>> WHAT IS ALAGILLE SYNDROME?
>> CAN YOU TELL ME WHAT IS ALAGILLE SYNDROME?
>> IT'S LIVER DISEASE, BONE DISEASE, HEART DISEASE,
EYE DISEASE, AND KIDNEY DISEASE.
AND A WHOLE BUNCH OF OTHER STUFF.
>> ALAGILLE SYNDROME IS A DISORDER THAT AFFECTS MANY DIFFERENT ORGANS
THROUGHOUT THE BODY.
MOSTLY, WE THINK OF IT AS A LIVER AND A HEART DISEASE,
BUT IT ALSO AFFECTS KIDNEYS, SPINE, EYE, PANCREAS AND OTHER ORGANS.
IT'S AN INCREDIBLY COMPLICATED DISEASE, AND IT'S INHERITED,
IT'S GENETICALLY ENCODED, AND IT'S A DISEASE THAT HAS MANY
DIFFERENT MANIFESTATIONS IN MANY DIFFERENT ORGAN SYSTEMS.
>> WHAT ARE THE SYMPTOMS OF ALAGILLE SYNDROME?
>> MOST TYPICAL PRESENTATION OF ALAGILLE SYNDROME IS THROUGH
THE LIVER DISEASE WHICH IS USUALLY EVIDENT IN THE FIRST
FEW DAYS OR WEEKS OF LIFE.
AND SO THE ALAGILLE SYNDROME HAS BEEN STUDIED MOSTLY
BY LIVER DOCTORS.
BUT THERE ARE OTHER PATIENTS WHO PRESENT JUST WITH THE HEART DISEASE
OR JUST WITH THE KIDNEY DISEASE OR OTHER MANIFESTATIONS.
>> SO WITH MATTHEW HE HAS THE LIVER FINDING.
HE HAS A PULMONARY VALVE AND PULMONARY ARTERY STENOSIS
FROM THE HEART.
HE HAS THE EMBRYOTOXIN IN THE EYES.
HE'S GOT THE CHARACTERISTIC CHIN.
>> SOME OF THE OTHER ISSUES WE'VE STRUGGLED WITH HAVE BEEN JUST
THE ITCHING, THE CONTINUAL ITCHING.
YOU KNOW, IT'S DIFFICULT TO SEE A CHILD WHO SCRATCHES AND CAN'T SEEM
TO GET AT THE ITCH.
>> SHE WAS SEVERELY JAUNDICED.
AND THAT LASTED UNTIL SHE WAS ABOUT EIGHT MONTHS OLD.
WHERE THE MAIN TWO CONCERNS WAS HER HEART AND HER LIVER.
>> THERE CAN BE PATIENTS WHO HAVE VERY SEVERE HEART DISEASE
AND NOT MUCH LIVER DISEASE.
THERE ARE PATIENTS WHO HAVE SEVERE LIVER DISEASE AND NO HEART DISEASE
EXCEPT A HEART MURMUR.
AND THERE ARE PATIENTS THAT HAVE ALL DIFFERENT COMBINATIONS
OF HAVING DIFFERENT ORGANS AFFECTED WITH THIS DISORDER.
AND WE'RE STILL REALLY TRYING TO UNDERSTAND WHY THAT IS THE CASE.
>> WHAT CAUSES ALAGILLE SYNDROME?
>> ALAGILLE SYNDROME IS CAUSE BY MUTATIONS IN A GENE THAT'S CALLED
JAGGED 1.
THIS IS A GENE THAT'S INVOLVED IN THE DEVELOPMENT OF AN EMBRYO
AND THE DEVELOPMENT OF AN EMBRYO'S LIVER, HEART,
KIDNEY, SPINE.
AND WHEN YOU HAVE A MUTATION IN THIS GENE,
IT MAKES ABNORMALITIES IN THE DEVELOPMENT OF THOSE ORGANS.
