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Although more than 200,000 people around the country have been diagnosed with Marfan Syndrome, it’s still a condition that many residents of Mount Vernon and elsewhere aren’t very familiar with.
And even though in some cases, the condition may cause heart problems that can trigger a rapid death, it isn’t necessarily a condition that will always lead to palliative care or hospice care later in life.
The team at Above and Beyond Home Health Care and Hospice also try to be familiar with Marfan Syndrome, so we can recognize the possible signs and encourage someone to make an appointment with a health care provider to discuss if they haven’t already. Or, someone may have already been diagnosed earlier in life so they might need different levels of support or care.
In some cases, family members of a client may already have been diagnosed, so we may encourage our client to get everyone else checked out since it’s a genetic disease that may be passed down to some and not others or affects different family members in different degrees.
As a condition that can worsen over time, it’s a useful idea to be diagnosed and learn more about it.
Defining Marfan Syndrome
According to the Mayo Clinic, Marfan Syndrome is a genetic abnormality that causes connective tissue to grow differently in various parts of the body. About 1 in 5,000 Americans may suffer from this.
This tissue, or fibers, are often responsible for supporting organs, bones, muscles and the body’s structure.
Because these fibers are growing in different directions and are generally more elastic, people with Marfan Syndrome may appear that some of their features and extremities are stretched out. This includes longer than average fingers, toes, arms, and legs, flexible joints plus flat feet. He or she might be taller and more slender than average or have a larger head, chin or skull.
But it also can lead to skeletal problems, such as a longer but curved spine, crowded teeth, or a breastbone that may stick out or appear pushed in. Problems with eyes are fairly common, including nearsightedness and occasional pressure.
Symptoms may show up at any age. Sometimes it starts at adolescence or may emerge later in life especially if it’s something that has appeared in other family members.
Parents have a 50 percent chance of passing it on to each child but it also can be acquired by people who may not have a direct parent with it or a close relative with it.
In many cases, some aspects of Marfan Syndrome can be treated, everything from various braces to physical therapy to surgical intervention. Some medications also may be able to assist or help stabilize some symptoms.
While someone with Marfan Syndrome may experience self-consciousness or emotional stress due to their appearance, medical professionals are most concerned about its possible effect on the heart.
As the body grows in unexpected directions, this could cause physical damage to the aorta, which is the artery that carries blood to the heart. The actual heart could be damaged as well due to the condition and cause the organ to not work as well or internal bleeding which could cause disruptions throughout the body.
These conditions could be potentially life-threatening.
WebMD said heart murmurs or unusual palpitations are also possible for people with Marfan Syndrome, which could also be considered dangerous.
An EKG, chest X-ray or echocardiogram may be able to detect if these conditions are taking place in the area of the heart, and surgery may be required to repair the heart or any blood vessels.
A provider also may prescribe beta-blockers to help control the heartbeat or reduce blood pressure inside the chest.
If you’re not aware of Marfan Syndrome or don’t know much about it, February presents an excellent opportunity to learn more and even get involved in spreading the word.
It’s officially Marfan Awareness Month, an annual celebration and global awareness campaign created by the Marfan Foundation.
The foundation has a variety of goals each year, but the main ongoing one is to encourage people to get checked out, especially those who may have some of the symptoms but have never been diagnosed.
Getting tested can tell you that you’re clear so you don’t have to worry anymore. Or if you are diagnosed with it, you can make an appointment with your provider or receive a referral to a specialist who may have more familiarity with the syndrome or related conditions.
Being aware that you have the condition can also encourage providers to look closely at your cardio health and for everyone to be aware of higher risks, what to do if problems take place or what treatment options are encouraged.
The Marfan Foundation has come up with a variety of other activities to help spread the word this year, including a social media messaging campaign, awareness events in different communities around the country, and even a limited edition “I Know Marfan” T-shirt which can be purchased and ordered from the awareness month site.