Marfan Story by Joe Smart joe.smart737@gmail.

com Although my wife, Carol, had not been able to return to her native Philippines since her arrival in the US in the 1970s, she did enjoy a close relationship with two of her sisters-in-law, communicating by phone, e-mail, and, occasionally, snail-mail. One of these ladies had an only child, a daughter named Precy. Precy was the first of her generation Carol and I befriended and supported in her endeavor to attain an education. Her engaging personality, good attitude, and desire to progress, coupled with her quick acquisition of English, soon endeared her to us. We learned how special she was the Christmas she was 15. My wife and I decided that, instead of giving each other presents, we would give money to my wife’s relatives in the Philippines. But by the time we allocated amounts to her brothers and sister and their older children, there was little left for the younger nieces and nephews. Precy’s share turned out to be only five dollars. We found out later that she gave her money away to another cousin who needed it more, and she did without. We heard another story from her first year in college, as a girl from the provinces alone in the big city. Her landlady had a maid, and Precy often shared her food with her. The other students asked, “Why are you being nice to her? She is only a maid!” Precy replied, “My mom was a maid. When I was born, her boss told her that we would be allowed to live in the goat house. She often told my mom to clean the table after dinner, but wouldn’t let her touch the leftover food. There was ‘special’ food for maids! Now, my mom has a small store. And that former boss comes to my mom and asks for loans. I think I’ll be nice to the maid!” After Precy’s first year in college, we sent her closest cousin, Irish Jane, to stay with her and attend the near-by high school. Once we sent an email exhorting them to study hard and do well. I’ll never forget her stunning reply: “As for me and Irish Jane, since we were young we have worked in the heat of the sun. We know the value of this opportunity to get an education. We will not disappoint you!” Precy was diagnosed as having Marfan’s Syndrome when she was 17 years old. During her first year in nursing school, she emailed us and said she couldn’t see well enough to read some of her textbooks, and had to ask her friends to help her study.

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We encouraged her to see an eye doctor, and he told her she had dislocated lenses. “Dislocated lenses?” I asked. I had heard of dislocated shoulders, but dislocated lenses? In half a second, Google gave me over 200,000 results for dislocated lenses, and most all referred to Marfan’s Syndrome, a connective tissue disorder whose sufferers usually have dislocated lenses, longer-than-average arms and legs, long, tapering fingers, abnormal heart valves, and the probability of developing an enlarged aorta resulting in aortic dissection, often fatal. We had always realized Precy was much taller than her classmates and had relatively long arms and legs, but it was not till Precy’s eye problem was diagnosed that we realized she had Marfan’s. Within a week of hearing the diagnosis of dislocated lenses, we had become fairly knowledgeable about this condition. Most of our information came from the wonderful, compassionate people of the National Marfan Foundation (NMF) whose website and phone number we found through Google. Precy, learning of all the ramifications of this condition, had quite a bit of growing up to do in a short time, and we were worried that this, loaded on top of her being a scholarship student from the provinces alone in the big city, might be overwhelming. But we were reassured when she sent us an e-mail saying, “About this Marfan Syndrome… my mom always says, ‘When you fall off a cliff, one of two things is going to happen. Either God is going to catch you, or He’s going to teach you to fly!’” Although Precy is not defined by Marfan’s, it does affect every aspect of her life. The grace and courage she has exhibited while dealing with it has certainly inspired me. I have never met someone so young with so great a sense of purpose in life and with so much confidence that all is according to God’s plan and that He will guide her and use her throughout her life. Precy continued her studies for another term, then had to take the next term off because she just couldn’t see to read. So, when we finally were able to go to the Philippines in January, 2007, our first order of business was to get eye surgery for our niece so she could resume her studies. She had two eye surgeries, one on each eye, about three weeks apart. They were successful, but painful. And they were timely – Dr Miguel DeLeon, one of the most compassionate and skillful physicians I have ever met, found incipient retinal tears in both eyes. A delay of only a few months might well have resulted in detached retinas and the loss of sight in both eyes. I wrote the following story a few weeks after her surgery. It recounts one event during her recovery.

