DID YOU KNOW THAT OVER THIRTY MILLION PEOPLE ARE LIVING WITH
RARE DISEASES AND MANY OF THEM ARE CHILDREN?
AND DON'T LET THE TERM "RARE" FOOL YOU.
THERE ARE OVER 7000 DISEASES THAT QUALIFY AS RARE.
THAT IS A LOT.
HERE TO HELP SPREAD THE WORD ABOUT RARE DISEASES, FINDING A
DIAGNOSIS, AND SUGGESTIONS ON WHERE TO GO FOR HELP OUR TWO
VERY SPECIAL LADIES NICOLE BOICE AND LLANA JACQUELINE FROM GLOBAL
GENES.
GOOD MORNING WELCOME BACK!
GOOD NICE TO SEE YOU AGAIN.
HI LLANA....
HI.
...NICE SEEING YOU.
NICOLE LET ME START WITH YOU.
TALK TO ME ABOUT THE IMPORTANCE OF GLOBAL GENES.
SO WE ARE A GLOBAL ADVOCACY ORGANIZATION WORKING TO HELP
ELIMINATE THE CHALLENGES OF RARE DISEASE FOR THOSE FAMILIES AND
PATIENTS THAT ARE SUFFERING. 350 MILLION PEOPLE WORLDWIDE ARE
AFFECTED.
THAT'S MORE THAN ALL...
WOW.
...CANCERS AND AIDS COMBINED.
IT'S A MASSIVE COMMUNITY AND OUR GOALS ARE NOT ONLY TO RAISE
AWARENESS, BUT ALSO HELP EQUIP PATIENTS TO BECOME ADVOCATES OR
BETTER ACTIVISTS FOR THEIR DISEASE BY SUPPLYING RESOURCES.
HELPING MAKE CRITICAL CONNECTIONS TO TOOLS THAT THEY
NEED TO HELP THEM ON THEIR JOURNEY.
AND LET ME TELL YOU, YOU HAVE SOMEBODY HERE VERY SPECIAL
HELPING YOU OUT HERE.
LLANA HOW OLD ARE YOU?
I AM TWENTY FOUR.
WELL I WANT EVERYBODY OUT THERE TO KNOW THAT LLANA IS THE REASON
FOR THE BEHIND THE MYSTERY SERIES.
AND WE THANK YOU SO MUCH FOR THAT.
FOR BRINGING THAT RECOGNITION TO US AND EVERYTHING YOU ARE DOING
ALONG THE WAY.
TELL ME ABOUT WHAT HAPPENED WITH YOU, YOUR DISEASE, AND THE
DIAGNOSIS BEHIND IT.
WELL I WASN'T DIAGNOSED UNTIL I WAS 19...
WOW.
...YES, EVEN THOUGH I WAS BORN WITH A DISEASE CALLED PRIMARY
IMMUNE DEFICIENCY DISEASE, WHICH IS KIND OF LIKE THE BOY IN THE
BUBBLE DISEASE...
MHM.
...BUT A LITTLE BIT TAMER AND A LITTLE MORE EASIER TO MANAGE.
MY MOM IS ACTUALLY A PRODUCER HERE AT THE BALANCING ACT AND
SHE HAS BEEN WITH ME FOR THIS WHOLE JOURNEY TRYING TO FIND A
DIAGNOSIS AND IT HAS BEEN A VERY LONG JOURNEY.
AND SHE HAS BEEN THERE RIGHT BEHIND YOU, RIGHT BESIDE YOU,
AND I KNOW HOW PROUD SHE IS OF YOU AS WE ARE TOO.
NICOLE FROM WHAT I AM HEARING YOU ARE TALKING ABOUT A YOUNG
LADY WHO KNOWS SOMETHING IS WRONG, MOM IS TRYING TO DO
EVERYTHING, FRUSTRATING I CAN ONLY IMAGINE.
IT IS VERY COMMON IN THE RARE DISEASE COMMUNITY ON AVERAGE IT
TAKES UP TO EIGHT YEARS TO FIND A DIAGNOSIS.
IN THAT TIME YOU HAVE HAD THREE MISDIAGNOSES, YOU HAVE SEEN TEN
DIFFERENT SPECIALISTS.
AND IMAGINE THE PSYCHOSOCIAL IMPACT.
