- WELL, SOME OF THE SYMPTOMS I HAD
BEFORE I WAS DIAGNOSED, I DIDN'T REALLY, LIKE,
THINK ABOUT IT AT THE TIME.
AT CERTAIN TIMES, PART OF MY BODY WOULD GO NUMB, AND I
WOULD KIND OF GET BLURRY VISION, AND MY SPEECH WOULD BE SLURRED.
RIGHT WHEN I GOT PREGNANT WITH MY SON,
I STARTED SHAKING, LIKE A LITTLE BIT OF THE SHAKING
AND TREMORS, BUT I KIND OF DIDN'T THINK NOTHING
OF THAT, EITHER.
BUT IT GOT MORE AND WORSE AFTER I HAD MY SON, AND I WENT
TO THE NEUROLOGIST TO START SEEING WHAT IT WAS.
- CHARITY IS A PATIENT OF MINE WITH PARKINSON'S DISEASE.
I INITIALLY SAW HER WHEN SHE'D HAD SYMPTOMS FOR SOME
PERIOD OF TIME.
SHE'S QUITE YOUNG, SO I THINK BECAUSE OF HER AGE, SHE HAD BEEN
SEEN BY OTHER PHYSICIANS AND EVEN NEUROLOGIST,
AND PARKINSON'S DISEASE REALLY HADN'T BEEN THOUGHT ABOUT.
- WHEN I FOUND OUT, I REALLY DIDN'T KNOW ANYTHING OTHER THAN
THAT MICHAEL J. FOX HAD IT, AND THAT WAS PRETTY MUCH IT.
I HAVE THOUGHT ABOUT IF IT WAS HEREDITARY, AND I'VE HEARD
THAT IT IS AND IT CAN BE HEREDITARY, IT MAY NOT BE.
SO, LIKE, I'VE THOUGHT ABOUT WHAT IF MY KIDS GET IT?
BUT THERE'S REALLY NO WAY TO REALLY TELL IF THEY'RE GOING
TO OR NOT BECAUSE I'M THE ONLY ONE IN MY FAMILY WHO HAS IT.
- FOR YOUNGER-ONSET PATIENTS, SO UNDER THE AGE OF 45,
THE CHANCES THAT THEIR PARKINSON'S HAS A LARGER
GENETIC COMPONENT, WHETHER IT'S A SINGLE GENE DISORDER OR
JUST A GENETIC SUSCEPTIBILITY, IS QUITE A LOT GREATER.
SO FOR UNDER 45s, THE GENETIC COMPONENT AS OPPOSED TO THE
ENVIRONMENTAL COMPONENT OF THE DISEASE IS QUITE A BIT BIGGER.
- FIRST-DEGREE RELATIVES, WHICH ARE CHILDREN
AND PARENTS, SIBLINGS, ARE AT ABOUT TWICE THE RISK TO
DEVELOP PARKINSON'S DISEASE AS THE GENERAL POPULATION.
WHAT THIS MEANS IS BY 65, EVERYONE HAS ABOUT A 1% RISK
OF DEVELOPING PARKINSON'S DISEASE, SO IT INCREASES THEIR
RISK TO ABOUT 2%.
- YOU MAY HAVE A PARTICULAR GENETIC MAKEUP THAT MIGHT PUT
YOU AT RISK FOR A GIVEN DISEASE, BUT WITHOUT SOME
ENVIRONMENTAL INFLUENCE OR SOME OTHER GENETIC INFLUENCE,
YOU MAY NEVER SHOW SIGNS OF THE DISEASE.
- SO IT'S A VERY COMPLICATED INTERPLAY OF GENETICS
AND ENVIRONMENT, WE THINK, AND NOT JUST A SINGLE GENE
PROBABLY CAUSING THE DISEASE IN THE VAST MAJORITY
OF CASES, BUT A NUMBER OF DIFFERENT GENES,
THEN THE ENVIRONMENT THAT SOMEONE'S EXPOSED TO.
THERE ARE RARE CASES WHERE THERE IS AN AUTOSOMAL
RECESSIVE FORM, WHICH MEANS BOTH PARENTS WOULD HAVE TO HAVE
A COPY OF THE GENE FOR THE CHILD TO GET IT, OR OCCASIONAL
AUTOSOMAL DOMINANT FORMS, BUT THESE REPRESENT AN EXTREMELY
SMALL PORTION OF THOSE AFFECTED BY
PARKINSON'S DISEASE.
- GENETICS IS COMPLICATED, AND IT'S NOT ALWAYS AS SIMPLE
AS HAVING A GENE MEANS YOU WILL GET THE DISEASE.
THERE ARE A NUMBER OF COMMERCIAL ENTERPRISES
OUT THERE.
IT CAN GIVE YOU SOME BROAD INFORMATION ABOUT YOUR RISKS
FOR SPECIFIC DISEASES, BUT WHETHER THOSE RISKS
ACTUALLY PREDICT THAT YOU WILL DEVELOP THOSE DISEASES OR NOT
IS REALLY VERY LIMITED.
THE TESTS REALLY DON'T HAVE ANY CLINICAL UTILITY.
ONE CONCERN THAT IS OFTEN ASKED ABOUT IS THE RISKS
TO INSURABILITY.
THERE ARE SOME PROTECTIONS IN PLACE BOTH AT THE LEVEL
OF THE STATE AND ALSO FEDERAL.
THERE'S A RELATIVELY NEW FEDERAL
LAW CALLED "GINA," WHICH IS THE GENETIC INFORMATION
NONDISCRIMINATION ACT, THAT PROVIDES SOME PROTECTIONS
FOR HEALTH INSURANCE IN THE FACE OF GENETIC
INFORMATION DISCLOSURE.
