One Boy’s Rare Disease Brings Gene Discovery


{rtf1ansiansicpg1252cocoartf1038cocoasubrtf360
{fonttblf0fswissfcharset0 Helvetica;} {colortbl;red255green255blue255;}
margl1440margr1440vieww9000viewh8400viewkind0 pardtx720tx1440tx2160tx2880tx3600tx4320tx5040tx5760tx6480tx7200tx7920tx8640qlqnaturalpardirnatural f0fs24 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. }

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