♪ ♪ ♪ ♪ >> HELLO AND WELCOME TO "INSIDE INTRODUCE YOU TO THE PEOPLE, PLACES AND THINGS THAT MAKE UP KENTUCKY'S LARGEST CITY.

I'M YOUR HOST, KELSEY STARKS.

THIS WEEK WE INTRODUCE YOU TO FAMILIES MAKING A REAL IMPACT WHEN IT COMES TO RARE DISEASES.

FIRST WE INTRODUCE YOU TO THE VICE FAMILY IN LOUISVILLE.

WHILE THEIR SON FIGHTS HIS OWN RARE DISEASE, THEY'RE FIGHTING TIRELESSLY TO FIND A CURE.

IT TURNS OUT A FAMILY FROM RIGHT HERE IN LOUISVILLE PAVED THE WAY FOR THEM MANY YEARS AGO.

FIRST, MEET THE VICES.

>> HE IS A GREAT KID.

HE IS FULL OF LIFE.

FULL OF PERSONALITY.

HE IS A REALLY BIG PERSONALITY IN A REALLY SMALL BODY,.

>> ROBERT VICE IS A LOT LIKE ANY OTHER EIGHT-YEAR-OLD BOY.

HE LOVES SPORTS AND SCHOOL.

HE WANTS TO BE A SCIENTIST WHEN HE GROWS UP.

>> THE FIRST TIME I HEARD ABOUT MORQUIO, I THOUGHT ABOUT BEING A SCIENTIST TO HELP PEOPLE AND GET BETTER MEDICINES FOR PEOPLE.

>> HIS PLAN INCLUDES FINDING A CURE FOR THE DISEASE HE WAS BORN WITH CALLED MORQUIO SYNDROME.

A RARE BIRTH DEFECT THAT AFFECTS ONE IN EVERY 200,000 PEOPLE.

>> HE STARTED OFF JUST LIKE ANY OTHER CHILD, YOU KNOW, THROUGH TWO AND A HALF YEARS OLD.

IN FACT, HE WAS HIGH ON THE GROWTH CHART.

EVERYTHING WAS NORMAL.

TESTING WISE.

BUT WE NOTICED HE HAD A BUMP ON HIS BACK IN THE BATH TUB AND THAT'S ALL IT WAS.

IT WAS JUST A BUMP ON THE BACK.

>> JUST SOMETHING WASN'T RIGHT.

>> WE THOUGHT WE CLEARED ALL OF THE HURDLES.

>> IT TURNS OUT ROBERT WAS BORN WITHOUT AN ENZYME THAT BREAKS DOWN SUGAR CHAINS NATURALLY PRODUCED IN THE BODY.

OVER TIME, THOSE CHAINS ACCUMULATE AND CAUSE DAMAGE INSIDE TO EVERYTHING FROM CELLS TO BONES.

>> HE MIGHT NOT REACH THREE AND A HALF FEET TALL SO WE ARE TALKING EXTREME SHORT STATURE AND, WHEN UF GOT, YOU ARE TRYING TO FIT THE LUNGS, THE HEART, THE ORGANS IN, IT CAUSES A LOT OF PROBLEMS.

>> MEDICINE, SURGERY, CATS.

HARDWARE.

MORE SURGERIES.

>> SINCE HIS DIAGNOSIS AT TWO AND A HALF YEARS OLD, ROBERT HAS HAD SURGERIES ON HIS NECK AND LEGS, WHICH MEANT EYE NECK BRACE FOR SIX MONTHS, A FULL BODY CAST FOR SIX WEEKS.

AND WEEKLY ENZYME TREATMENTS LASTING FIVE TO SEVEN HOURS EACH WEEK, WHICH KEEP THE SUGARS FROM BUILDING UP IN HIS CARDIOVASCULAR SYSTEM AND ORGANS.

>> WELL, LOOK AT ME.

>> I WAS VERY NAIVE TO ALL THE THINGS THAT WERE OUT THERE.

I MEAN, A YOUNG MOM, WOULD YOU HEAR OF THE BIG THINGS, REALLY SCARY CANCER WORD, RIGHT?

AND SO MY MIND WAS GOING, COULD IT BE THAT THAT?

NOW THAT WE HAVE BEEN ON THIS JOURNEY, MY EYES HAVE BEEN OPENED UP TO ALL THE THINGS, ALL THE RARE DISEASES.

>> MORQUIO IS ONE OF 10,000 KNOWN RARE DISEASES AND ITS FAMILY OF DISEASES KNOWN AS MPS, IS AMONG THE 5% THAT ARE CONSIDERED TO HAVE A TREATMENT.

>> THERE IS STILL MULTIPLE THREATS THE DISEASE POSES TO THE BODY THAT COULD ULTIMATELY LEAD TO EITHER SEVERE DISABILITY OR DEATH.

WE ARE GOING THE RIGHT DIRECTION, BUT WE ARE NOT THERE.