AND WITHIN EACH OTHER THOSE DIFFERENT ORGANS,
YOU CAN HAVE A WIDE RANGE OF MANIFESTATIONS OR DIFFERENT
FORMS OF DISEASE.
>> DID WE GIVE IT TO OUR CHILD?
>> THERE ARE MANY FAMILIES WHERE ONE PARENT CARRIES
THE GENE, AND THEY GIVE THAT GENE TO THE CHILD.
SO THAT'S A DOMINANT INHERITANCE.
BUT ACTUALLY, IN MORE FAMILIES, THE MUTATION IS NEW IN THE INFANT.
AND SO THERE IS NO ONE ELSE IN THE FAMILY WHO CARRIES A RISK GENE
OR WHO HAS THE DISEASE.
>> WHY ARE SO MANY DOCTORS INVOLVED?
>> TO REALLY PROVIDE COMPREHENSIVE CARE FOR
ALAGILLE SYNDROME, YOU NEED NOT JUST A PEDIATRIC HEPATOLOGIST,
A LIVER DISEASE, YOU NEED ONE WHO CAN WORK WITH A PEDIATRIC
CARDIOLOGIST WHO'S TAKEN AN INTEREST IN OR BECOME
AN EXPERT IN ALAGILLE SYNDROME.
AND THEN THERE'S A GREAT ADVANTAGE TO ALSO BEING ABLE TO COLLABORATE
WITH PEOPLE WHO HAVE EXPERTISE IN ALAGILLE SYNDROME
AND THE MANIFESTATIONS IN NEUROLOGY, NEURODEVELOPMENT,
NEUROSURGERY, ORTHOPEDICS, ENDOCRINOLOGY, NEPHROLOGY,
KIDNEY DISEASE, GROWTH, NUTRITION AND SO ON.
WHEN ALL OF THESE DIFFERENT SPECIALISTS CAN WORK TOGETHER,
THAT'S WHEN A PATIENT WITH ALAGILLE SYNDROME CAN REALLY
GET THE VERY BEST CARE.
>> WHAT WILL HAPPEN TO MY CHILD?
>> RIGHT NOW, WE DO NOT HAVE GOOD BIOMARKERS OR INDICATORS
FOR WHETHER A CHILD WITH ALAGILLE SYNDROME WHEN THEY'RE YOUNG WILL,
FOR INSTANCE, GO ON AND NEED A LIVER TRANSPLANT,
WHETHER THEY'LL HAVE GROWTH PROBLEMS,
WHETHER THEY'LL HAVE OTHER COMPLICATIONS,
NUTRITIONAL COMPLICATIONS.
>> ALAGILLE SYNDROME HAS A GOOD SURVIVAL COMPARED TO MANY OTHER
FORMS OF LIVER DISEASE.
WE EXPECT THAT PATIENTS WILL LIVE A LONG LIFE.
IT CAN BE COMPLICATED, PARTICULARLY IF THEY HAVE
SIGNIFICANT HEART DISEASE.
AND THERE CERTAINLY ARE SOME ISSUES IN ALAGILLE SYNDROME THAT CAUSE
SOME MORBIDITY, SOME SUFFERING FROM THE DISEASE.
BUT WE REALLY DO EXPECT AND HOPE FOR A LONG LIFE
IN ALAGILLE SYNDROME.
>> THERE'S HOPE OUT THERE.
THERE'S SO MUCH RESEARCH THAT'S GOING ON.
AND THINGS ARE GETTING BETTER ALL THE TIME.
>> HOW DO WE TREAT ALAGILLE SYNDROME?
>> TREATMENT FOR ALAGILLE SYNDROME IS REALLY INCREDIBLY COMPLEX.
THE LIVER DISEASE HAS MEDICAL THERAPY THAT CAN HELP SUPPORT
THE LIVER IN ITS FUNCTION.
THERE'S THERAPY THAT CAN REPLACE SOME OF THE FUNCTION OF THE LIVER.
