Marfan Syndrome - Rare Disease

At times I will explore rare diseases not directly impacting someone in my immediate family. I want people to be aware of the wide variety of rare diseases that exist, the variety of symptoms they can have and that they all have wide reaching impacts on the patients that have them and their families. All rare diseases deserve a louder voice, more education and advocacy.

Today I will look at Marfan Syndrome affects as many as 200,000 (1 in 3,000 to 5,000) people in the US and does not discriminate based on gender or ethnicity. As I have stated before less than 10% of rare diseases have treatments/cures and while there are treatments that can help some of the symptoms one may experience with this illness, there is no cure it.

I am using https://marfan.org/ my main source for information today.

Marfan syndrome is a genetic condition affecting one's connective tissues holding the body's cells, organs and tissues together and helping the body grow and develop properly.

It is often diagnosed when one is young, but as with all rare diseases can go undiagnosed or misdiagnosed for years. As it is a potentially life-threatening condition an early and accurate diagnosis is essential.

Marfan is diagnosed after taking a full family history and physical exam. A person with Marfan can present as abnormally tall and lean with long limbs, over-flexibility of joints, stretch marks not related to weight gain/loss, overcrowded teeth, curved spine, and protruding or caved in breastbone. Other internal health issues involving the heart, lungs and eyes may be present so an echocardiogram, EKG, eye exam and genetic testing can be involved in the diagnostics.

Day to day treatment of Marfan would depend on which symptomss the patient presents with and treating those. Once diagnosed it is important that should someone need any kind of medical treatment, surgery or emergency intervention that they let medical providers know about Marfan syndrome as working with people with connection tissue disorders many times requires specific protocols and that certain emergency precautions are put in place. Patients must be aware of increased risks for aorta aneurysm (250 times greater), retinal detachment, and a suddenly collapsed lung.

As with any chronic illness, a diagnosis of Marfan syndrome can make life more complicated, but with proper diagnosis, treatments as necessary and precautions, one can live a full life. It is important to educate ones self on the possible complications. It is also very important to take care of ones mental health, having a support system that understands what the patient is going through and educates themselves too. There are support groups available and mental health professionals to help people with chronic illness navigate the variety of feelings they may feel.

Once again, my information came from https://marfan.org/ and I encourage anyone wanting more information on Marfan syndrome to visit their website and contact them for more information.