A Real Life Look into Genetics: Former Miss Teen Maine Speaks to BIO 350 about Marfan Syndrome

Miss Teen speaking to genetics classA Former Miss Teen Maine recently visited the BIO 350 Concepts and Application of Genetics course and spoke about living with a genetic disorder know as Marfan syndrome. The course is taught by Dr. Michelle Smith, an assistant professor in the School of Biology & Ecology and the research in the STEM Education Center (RiSE Center), which introduces students to the chromosomal, biochemical and molecular basis of inheritance.

To help students understand abstract concepts in genetics, Dr. Smith’s teaching philosophy includes an emphasis on interactive learning and stresses the importance of real life examples that she hopes students will carry beyond her class.

“I hope that this class may be a reality check for my students, to have them realize that they are going to need this genetics class when having children, or having loved ones diagnosed with cancer or other genetic diseases, I hope that students will be able to call upon their knowledge from this class in the future.” -Dr. Michelle Smith

As part of this strategy to interlink genetics with real-world scenarios, Dr. Smith recently welcomed the former Miss Teen Maine, who coincidentally is also named Michelle Smith and her mother Blue Smith to speak to her class. Michelle Dawn Smith is a student at Southern Maine community college, studying business administration with a concentration in entrepreneurship.

On the surface, Michelle Dawn Smith seems like an average college student; self-driven and confident, but what you can’t see is her life threatening syndrome that wreaks havoc on her life causing many daily difficulties and medical complications. She has Marfan syndrome, a serious genetic disorder of the connective tissue. During Michelle’s speech in Dr. Smith’s genetics class, she described the difficulties she faces on a daily basis living with Marfan syndrome.

Marfan syndrome is a genetically inherited syndrome, which results from mutations that occur in the fibrillin 1 gene located on chromosome 15. This protein is responsible for the elasticity of the body’s connective tissues. This defect results in an increase in a protein called transforming growth factor beta, or TGF?. The increase of this particular protein causes problems with the connective tissues throughout the body, causing numerous medical complications. Genetic testing for Marfan syndrome is currently not routine, so the initial diagnosis is typically made through a series of clinical evaluations.

This disorder, still unknown to many medical professionals, affects many organ systems, including the skeleton, lungs, eyes, skin, heart, and blood vessels. A very serious area of the body that is affected by this disorder is the heart and blood vessels. Marfan syndrome can cause an enlarged aorta; which is the blood vessel that carries blood away from the heart. Separation of the layers of the aorta can cause the walls to tear, resulting in what is known as an aortic dissection, often misinterpreted by medical professionals as a heart attack. A person with Marfan syndrome has a 250 times greater risk for an aortic dissection, with an 80% mortality rate. Individuals with Marfan syndrome live with this reality, that at any time, if too much stress is put on their heart, it could give out.

There are a few obvious physical characteristics that are commonly associated with Marfan syndrome, like slenderness, unusually long arms, legs, fingers, and toes. They also generally have a very low percentage of muscle mass, often being misidentified by others as suffering from anorexia nervosa. Often affected individuals will be double jointed and have an either inward or outward curvature to their chest bone. Also mild to severe curvature of the spine, and in some more extreme cases, scoliosis will be present. Other common physical characteristics are flat feet, and sight and eye complications. Michelle embodies many of these physical characteristics including abnormally long arms, feet, and toes, low muscle mass, double jointed, and a severe case of scoliosis.

The Bio 350 students had a positive reaction to having Michelle Dawn Smith visit the classroom. “Michelle seems to embrace her genetic disorder,” said Lance Lajoie, a BIO 350 student, observed. “She has really good spirits and a great sense of humor. I was impressed by her ability to stand in front of a group of people and show all these “tricks” she could do as a result of having longer appendages/fingers. It takes a lot for someone to be able to do that and I admire her self-confidence.” Lances comments reflected Dr. Smith’s overall goals for welcoming Michelle Dawn Smith into her class. “I wanted the students to see that people with genetic disorders are all around us. To be able to observe Michelle’s energy and enthusiasm for themselves, and see that just because a person has a genetic disorder, it does not dictate how they have to live their life” said Dr. Smith.

About 1 out of every 5,000 people are affected by Marfan syndrome, but misdiagnosis and general lack of knowledge on the disorder gives scientists the idea that there is a much greater percent of the population affected by the disorder.

Michelle’s mother searched for an answer to her questions about her daughter’s health for five years, while many doctors assured her she had a perfectly healthy child. At one point her mother was accused of having Munchausen by proxy, a psychological disorder that involves the exaggeration of illness or symptoms of another person by their primary care taker.

Michelle Dawn Smith does not see Marfan syndrome as a disability, but rather uses her experiences to raise awareness to others about Marfan syndrome, and gives hope to individuals that were born with the genetic syndrome. She encourages these individuals to embrace their differences and to not to be ashamed of them. Furthermore, she is a lead advocate for Hands Saving Hearts, a campaign to help people recognize the common physical characteristics of those affected by Marfan syndrome. “Knowing you live, not knowing you die” is Michelle’s mantra for about raising awareness for Marfan syndrome.