Overview of Marfan Syndrome
Marfan syndrome is a genetic connective tissue disorder that affects both men and women equally, impacting an estimated 50,000 Americans. It can lead to serious complications, including aortic enlargement and potential rupture, which can be fatal.
Personal Story
Tara Cortez shares her family's journey after her husband, Ozzy, was diagnosed with Marfan syndrome in 2015. Their oldest son, Zayden, also tested positive for the gene mutation, while their youngest son, Xavier, did not. The couple was aware of the 50/50 chance of their children inheriting the condition when they decided to have kids.
Medical Insights
Dr. Roman Yusupov, a medical geneticist, explains that Marfan syndrome can often go undetected until adolescence when physical signs become more apparent, such as long limbs. Genetic testing can be performed prenatally or at birth, especially if there is a family history of the condition. For more information on genetic testing, you can refer to our summary on Understanding Tay-Sachs Disease: Causes, Symptoms, and Management.
Treatment and Management
Ozzy has undergone four open-heart surgeries, and the family is focused on early intervention for Zayden, who is already experiencing aortic enlargement. Zayden takes daily medication to slow the growth of his aorta, and his mother emphasizes the importance of routine doctor visits and diagnostic testing. This highlights the need for awareness of conditions like Understanding Sickle Cell Disease: Causes, Symptoms, and Treatments that also require early intervention and management.
Research and Support
Research for a cure is progressing, aided by funds raised during events like the annual Marfan walk. Local 10 participates in these efforts, encouraging community support for ongoing research and awareness. Understanding the role of genetic conditions in broader contexts can be further explored in our summary on Understanding Lysosomes and Their Role in Lysosomal Storage Disorders.
MONDAY, THERE WE GO AGAIN. KRISTI? >> THERE WE GO AGAIN. KRISTI? >> THERE WE GO AGAIN. IN OUR HEALTHCAST TODAY, A >> THERE WE GO AGAIN. IN OUR HEALTHCAST TODAY, A FOCUS ON A GENETIC HEART
IN OUR HEALTHCAST TODAY, A FOCUS ON A GENETIC HEART CONDITION THAT AFFECTS AN FOCUS ON A GENETIC HEART CONDITION THAT AFFECTS AN ESTIMATED 50,000 AMERICANS, CONDITION THAT AFFECTS AN ESTIMATED 50,000 AMERICANS, BOTH MEN AND WOMEN EQUALLY.
ESTIMATED 50,000 AMERICANS, BOTH MEN AND WOMEN EQUALLY. HERE IS HOW DOCTORS IDENTIFY BOTH MEN AND WOMEN EQUALLY. HERE IS HOW DOCTORS IDENTIFY AND HELP PATIENTS FIGHT THIS HERE IS HOW DOCTORS IDENTIFY AND HELP PATIENTS FIGHT THIS POTENTIALLY DEADLY CONDITION.
AND HELP PATIENTS FIGHT THIS POTENTIALLY DEADLY CONDITION. >> WHEN TARA CORTEZ’S HUSBAND POTENTIALLY DEADLY CONDITION. >> WHEN TARA CORTEZ’S HUSBAND WAS DIAGNOSED IN 2015, THE >> WHEN TARA CORTEZ’S HUSBAND WAS DIAGNOSED IN 2015, THE COUPLE WASN’T ACTUALLY THAT
WAS DIAGNOSED IN 2015, THE COUPLE WASN’T ACTUALLY THAT SURPRISED. COUPLE WASN’T ACTUALLY THAT SURPRISED. >> IT WASN’T A SHOCKER, IT WAS SURPRISED. >> IT WASN’T A SHOCKER, IT WAS MORE LIKE A CONFIRMATION.
>> IT WASN’T A SHOCKER, IT WAS MORE LIKE A CONFIRMATION. >> THEIR OLDEST SON ALSO MORE LIKE A CONFIRMATION. >> THEIR OLDEST SON ALSO TESTED POSITIVE FOR THE SAME >> THEIR OLDEST SON ALSO TESTED POSITIVE FOR THE SAME GENE MUTATION.
