TIMELY AND ACCURATE MEDICAL DIAGNOSIS IS KEY TO SUCCESSFULLY
MANAGING A DISEASE AND SUSPECTED HEALTH
ISSUES.
BUT A LUNG DISEASE KNOWN AS ALPHA ONE IS OFTEN MISDIAGNOSED
TAKING UP TO SEVEN YEARS AND MULTIPLE PHYSICIANS BEFORE AN
ACCURATE DIAGNOSIS CAN BE MADE.
OUR NEXT GUEST IS HERE TO TALK ABOUT
ALPHA ONE AND THE LONG JOURNEY PATIENTS EXPERIENCE
BEFORE BEING PROPERLY DIAGNOSED AS WELL AS HOW
MEDICAL PROFESSIONALS CAN BETTER
DIAGNOSE ALPHA ONE, WITH US TODAY IS DOCTOR ROBERT SANDHAUS
DIRECTOR
OF THE ALPHA ONE PRGRAM AT THE NATIONAL JEWISH HEALTH IN
DENVER COLORADO, GOOD MORNING DOCTOR.
THANK
YOU VERY MUCH FOR HAVING ME HERE.
I'M SO GLAD YOUR HERE BECAUSE THIS IS SOMETHING THAT I THINK A
LOT
OF PEOPLE HAVE NOT HEARD OF ALPHA ONE.
ABSOLUTELY.
TELL ME EXACTLY WHAT IT IS?
WELL IT'S A GENETIC
CONDITION ALPHA ONE ACTUALLY STANDS FOR
ALPHA ONE ANTITRYPSIN DEFICIENCY, A LITTLE HARD TO
SAY...
BIG
WORD THERE, ALPHA ONE IS GOOD.
...BUT NICE TO HAVE ALPHA ONE, AND IT IS MUCH MORE COMMON THAN
PEOPLE
REALIZE, IT'S ABOUT THREE TIMES AS COMMON AS SYSTIC
FIBROSIS A GENETIC CONDITION THAT EVERYONES HEARD
OF.
AND YOU KNOW I AM A CARRIER FOR SYSTIC FIBROSIS.
REALLY.
MY HUSBAND IS NOT THANK GOODNESS.
NIH IS A
CARRIER FOR ALPHA ONE.
LOOK AT THAT.
SO THERE ARE ABOUT TWENTY MILLION CARRIERS OF ALPHA ONE IN
THE
UNITED STATES ALONE.
SO WHY IS IT SO OFTEN MISDIAGNOSED?
WELL IT CAN BE SORT OF A CHAMELEON DISEASE.
IT
MASQUERADES AS OTHER DISEASES, IT CAN CAUSE LIVER
DISEASE IN NEWBORNS.
IT CAN CAUSE LUNG DISEASE IN ADULTS AND EVENTUALLY LIVER
DISEASE IN ADULTS AS WELL.
IT'S LIVER DISEASE THAT LOOKS TO ALL THE WORLD
LIKE SOROSIS, IT'S LUNG DISEASE THAT LOOKS TO ALL
THE WORLD LIKE EMPHYSEMA OR CRONIC OBSTRUCTIVE
PULMONARY DISEASE, COPD.
SO WOULD YOU CATEGORIZE IT AS A RARE DISEASE IF YOU WILL.
WELL IT TECHNICALLY
IS A RARE DISEASE BECAUSE A RARE DISEASE
IS DEFINED AS A DISEASE THAT AFFECTS LESS THAN TWO HUNDRED
THOUSAND INDIVIDUALS AND WE'RE PROBABLY JUST BELOW THAT LEVEL.
AND TYPICALLY DOES IT EFFECT MORE MEN
OR WOMEN OR BOTH?
IT ACTUALLY EFFECTS MEN AND WOMEN EQUALLY, AND SO UNLIKE THE
IMPRESSION THAT COPD
EFFECTS MEN, IN FACT COPD EFFECTS MENA
ND WOMEN EQUALLY NOW, AND THE PROBLEM IS THAT THERES NOTHING
SPECIFIC ABOUT HOW AN ALPHA ONE PATIENTS LUNG DISEASE LOOKS TO A
DOCTOR OR TO THIER FAMILY, THE ONLY
WAY TO KNOW THAT SOMEONE HAS ALPHA ONE IS TO DO A SIMPLE
BLOOD TEST.
AND COUPLE MORE QUESTIONS, IN TERMS OF AGE, IS THERE AN AGE
RANGE AND WHAT ARE THE SYMPTOMS THAT WOULD MANIFEST?