>> WHEN IT COMES TO RARE DISEASES, FUNDING FOR RESEARCH IS HARD TO COME BY.

BIG PHENOMENON COMPANIES PHARMACEUTICAL COMPANIES DON'T SEE IT AS A FINANCIALLY SOUND INVESTMENT AND THE APPROVAL PROCESS IS PAINFULLY SLOW.

THE FUNDING MOST OFTEN COMES FROM FAMILIES LIKE THE VICES, WHO DON'T HAVE TIME TO SPARE.

>> WE ALSO KNEW IT WAS PROGRESSIVE AND I THINK THAT'S WHAT IS SO HARD ABOUT THIS DISEASE IS IT'S JUST GETTING WORSE.

IT'S NOT GETTING BETTER.

AND SO KNOWING THAT IS LIKE OKAY, WE CAN DO THIS NOW BUT WHAT ARE WE NOT GOING TO BE ABLE TO DO NEXT YEAR.

IT'S BEEN HARD BUT IT'S BOUGHT US TIME.

>> THE VICE FAMILY CREATED ROOTING FOR ROBERT, THE ONLY ORGANIZATION IN THE WORLD FOCUSED ON FINDING A MORQUIO CURE.

>> YOU DON'T WANT TO GO ON THIS JOURNEY.

THIS WAS NOT SOMETHING THAT WE ASKED FOR AND YOU HATE TO SEE YOUR SON GO THROUGH IT.

BUT AGAIN THERE ARE SILVER LININGS AND IT'S INCREDIBLE WHAT THE LOUISVILLE AND KENTUCKY COMMUNITY HAVE DONE FOR US AND FOR ROBERT AND FOR KIDS WITH MORQUIO RIGHT NOW.

I MEAN WE'VE GOT SEVERAL TREATMENTS THAT ARE IN PROCESS, YOU KNOW, STUDIES AND TWO IN CLINICAL TRIAL.

WE HAVEN'T HAD ANY CLINICAL TRIALS IN 15 YEARS FOR THIS DISEASE AND A LOT HAS BEEN JUMP STARTED WITH SUPPORT FROM AROUND HERE.

>> SINCE 2021 THEY'VE RAISED MORE THAN $1.6 MILLION, ALMOST EXCLUSIVELY FROM THE LOUISVILLE COMMUNITY.

NOW THEY THINK THEY CAN HELP A LOT MORE PEOPLE THAN JUST ROBERT.

>> THE OPPORTUNITIES ARE THERE TO START TO REALLY PUSH FORWARD THE TREATMENTS.

AND THE TECHNOLOGY IS THERE AND IF YOU HAVE AN ADVANCEMENT IN ONE DISEASE, IT VERY LIKELY COULD LEAD TO AN ADVANCEMENT IN ANOTHER.

WE THINK THAT AFFECTING-- BEING ABLE TO CURE ONE DISEASE, EVEN THOUGH IT'S A SLIGHTLY DIFFERENT ICE DECEMBER, YOU SHOULD BE ABLE TO APPLY THE CONCEPTS ELSEWHERE.

>> THAT'S WHAT HAPPENS WHEN IT COMES TO RARE DISEASE RESEARCH.

FINDING WHAT WORKS AND WHAT DOESN'T HELPS NARROW THE FIELD FOR ALL DISEASES.

>> I WANT HIM TO LIVE A FULL, HEALTHY HAPPY LIFE AND HIS HEALTHY IS DIFFERENT.

>> HELMET.

CHECK.

STAND, CHECK.

PEDALS CHECK.

>> I KNOW HIS LIFE IS GOING TO COME WITH CHALLENGES, PHYSICAL CHALLENGES.

I WANT HIM TO BE ABLE TO BE SUCCESSFUL AND I KNOW HIS BRAIN CAN DO THAT.

AND I WANT HIS BODY TO BE GOOD ENOUGH TO KEEP UP WITH HIS BRAIN.

>> LET'S GO.

>> MARK DANT IS ANOTHER PARENT ADVOCATE.

HIS SON RYAN WAS DIAGNOSED WITH MPS-1 WHEN HE WAS THREE YEARS OLD.

NOW THAT WAS BACK IN 1991, AND AT THAT TIME, DOCTORS TOLD HIM THERE WAS NO CURE, NO TREATMENT AND HIS SON LIKELY WOULDN'T LIVE PAST 10 YEARS OLD.

WELL, TODAY RYAN IS 35 YEARS OLD , A UNIVERSITY OF LOUISVILLE GRADUATE, AND JUST GOT MARRIED.

MARK DANT IS THE FORMER BOARD CHAIR FOR THE EVERY LIFE FOUNDATION FOR RARE DISEASES.

TALK ABOUT A PARENT ADVOCATE WHO MADE A DIFFERENCE, IN FACT, ROBERT'S TREATMENTS ARE REALLY ALL BECAUSE OF YOU, AND YOUR SON.