TESTED POSITIVE FOR THE SAME GENE MUTATION. THEIR YOUNGEST SON XAVIER DID GENE MUTATION. THEIR YOUNGEST SON XAVIER DID NOT. THEIR YOUNGEST SON XAVIER DID NOT. >> WHEN WE DECIDED TO HAVE
NOT. >> WHEN WE DECIDED TO HAVE CHILDREN, WE KNEW THERE WAS A >> WHEN WE DECIDED TO HAVE CHILDREN, WE KNEW THERE WAS A 50/50 CHANCE OF THEM COMING CHILDREN, WE KNEW THERE WAS A 50/50 CHANCE OF THEM COMING OUT WITH THE SYNDROME, BUT IT
50/50 CHANCE OF THEM COMING OUT WITH THE SYNDROME, BUT IT WAS A RISK WE WERE WILLING TO OUT WITH THE SYNDROME, BUT IT WAS A RISK WE WERE WILLING TO TAKE. WAS A RISK WE WERE WILLING TO TAKE. >> DR. ROMAN, A MEDICAL
TAKE. >> DR. ROMAN, A MEDICAL GENETICIST SAYS THE CONDITION >> DR. ROMAN, A MEDICAL GENETICIST SAYS THE CONDITION IS A CONNECTIVE TISSUE GENETICIST SAYS THE CONDITION IS A CONNECTIVE TISSUE DISORDER THAT CAN CAUSE AN
IS A CONNECTIVE TISSUE DISORDER THAT CAN CAUSE AN ENLARGEMENT OF THE AORTA. DISORDER THAT CAN CAUSE AN ENLARGEMENT OF THE AORTA. >> YOU DON’T KNOW ABOUT IT ENLARGEMENT OF THE AORTA. >> YOU DON’T KNOW ABOUT IT BECAUSE YOU DON’T HAVE ANY
>> YOU DON’T KNOW ABOUT IT BECAUSE YOU DON’T HAVE ANY SYMPTOMS. BECAUSE YOU DON’T HAVE ANY SYMPTOMS. BUT UNFORTUNATELY, IT MAY SYMPTOMS. BUT UNFORTUNATELY, IT MAY CREATE AN ANEURYSM AND IT CAN
BUT UNFORTUNATELY, IT MAY CREATE AN ANEURYSM AND IT CAN RUPTURE CAUSING SUDDEN DEATH. CREATE AN ANEURYSM AND IT CAN RUPTURE CAUSING SUDDEN DEATH. >> THE DOCTOR SAYS IT HAPPENS RUPTURE CAUSING SUDDEN DEATH. >> THE DOCTOR SAYS IT HAPPENS IN 1 OUT OF EVERY 20,000
>> THE DOCTOR SAYS IT HAPPENS IN 1 OUT OF EVERY 20,000 BIRTHS. IN 1 OUT OF EVERY 20,000 BIRTHS. EQUALLY IN ALL RACES AND BIRTHS. EQUALLY IN ALL RACES AND ETHNIC GROUPS.
EQUALLY IN ALL RACES AND ETHNIC GROUPS. >> IF THERE IS FAMILY HISTORY, ETHNIC GROUPS. >> IF THERE IS FAMILY HISTORY, GENETIC TESTING CAN BE DONE >> IF THERE IS FAMILY HISTORY, GENETIC TESTING CAN BE DONE EVEN PRENATALLY OR A NEWBORN
GENETIC TESTING CAN BE DONE EVEN PRENATALLY OR A NEWBORN BABY. EVEN PRENATALLY OR A NEWBORN BABY. BUT FREQUENTLY, WE DISCOVER BABY. BUT FREQUENTLY, WE DISCOVER THAT SOMEBODY MAY HAVE THE
BUT FREQUENTLY, WE DISCOVER THAT SOMEBODY MAY HAVE THE SYNDROME AFTER ABOUT FIVE THAT SOMEBODY MAY HAVE THE SYNDROME AFTER ABOUT FIVE YEARS OF AGE OR OLDER. SYNDROME AFTER ABOUT FIVE YEARS OF AGE OR OLDER. >> THAT’S WHEN THE EXTERNAL
YEARS OF AGE OR OLDER. >> THAT’S WHEN THE EXTERNAL SIGNS BECOME MORE EVIDENT, >> THAT’S WHEN THE EXTERNAL SIGNS BECOME MORE EVIDENT, INCLUDING LONG LIMBS. SIGNS BECOME MORE EVIDENT, INCLUDING LONG LIMBS. >> I’M BIGGER THAN EVERY OTHER
INCLUDING LONG LIMBS. >> I’M BIGGER THAN EVERY OTHER 7-YEAR-OLD. >> I’M BIGGER THAN EVERY OTHER 7-YEAR-OLD. >> HE’S GONE THROUGH FOUR OPEN 7-YEAR-OLD. >> HE’S GONE THROUGH FOUR OPEN HEART SURGERIES AND THEY’RE
>> HE’S GONE THROUGH FOUR OPEN HEART SURGERIES AND THEY’RE HOPING THAT EARLY INTERVENTION HEART SURGERIES AND THEY’RE HOPING THAT EARLY INTERVENTION WILL HELP HIM AVOID SERIOUS HOPING THAT EARLY INTERVENTION WILL HELP HIM AVOID SERIOUS COMPLICATIONS.
