Know the signs. Fight for victory.
Marfan Syndrome has forever touched my heart and I hope to bring awareness to others that may not know about this syndrome. February is Marfan Syndrome Awareness month and I would love to get a little information out there that could potentially save your life or someone that you care about.
Meet Tess. My spunky, brave, and tiny 6 year old daughter. Four years ago she was diagnosed with Marfan Syndrome which pretty much rocked our world. For those that are unfamiliar with Marfan Syndrome, it is a genetic disorder that affects the body’s connective tissue. Unfortunately her aorta is affected and is showing signs of dilation, but we have a wonderful team at Children’s Luries that work with us to keep Tessa safe and healthy. I am inspired daily by her determination and strength and look forward to watching her thrive.
What is Marfan?
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.
Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.
Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
Approximately 200,000 people in the country have Marfan or a related disorder, but experts say that half are not diagnosed and are at risk of a sudden early death from a tear in their aorta, the large blood vessel that takes blood away from the heart. Most people with Marfan syndrome exhibit outward signs (such as disproportionate height, long arms and legs, hypermobile joints, indented or protruding chest bone, curved back) that should lead them to get a medical evaluation. And, with a diagnosis and treatment, affected people can live a long lifespan. The Foundation’s goal for Marfan Awareness Month is for everyone – from doctors to nurses to teachers to the general public – to be able to say “I Know Marfan.”
If you are searching for information on this syndrome please visit The Marfan Foundation at www.marfan.org.
#iknowmarfan | www.marfan.org
Laurie Baker with Elle Baker Photography is a Chicago Child Photographer located in Homer Glen, Illinois near Chicago.