SO TELL US HOW-- TELL US THE BEGINNINGS OF RYAN'S STORY.

>> SURE.

>> WE GIVE ALL THE CREDIT TO THE SCIENTISTS.

HE WAS THE ONE THAT DEVELOPED THE TREATMENTS AND CONTINUED TO PUSH FORWARD.

RYAN WAS YOUR NORMAL HAPPY, HEALTHY SMILING THREE AND A HALF-YEAR-OLD LITTLE BOY WHO LOVED LIFE AND LOVED BASEBALL.

WE TOOK HIM TO THE DOCTOR FOR A PHYSICAL AND THE DOCTOR FELT THERE WAS SOMETHING NOT QUITE RIGHT ABOUT HIS APPEARANCE.

HE MADE AN APPOINTMENT WITH THE GENETICIST.

AFTER A SERIES OF TEST, FOUND THAT RYAN AS THIS ULTRARARE CONDITION NO ONE HAS HEARD OF, INCLUDING OURSELVES, CALLED MUK MUCHPOLYSACCHARIDOSIS TYPE 1.

HE TOLD US RYAN WOULD PASS AWAY AT THE AGE OF 10 AND THERE WERE NO TREATMENTS.

THERE WERE NO SCIENTISTS WORKING ON TREATMENTS THERE WOULD BE NO DRUG COMPANIES BECAUSE THE SYSTEM DOESN'T ALLOW FOR DRUGS TO BE DEVELOPED FOR ULTRARARE CONDITIONS WHERE THE RETURN ON INVESTMENT WOULD NOT BE THERE.

WE WERE TOLD BASICALLY TO TAKE RYAN HOME.

BE WITH HIM AND LOVE HIM BECAUSE THERE WAS NOTHING WE COULD DO.

>> AS A PARENT I CANNOT FATHOM HEARING THAT, BUT YOU SPRANG INTO ACTION AND YOU DECIDED THAT YOU WERE GOING TO FIND A TREATMENT AND YOU STARTED RAISING MONEY AND IT STARTED WITH THE BAKE SALE.

>> CORRECT.

WHEN I LOOK BACK ON IT NOW, I THINK THAT WAS THE SILLIEST IDEA EVER.

>> BUT IT HAS TO START SOMEWHERE.

>> I LIKE TO SAY WE SPRANG INTO ACTION, BUT AS A PARENT HEARS THE STORY THAT YOUR FUTURE IS LEAVING YOU, AND THAT, BECAUSE IT WAS A GENETIC DISEASE, ANY CHILDREN IN THE FUTURE WOULD HAVE A ONE IN FOUR CHANCE OF HAVING RYAN'S DISEASE, WHICH, TO US, AS PARENTS, WE HEARD WE WOULD HAVE A ONE IN FOUR CHANCE OF BURYING ANOTHER CHILD BECAUSE THERE WAS NO HOPE.

SO EVERY DAY AFTER WORKING OR BEFORE WORK, I WOULD GO TO THE PUBLIC LIBRARY BECAUSE THESE WERE THE DAYS BEFORE THE INTERNET.

AND I WOULD READ EVERYTHING I POSSIBLEBLY COULD ON MPS AND ON RESEARCH AND ON SCIENCE.

BUT I DID STUMBLE ACROSS A BOOK ON HOW TO START A NON-PROFIT.

WE WOULD GO HOME AND AT NIGHT, EVERY SINGLE NIGHT FOR A YEAR, WE LAID ON THE FLOOR NEXT TO RYAN'S BED, LISTENING TO HIM SLEEP.

NOT SLEEPING OURSELVES.

EVERY SINGLE NIGHT FOR A YEAR, WE WOULD RUN THROUGH OUR MINDS ALL THE DREAMS THAT WOULD NEVER HAPPEN.

THE DREAMS OF RYAN GETTING HIS DRIVER'S LICENSE, GOING TO THE PROM, GRADUATING HIGH SCHOOL.

COLLEGE, GETTING MARRIED ONE DAY.

HAVING OUR GRANDKIDS.

ALL OF THAT WAS PUSHED AWAY BECAUSE IT WAS TOO PAINFUL TO THINK ABOUT THOSE MOMENTS.

BUT WHEN WE HAD THAT SILLY LITTLE BAKE SALE THAT RAWZED $342, FRIENDS CAME TOGETHER WHO BELIEVED SOMETHING COULD HAPPEN WITH ACTION, THAT HOPE WOULD COME WITH HELP.

HOPE CAME WITH HELP BECAUSE THEY ALL STAYED WITH US.

THEY NEVER QUIT WE FOUND THE FUNDS AND EVENTUALLY, WE FOUND THIS SCIENTIST.

>> SO TALK ABOUT THIS SCIENTIST THAT YOU FOUND AND SAID PLEASE HELP ME.

AND THEY DID.

