Tick, Tick...BOOM, the movie, reminds us of the importance of early diagnosis and treatment of genetic aortic disorders to save lives
TORONTO, Nov. 18, 2021 /CNW/ - On November 19, Netflix releases the highly anticipated movie Tick, Tick...BOOM, a dynamic biopic of Jonathan Larson. Larson, the brilliant composer of the Broadway hit RENT, died from an aortic dissection and is believed to be caused by undiagnosed Marfan Syndrome – a condition which significantly affects the connective tissue of the body and the aorta, the most important artery in the body.
Like Larson, many people yet undiagnosed with genetic aortic disorders do not know they are at risk. Larson's untimely death at age 35 was the result of a misdiagnosis. Having visited two different emergency rooms over two days for chest pain, dizziness and shortness of breath, Larson was sent home with a diagnosis of flu or stress.
If Larson had received the proper diagnostic tests -- aortic dissections and aneurysms are detected by echocardiography (ECHO), computed tomography (CT) and magnetic resonance imaging (MRI) -- when he visited the ER two days before his death, a surgical repair of his aorta could have saved his life.
The Genetic Aortic Disorders Association Canada (GADA Canada) believes that knowledge and awareness is essential to saving lives like Larson's. Its mission is to share aortic education and end premature deaths through essential, life-saving early diagnosis. It also actively promotes and supports international research to identify new genetic aortic disorders and establish evidence-based treatment guidelines.
To date, over 16 unique genetic disorders that affect the aorta have been identified and are included as part of GADA's research program, the Montalcino Aortic Consortium (MAC).
Lindsey Rusche, the vice-president of GADA Canada's board of directors, received such an early diagnosis at 9 years old. This meant her aortic health has been actively monitored throughout her life – leading to the lifesaving, proactive treatment of an aortic dissection via open heart surgery at age 28.
"Diagnosis saved my life" says Rusche, "and its why I volunteer with GADA Canada to promote awareness, share education and support the essential research work that GADA facilitates. As Canada's only patient advocacy organization supporting all genetic aortic disorders, our continued support of patients and families is essential. Knowing that we may have helped save just one life, means everything."
About GADA Canada – Genetic Aortic Disorders Association Canada
GADA is dedicated to saving lives and enabling a promising future for individuals living with all genetic aortic disorders through awareness, education, support, and research.
Several genetic disorders are known to increase the risk of aortic dissections, syndromes like Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, ACTA2 and many more. Identifying the specific genetic cause for aortic dissections can help predict the timing for preventive aortic surgery, further reducing the high morbidity and mortality associated with undiagnosed aortic dissections.
About the Montalcino Aortic Consortium (MAC)
MAC is an international consortium of specialists with a range of multidisciplinary expertise in aortic disease, including pediatric and adult cardiologists, clinical geneticists, cardiovascular surgeons, genetic researchers, and radiologists. MAC was initiated and co-founded by GADA Canada in 2013 around the need for international research cooperation in the study of genetic diseases that affect the aorta and its major branches. MAC experts participate in a global research registry to identify optimal diagnostic and therapeutic guidelines for each genetic aortic disorder (GAD) to improve the life-expectancy of affected individuals and who facilitates an International genetic research registry focused on genetic aortopathy.
For more about aortic dissections and genetic aortic disorders, visit gadacanada.ca or contact [email protected]
For more information and genetic aortic research visit www.montalcinoaorticconsortium.org
SOURCE Genetic Aortic Disorders Association Canada
For all media inquiries, interviews, or comment, please contact: Lindsey Rusche, GADA Canada, [email protected], 647-991-7747
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