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

Part 1 of 2 of HPS Mystery Diagnosis (Uncut Version). First broadcast on the Discovery Health Channel on August 16, 2010. Now it is a part of OWN (Oprah Winfrey Network).

This Mystery Diagnosis episode is about Hermansky Pudlak Syndrome. Mystery Diagnosis is a wonderful program on the Discovery Health channel - new episodes are shown on Monday nights at 10PM EST, but you can catch many older episodes during the week at various times.... and they sometimes pop up on Discovery and TLC.

What is HPS?
Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.

Characteristics
HPS is described by five major characteristics which may include albinism, platelet dysfunction, inflammatory bowel disease, and pulmonary fibrosis.

Diagnosing HPS
The current diagnosis for HPS involves a simple non standard blood test.

Standard of Care
At the moment there is no one particular treatment for HPS.

You can get informtion about HPS at...

www dot hpsnetwork dot org

And Thank You to the Mystery Diagnosis crew for their hard work, and special thanks to those who dedicated their time and hours to make this show possible. And Special Thanks to the Discovery Health Channel for this wonderful show.

Category:

Nonprofits & Activism

Tags:

• HPS
• Mystery
• Diagnosis
• Hermansky
• Pudlak
• Syndrome
• The
• Girl
• with
• no
• Bowel
• Pulmonary
• Fibrosis
• Bleeding
• Disorder
• Platelets
• Albinism
• Crohns
• Disease
• Ileostomy
• Bruising

[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.

[Luvme4evaful]

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

[BritaniaANDPrussia]

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

[ImaBearXD]

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

[tommytillman]

@ImaBearXD Imagine how Karen and her family felt !!

[GaaraBabyEater]

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