very nice person and has LOTS of friends.... too many to count!!!

[123sweetgigimusic]

i would of been her friend, i don't have much friends myself, i've been teased to.

but i didn't care what others think about me, because i believe i'm beautiful just the way you are. same goes for others.

[rosewaterfallprod]

Poor Karen... I wanted to cry when she started to bleed... I also have a friend who is in the hospital but with Chron's disease which is what they misdiagnosed Karen with. This is just terrible what can happen to people...

[tommytillman]

@rosewaterfallprod Karen said "I hope your friend is better soon."

[IlikeFoodnDrink]

Well atleast there can be a way to cope with it.

[tommytillman]

@uhohwhoops This is part 1 of 2. At the beginning and end of the video is a link to part (just click on the link when it appears at the beginning or end). Thanks

[kearagreen22]

P.s when she had cramps or pains I thought she got her period

[tommytillman]

@kearagreen22 Well, those were from the ulcers in her intestines.... however she did have servere cramping and bleeding from her periods too. They didn't have time to show that on the show.

[kearagreen22]

I would have been her friend it doesn't matter about size glasses so I have glasses are they going to make fun of me I know they are

[tommytillman]

@kearagreen22 Thank you!

[1776PatriotTeen]

Seriously.....I hate how these women are always like....."Oh my God, am I going to be able to reproduce?" Honestly they need to shut the fuck up. One, you're worry about all that shit when you should be focused on your problem currently. Two, why would you bring a child into this world with the same "shitty", pun intended, disease? I would give her a restraining order for reproducing so that no offspring would suffer the same thing.

[tommytillman]

@1776PatriotTeen 3 - We should not stand in judgement of those who want to have children. Karen is not regretful that she is here with the disease.... being born with this disease has made a stronger and better person.

[tommytillman]

@1776PatriotTeen 1st - We didn't know that Karen had HPS when Holly was conceived.... if you noticed... shs was pregnant years before being diagnosed with HPS. 2 - Even if we knew about the HPS, it is autosomal recessive... so the chance of Karen marrying someone that is a carrier is a very low probablility....

[babyjlo0922]

OMG!!!! I would have freaked out if I saw all that blood... Poor woman... My sister in law has IBS and it is really bad when she has flare ups...

[amber12345678999]

love this show! love learning about really rare syndromes. it's interesting and shows people aren't always hypochondriacs!

[MeowcatBissy]

The dad is so cute

[tommytillman]

@MeowcatBissy I hope you were talking about MEEEEEEeeeeeeeeeeeeeee !!!! (grin hahahahahah).. I assume you are talking about Karen's dad.... we all think he is cute too !!!

[MissMaddy881]

i miss discovery health.

[118Awesomeness]

i like her last name.TICKLE.

[lovebug7891]

She looks way older than she is

[ObscurityMiss86]

@lovebug7891 You would too if you had been through as much as she has.

[KetchupAndMustard55]

considering her last name, she is scared and is not TICKLED in the least

[animelovergal2002]

This is my favorite Medical series.

Anytime they talk about medical stuff in the media, I might already now alot about it, thanks to this series. ~ My sis says I shall go into the medical field since I can't get enough of watching this series and more, then researching it online and take my own notes

[tommytillman]

@animelovergal2002 I say go for it !! And someday YOU might be the one to find a cure for these diseases !!!

[hubbabubbarubbalubba]

@animelovergal2002 If you ever get into a medical career, don't do it for the money. We got too many of those folks out there just doing it for the money and not caring shit for their patients.

[animelovergal2002]

@hubbabubbarubbalubba

Everytime I see a child with a medical history, I feel sorry for them, and wish god could send an angel down from heaven to help cure these kids and adults with fatal disease. ~ It like living in HELL with all these medical conditions appearing out of no where. I don't care about the money and I think no one shall either, its all about helping to cure patients. ~ If I become a doctor if Graphic Design doesn't work out for me, I will try to be the best doc in this world.

[naenaebabii21]

omgg i have crohn's disease... omg i went through so much when i was being diagnosed. i had about 3 misdiagnosis before i had crohn's. the pain is terrible and you just dont remember things. wow as she was talking i just thought of myself. i hav not hurd anybody talk about it like that . i know she realli didnt hav it lik that buh i had all those symptoms. can you imagine deficating blood. omg ! the worst. im so happy that she got better and is living a full life with what she has.