WELL IN NEWBORNS,
ITS ALWAYS LIVER FAILURE, FORTUNATELY IT'S
A RARE COMPLICATION OF ALPHA ONE TO HAVE LIVER FAILURE BUT
IT'S THE SECOND MOST COMMON REASON
THAT KIDS GET LIVER TRANSPLANTS AND IN ADULTS IT SHOWS UP AS
SHORTNESS OF BREATH, OFTEN WITH EXASPERATION, WHEEZING, FREQUENT
LUNG INFECTIONS, THERES A GROUP OF
SYMPTOMS BUT THEY LOOK IDENTICAL TO THE SYMPTOMS OF
SOMEONE WITH CRONIC ASTHMA OR COPD.
AND IF SOMEONE
IS DIAGNOSED, IS THERE HOPE, IS THERE SOMETHING
THAT CAN DONE TO HELP THEM?
ABSOLUTELY, THERE IS.
FOR
THE LUNG DISEASE, YOU CAN REPLACE THE MISSING ALPHA ONE
PROTEIN WITH INTRAVENOUS INFUSIONS AND THAT
HALTS THE PROGRESS OF THE DISEASE,
UNFORTUNATELY EMPHYSEMA CAN'T BE REVERSED YET.
CORRECT.
OK DOCTOR, I
WANT YOU TO STAY RIGHT THERE BECAUSE WHEN WE COME
BACK WE'RE GOING TO GET UP CLOSE AND PERSONAL WHEN
WE MEET AN ALPHA ONE PATIENT.
SHE'S GOT AN AMAZING STORY, YOU'RE GOING TO WANT TO TUNE IN,
THE
BALANCING ACT WILL BE RIGHT BACK.
(MUSIC).
GET A JUMP START ON YOUR DAY WITH ANIMATED
CONVERSATION.
THE REASON IS, WE KNOW THERE'S A LITTLE MORE JUNK IN THE TRUNK.
IT'S A DOWN RIGHT FUN
SHOW!
OH, MY GOSH!
SHE IS CHEATING!
THE BALANCING ACT.
TUNE IN EVERY DAY FOR STORIES, AND SOLUTIONS, TO
HELP BALANCE YOUR LIFE.
FROM THE KITCHEN, TO THE GYM,---.
---TO YOUR POCKETBOOK.
WE'VE GOT YOU
COVERED.
LIFE'S A BALANCING ACT, AND WE'RE HERE TO HELP.
JOIN US WEEKDAY MORNINGS AT 7AM, ON
LIFETIME.
(MUSIC).
WELCOME BACK EVERYONE, CONTINUING OUR DISCUSSION NOW OF
ALPHA ONE.
A LUNG DISEASE
AFFECTING ONE OUT OF EVERY TWENTY FIVE HUNDRED
PERSONS.
HERE TODAY AGAIN DOCTOR ROBERT SANDHAUS
DIRECTOR OF AN ALPHA ONE PROGRAM AT THE NATIONAL
JEWISH HEALTH IN DENVER COLORADO, AND JOINING US NOW
A WOMAN WHO'S GRACIOUSLY OFFERED
TO SHARE HER VERY OWN ALPHA ONE EXPERIENCE AND HER PATH TO
DIAGNOSIS
AND MANAGEMENT OF THIS GENETIC DISEASE, HER NAME IS
PEGGY IVERSON, GOOD MORNING PEGGY.
GOOD MORNING
OLGA.
THANKS SO MUCH FOR BEING HERE.
THANK YOU.
DOCTOR THANKS FOR STICKING AROUND.
PEGGY LET ME START
WITH YOU, WHAT'S BEEN THE MOST DIFFICULT
PART LET'S SAY OF THIS JOURNEY, ALPHA ONE JOURNEY?
I WOULD
SAY IT'S THE LOSS OF MY MOM...
OH, I'M SO SORRY.
...WHO WAS DIAGNOSED WITH ALPHA ONE ANTITRIPSEN
DEFICIENCY, UM, MY CHILDREN ARE CARRIERS, I HAVE
TWO SONS AND THEN WATCHING OTHERS BE DIAGNOSED LATE
WITH ALPHA ONE AND SUFFERING WITH
LUNG DISEASE, ADVANCED LUNG DISEASE.
BUT AS A RESULT OF YOUR
MOTHERS DEATH AND I AM VERY SORRY, YOU
OBVIOUSLY THEN FOUND OUT A BIT EARLIER I WOULD THINK.
I DID.
I'M
REALLY FORTUNATE TO HAVE BEEN DIAGNOSED IN MY TWENTIES
BECAUSE MY MOM WAS SHORT OF BREATH, YA KNOW
AND COULDN'T UM, FIGURE OUT WHAT WAS WRONG
BECAUSE SHE HAD NEVER SMOKED AND SHE WAS DIAGNOSED
CORRECTLY AND LIVED FOR NINE YEARS AFTER HER
DIAGNOSIS BECAUSE THERE WAS NO TREATMENT BACK THEN.
