OUR BEHIND THE MYSTERY SERIES CONTINUES THIS MORNING WITH A LOOK AT A RARE BLOOD DISORDER.
SO RARE, IN FACT, THAT IT ONLY AFFECTS A FEW PATIENTS PER MILLION.
IT'S CALLED PNH.
AND HERE TO HELP US UNRAVEL THE MYSTERY AND TELL US WHAT THAT STANDS FOR AND HOW TO FIND
IT IS DR.
ELY ROMAN, A HEMATOLOGIST WITH EXTENSIVE EXPERIENCE MANAGING PNH.
AND DAN CHIN FUNG, A PNH PATIENT ADVOCATE.
GENTLEMAN IT'S SO GREAT TO HAVE YOU BOTH IN THE STUDIO THIS MORNING.
THANK YOU.
IT'S A VERY IMPORTANT TOPIC.
DOCTOR I WANT TO TURN TO YOU FIRST AND WHAT EXACTLY DOES PNH STAND FOR AND WHAT IS IT
EXACTLY?
WELL, GREAT QUESTION.
PNH IS A RARE DISORDER.
IT STANDS FOR PAROXYSMAL NOCTURNAL HEMOGLOBIN AREA.
WOW.
OK.
BASICALLY, IT'S A DISEASE OF YOUR IMMUNE SYSTEM.
OUR IMMUNE SYSTEM HAS VARIOUS PARTS.
SPECIFICALLY, THE COMPLIMENT SYSTEM.
WE'RE LEARNING MORE AND MORE THAT THE COMPLIMENT SYSTEM HAS A LOT TO DO WITH SEVERAL ILLNESSES
AND MOST OF THEM ARE ACTUALLY RARE.
THE MORE TIME THAT PASSES INVESTIGATING THESE ILLNESSES PNH WAS ONE OF THESE ILLNESSES THAT
WE DISCOVERED.
SO, THE PROBLEM IS THAT IT IS SO RARE THE MEDIAN AGE IS AROUND THE 35 YEARS OF AGE.
USUALLY PATIENTS THAT YOU'D EXPECT TO BE HEALTHY.
AND EVERY PATIENT IS UNIQUE.
PATIENTS COME IN WITH BLOOD CLOTS.
SOME PATIENTS COME IN WITH RENAL FAILURE, LUNG PROBLEMS.
EVERY PATIENT PRESENTS IN THEIR OWN WAY.
AND THAT LEADS, UNFORTUNATELY TO DELAYED DIAGNOSIS.
AND OF COURSE, THE MORE TIME THAT PASSES THE MORE ILLNESSES THESE PATIENTS DEVELOP.
THE WORSE THEIR KIDNEYS ARE, THE WORSE THEIR BODY IS.
THEIR BODY IS LITERALLY RAVAGED.
WOW.
THIS SEEMS LIKE A VERY SERIOUS ILLNESS AND WHAT ARE THE CONSEQUENCES THAT IT HAS ON THE
BODY.
THE IMMUNE SYSTEM IS ALL OVER OUR BODY.
SO, IT LITERALLY ATTACKS OUR WHOLE BODY.
THERE ARE SEVERL CONSEQUENCES.
THE WORST OF WHICH ARE BLOOD CLOTS.
THIS IS A DISORDER THAT YOU HAVE AN EMENSE RISK OF DEVELOPING A BLOOD CLOT.
THAT BLOOD CLOT CAN BE A STROKE.
A HEART ATTACK, YOU CAN CLOT OF A LEG, AN INTESTINE.
AND THAT COULD RESULT IN SERIOUS INJURY, MORBIDITY, FATALITY.
IT CAN AFFECT YOUR LUNGS, YOUR KIDNEYS, YOU CAN GO INTO RENAL FAILURE AND IN HEMO DIALYSIS.
SO, TRULY A DEVASTATING DISORDER AND IT TENDS TO AFFECT YOUNG PEOPLE.
EVEN THOUGH IT CAN YOUNG, THE ELDERLY, MEN, WOMEN, IT DOES NOT DISCRIMINATE BASED ON RACE,
AGE, GENDER.
IT'S TRULY A GLOBAL ILLNESS AND IT AFFECTS EVERY ONE.
AND THE MAIN PROBLEM IS NUMBER ONE DIAGNOSIS, WE'RE NOT THINKING ABOUT THIS BECAUSE IT'S
RARE.
AND NUMBER TWO, DESPITE THE BEST SUPPORTIVE CARE, FOR EXAMPLE, BLOOD TRANSFUSIONS, BLOOD
THINNERS, ALL THESE STEROIDS, EVERYTHING WE THROW AT THIS ILLNESS.
ESPECIALLY IN THE PAST SIMPLY DID NOT WORK.
WELL, DAN, I WANT TO TURN TO YOU.