WE HAVE NUTRITIONAL THERAPY THAT HELPS WITH THE PROBLEMS THAT
WE HAVE WITH ABSORPTIONS AND FAT SOLUBLE VITAMINS
AND, IN FAT ABSORPTION THERE ARE SPECIFIC THINGS
THAT WE DO FOR GROWTH AND SUPPORTING GROWTH.
THERE ARE SURGICAL PROCEDURES THAT CAN BE DONE FOR THE COMPLICATIONS
OF THE LIVER DISEASE AND ULTIMATELY, PROBABLY,
ABOUT ONE-FIFTH OF ALL PATIENTS WHO HAVE SIGNIFICANT LIVER DISEASE
FROM ALAGILLE SYNDROME END UP WITH A LIVER TRANSPLANT,
WHICH IS NOW REALLY AN EXCELLENT THERAPY FOR THE LIVER DISEASE
IN ALAGILLE SYNDROME.
>> WHERE CAN WE TURN FOR HELP?
>> FIRST AND FOREMOST MY ADVICE TO ANY PARENT WHO IS JUST RECEIVING
A DIAGNOSIS IS REACH OUT TO THE ALAGILLE ALLIANCE.
REACH OUT, GET AS MUCH INFORMATION AS POSSIBLE.
THERE ARE OTHER FAMILIES OUT THERE, WHO ARE MORE THAN WILLING
AND HAPPY TO HELP IN ANY WAY WE CAN, INCLUDING MYSELF.
I MEAN, REACH OUT VIA EMAIL, PHONE CALL, WHAT HAVE YOU.
JUST REACH OUT TO TRY TO GET AS MUCH INFORMATION AS POSSIBLE.
THERE ARE OTHER PEOPLE OUT THERE THAT ARE LIVING
THE SAME THING YOU ARE.
AND I COULDN'T SAY THAT STRONGLY ENOUGH.
>> WHEN YOU'RE FIRST DIAGNOSED, IT JUST SEEMS LIKE ONE THING
RIGHT AFTER ANOTHER, AFTER ANOTHER, AFTER ANOTHER.
AND I KNOW WE CRIED A LOT.
>> I JUST REALLY THINK-- I CAN REMEMBER HOW LOST WE WERE
AND THAT IT'S NOT THE END.
THERE IS LIGHT AT THE END OF THE TUNNEL.
>> IT'S SUCH A RELIEF TO BE ABLE TO LOOK AT ANOTHER PERSON
AND YOU KNOW WHEN THEY'RE TELLING YOU, “YEAH, I'VE BEEN THERE.”
THEY REALLY HAVE. THEY REALLY HAVE.
>> HOW DO WE COPE?
>> COPING IS ON MANY, MANY, MANY LEVELS, BUT IT HAS TO START WITH YOU.
IF YOU'RE NOT IN A GOOD SPOT, YOU'RE NOT GOING
TO BE ABLE TO GIVE TO THE SICK KIDS.
YOU'RE NOT GOING TO BE ABLE TO GIVE TO THE WELL KIDS.
YOU'RE NOT GOING TO BE ABLE TO GIVE TO YOUR SPOUSE.
>> I THINK THAT ONE OF THE KEYS, THOUGH, WAS REALIZING THAT YOUR
LIFE ISN'T NORMAL.
YOU HAVE TO FIND A NEW NORMAL.
I CALL IT “FINDING A NEW NORMAL.”
>> SO WHAT WE DO IS WE JUST CONSTANTLY SHIFT WHAT IS NORMAL.
NORMAL FOR US IS DOING SCHOOLING IN A CAR ON A THREE-HOUR TRIP
TO THE HOSPITAL.
>> YOU HAVE TO COMMIT THAT YOU'RE GOING TO MAKE IT AS A FAMILY.
YOU HAVE TO COMMIT THAT YOU'RE GOING TO MAKE IT AS A COUPLE,
AND YOU HAVE TO COMMIT THAT YOU'RE GOING TO MAKE IT AS PARENTS.