BUT IT'S SO DIFFICULT AS YOU MENTIONED TO GET THAT TYPE OF FUNDING AND TO GET THE SCIENTISTS AND RESEARCHERS TO GET ON BOARD WITH THESE RARE DISEASES WHY IS THAT?

>> BECAUSE THERE IS NO MONEY SCIENTISTS HAVE THE DRIVE TO FIND THE ANSWER BUT THEY DON'T HAVE SOMETHING THAT WE AS A COMMUNITY CAN HELP THEM FIND AND THAT'S FUNDING.

NATIONAL INSTITUTES OF HEALTH GRANTS PUSH THE SCIENCE FORWARD BUT THERE ARE NOT ENOUGH GRANTS TO PUSH THE SCIENCE INTO THE CLINIC.

A SAYING SAYS FROM THE BENCH TO THE BED SIDE, FROM THE SCIENTIFIC BENCH TO THE TREATMENT OF THE BED SIDE.

THE GAP IN ULTRARARE DISEASES AND RARE DISEASES IS THAT FUNDING GAP.

AND THAT'S WHERE FRIENDS CAN HELP.

I TALKED ABOUT WHAT WE DID IN DALLAS.

IT WAS THE FRIENDS IN DALLAS THAT SPENT THEIR OWN TIME TO HELP RYAN BUT SO MANY PEOPLE CAME HERE FROM KENTUCKY AND MY WIFE AND I GREW UP HERE IN LOUISVILLE.

THE PEOPLE IN KENTUCKY HAVE A GIVING SPIRIT.

COMPANIES LIKE TIME AND TRANSPORTATION FROM LOUISVILLE KENTUCKY, CAME TO DALLAS AND SPONSORED EVENTS.

FRIENDS-- WE HAD DONATIONS FROM A FRIEND AT G.E., FRIENDS AT FRITO-LAY, RIGHT HERE IN LOUISVILLE, HELPING A CHILD WITH A DISEASE THEY'VE NEVER HEARD ABOUT IN ANOTHER STATE.

BUT THOSE GIFTS TURNED INTO AUCTION AND MONEY THAT WENT RIGHT STRAIGHT TO THE SCIENTIST WHO DEVELOPED THE DRUG WHO CHANGED THE FUTURE FOR CHILDREN AROUND THE WORLD.

>> SO THIS ENZYME TREATMENT THAT WAS DEVELOPED BECAUSE OF RYAN-- EXPLAIN A LITTLE BIT HOW THAT WORKS.

>> SURE, THESE KIDS WITH THESE DISEASES, LYSOSOMAL DISEASE.

THEY HAVE 40 ENZYMES AND IF ONE OF THOSE ENZYMES IS MISSING, WHATEVER THE ENZYME IS SUPPOSED TO TEAR DOWN, IT STAYS AND MUCKS UP THE WHOLE SYSTEM AND OVER A PERIOD OF TIME, THE CELLS CLING TOGETHER IN A THICK GELATIN LIKE SUBSTANCE IN EVERY CELL OF THE BODIES FROM BONES LIKE ROBERT, TO THE HEART VALVES, BRAIN, LIVER, SPLEEN, EVERYTHING, HEART.

UNLESS YOU CAN PUT BACK IN THE SYSTEM SOMETHING THAT WE ALL MAKE OURSELVES, THAT CHILD WILL PASS AWAY WITH TIME.

SO THESE DRUGS PUT-- DEVELOPED IN THE CLINIC-- PUT BACK IN THE SYSTEM WHAT THE CHILD CAN'T MAKE.

EVERY WEEK IN A FOUR-HOUR I.V., RYAN NOW FOR 26 YEARS AND ROBERT NOW FOR A COUPLE OF YEARS, PUTS-- SCIENCE PUTS BACK IN THE SYSTEM WHAT THESE KIDS CAN'T MAKE AND THEY'RE ABLE TO GROW AND DEVELOP AND BRING BACK THOSE DREAMS THAT MY WIFE AND I HAD BURIED SO LONG AGO.

>> AND RYAN, ALTHOUGH IN THE SAME FAMILY, THE MPS FAMILY, IT'S A LITTLE BIT DIFFERENT FROM ROBERT'S CONDITION BECAUSE YOU SAW A COGNITIVE DECLINE.

>> YES, SO BY JUNIOR HIGH OR HIGH SCHOOL, RYAN COULD READ LIKE THE REST OF US BUT COULDN'T REALLY REMEMBER WHAT HE READ.

ONE OF THE SCIENTISTS TOLD ME IT'S LIKE THE REST OF US READING A PAGE OF NUMBERS.

WE CAN READ IT LEFT AND RIGHT BUT AT THE END OF THE STORY, IF THERE IS NO STORY, RYAN COULDN'T CONNECT IT BECAUSE HE COULDN'T REMEMBER.

SO WE FUNDED ANOTHER TRIAL AT UCLA TO TRY TO SEE IF WE COULD DEFEAT THE BLOOD-BRAIN BARRIER AND WASH OUT THE STORED MATERIALS IN HIS BRAIN.