TELL ME A LITTLE BIT ABOUT YOURSELF AND WHAT WERE YOUR EARLY SYMPTOMS.
WHEN I WAS 19, THE FATIGUE AND LIKE DR.
ROMAN REFERENCED, YOU KNOW, I WENT THROUGH THAT WHOLE COMPLIMENT OF YOU KNOW, BLOOD TRANSFUSIONS,
STEROIDS, AND JUST LIKE IT'S A BAND AID FOR A BULLET WOUND.
YOU KIND OF JUST ARE ABLE TO SURVIVE BUT YOU ARE NOT ABLE TO THRIVE.
YOU'RE JUST KIND OF EXISTING.
AND YOU'RE WAITING FOR YOUR NEXT HEALTH FAILURE.
AND YOU JUST KIND OF TRUDGE ON THROUGH.
IT WAS ONLY ABOUT 11 YEARS THAT I WENT THROUGH THAT BEFORE WE WERE ABLE TO DIAGNOSE.
SO, IT TOOK 11 YEARS.
THAT'S JUST WAY TOO LONG.
DOCTOR, I UNDERSTAND YOU SEE MORE PNH PATIENTS THAN MOST DOCTORS OUT THERE.
WHAT ARE SOME OF THE OTHER SYMPTOMS AND WHAT SHOULD PEOPLE BE AWARE OF.
WHAT ARE THE LAB VALUES TEST.
I MEAN THIS SEEMS LIKE IT'S HARD TO REALLY PINPOINT.
IT IS.
IT'S A RARE ENTITY.
SO, WE'RE JUST NOT THINKING ABOUT IT.
SOME THINGS THAT AS DAN MENTIONED THIS DISABLING FATIGUE, DIFFICULTY WITH SWALLOWING, BLOOD
CLOTS, ESPECIALLY BLOOD CLOTS.
IT'S AN USUAL SIGHT.
YOU KNOW, WHEN THINGS HAPPEN YOU HAVE ABNORMAL BLOOD COUNTS AND YOU SIMPLY CAN'T EXPLAIN
IF MORE PEOPLE WOULD DO THIS AND MORE PHYSICIANS WOULD THINK ABOUT IT THE MORE PATIENTS WOULD
BE DIAGNOSED.
IS THERE A SIMPLE TEST?
ABSOLUTELY.
IT'S A SIMPLE BLOOD TEST.
IT'S CALLED FLOS ATOMETRY.
LOOKING SPECIFICALLY FOR A PROTEIN ON YOUR RED BLOOD CELLS THAT IS MISSING.
IF THOSE PROTEINS ARE MISSING, YOU HAVE PNH.
SUCH GREAT INFORMATION SO IT'S A SIMPLE TEST THAT DOCTORS AND PATIENTS NEED TO BE A AWARE
OF AND THERE'S SO MUCH MORE INFORMATION WE ARE GOING TO TALK ABOUT SO DON'T GO ANYWHERE.
STAY RIGHT WITH US.
WE'RE COMING BACK.
(MUSIC)
WE'RE BACK AND I'M SPEAKING WITH DOCTOR ELY ROMAN AND DAN CHANTHUN ABOUT PNH, A RARE BLOOD
DISORDER.
AND DAN, I WANT TO TURN TO YOU AGAIN.
AS A PATIENT AND AN AMBASSADOR, GIVE ME A LITTLE BIT AND TELL ME A LITTLE BIT ABOUT
YOUR DIAGNOSTIC JOURNEY AND HOW YOU FOUND OUT.
WHEN I WAS 19 I STARTED TO EXPERIENCE CHRONIC FATIGUE AND THEN YOU START TO GET INTO HEMOLYSIS.
LIKE, DR.
ROMAN REFERENCED THE DARK URINE IN THE MORNING.
YOU JUST CAN'T FUNCTION NORMALLY.
IT'S AN OVERWHELMING FEELING.
AND IT'S HARD TO IMAGINE THAT IT TOOK 11 YEARS TO DIAGNOSE YOU AND DOCTOR, YOU KNOW, TURNING
TO YOU, IS THIS AN AWARENESS ISSUE?
ARE NOT ENOUGH DOCTORS IN THE GENERAL PUBLIC AWARE OF PNH.
I BELIEVE THIS IS A MULTI FACTORIAL ISSUE.
THERE ARE MANY FACTORS THAT TAKE INTO PLAY HERE.
THE MOST IMPORTANT ONE BEING WE ARE JUST NOT AWARE.
WE DON'T THINK OF THIS.
YOU KNOW, USUALLY IF WE THINK OF AN ILLNESS WE'RE VERY LIKELY TO ACT ON IT.
AT LEAST TRY TO DIAGNOSIS IT.
RIGHT.
