Don't ask, don't tell: Living with Sturge-Weber Syndrome

Presented to the Club by Erik Bruun

“It is as easy to see yourself as it is to look backwards without turning around”
—Henry David Thoreau

I. The Wonders of Thalidomide

On July 16, 1998, the U.S. Food and Drug Administration approved the drug Thalidomide as a treatment for Hansen’s disease, a form of leprosy. The decision prompted an immediate reaction from the Thalidomide Victims Association of Canada.

“Thalidomiders (as we call ourselves) feel compelled to remind the world of the tragedy of the late fifties and early sixties when 10,000-12,000 babies were born needlessly disabled as a result of negligence and greed,” the association wrote in its statement the next day. “We remind the world that no one will ever have a full accounting of those children who were never born or died in the first three days of life…. We of the Thalidomide Victims Association of Canada will never accept a world with Thalidomide in it.”

Thalidomide was first synthesized in 1953 in West Germany. Four years later on October 1, 1957, the German pharmaceutical company Chemie Grunenthal began marketing the drug as a sedative for pregnant mothers, mainly in Germany and Britain. Thalidomide became available in at least 46 other countries in Europe, Asia, Africa and the Americas. Thalidomide was hailed as a “wonder drug” that provided a safe, sound sleep for pregnant mothers. It was effective in fighting many of the symptoms of morning sickness.

Unknown to the doctors who prescribed the medicine and the mothers who swallowed the pills, Thalidomide molecules could cross the placental wall and affect the fetus with catastrophic consequences. It took more than four years to link Thalidomide with the spate of malformed babies that were being born across the world. Quite specifically, if the mother took Thalidomide between the 35th and 50th day of pregnancy, her baby was subject to an extremely high risk of deformities. Between Days 35 and 37, the baby was likely to lose his or her ears and be deaf; between Days 39 to 41, the baby was likely to be born without arms; between Days 43 and 48, there was a high risk of malformed fingers and joints. Thalidomide caused a wide range of severe defects to ears, arms, legs and internal formations. Doctors have identified more than 15,000 babies that were severely harmed by Thalidomide, at least 3,000 of whom died in the womb. Of the 12,000 known to be born with defects, more than 4,000 died within a year. There are about 5,000 survivors alive today, according to the Thalidomide Victims Association of Canada.

The first doctor to make the connection between Thalidomide and the gruesome birth defects was an Australian gynecologist named Dr. McBride who believed the drug caused defects to three children he had seen at the Crown Street Hospital in Sydney in the middle of 1961. In November 1961 German and British physicians began to publicly blame Thalidomide for the outbreak of limb and ear malformations among newborns. Chemie Gruenenthal (which 10 years later settled a class action lawsuit with a 100 million Mark settlement paid to 2,866 German victims) fought the accusations. But on December 2, 1961, Thalidomide was withdrawn from the markets in West Germany and Great Britain. Inexplicably, the drug remained available in Canada and many other countries for several more months.

Chemie Gruenenthal had tried to market Thalidomide in the United States in 1960. The Food and Drug Administration assigned the request to the agency’s newest reviewer, Frances Oldham Kelsey, who had previously done animal toxicity research on the effects of medication in pregnancy. Kelsey refused to clear Thalidomide for sale until she obtained better documentation explaining the neurological effects of the drug on fetuses. The company had only done scant research on the effects of the drug on pregnancy and, it turned out later, had faked some of the results. The U.S. marketer William S. Merrell Company placed pressure on the FDA to clear Thalidomide for sale, but Kelsey would not budge until more data had been collected, preventing thousands of deformities and deaths. In August 1962, President John F. Kennedy presented Kelsey with the President’s Award for Distinguished Federal Civilian Service, the highest civilian award in the United States.

II. Sturge-Weber Syndrome

By the time Kelsey received her award, my father—an intern intent on becoming a neurologist—had identified the red blemish that stains about 2/3 of my face as a symptom of a neurological disorder called Sturge-Weber Syndrome. Doctors call them angiomas, but they are more commonly called port-wine stains. Why they chose port wine, as opposed to say Pinot Noir, I don’t know. But this port-wine stain, or facial angioma, has marked my face from the day I was born until this moment. It is one of several symptoms that I carry. Others include a slight reading disorder, congenital glaucoma in my right eye, attention deficit disorder, some malformations called blebs along the lining of my lungs that led to my being treated for collapsed lungs three times, and an undetermined number of hemangiomas along the edges of my brain.