IT DIDN'T WORK FOR ALL THE CHILDREN IN THE TRIAL.

DIDN'T WORK ENOUGH TO PS THE FDA SYSTEM BUT IT WORKED FOR RYAN.

WE PUT HIM BACK-- HE WASN'T ABLE TO PASS JUNIOR COLLEGE IN DALLAS BUT AFTER STARTING THIS TREATMENT, HE WENT BACK TO JUNIOR COLLEGE, GOT HIS ASSOCIATE'S DEGREE.

THE UNIVERSITY OF LOUISVILLE OFFERED HIM A SCHOLARSHIP TO WORK WITH THE EQUIPMENT STAFF ON THE FOOTBALL MUCH AND WE HAVE PICTURES OF HIM ON THE FIELD.

AND WHEN LAMAR LEFT, HIS LAST DAY AFTER GOING OFF TO THE NFL DRAFT, HE CAME BACK IN THE LOCKER ROOM AND HUGGED RYAN AND WE GR HAVE A GREAT PICTURE OF LAMAR AND RYAN.

KENTUCKY IS A GREAT PLACE TO LIVE AND LOUISVILLE IS A GREAT PLACE TO BE AND THAT'S WHY WE ARE BACK.

IT'S A GIVING STATE AND GIFTS HERE CHANGED RYAN'S LIFE FOREVER, JUST LIKE THEY'RE DOING ROBERT.

>> YOU SAY THE SCIENCE IS THERE.

THE TECHNOLOGY IS THERE AND SO MANY TIMES THERE ARE TRIALS THAT ARE WORKING, BUT THERE IS JUST A LOT OF BARRIERS STILL AND THAT'S WHAT YOU DO NOW WITH THE EVERY LIFE FOUNDATION FOR RARE DISEASES, RIGHT?

>> YES.

IT'S A COMBINED VOICE.

YOU KNOW, AROUND THE WORLD, IN THE U.S., FOR INSTANCE, ONE IN 10 AMERICANS HAVE A RARE DIS50ES DISEASE, DISEASES MOST OF US HAVE NEVER HEARD OF AND WILL NEVER HEAR OF.

IF YOU HAVE AN ULTRARARE DISEASE LIKE ROBERT AND RYAN, HAS ANYONE EVER HEARD ON MUCHPOLYSACCHARIDOSIS?

NO, AND THEY NEVER WILL.

BUT IF WE COMBINE OUR FORCE WITH MPS 1 AND MPS 3, 4, 6 AND 7, ALL THE LOSOSOMAL DISORDERS, COMBINE OUR VOICE, WE CAN MAKE CHANGES IN POLICY.

AND THAT WILL EVENTUALLY MAKE CHANGES IN THE SPEED OF DRUGS IMPROVED, DRUGS THAT CAN TREAT AND CHANGE THE OUTCOMES.

WE DON'T HAVE CURES BUT GOOD SCIENCE ALLOWS OUR CHILDREN TO GROW TO BE HERE WHEN BETTER SCIENCE COMES.

BETTER SCIENCE IS COMING.

>> AND WE HEARD A LITTLE BIT FROM ROBERT'S FAMILY, HOW THE HOPE IS THAT ONE TREATMENT FOR ONE DISEASE SNOWBALLS INTO TREATING MANY OTHER DISEASES.

>> WHAT A GREAT POINT.

RYAN'S DISEASE, HIS TREATMENT FOR MPS-1, ENZYME REPLACEMENT THERAPY, BECAUSE OF THAT, NOW WE HAVE TREATMENTS ON THE SAME TYPE OF PLATFORM FOR HUNTER SYNDROME, MORE MORQUIO, LIKE ROBERT, SHY SYNDROME, FABRA SYNDROME, POMPEII SYNDROME.

THE LIST GOES ON AND ON.

GREAT SCIENCES HELPS OTHER SCIENCE LEARN FROM IT AND DRUGS ARE DEVELOPED FROM THAT, DRUGS THAT TREAT AND CHANGE LIVES.

>> SO WHAT ARE KIND OF SOME OF THE CHALLENGES RIGHT NOW THAT YOU ALL FACE, PARTICULARLY WHEN IT COMES TO THAT FDA APPROVAL, SEEMS TO BE A BIG BARRIER.

>> SURE, WE MENTIONED EARLY WHEN RYAN WAS DIAGNOSED.

WE WERE TOLD WHEN I WAS REALLY GRILLING THEM THAT MD Ph.D KNEW HIS BUSINESS.

WHAT DO YOU MEAN THERE WON'T BE ANY SCIENCE OR DRUG IN RYAN'S LIFETIME?

THE FIRST TIME I HEARD IN RARE DISEASE, THE RETURN ON INVESTMENT IS JUST NOT THERE.

