Marfan, Do You Have It?
April 3, 2009 | Family
Today we have a guest blogger, Bruce Klein, President Northern Illinois Marfan Chapter. I hope you all read what Bruce has to say. It is life saving.
This is the year of Abraham Lincoln’s 200th birthday, which brings on my question;
What do Marfan Patients and Abraham Lincoln Have in Common?
Abe Lincoln was thought to have Marfan syndrome. What is this dreaded disease?
Marfan syndrome is a connective tissue disorder discovered by Dr. Antoine Marfan in 1896 in France when he treated several children with this disorder.
This sometimes inherited condition effects approximately 1 in every 5000 people in the U.S. While only sometimes inherited, it’s been proven that 75% of the cases diagnosed are inherited and the other 25% of the cases are a new spontaneous mutation at birth.
Researchers today have learned that this condition is caused by a mutation of certain chromosomes that effect a protein called fibrillin. Fibrillin is the glue that holds our bodies or connective tissue together and is found throughout us from head to toe. Like in most syndromes and diseases there are varying degrees of Marfan syndrome from mild cases to severe and life threatening. Diagnosis of Marfan syndrome is often missed by doctors who do not have experience in treating patients with this disorder. We have 5 established clinics in the Chicagoland area which will be posted in this blog Monday, April 6.
Some symptoms of Marfan syndrome are:
Taller than Average Long Thin Face
Hyper-mobility of All Joints
A Disproportionment of Body, Arm & Leg Length
Long Fingers and Toes
Eye, Lens Dislocation
Curvature of the Spine
Chest Deformity (Pectus Excavatum or Carinatum)
Heart Murmur & Aortic Artery Dilation (Aneurysms) which can be fatal
If you know someone with 3 or more of these symptoms please tell them about Marfan syndrome and help us save a life.
For more information go to the website for the National Marfan Foundation, www.marfan.org. You can also email or call us at our chapter voice mail number listed above in our letterhead.
How do I know so much about Marfan syndrome? I have it and I am.
Bruce C. Klein, President
Northern Illinois Marfan Chapter
The Northern Illinois NMF Chapter
1328 Court “O”
Hanover Park, IL 60133
630-415-0044 or 1-800-8-MARFAN
Thank you all for your time. Please return on Monday when Bruce will have more on this life threatening disorder.