I understand hemangiomas to be like cans of worms in my brain, tight malformed collections of blood vessels that pose a risk to seizures of my brain if they break open. So far, I have not had any seizures. About half of Sturge-Weber victims have seizures, usually starting as small children. The other symptoms that I have not been fated with are mental retardation and epilepsy.

Sturge-Weber is a rare disease affecting approximately 1 in 50,000 people. The syndrome is named after two British physicians, a neurologist named William Sturge and Dr. Frederick Weber. Sturge first made the link between the facial markings and vascular malformations in the brain in a presentation to the Medical Society of London in 1879. Weber was a prodigious researcher and chronicler of unusual maladies whose name has been linked to at least four diseases. Weber’s connection to me originates from a 1922 radiological study on the atrophy of the brain associated with the disease.

None of the medical literature that I read (or more accurately, tried to read, as much of it is impenetrable to a non-physician) links Sturge-Weber to Thalidomide. However, my grandfather, a Danish doctor, gave my mother Thalidomide to help ease her through her pregnancy with me. As my parents lived in Denmark at the time, it was a simple matter to get the drug.

According to my father, a study in Sweden was done in the 1960s on the effects of Thalidomide on monkeys. Some of the newborn monkeys in the study had Sturge-Weber. The study was written in Swedish and has not been translated into English. Sturge-Weber manifests itself as a neurological disorder to the fetus in ways that sound all too familiar to the way Thalidomide affected babies when we were embryos. Doctors do not know what causes Sturge-Weber and there is no cure for the disease, although there are ways to control each of the symptoms.

III. The Stronger the Wind, the Tougher the Tree

Two months ago I knew virtually none of the information I just read to you. I knew I had Sturge-Weber and I was aware of my own symptoms, minus the hemangiomas. I refused to believe that my collapsed lungs were linked to the disease, preferring to identify the problem with the more appealing category of young, tall, thin, fair-haired men of Scandanavian backgrounds. I did not know any of the history or who or what Sturge or Weber was. My knowledge of Thalidomide was scant, though I knew that my father attributed my condition to the drug, and I had a college classmate with the tiny fins that are really the malformed arms of a Thalidomider. I didn’t even know how to spell Sturge-Weber or Thalidomide. It took me three tries to successfully Google Sturge-Weber. I was, in short, ignorant of the syndrome that marks who I am and colors virtually every initial perception of me. Before telling you about the experience of having this disease, I want to first describe what it has been like to discover the depth of my own blindness, or denial, about myself.

I first thought about choosing this as the topic of my paper about a year ago when a friend of mine had done some research on Thalidomide for a college paper. She was one of the few people who I had told about the possible connection between Thalidomide and my red skin. She reported some of the history of the drug and its physiological impacts. Nobody had ever done this with me before, taken an interest in the forbidden topic of my skin and then openly spoken to me about it. As silly as it may sound, her non-judgmental inquiry released me from my self-imposed prohibition in learning more about the condition. This was a place I would not trod, I think because of some unspoken agreement with my parents who I believe (and with good reason) did not want me to be curious, believing that it somehow protected me and/or fearing that they might be implicated by my knowledge.

Having figured out how to spell Thalidomide and Sturge-Weber, my head spun as I came on to web pages with photographs of babies without arms, angry statements denouncing the pharmaceutical industry, and then finally, the home page of The Sturge Weber Foundation, topped with a row of portraits of people with the same facial angiomas that I carry. The foundation is more than 20 years old, has two on-line support groups, invests in medical research of the disease, provides referrals for doctors, and published two books on the disease, both of which I bought. Its motto is “The stronger the wind, the tougher the trees,” a sentiment I instantly understood for the psychological impact of having a condition that is simultaneously a source of shame and pride, one that marks me as different and seemingly alone, and looking vulnerable, but also feeling very tough underneath.

Doing this research has been like being placed in a milkshake mixer, tossed upside down a couple of times, and then dumped, my head spinning, my legs wobbling, and me uncertain about the ground I am standing on. I have spent a lifetime being rigidly determined to not feel sorry for myself, a feeling affirmed by the stories of babies with seizures and armless adults who have suffered terribly. At the same time, as I think about my own experiences and read account after account of other people with similar experiences, waves of regret, sadness and confusion overtake me. Imagine reading about a man who had Sturge-Weber all his life without any seizures and then at 38 is killed by a massive seizure, or learning that 70% of people with port-wine stains believe it has affected our employability, a thought that never even crossed my mind before, but now makes me wonder. As I have read about the sadness, confusion and anger of parents and their struggles with the disease, I wonder about how my parents (divorced when I was 7) reacted to me, especially the complication of my father’s father giving my mother the pills that were tagged as the cause of the problem. Plus, the complicating fact that my father became a neurologist who could explain everything there was to know about the disease but was powerless to do anything about it.