IT SOUNDS HARSH BUT IN REALITY, IF YOU WERE GOING TO INVEST IN A COMPANY WITH QOOR YOUR OWN MONEY, WOULD YOU INVEST IN A COMPANY THAT THE MARKET SIZE OF A $120 MILLION IS MAYBE TWO PATIENTS?

PROBABLY NOT.

SO WHY IS IT $120 MILLION?

THAT'S JUST A NUMBER THAT GROWS.

BECAUSE IT TAKES SO LONG TO GET THROUGH THE SYSTEM SPECIFICALLY WITH BRAIN DISEASE AND BONE DISEASE.

WE DON'T GROW IT LIGHT YEARS FAST.

BRAIN DISEASES OFTEN TIMES ARE VERY SLOW MOVING FORWARD BUT THEY DO DECLINE.

BONE VERY SLOW IN GROWING, SO DO WE RUN A TRIAL FOR THREE YEARS, FIVE YEARS?

10 YEARS?

SOME TRIALS ARE RUNNING FOR 10 YEARS AT MILLIONS OF DOLLARS EVERY YEAR.

TAKING OUT AT THE END, SO LONG STORY SHORT, THE RARE DISEASE DRUG INVESTMENT WILL GO AWAY UNLESS WE CAN SPEED THE PROCESS OF DRUG DEVELOPMENT IN THE FDA.

THERE ARE WAYS TO DO THAT.

>> WHAT ARE SOME OF THE WAYS YOU ARE TRYING TO DO THAT.

>> TO HAVE SOMETHING VERY OBJECTIVE.

A BIO MARKER.

WITH RYAN AND ROBERT'S DISEASE, THEY'RE STORING MATERIAL.

WHAT IF YOU GOT RID OF THAT MATERIAL, STORING LESS OF IT?

YOU COULD PROBABLY TEST FOR THAT.

IF YOU CAN LINK THAT STORED MATERIAL TO THE DISEASE AND YOU TAKE IT AWAY, THEN OBVIOUSLY THAT'S AN OBJECTIVE WAY OF MEASURING COGNITIVE DECLINE IF IT'S CALLED HEPARIN SULFATE IN THE BRAIN OR CAROTIN SULFATE IN THE BONES FOR ROBERT.

IF YOU LESSEN THAT STORAGE, THE BODY AND BRAIN SHOULD IMPROVE.

THE CURRENT SYSTEM SAYS IT'S NOT ACCEPTING THAT CERTAIN TYPE OF BIO MARKER EVEN THOUGH SCIENTISTS TODAY WILL SCREAM FROM THE HIGHEST MOUNTAIN, THIS IS A STORED MATERIAL.

GET RID OF IT.

SUBSTRAIGHT, THE CHILD WILL IMPROVE.

WE NEED TO HELP OUR FDA UNDERSTAND THAT IN CANCER TREATMENTS, IN CANCER DRUGS, WE WOULD NEVER HAVE A TRIAL WHERE HALF THE PATIENTS DON'T GET TREATED.

AND THE OTHER HALF DO GET TREATED JUST SO WE CAN SEE THE HALF THE PATIENTS DON'T GET TREATED IF THEY GET WORSE.

THEY'RE GOING TO GET WORSE AND THEY'RE GOING TO DIE AND HAVE IRREVERSIBLE DAMAGE.

DISEASES LIKE ROBERTS AND RYANS AND MANY OTHER DISEASES, IF YOU DON'T TREAT THEM, THEY WILL GET WORSE.

BUT THE FDA, THEY'RE NOT DOING IT OUT OF MALICE.

IT'S JUST THEIR SYSTEM.

THEY BELIEVE THAT HALF OF THE PATIENTS SHOULD BE NOT TREATED AND WATCH THEM GET WORSE SO WE CAN PROVE THIS DRUG IS MAKING A DIFFERENCE.

AND THE SECOND TRIAL, ON RYAN'S DRUG IS AN EXAMPLE.

TWO SISTERS, YOUNG GIRLS WERE IN THE TRIAL.

ONE OF THE SISTERS, IT WAS A DOUBLE BLIND PLACEBO TRIAL.

NOBODY KNOWS WHO IS GETTING THE DRUG AND WHO ISN'T.

ONE OF THE SISTERS WAS AT THE END OF ABOUT TWO MONTHS, STARTED PUSHING HER OLDER SISTER IN THE HOSPITAL EVERY WEEK IN A WHEELCHAIR.

THEY BOTH WENT IN IN WHEELCHAIRS, NOW ONE IS PUSHING THE OTHER.

WHO GOT THE DRUG AND WHO DIDN'T.

THE PATIENT CAN OFTEN TIMES TELL AND THE BIO MARKER CAN TELL OBJECTIVELY WITHOUT HAVING TO HAVE THE DOUBLE BLINDED PLACEBO CONTROLLED TRIALS.

THAT ALONE WILL SPEED THE TRIAL, CUT OUT PROBABLY YEARS IN THE DEVELOPMENT PROCESS, WHICH WILL KEEP MONEY BACK IN RARE INVESTMENT MONEY BACK IN AND DISEASE ALTERING DRUGS CAN BE DEVELOPED WITH SPEED AND EFFICIENCY.