[tommytillman]

@naenaebabii21 Dear naenaebabii21, What you saw in the video is very much how it was. Especially due to the Hermansky Pudlak Syndrome. The only thing that isn't quite true is that after the first ostomy surgery my life with Crohn's (IBD due to HPS) was over. It was for many years dormant, but in my late 20's I wound up having 2 more ostomy resections due to horrible bloody flares, and almost dying a few times. I am now in my 40;s and

[tommytillman]

@naenaebabli21 cont. from above or below not sure where this will show up! grin and still have flares, but nothing like year's past thanks to Humira. Just know I feel your pain, and wish you well on your journey with Crohn's as it can be so vicous. As for a full life, I keep busy with volunteer work as I am no longer able to work consistantly for pay, and choose to be happy with what I have knowing God will see me through. Love Karen Tillman

[MissMaddy881]

@naenaebabii21 i graduated high school with a girl who has that. also, my parents' next door neighbor has the disease. i hope you're doing ok. how old are you?

[auroraborealisrox]

I LOVE THIS SHOW!!!!!!!!!! The stories are amazing, what people have been through. I hate the doctors that ignore them or dismiss it as "in their head" I am very interested in this stuff (though im only 11) and i want to get a medical career someday.

[tommytillman]

@auroraborealisrox That sounds GREAT ! We know you can make those dreams come true!!!

[MrSpeedMachine14]

@auroraborealisrox That's my story!! =)))

[shishagoddess]

An amazing love story. What a strong beautiful woman!

[tommytillman]

@shishagoddess She sure is !!!

[msnoahxlukefan]

hi tommy i love ur family!! its seems so nice!! i hope ur wife is ok

[tommytillman]

@msnoahxlukefan Thank you ! I love em too!! And Karen is doing OK at the present time. Thanks for asking!

[billy3908]

I almost cried.......I mean i was totally crying

[tommytillman]

@billy3908 Karen said "Awwwwwww.... thank you for your kind words!"

[DemianHermann]

Life is just a balance of the positive and negative, pleasure and pain. Seek the truth to live in harmony with the balance. Search Truth Contest in google and read The Present on the homepage.

[buddflicks]

Omg that bloody bathtub part creeped me

[Jaso4444]

scary...

[emoelmo1419]

I know someone with that disease and they also had to get that surgery because they had passed out in their bathroom at school and their friend was with her and brought her to the office they said that If here friend wasn't there she would have died...

[tommytillman]

@emoelmo1419 I am glad she was able to get the help in time and that she will continue to do well.

[emoelmo1419]

The person who said the YouTube account persons name is the same as her husbands is because this is her husbands account...

[BloodGutsGoreLover]

@LittleSisterMonster You may actually be having colon spasms. My mother gets them and so do I. I get them rarely, but when I do they're debilitating.

[shoecat42]

kids at school are always such jerks....

[88Madison88]

@LittleSisterMonster OMG! i know how you feel with the stomach pains! one time I was so constipated that I had to go to the ER! I couldnt even walk! It was the most painful thing I have faced in my entire life! There was SO much blood but i'm doing fine now. if you came to the hospital with those pains and I was an ER doctor, I would monitor you and let you stay at night so I could try to find the diagnosis. But thats just me. :) LOL!

PRAYING FOR YOU!

Maddie xoxo

[hollyzone]

Good to know the human spirit is alive and well!

[tommytillman]

Holly is a popular name.... and you are into Anime, like my daughter too!

[The2012girl]

Heh. Your daughter and I have the same name.

[YoutuJ3eJ3lows]

Ahaha, the girl's boyfriend/husband's name is Tommy, just like your YouTube name. ^_^

[umnachtet]

@LittleSisterMonster That actually sounds like it could be a hepatic porphyria. Have you been checked for porphyria?

[EagleMarine2012]

shes albino

[montanerfan10]

@EagleMarine2012 Yes, and that's the main symptom of hermansky pudlak syndrome. If you have HPS, you're albino.

