One Boy's Rare Disease Brings Gene Discovery


Uploaded by KPBSSanDiego on 01.03.2012

Transcript:
{\rtf1\ansi\ansicpg1252\cocoartf1038\cocoasubrtf360 {\fonttbl\f0\fswiss\fcharset0 Helvetica;}
{\colortbl;\red255\green255\blue255;} \margl1440\margr1440\vieww9000\viewh8400\viewkind0
\pard\tx720\tx1440\tx2160\tx2880\tx3600\tx4320\tx5040\tx5760\tx6480\tx7200\tx7920\tx8640\ql\qnatural\pardirnatural
\f0\fs24 \cf0 >> Peggy: MASON'S DAD RECORDED\ \page THIS VIDEO THE MOURN HIS WIFE\
TOLD HIS SON A SAN DIEGO\ RESEARCHER FOUND THE CAUSE OF\
HIS RARE AND LIFE THREATENING\ DISORDER.\
>> AND I KNEW THAT THERE WAS ONE\ IN YOUR BODY THAT WAS HAVING ALL\
OF THESE PROBLEMS AND COULDN'T\ FIND IT THEY FOUND IT.\
>> Peggy: YOU CAN SEE WHEN\ 10-YEAR-OLD MASON REALIZES THE\
IMPLICATIONS FOR HIM AND OTHERS\ WHO HAVE DISORDERS OF CDG.\
>> YOU ARE GOING TO BE FIXED.\ IT MEANS PROBABLY THERE WILL BE\
DAYS YOU DON'T HAVE A TUBE ALL\ THE TIME.\
IT MEANS THAT WHEN OTHER KIDS\ GET SICK LIKE THIS THEY WON'T\
HAVE TO LOOK SO MUCH.\ THEY WILL KNOW WHERE TO GO.\
>> Peggy: A FEW MONTHS LATER\ MASON AND HIS FAMILY TRAVELED\
FROM THEIR HOME IN PENNSYLVANIA\ TO LA JOLLA TO MEET THE DOCTOR\
WHO DISCOVERED THE GENE\ RESPONSIBLE FOR HIS SEVERE\
MEDICAL PROBLEMS.\ >> WE HAVE A PICTURE OF THE\
WHOLE LAB WEARING OUR "MASON\ HOPE" T SHIRTS.\
>> HE SAID HE WANTED TO COME AND\ SHAKE THE DOCTOR'S HAND.\
THAT'S WHY WE'RE HERE.\ >> DISCOVERING MASON'S GENE SETS\
YOU UP TO THE BASIC SCIENCE AND\ SAY HERE IS SOMETHING WE NEVER\
THOUGHT ABOUT BEFORE.\ WE HAVE NO IDEA HOW THIS WORKS.\
>> Peggy: FREEZE HOPES THE GENE\ DISCOVERY WILL LEAD TO NEW\
TREATMENTS.\ IN THE MEANTIME MASON AND HIS\
FAMILY JOINED OTHERS FOR A TOUR\ OF THE LAB AND A CHANCE TO TALK\
TO RESEARCHERS FROM AROUND THE\ COUNTRY.\
>> RARE DISEASES PROVIDE ROSETTA\ STONES FOR UNDERSTANDING MORE\
ABOUT PHYSIOLOGY AND COMMON\ \page DISORDERS.\
>> Peggy: CGD IS FAR FROM\ COMMON.\
>> HE WAS BORN WITH A CLEFT\ PALATE AND A SMALL JAW.\
WE DIDN'T KNOW THAT HE HAD AS\ MANY SEVERE PROBLEMS THAT HE HAD\
UNTIL THE FIRST NIGHT OF HIS\ BIRTH.\
WHEN HE QUIT BREATHING.\ >> THIS HELPS NE BREATH.\
>> Peggy: AND CDG MAKES IT\ IMPOSSIBLE FOR MASON TO SUSTAIN\
LIFE SUSTAINING BLOOD SUGAR\ LEVELS.\
FIVE TIMES A DAY HE INGESTS\ SUGAR COCKTAIL THROUGH HIS\
STOMACH.\ >> I CAN'T DO A LOT -- I CAN'T\
RUN FOR A LONG TIME.\ LIKE OTHER PEOPLE.\
>> Peggy: STILL HE'S ABLE TO\ PLAY BALL HAD W. HIS 14-YEAR-OLD\
BROTHER, A TENDS SCHOOL DAILY\ AND GETS GOOD GRADES.\
>> HE HAS PROVEN HE WILL BEAT\ THIS.\
HE MAKES IT VERY EASY TO GO ON.\ >> Peggy: ERIC GREEN DIRECTOR OF\
THE HUMAN GENOME INSTITUTE SAYS\ MASON'S RESEARCH AND RESPONSE\
WILL BE PART OF THE GENETIC\ DATABASE FOR THE NATIONAL\
INSTITUTE OF HEALTH.\ >> WE HAVE SET UP SEVERAL\
SPECIALIZED CENTERS WHO WILL\ TAKE IN SAMPLES FROM AROUND THE\
WORLD WITH RARE GENETIC DISEASES\ AND USE STATE OF THE ART GENOME\
SEQUENCING AND METHODS THAT WE\ BELIEVE WILL INDUSTRIALIZE THE\
CAUSE OF THESE RARE DISORDERS.\ >> Peggy: MEANWHILE MASON IS\
SOAKING UP ALL THAT SOUTHERN\ CALIFORNIA HAS TO OFFER.\
>> WE WENT TO LEGOLAND,\ DISNEYLAND, THE ZOO AND SEA\
WORLD.\ >> Peggy: ALL THE WHILE LIVING\
BY HIS BEST FRIEND'S MOTTO.\ \page TAKE A CHANCE.\
>> I HAVE A DOG.\ >> WHAT'S YOUR DOG'S NAME.\
>> CHANCE.\ HE'S MY BEST FRIEND.\
}