>> SEEMS LIKE A SIMPLE SOLUTION.

>> YES.

>> BUT I KNOW IT IS QUITE THE FIGHT.

AND ANOTHER THING THAT YOU ALL HAVE BEEN ABLE TO DO IS INCLUDE THIS IN NEWBORN SCREENINGS.

LET'S TALK A LITTLE BIT ABOUT THAT.

AND THAT IS NOT HAPPENING IN EVERY STATE.

BUT IT IS IN KENTUCKY.

>> YES.

KENTUCKY LEADS MANY STATES IN ADDING NEW TESTS TO THEIR PANEL AS OFTEN AS POSSIBLE DOUG IS VERY GOOD AT THAT.

ONE OF THE FIRST STATES TO INCLUDE MPS-1 IN THEIR PANELS FOR IN KENTUCKY WAS KENTUCKY.

BECAUSE THEY SEE THE VALUE IN ONCE THE FEDERAL GOVERNMENT DECIDES THAT THE SCIENCE IS SOUND, THE TREATMENT, BECAUSE TO ADD A DISORDER TO A FEDERAL PAM PANEL, THERE HAS TO BE A TREATMENT AVAILABLE.

FOR ROBERT'S THERE IS A TREATMENT.

FOR RYAN'S THERE IS A TREATMENT.

SO THEY ADDED MPS-1 TO THE FEDERAL PANEL AND KENTUCKY SAUDI WE'LL ADD IT TO OURS.

FROM THAT POINT TWO TO THREE YEARS AGO, KENTUCKY STARTED TESTING FOR MPS-1.

AND THERE HAVE BEEN A COUPLE INFANTS FOUND TO HAVE IT SO THEY HAVE A BONE MAR MARROW TRANSPLANT OR STEM CELL TRANSPLANT AND/OR GO ON ENZYME REPLACEMENT THERAPY FROM BIRTH.

THE OUTCOMES OF THAT CHANGE ALONE, STUDIES WHERE CHILDREN HAVE BEEN TESTED, STARTED ENZYME AT THREE MONTHS, SIBLINGS STARTED AT FOUR YEARS BECAUSE THE SIB LIPPING WAS OLDER.

THEY-- THE SIBLING WAS OLDER.

THEY FOLLOWED THE BROTHER AND SISTER TWO 12 YEARS.

WE STARTED TREATMENT AT ALMOST AT BIRTH, CAN'T EVEN TELL HE HAS THE DISEASE NOW.

THAT'S THE CHANGE THAT KENTUCKY IS PUTTING IN WITH ADDING SCREENS FOR NEWBORN SCREENING SO WE CAN HELP OUR BABIES FROM BIRTH.

AND ALSO HELPS MOM AND DAD.

THE DIAGNOSTIC ODYSSEY OF GOING FROM DOCTOR TO DOCTOR, THERE IS SOMETHING WRONG WITH MY SON, THIS DOCTOR DOESN'T KNOW AND THIS DOCTOR DOESN'T KNOW.

THIS DOCTOR MISDIAGNOSED NOT OUT OF ANYTHING THAT THEY'RE TRYING BUT THE WRONG DYING DIAGNOSIS.

AT BIRTH THROUGH GENETIC SCREENING WE CAN TELL IF THE CHILD HAS THE DISORDER AND TREAT FROM THAT POINT FURTHER.

>> THAT'S INCREDIBLE.

THERE ARE STILL, LIKE ROBERT'S FAMILY MENTIONED, THIS TREATMENT IS CONSIDERED A TREATMENT.

BUT IT IS NOT A CURE.

AND ROBERT STILL IS GOING TO SURF WITH-- ROBERT IS STILL GOING TO SUFFER WITH SURGERY.

HIS BONES ARE PARTICULARLY DETERIORATING AND I KNOW THAT'S DIFFERENT FROM RYAN'S CONDITION.

BUT WHAT ARE SOME THINGS THAT ARE STILL NEED TO HAPPEN TO HELP THESE CHILDREN AND ALL CHILDREN WITH RARE DISEASES?

>> SURE, THERE ARE MANY DIFFERENT TUBS IN SIGH THANS IN SCIENCE, NEW IDEAS HOW TO TREAT, GENE THERAPY WE'VE HEARD ABOUT.

BUT GENE THERAPY DOES WORK.

THERE HAVE BEEN APPROVALS OF GENE THERAPY.

RYAN SENT ME AN ARTICLE LAST WEEK, A LITTLE BOY WHO WAS TREATED WITH GENE THERAPY, HE WAS BLIND.

AND YET ONE INJECTION OF THIS VECTOR THAT TOOK THE GENE THAT HE CAN'T MAKE HIMSELF INTO HIS EYES, HE CAN NOW SEE.