[alexandriawilliam]

this is a good video love it sooooooooooooooooooo much

[alexandriawilliam]

this is a good video

[izdun11]

OMG!!!!!!!!! :''(

[tommytillman]

@LittleSisterMonster Hopefully someday they can find the actual cause and properly treat it, if possible. Praying for you!

[tommytillman]

@LittleSisterMonster Have they diagnosed the cause of the stomach attacks?

[reidrules45]

How come no wanted to play with her?

[tommytillman]

@reidrules45 Because kids are that way. You may have a few that will go against the grain and play with anyone, but most won't.

So, what goes around, comes around. I'm glad she is VERY POPULAR now and has MANY friends all around the WORLD!!

[frenchfrieperson1]

wait soo let me get this straight she got potty trained for notihng?

[tommytillman]

@frenchfrieperson1 Yup. But she retrained herself and now empties from the bag on the front of her belly. She does just fine!

[lunarfoxie]

i had blood in the bathtub, but it was just my leg from my shaver razor thing that cut me when i was shaving hahaha

[skiracer110]

Ive noticed that mystery diagnosis likes to get the shot as the people are closing thier eyes.

[tommytillman]

@skiracer110 That's a standard shot they use in this show. They have used it for a long time.

[lennic95]

@skiracer110 Albinos have to close their eyes a bit more to block light, but since she's legally blind it adds to it.

[pashun88]

@skiracer110 I've noticed that as well, and not both eyes either. Just one.

[raoorz]

She went through a lot i'm glad she stayed strong :)

[tommytillman]

@raoorz Me too!

[MrsTwilightAddict18]

I really love this show. I like how it showcases people with rare syndromes instead of all-american, "normal" people. It's really interesting because the cases mentioned all have symptoms that overlap with common diseases and the creators seek real people, instead of hiring actors. Also, I'm a medical student, and there hasn't been anything on this syndrome in my class. I'm really grateful to the uploader; I love learning about diseases/syndromes like this.

[tommytillman]

@jbjustinlovsme Karen said "honestly, it was a tough thing to deal with... but having been sick so long that the benefits of feeling well outweighed the embarassment of it".

[tommytillman]

No, the color varies in Albinism. Howerver, if you shine a light on the side of her eyes it will translumanate pink. Check out noah dot org for more details on albinism.

[TheMibs56]

if you have albanism arent you suposed tohave really light colored eyes?

[MrsTwilightAddict18]

@TheMibs56 It would seem so from the known fact that albinos lack the genes that give color to the skin and hair, but most albinos do have light/medium blue eyes.

[tommytillman]

@lovehamsters14 Well, I might get in trouble for that! Just watch the Discovery Health channel.... they have old and new episodes of Mystery Diagnosis on weekly most of the time !

[TashaRichardsonFan]

Poor Karen:( 

[eunicedalie]

Of course!! And I'm sharing these videos with all my friends and with my uncle who is albino too but apparently he doesn't have HPS he's 54 and he's strong as a tree!! He'll share this video with his friends too!

[eunicedalie]

Thank you so much for uploading this! My mom had HPS and she passed away 12 years ago, she was only 42 when she died. Now I have 2 nephews with albinism and they haven't been test it yet...

Karen reminds me so much of my mommy.... tears came out of me... God bless her and her family!! I wish they find a cure to this awful decease.

[tommytillman]

@eunicedalie Thanks for the kind words. Tears come out when I watch the video, especially then last part of it.....

Would you like to FAVORITE the 2 videos so others might have a chance to see them? The more people who see it, the more people who have HPS might become aware of their disease, and can help in finding a cure for it.

[montanerfan10]

Yay! You  uploaded to HPS episode!

[tommytillman]

@montanerfan10 Thanks!

[montanerfan10]

@tommytillman You're welcome. By the way, did you see the most recent Mystery Diagnosis episode?

[tommytillman]

@montanerfan10 I missed seeing the show this past week, but I will see if I can see it on the rerun of it this week. Thanks for reminding me!

[montanerfan10]

@tommytillman It came on yesterday, as well. It was about a girl who had an abnormal chromosomal pattern. She had XY chromosomes, so she was diagnosed with Swyer Syndrome.

[tommytillman]

@montanerfan10 Karen said she saw it, and she said it was AWESOME !