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MIDNIGHT He quietly opened the door to her crowded room. In spite of the fan, the heat of the tropics was almost overwhelming. Clumsy from lack of sleep, he maneuvered around the bodies of her visiting mother, aunts and cousins splayed across the floor till he reached her bed. Gently holding her hand and stroking her arm, he whispered, “It’s time.” She whimpered, not fully awakening, but knowing what was to come and reluctantly accepting both the necessity and inevitability of it. She gripped his wrist as he moved his left hand to her face and, using his thumb and middle finger, opened her recovering eye. With his right hand, he positioned the small bottle containing the medicine prescribed to control swelling over her eye and allowed one drop to fall into the pocket between the eye and the lower eyelid. She cried out, squeezing his wrist hard, and he prayed the same prayer every parent prays when they see their child in pain: “Oh God – I wish it were me and not you!” She held his wrist with both hands now, still not awake but knowing it was not yet over. She had quickly found out that the pain of the medication was worse than the pain of the operation. Every three hours, day and night. He had the second bottle of medicine ready now. The antibiotic. The one that really hurt. One drop. The cry, almost a scream this time, and her whole body spasmed. Then, knowing it was over, she held his hand to her tear-stained face and rolled to her side, trapping his arm. Holding him tightly, she slipped back to sleep. He held the uncomfortable position for a minute or two, and then gently pulled his hand away and went back to his room, leaving her for another three hours. The year after Precy’s eye surgery, we found that we could get her open-heart surgery in Manila. We discovered this surgery was available in the Philippines because the newspapers carried the story of the treatment for aortic dissection on the husband of the nation’s President. Precy’s surgery was successful, but there were complications during the recovery. During the treatment for the complications, her spleen was punctured and she almost died from internal bleeding. I would like to write the story of that night, but it is still too close to the surface…I’ll try to write it in another year or so.

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The following is the story of Precy’s interview with the surgeon – the same surgeon who had operated on the President’s husband. I wrote it just before the surgery and shared it with some members of the National Marfan Foundation in the hopes it might help others going through the same decision-making process, and the encouragement we received helped us through the next few weeks. RISKS March 26, 2008 Saint Luke’s Hospital, Manila The surgeon explains the procedure and draws sketches of the heart and aorta, detailing the enlarged left ventricle and the damaged mitral and aortic valves and aortic root. He explains where the mechanical valves will go, and he draws a line across the aorta where he will cut off the root, dangerously expanded but not yet dissected. He shows where he will reattach the arteries supplying blood to the heart muscle. He answers the same questions he has answered many times before, and he answers questions we have not yet thought of, but which he knows will come to us tonight, when the lights are out, when the shock of hearing of the necessity of the surgery has worn off and the fear grips us. And he explains the risks. “Five to eight percent of difficulty during surgery, five to seven percent during recovery.” “And the alternative?” I ask. “In a few months, or a year, or maybe two,” he explains patiently, “the heart will be so damaged that a transplant will be the only option.” I try to remember my Probability Theory. Ninety-two percent times ninety-three percent. A few scratches of my pen provide the answer: eighty-five percent. “Eightyfive percent chance of no problems,” I think. “And some of the problems in the other fifteen percent gotta be fixable, right?” I ask the cardiologist: “If this were your daughter?” She is not surprised at my question, and I am not surprised at her answer.

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To the surgeon, the same question. The same reply. I look to my niece. The kindest, most thoughtful girl I have ever known. She is crying, but doesn’t realize it. Trying to be brave, trying to be strong, making the most significant decision of her life. At twenty years of age. I look to my wife. Tough. Decisive. Pragmatic. Not known to be shy or mince words. “You have to do this to live!” she says. “We’re with you!” The girl needed to hear this, needed this analysis, needed this support. She nods and says, almost in a whisper, but strong and clear and determined, “Let’s do this!” It’s now been eighteen months since her surgery, and Precy is doing ok. She has to take a blood-thinner medication and avoid vitamin K, which thickens the blood. But she’s carrying a full load at school, looking forward to her future, looking forward to God’s plan for her life. I am not a physician, but I have read a lot about Marfan’s Syndrome over the last few years. I know that different sufferers have different outward signs, have different symptoms, and those symptoms can be of different degrees of severity. I know that not many physicians are conversant with all the aspects of Marfan’s. Most cardiologists are familiar with the heart malfunctions but remember only vaguely that eye problems are common. Ophthalmologists cannot always discuss the heart aspects. And when I queried one family doctor about the syndrome, he replied, “Marfan’s? We hear about that one afternoon in medical school but we never see it. Nobody gets Marfan’s!” So, I am writing this for several reasons. One is to honor my niece and document her brave fight. Another is to let people know that sophisticated heart surgery is available in the Philippines. But, most importantly, it is to let people know about the National Marfan Foundation. If you have several of the common signs (you have an arm-span greater than your height; you have long, tapering fingers; you are tall and thin, perhaps “gangly;” you have eye problems; you have a concave or convex sternum or chest; or you have a heart murmur indicating regurgitation from the mitral valve of your heart), visit the NMF website and talk to their experts. A more complete list of the “features” of Marfan’s is at: http://www.marfan.org/marfan/2320/Features/. Marfan Syndrome is a serious disorder, but you have the best chance of living a normal life with normal life expectancy by getting proper diagnosis and treatment. Please visit the website of the National Marfan Foundation, http://www.marfan.org.
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