THIS
WAS IN THE SEVENTIES AND EIGHTIES.
SO BECAUSE I WAS DIAGNOSED YOUNG, I'VE BEEN ABLE TO MAKE
HEALTHY
LIFE CHOICES AND WE ALSO WERE ABLE TO FOLLOW ME AND KNOW
WHEN LUNG DISEASE BEGAN, SO I WAS ABLE TO
GET AUGMENTATION THERAPY TO HELP KEEP MY LUNGS
STABLE AND PROTECT ME.
DOCTOR I WOULD THINK PEGGYS
VERY FORTUNATE BECAUSE YOU
AND I WERE TALKING A FEW MINUTES AGO ABOUT HOW IT'S SO
MISDIAGNOSED, SHES
NOT OBVIOUSLY ONE OF THE COMMON DIAGNOSES
WE'VE BEEN TALKING ABOUT?
RIGHT, AS YOU MENTIONED MOST PEOPLE DON'T GET DIAGNOSED UNTIL
MANY YEARS AFTER THIER SYMPTOMS BEGIN, BUT THANKS TO FAMILY
TESTING,
WHICH IS ONE OF THE THINGS WE ARE REALLY PUSHING NOW
ONCE WE IDENTIFY AN ALPHA ONE PATIENTS WE EXTEND
THAT TESTING TO THIER ENTIRE FAMILY AND PICK
UP A LOT OF PEOPLE BEFORE THEY GET DISEASE.
AND WHAT KIND
OF TESTING IS BEING DONE NOW, AS APPOSED TO
THE FAMILY TESTING.
WELL THAT IS A LITTLE MORE ACCURATE.
THE TESTING IS SIMPLE, IT'S USUALLY JUST A FINGER STICK
BLOOD TEST, THERE ARE FREE TEST KITS THAT
MANY, ARE PROVIDED BY MANY COMPANIES THAT ALLOW
DOCTORS TO DO AS MUCH TESTING AS THEY NEED TO DO ON
THIER PATIENTS IN FACT, THE AMERICAN
THORACIC SOCIETY OF THE EUROPEAN RESPIRATORY SOCIETY , THE
WORLD HEALTH ORGANIZATION HAVE
RECOMMENDED THAT EVERY PATIENT WITH A DIAGNOSIS OF COPD OR
CRONIC
ASHTMA AS AN ADULT GET TESTED FOR ALPHA ONE.
AND IT'S REALLY EASY TO DO IF YOU THINK ABOUT IT CAUSE
IF YOU DO HAVE THOSE SYMPTOMS AS A
RESULT OF MAYBE ALPHA ONE JUST TO GET THAT TEST COULD REALLY
MEAN
THE DIFFERENCE BETWEEN LIFE OR DEATH?
ABSOLUTELY BECAUSE THERE'S THAT SPECIFIC THERAPY THAT WOULDN'T
BE PROVIDED IF YOU DIDN'T HAVE THAT DIAGNOSIS.
PEGGY, I WANT TO END WITH YOU...AND I WEANT TO THANK
YOU SO MUCH FOR SHARING YOUR STORY
WITH US THIS MORNING.
THANK YOU.
ANY ADVICE YOU'DE GIVE TO SOMEONE
OUT THERE THAT COULD BE SUFFERING FROM THOSE SYMPTOMS
AND WONDERING YOU KNOW WHAT IS IT THAT I HAVE
OR GOES TO THE DOCTORS, BEEN TO SIX DOCTORS AND
IS CLUELESS?
ABSOLUTELY, PLEASE BE DILIGENT AND GET
TESTED FOR ALPHA ONE ANTITRIPSEN DEFICIENCY.
IT'S THAT SIMPLE BLOOD TEST GO THE EXTRA MILE AND PLEASE
DO IT.
AND REALLY EXTEND YOU LIFE AND LEAD A PRODUCTIVE LIFE AS WELL.
YES.
PEGGY I WANT TO THANK YOU
SO MUCH FOR EBING HERE.
THANK YOU.
THANK YOU FOR SHARING YOUR STORY.
DOCTOR.
THANK YOU.
THANK YOU FOR ALL
THE INFORMATION.
AND IF YOU'DE LIKE TO FIND OUT MORE ABOUT TODAYS IMPORTANT
MEDICAL INFORMATION VISIT
US AT thebalancingact.com AND OF
COURSE SHARE WITH US ANYTHING RELATED TO TODAYS TOPIC ON OUR
FACEBOOK
AT THE BALANCING ACT FANS.