AS WE MENTIONED PREVIOUSLY, THE DIAGNOSIS OF THIS ILLNESS IS QUITE EASY.
IT'S A SIMPLE BLOOD TEST.
ALL YOU'VE GOT TO DO IS HAVE AN ARM AND A NEEDLE.
RIGHT.
THAT'S IT.
AND THINK OF THE TEST.
THE TEST IS CALLED FLO SITOMPENTRY.
AND THE GOOD NEWS IS THAT THE TEST IS GETTING MORE AND MORE SENSITIVE AS TIME GOES ON.
WE TALKED BEFORE, IT'S NOT JUST AN OLDER GENERATION.
IT'S A YOUNGER GENERATION OF MEN, WOMEN.
WHAT DO PEOPLE NEED TO KNOW IF THERE IS SOMEONE OUT THERE FEELING LIKE THEY HAVE SOME OF THESE
SYMPTOMS WHAT DO THEY REALLY NEED TO KNOW?
WELL, EVERY PATIENT IS UNIQUE.
EVERY PATIENT PRESENTS THERE OWN WAY.
A PATIENT FOR EXAMPLE, THAT COMES IN WITH AN UNEXPLAINED BLOOD CLOT.
WHY IS THIS PERSON GETTING A BLOOD CLOT IN THE LIVER, IN THE BRAIN, IN THE LEG.
SHOULDN'T HAPPEN.
SO, THAT'S ONE.
ESPECIALLY, A BLOOD CLOT IN AN UNUSUAL SITE.
A PERSON THAT COMES IN WITH UNEXPLAINED, WHAT WE CALL IN MEDICINE, SYTOPENIAS.
UNEXPLAINED ANEMIA, LOW PLATELET COUNTS.
LOW WHITE BLOOD CELL COUNTS, YOU SIMPLE CAN'T PUT A FINGER ON TO WHAT IS HAPPENING.
THAT'S ANOTHER REASON.
SO, ALL OF THESE THINGS TOGETHER SHOULD LEAD YOU TO THINK OF THIS POSSIBLE ENTITY.
NOT ONLY ALL OF THEM TOGETHER, ANY ONE OF THOSE.
BECAUSE EVERY PATIENT IS UNIQUE.
AND DAN, YOU KNOW, THERE MIGHT BE SOMEONE WATCHING THE SHOW TODAY THAT IS FEELING LIKE
YOU FELT.
WHAT WOULD YOU SAY TO THAT PERSON?
INITIALLY, JUST OPEN UP A DIALOGUE WITH YOUR DOCTOR ABOUT IT.
SECONDARILY, I THINK THERE IS A LOT OF INFORMATION OUT THERE NORD, THE NATIONAL ORGANIZATION
OF RARE DISORDERS HAS A WONDERFUL WEBSITE.
THERE IS A COMMUNITY OUT THERE OF PEOPLE WHO ARE SURVIVING AND THRIVING WITH THE DISEASE.
THE BIG THING FOR ME IS THAT THEY UNDERSTAND THAT ALTHOUGH THEY, AS THEY WALK THIS PATH
OF PNH THAT THERE ARE PEOPLE THERE WITH THEM.
THE GOOD NEWS IS THAT EVERYTHING IS GETTING BETTER.
MORE PATIENTS ARE BEING IDENTIFIED.
PATIENTS, ONCE IDENTIFIED, HOPEFULLY THEY'LL BE PLACED IN THE PNH REGISTRY.
SO, WE LEARN MORE FROM THEM SO THAT WE MAY HELP OTHERS.
AND NOT ONLY THAT THE SOURCES TO GET INFORMATION FROM PNH.COM
THERE ARE OTHER SOURCES PNHCOMMUNITY.ORG THERE ARE MANY WEBSITES OUT THERE THAT CAN
REALLY ASSIST PATIENTS SO THAT AS DAN SAID, SO THAT THEY DON'T FEEL ALONE.
SO THAT THEY KNOW THAT WE ARE IN THIS TOGETHER.
THAT'S GREAT.
IT'S ACTUALLY GREAT NEWS.
YOU KNOW, THERE IS A FAST DIAGNOSIS, THERE'S RESOURCES OUT THERE.
THANK YOU BOTH SO MUCH FOR COMING IN AND SHARING THIS.
IT'S AN IMPORTANT TOPIC AND THERE MAY BE SOMEONE WATCHING TODAY THAT'S RIGHT IN THE SHOES YOU
WERE IN 11 YEARS AGO, DAN.
REALLY, THANK YOU BOTH FOR COMING IN TODAY.
THANK YOU.
AND IF YOU WOULD LIKE TO KNOW MORE, I WANT YOU TO LOG ON TO
THEBALANCINGACT.COM YOU CAN ALSO FOLLOW US ON FACEBOOK AND TWITTER
AS WELL.
WE LOVE HEARING FROM YOU