WILL HELP HIM AVOID SERIOUS COMPLICATIONS. >> AT 7, HIS AORTA WAS ALREADY COMPLICATIONS. >> AT 7, HIS AORTA WAS ALREADY LARGE. >> AT 7, HIS AORTA WAS ALREADY LARGE. AT 5:00, IT WAS THE SIZE OF A
LARGE. AT 5:00, IT WAS THE SIZE OF A 12-YEAR-OLD’S. AT 5:00, IT WAS THE SIZE OF A 12-YEAR-OLD’S. >> HE TAKES DAILY MEDICATIONS 12-YEAR-OLD’S. >> HE TAKES DAILY MEDICATIONS TO SLOW DOWN THE GROWTH OF HIS
>> HE TAKES DAILY MEDICATIONS TO SLOW DOWN THE GROWTH OF HIS AORTA. TO SLOW DOWN THE GROWTH OF HIS AORTA. >> I PUT MY PILLS IN MY AORTA. >> I PUT MY PILLS IN MY CHOCOLATE BECAUSE MY PILLS
>> I PUT MY PILLS IN MY CHOCOLATE BECAUSE MY PILLS TAKE VERY NASTY. CHOCOLATE BECAUSE MY PILLS TAKE VERY NASTY. >> WE’RE TRYING TO STOP ALL TAKE VERY NASTY. >> WE’RE TRYING TO STOP ALL THE THINGS THAT DAD HAS HAD TO
>> WE’RE TRYING TO STOP ALL THE THINGS THAT DAD HAS HAD TO GO THROUGH. THE THINGS THAT DAD HAS HAD TO GO THROUGH. HE’S LUCKY TO BE HERE TODAY. GO THROUGH. HE’S LUCKY TO BE HERE TODAY. WE’RE TRYING TO STOP ALL THOSE
HE’S LUCKY TO BE HERE TODAY. WE’RE TRYING TO STOP ALL THOSE THINGS FROM HAPPENING TO OUR WE’RE TRYING TO STOP ALL THOSE THINGS FROM HAPPENING TO OUR SON. THINGS FROM HAPPENING TO OUR SON. >> RESEARCH THAT COULD LEAD TO
SON. >> RESEARCH THAT COULD LEAD TO A CURE IS ADVANCING RAPIDLY >> RESEARCH THAT COULD LEAD TO A CURE IS ADVANCING RAPIDLY THANKS TO MONEY RAISED DURING A CURE IS ADVANCING RAPIDLY THANKS TO MONEY RAISED DURING THE ANNUAL WALK IN MAY.
THANKS TO MONEY RAISED DURING THE ANNUAL WALK IN MAY. LOCAL 10 ALWAYS PARTICIPATES
Marfan syndrome is a genetic connective tissue disorder that affects both men and women equally. It impacts an estimated 50,000 Americans and can lead to serious complications, such as aortic enlargement and potential rupture, which can be life-threatening.
Marfan syndrome can often go undetected until adolescence when physical signs, like long limbs, become more apparent. Genetic testing can be performed prenatally or at birth, especially if there is a family history of the condition.
Treatment for Marfan syndrome often involves regular monitoring and may include medications to manage symptoms, such as slowing the growth of the aorta. In some cases, surgical interventions, like open-heart surgeries, may be necessary.
The video features Tara Cortez, who shares her family's journey after her husband, Ozzy, was diagnosed with Marfan syndrome. Their son Zayden also tested positive for the gene mutation, highlighting the genetic implications of the condition.
Community support is crucial for ongoing research into Marfan syndrome. Events like the annual Marfan walk help raise funds and awareness, contributing to the progress of research for a cure.
Early intervention is vital for children with Marfan syndrome, as it can help manage symptoms and prevent serious complications. Regular doctor visits and diagnostic testing are essential for monitoring their health.
For more information on related genetic conditions, you can refer to summaries on topics like Tay-Sachs Disease and Sickle Cell Disease, which also emphasize the importance of early intervention and management.
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