Marfan Syndrome Michele Scott Period 3

Cause Caused by defect in a gene called Fibrillin-1 Fibrillin-1 play important role in the building of elastic tissue Usually syndrome is inherited 30% of cases have no family history Called sporadic cases Result of new gene defect

Symptoms Effects mainly the lung tissue, aorta, eyes, and skin Along with many symptoms Many symptoms including the following: A chest that sinks in or sticks out Flat feet Scoliosis Hyptonia Etc. Approximately 0.02% of population have syndrome Equally in all ethnicities and sexes

Treatment With proper diagnoses and treatment life expectancy is in the early to mid 70’s Without proper care its in the 40’s These treatments include: Medication Regular echocardiograms of entire aorta Surgery Unfortunately there is no cure for this syndrome

Affects on Family Parents and siblings may feel angry, sad, and guilt Even though they did not cause the Finrillin-1, for it is a gene defect Families will also have to take more care of their family member with the syndrome Lots of medical attention Lots of medical bills/money

By learning about the Marfan Syndrome and other syndromes and diseases, I have learned that I am lucky, to be healthy, safe, and to have food and snacks…and to see people with this diseases and syndromes who can’t go through life with the same advantages as me makes me upset, almost angry. So when you have the chance to do something amazing like travel, or go bungee jumping…yea cool things. Or normal like going to the movies or playing outside, just take advantage of your advantages.

References http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/ http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455/