THIS SCIENCE CAN BE DEVELOPED IN A LAB AND FROM THE BENCH TO THE BED SIDE THE PATIENT CAN BE TREATED.

BUT AGAIN IT GOES BACK TO HOW MANY FRIENDS DO WE HAVE?

HOW MANY PEOPLE CAN SAY THAT PIRN'S LIFE-- THAT PERSON'S LIFE MATTERS TO ME.

I CAN'T GIVE A MILLION DOLLARS BUT CAN I GIVE SOME TIME.

I CAN GIVE A LITTLE BIT-- I CAN GIVE SOMETHING FROM MY COMPANY, AND ALL OF THAT, NO MATTER HOW SMALL, ABSOLUTELY, WITH YOU THE QUESTION,-- WITHOUT QUESTION, I STILL PICTURE THE PEOPLE COMING TO THE BAKE SALE AND THINKING, THEY'RE BUYING A CUPCAKE.

WHAT DIFFERENCE DOES THAT MAKE?

AND NOW I SEE RYAN AT 35 YEARS OLD.

IT MADE A DIFFERENCE.

>> AND THE AMOUNT OF PEOPLE THAT THIS TREATMENT HAS HELPED AROUND THE WORLD, YOU SAID YOU HEAR FROM PEOPLE ALL OVER THE WORLD.

>> YES.

>> 72 COUNTRIES.

>> 72 COUNTRIES WORLDWIDE TREAT CHILDREN WITH MPS-1 ALL BECAUSE OF THE SCIENTIST WHO NEVER QUIT.

FRANKLY, I HAVE TO GIVE CREDIT TO GOLF.

A GOLF MANUFACTURER, BARNEY ADAMS WHO WAS NOBODY BECAUSE HE WAS SO SMALL BUT HE STEPPED UP AND SAID I'M MAKING NEW CLUBS HERE.

YOU SHOULD HAVE AN AUCTION.

WE HAD AN AUCTION.

THIS IS 1993.

HE ACTUALLY HAD AN IPO THAT LAUNCHED HIS COMPANY CALLED ADAM'S GOLF.

HE STAYED WITH US FOREVER, BROUGHT HIS FRIENDS IN, BROUGHT IN MORE MONEY AND REALLY SPED THE SCIENCE ALONG.

THE VICES ARE BASICALLY DOING THE SAME THING HERE.

WITHOUT QUESTION THEY'RE DOING THE SAME THING EXCEPT THEY'RE DOING IT MUCH BETTER THAN WE EVER DID.

>> WELL, IT'S ALL BUILDING ON THE BACKS OF THOSE WHO CAME BEFORE THEM AND YOU ARE THAT.

>> YES.

>> SO WHAT IS RYAN UP TO NOW?

TELL US ABOUT HIS LIFE NOW?

>> SO HE IS A HOMEOWNER.

HE MOVED INTO THEIR FIRST HOME LAST THANKSGIVING.

THAT'S JUST ANOTHER REMARKABLE STORY.

HIS WIFE, SYLVIA, IS A FOURTH GRADE BILINGUAL TEACHER IN ARLINGTON, A SUBURB BETWEEN DALLAS AND FORT WORTH, HOME OF THE TEXAS RANGERS.

THEY'RE BOTH BIG FANS.

THAT'S WHERE THEY MET, GOING TO BASEBALL GAMES.

RYAN WORKS NOW IN THE BIOTECH COMPANY REMOTELY FROM FORT WORTH.

HE WORKS FOR A COMPANY IN SAN FRANCISCO LOOKING FOR PATIENTS FOR THIS ULTRARARE CONDITION CALLED ENGLY-IS, A GENE THERAPY THAT IS GOING TO BE INPATIENT IN THE NEXT FEW WEEKS WHICH IS HUGE.

HE IS GIVING BACK TO SOCIETY BECAUSE FRIENDS AND FAMILY AND SOCIETY AND SCIENTISTS GAVE TO HIM WHAT WE COULDN'T, WHICH WAS NOT KNOWING WHAT IS GOING TO HAPPEN TOMORROW.

A GIFT WE ALL HAVE.

WHEN RYAN WAS DIAGNOSED WE WERE TOLD HE WOULD PASS AWAY BY THE TIME HE WAS 10.

WITHIN 10 YEARS.

THAT WAS HORRIBLE.

THAT WAS THE END OF EVERYTHING.

NOW HE DOESN'T KNOW WHAT IS GOING TO HAPPEN AND THAT'S THE GREATEST GIFT EVER.

♪ ♪ ♪ ♪ DON'T FORGET YOU CAN WATCH AND SHARE THIS EPISODE ANY TIME.

WE ARE STREAMING AT KET.ORG/"INSIDE LOUISVILLE."

THANKS FOR SPENDING A LITTLE TIME GETTING TO KNOW LOUISVILLE THIS WEEK.

I HOPE WE'LL SEE NEXT TIME.

UNTIL THEN, MAKE IT A GREAT WEEK.

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