THERE IS A GENERAL CONSENSUS THAT WE WILL NOT TEST MINORS
FOR AN ADULT-ONSET DISEASE, PARTICULARLY ONE WHERE THERE
IS NO DISEASE-MODIFYING TREATMENT, SO WE CAN'T GIVE THE
PERSON SOMETHING THAT WILL DELAY OR PREVENT ONSET.
FOR THE VAST MAJORITY OF PEOPLE WHO HAVE PARKINSON'S
DISEASE, GENETIC TESTING REALLY DOESN'T HAVE A ROLE,
AND FOR A VERY FEW PEOPLE WHERE IT MIGHT BE CONSIDERED,
IT SHOULD ALWAYS BE UNDERTAKEN IN A CAREFULLY CONSIDERED WAY
WITH THE APPROPRIATE PROVIDERS INVOLVED, INCLUDING THEIR
NEUROLOGIST, PERHAPS A MEDICAL GENETICIST,
AND A GENETICS COUNSELOR.
- ONE THING OF IMPORTANCE IS THAT THE PERSON WANTING THE
GENETIC TESTING IS THE ONE WHO HAS TO GO FOR THE COUNSELING.
SO IT MAY BE THAT A PARENT HAS PARKINSON'S DISEASE AND IS
WORRIED ABOUT THE RISK TO THEIR CHILD.
THAT CHILD HAS TO MAKE THE DECISION TO GO TO
GENETIC COUNSELING.
EXCELLENT.
NOW LET YOUR ARMS COME DOWN, AND OPEN YOUR EYES.
- WHEN MY DAUGHTER'S 18 OR MY SON'S 18, AT THAT TIME,
IF THAT'S WHAT THEY CHOOSE, THEN I'LL LEAVE IT UP TO THEM.
IF THEY KNOW THERE'S NOT REALLY ANYTHING THEY CAN DO,
THEN IF THEY WANT TO KNOW, THEN FINE.
IF NOT, THEN JUST LET IT BE.
- AND GENERALLY IN THOSE PEOPLE, WE SEE IT WITHIN
A FAMILY OR MULTIPLE MEMBERS HAVE IT.
WE DON'T HAVE THE ABILITY TO TEST FOR ALL THE GENES THAT
MAY BE INVOLVED.
SO JUST BECAUSE SOMEONE'S TESTING COMES BACK NEGATIVE
FOR WHAT WE HAVE AVAILABLE DOESN'T MEAN THAT THEY'RE NOT
GONNA DEVELOP PARKINSON'S DISEASE.
SO THINK THAT REALLY HAS TO BE STRONGLY UNDERSTOOD
WITH A DISEASE LIKE PARKINSON'S, THAT WE MAY BE
ABLE TO CHECK FOR THESE VERY COMMON MUTATIONS, BUT WITHIN
THE WHOLE POPULATION, THOSE REPRESENT A REALLY SMALL
PORTION OF THE PEOPLE WHO ARE GONNA GET PARKINSON'S DISEASE.
- MANY OF THE GENES THAT HAVE BEEN FOUND, THE MOST VALUABLE
THING ABOUT THEM IS THAT THEY HAVE HELPED US TO UNDERSTAND
THE BIOLOGY OF PARKINSON'S DISEASE.
- SO IT'S REALLY AT THIS POINT GAINING INFORMATION
FOR THE BROADER POPULATION AS A WHOLE RATHER THAN LIKELY TO
BENEFIT ANY INDIVIDUAL PATIENT.
- THERE IS A LOT OF ONGOING RESEARCH INTO THE GENETICS
OF PARKINSON'S DISEASE.
THERE ARE MANY RESEARCH PROJECTS THAT ARE GOING
ON BOTH WITHIN THE VETERANS ADMINISTRATION AND OUTSIDE,
AND SO IF PEOPLE WANT TO KNOW ABOUT WHAT RESEARCH PROJECTS
MIGHT BE INVOLVED AT THEIR PARTICULAR INSTITUTION,
THEY CAN CHECK IN WITH THEIR PADRECC OR THEIR VA PROVIDER,
WHO USUALLY HAS A LISTING OF THOSE TYPES OF STUDIES.
- SO TO SUMMARIZE ON PARKINSON'S AND GENETICS,
IT'S A VERY COMPLICATED ISSUE AT THIS POINT, AND WE'RE REALLY
AT THE POINT OF DOING RESEARCH IN THIS AREA AND NOT--IT'S NOT
SOMETHING THAT IT'S CLINICALLY APPROPRIATE TO BE
TESTING PEOPLE.
- CHARITY HASN'T SAID ANYTHING ABOUT PASSING IT
ON TO HER KIDS.
I DON'T KNOW IF SHE'S REALLY THOUGHT ABOUT IT OR IF SHE
JUST TRIES NOT TO THINK ABOUT THAT TYPE OF ASPECT OF IT
BECAUSE SHE DOESN'T WANT TO HAVE TO WORRY ABOUT WHAT'S GONNA
HAPPEN IN THE FUTURE.
I THINK SHE'S JUST MORE FOCUSED ON LIVING THE BEST
LIFE SHE CAN NOW AND NOT WORRYING ABOUT WHAT IT'S GONNA
DO IN THE FUTURE.
- THE BEST ADVICE I CAN GIVE FOR PEOPLE WHO ARE
DIAGNOSED IS, YEAH, IT'S KIND OF SHOCKING AT FIRST,
AND YOU MIGHT SIT THERE AND BE LIKE, "WELL, WHY ME?"
BUT, YOU KNOW, YOU CAN'T STOP LIVING.