THE ECONOMIC IMPACT NOT ONLY FOR THE FAMILY, BUT ALSO FOR THE
SYSTEM.
YEAH.
YOU CAN RELATE TO THIS?
MHM.
I MEAN IT DOES HAVE A HUGE EMOTIONAL IMPACT ON YOU.
A LOT OF PATIENTS ARE ACCUSED OF HAVING THINGS OF BEING LIKE
HYPOCHONDRIAC OR HAVING MUNCHHAUSEN BY PROXY AND REALLY
THEY ARE JUST TRYING TO FIND OUT WHAT'S GOING ON WITH THEM AND
MAKE IT BETTER.
THEY ARE JUST SEARCHING FOR ANSWERS...
YEAH.
...IF YOU WILL.
NOW I KNOW NICOLE THERE HAVE BEEN A LOT OF ADVANCES IN
GENOMAPPING.
IS THAT TECHNOLOGY HELPING WITH THE RARE DISEASES?
EXOME SEQUENCING, GENETIC SEQUENCING IS BECOMING MORE
AFFORDABLE AND IT IS BEING USED AS A TOOL TO HELP DIAGNOSE
PATIENTS.
WE HAVE BEGUN A PROGRAM CALLED THE UNDIAGNOSED PATIENT PROJECT.
AND IT'S A PILOT PROGRAM WHERE WE ARE RAISING MONEY
SPECIFICALLY TO HELP DIAGNOSE PATIENTS.
EXCELLENT.
LLANA I KNOW FEBRUARY 28TH IS WORLD RARE DISEASE DAY TELL ME
WHAT THAT DAY MEANS FOR YOU AND WHAT VIEWERS CAN DO TO HELP.
IT'S A BIG DAY FOR ME AND FOR GLOBAL GENES BECAUSE IT'S A DAY
THAT THE RARE DISEASE COMMUNITY GETS TO CONNECT AND FIND SUPPORT
WITH EACH OTHER AND ONE OF THE WAYS THAT THEY CAN SHOW SUPPORT
IS BY WEARING OUR SIGNATURE DENIM RIBBON...
MHM.
...AND ALSO THERE ARE MANY SCHOOLS AND WORKPLACES THAT HOLD
FUNDRAISERS WHERE PEOPLE CAN PAY A COUPLE OF DOLLARS TO WEAR
JEANS THAT DAY TO REPRESENT RARE DISEASE.
SO IMPORTANT FOR PEOPLE TO FEEL LIKE THEY ARE NOT ALONE.
LLANA I WANT TO END WITH YOU BECAUSE YOU ARE JUST AN
INSPIRATION AND YOU ARE REALLY THE REASON BEHIND THIS.
WHAT WOULD YOU TELL SOMEONE OUT THERE THAT MAY BE DIAGNOSED
TODAY OR TOMORROW WITH A RARE DISEASE.
WHAT WOULD BE YOUR WORDS FOR THEM?
THERE REALLY IS A COMMUNITY OUT THERE TO SUPPORT WHETHER YOU ARE
UNDIAGNOSED, RECENTLY DIAGNOSED, OR HAVE BEEN A LONG TIME PATIENT
WITH A RARE DISEASE.
YOU CAN GO ON OUR WEBSITE GLOBALGENES DOT ORG AND YOU CAN
SHARE PATIENT STORIES AND READ OTHER PATIENT STORIES.
YOU KNOW PEOPLE WHO HAVE DISEASES JUST LIKE YOU AND FIND
OUT WHAT NEW TREATMENTS ARE COMING.
LLANA THANK YOU SO MUCH FOR WHAT YOU ARE DOING.
THANK YOU.
GOD BLESS YOU AND GOOD LUCK IN THE WEDDING.
THANKS.
AND TO YOU.
SO WONDERFUL TO SEE YOU.
THANKS...
THANK YOU.
....FOR COMING BACK.
COME BACK WHENEVER YOU WANT.
GOOD LUCK TO BOTH OF YOU.
SO IT'S GREAT INFORMATION AND IF YOU WANT TO LEARN MORE JUST LOG
ONTO OUR WEBSITE THE BALANCINGACT DOT COM FOR MORE
INFORMATION ABOUT RARE DISEASES.
WE ARE ALSO ON FACEBOOK AND TWITTER SO CHECK US OUT.