I often downplay the pain and strenuousness of daily life with Marfan Syndrome, but many who have been diagnosed don’t have that luxury. Their pain and procedures surpass mine 100 fold and daily living can be hard. I’ve connected with Marfan family’s whose young children have had rods placed in their backs, new lenses in their eyes, and of course open heart surgery.
I thought having four heart surgeries and one brain surgery was a lot, but I’ve also read the stories of men and women who have had six and even 10+ heart procedures. Joint pain and dislocations (such as knees and shoulders) also make it difficult for many Marfan patients to be as active as they desire. I know that with my sons with Marfan Syndrome, their activity is often limited. The reality of the severity of this condition is often not known and it’s manifested differently in each case.
The more informed we are, the more we will understand how one’s life is affected by Marfan Syndrome. Regular care and monitoring is vital to the longevity of Marfan patients.
I am connected to a couple Marfan FB groups and have learned so much from the life stories of those within the group. I trust that I have been able to encourage folks as well by relaying parts of my story and how our family works to deal with Marfan Syndrome. I occasionally link my website, www.customscars.org, to their comments in order for others to read a little of how our family functions and survives if they like.
One of the moderators on the Marfan Syndrome FB page is Maya Brown-Zimmerman. She is the most proactive Marfan patient and advocate I know. This month she has daily posted Marfacts (facts about Marfan Syndrome if you were confused) that give us all a deeper understanding of Marfan Syndrome. She has given me permission to use her Marfacts in today’s blog. You can also learn more about her family at www.marfmom.com.
I have included the first 15 Marfacts and will blog about the final 14 come the first of March. Please take time to read these facts to be better informed about Marfan Syndrome.
Marfact #1: Marfan syndrome is a potentially life-threatening disorder of the connective tissue. Connective tissue is like the glue that holds your body together, which means that Marfan can affect many different parts of the body.
MarFact #2: Marfan syndrome is found equally among all ethnicities and genders. It affects about 1 in every 5,000 people, but it's estimated that only HALF know they have it!
MarFact #3: With proper diagnosis and treatment, the average life expectancy for people with Marfan syndrome is the early 70s (aka the same as the general population). Without proper diagnosis and treatment, the life expectancy drops considerably. This is why awareness is so important!
MarFact #4: Marfan is a syndrome (a collection of symptoms that tie together), which means that people can be affected in a variety of ways. There is only one "type" of Marfan, but the disorder ranges from severe (all possible manifestations showing in a newborn) to very mild (people who are not diagnosed until late in adulthood and have few symptoms).
Marfact #5: Let’s talk how Marfan affects the body. First up, the skeletal system. People with Marfan may be tall (in relation to their unaffected family members) and thin, with long arms, legs, fingers, toes, and faces. They may have flat feet, chests that curve inward (pectus excavatum) or outward (pectus carinatum), scoliosis, or kyphosis. It’s also important to point out that you don’t *have* to be tall or thin to have Marfan.
MarFact #6: Pulmonary system time! Many people don't realize that in addition to the cardiac issues (we'll get there tomorrow), lung problems can ALSO be life-threatening for Marfan patients. Possible pulmonary issues include restrictive lung disease, asthma, emphysema (without ever smoking), COPD, pneumothorax, and sleep apnea. You can even see these in very young babies. Obstructive sleep apnea is particularly common in Marfan patients.
Marfact #7: Marfan syndrome causes aortic enlargement, and this is the most dangerous aspect of Marfan because it does not have symptoms. The aorta is the main blood vessel coming from your heart. When it enlarges (called an aneurysm), it puts you at risk for aortic dissection (the aorta tearing). That can be deadly (and dissection DOES have symptoms, but by then you’re in an emergency situation). Again, there aren’t symptoms of aortic enlargement, so it’s vital that a person who suspects Marfan syndrome have one of the following tests to assess their heart and aorta: an echocardiogram, a CT scan, an MRI, or a TEE. X-rays and EKGs will NOT diagnose an aortic aneurysm! Leaky/floppy valves, particularly the mitral valve, are another cardiovascular complication of Marfan syndrome.
MarFact #8: Marfan syndrome can also affect the ocular system. Most commonly a person could have severe nearsightedness, lens dislocation or retinal detachment. 60% of people with Marfan have lens dislocation and although it most commonly occurs in young children, it can happen at any age. However, early glaucoma, early cataracts, strabismus, amblyopia ("lazy eye"), and astigmatism are also associated with the syndrome. #MarfanSyndromeAwareness
MarFact #9: And now, a hodgepodge of the other body systems! Marfan syndrome affects the skin. Stretch marks without significant weight gain is a symptom and they tend to appear in unusual places, like the shoulder blades. Marfan affects the nervous system, in that about 60% of people with Marfan can develop dural ectasia, a widening of the sac that protects the spinal cord. Many with it may be asymptomatic but dural ectasia can cause debilitating headaches when there is a tear in the sac (leading to a cerebral spinal fluid leak). Other issues associated with dural ectasia can include pain, numbness, and incontinence. Finally, research is ongoing to determine the effects of Marfan on the GI system. #MarfanAwareness
Marfact #10: What do we hope to accomplish sharing these facts each February? Well, my hope is that by sharing, if you recognize the symptoms of Marfan syndrome in yourself or a loved one, you’ll take the steps towards getting evaluated. I was lucky enough that due to my Mom sensing that *something* was wrong, she insisted that the pediatrician figure out and he then recognized the signs.
Marfact #11: Marfan syndrome was first described by a French pediatrician, Antoine Bernard-Jean Marfan, in 1896. He had a 5 year old patient, Gabrielle, who had long limbs, poor muscle tone, and a curved spine. Bonus fact: it’s now believed that Gabrielle might actually not have had Marfan as we define it today, but instead a related disorder called congenital contractural arachnodactyly (also known as Beals syndrome). #MarfanAwareness
Marfact #12: Did you know many people with Marfan syndrome have dental issues? These can include a high arch palate, narrow upper jaw, and TMJ. It's recommended that kids with Marfan see an orthodontist around 7 years of age. Patients with mitral valve prolapse or an artificial heart valve should take antibiotics prior to dental work to guard against endocarditis. #MarfanAwareness
MarFact #13: Marfan syndrome is an autosomal dominant disorder. This means that it's a chromosomal change on a non-sex chromosome, and that if you have a known change to the gene, you have Marfan syndrome (for the sake of keeping it simple we're not going into benign changes and related disorders). However, because it's a syndrome, expression can vary widely, even within a family. When one parent is affected, each child they have has a 50% chance of inheriting Marfan syndrome. When both parents are affected, there is a 75% chance that a child will have Marfan (50% chance that the child inherits 1 change to the gene, 25% chance that they inherit both parents' changes). Chance doesn't remember, so it's not that half (or 75%) of your children will have Marfan, but that each individual has that % chance. #MarfanAwareness
Marfact #14: Family medical history is an important consideration when seeking a Marfan syndrome diagnosis. Even if Marfan has not previously been diagnosed in your family, look for parents or grandparents who died from a heart attack or an unexplained cardiac death before age 50. Come prepared to your geneticist appointment with other medical information too. Issues like cleft palate or clubbed feet in the family could point to a related disorder. It doesn't hurt to bring photographs of family members who won't be at the appointment, either. #MarfanAwareness
Marfact #15: Exercise, done properly, is important for people with Marfan syndrome. Exercise should be done in moderation (not to the point of exhaustion) and it's recommended that affected people stay away from contact sports and isometric activities. You can find more information at www.marfan.org/resource/fact-sheet/physical-activities-guidelines