IV. My Year as a Pirate

The first symptom that I recall being consciously aware of was the loss of sight in my right eye caused by glaucoma. When I was 6 years old my parents moved to New York City and took me to a wonderful eye doctor named Doctor Trokel who treated the eye, which had become a “lazy eye.” If as an infant one of your eyes has poor vision, the brain will program itself to rely more heavily on the good eye, and will increasingly ignore the bad eye. This creates a self-reinforcing pattern that makes the bad eye even worse, or lazy. The way to correct a lazy eye, or at least my lazy eye, was to place a patch on my good eye to force the brain to start paying attention again to the bad eye, helping to restore its vision with the aid of glasses as thick as the bottom of a Coke bottle. So long as this is done before you are 7 years old, you can partially correct the deteriorated sight, which is what happened to me. Simple enough. I remember the first morning I went to school with these new glasses and a patch, though, standing in the doorway crying and crying, refusing to enter the classroom because the other children would see me in this condition. Never mind that they had all just walked by me without comment. Finally, my teacher came up with the clever idea of drawing a picture of a pirate on the patch. I have this image of myself, six years old, sitting among my classmates quite satisfied by this solution. For the next year, my teacher dutifully drew pirates, cowboys, and other images that would resonate for a 6-year-old boy forced to wear a patch.

Although my vision had been partially corrected, the root of the problem was glaucoma, which is not curable. It causes pressure in the back of the eye that eventually erodes the optic nerve and can lead to blindness. When I was about 15 years old a different doctor prescribed a new eye drop that had been invented called Timoptic to control the pressure. Although he was a knowledgeable doctor, he was a horrid man. I refuse to remember his name. One time, he had a resident under his stewardship come in to try to diagnose my condition. It was one of the most shaming moments of my life. They talked about my eye and the redness of my skin as if I was a blob of cells under a microscope without feelings or thoughts. “Severe acne?” the resident said when the doctor asked him what he thought was the problem with my skin. The combination of denial, my distaste for the doctor who prescribed the eye drops, and my well-founded suspicion of the pharmaceutical industry led me to be very lax about the application of the eye drops. The result, 30 years later, is that my eyesight is now deteriorating pretty rapidly, although I have in the last year or two become much better at using the eye drops, but it is a case of too little, too late.

V. Erik the Red

The second great favor that my first-grade teacher did was to give a lesson about Erik the Red, the marauding Danish Viking who conquered Iceland and discovered Greenland. I am from Denmark, my name is Erik, and my face is red. Woohoo, what a man! For a while, I had the nickname Erik the Red. This was a source of strength. Even as I write this I wonder if my teacher purposefully added him to the curriculum as a way to help me be accepted among my classmates. I went to a grade school—Manhattan Country School—that was founded in the 1960s with the mission of racial justice. My classmates were children of all colors, so I was just another part of the rainbow.

The redness of my skin is far and away my most visible symptom. In addition to my face, it covers most of my right arm, the right side of my chest and the lower part of my right leg. Realistically, I do not think it is that bad or unattractive. I think that it is one of the first things that people notice when they meet me. It is a matter of some curiosity, and then over time, it fades away, both as something that is seen in me or consciously thought about. Children between 5 and 8 years old are the only ones who reliably say out loud the question “What happened to your face?” Others think it, but they don’t ask. Was I in a fire? Do I have a tremendously bad sunburn? Is it a birthmark gone wild? Severe acne? I participate in this agreement to not say anything and the unspoken topic becomes an invisible barrier that silently helps isolate me from intimate friendships and relationships.

I can only recall one real conversation about it until a few years ago and that was with my father, by then a neurologist of many years. We were in his office and he was wearing his white doctor’s jacket. I had just done incredibly badly in a standardized 9th-grade English test, ranking me in the bottom 10 percent of the world in my writing skills, a notch above the mentally retarded. That was when I learned about Thalidomide and the connection between my skin, eye, and learning disorder. Aside from that conversation, nobody talked to me about the color of my skin. When I finally built up the nerve to ask my mother three years ago her feelings about it, her response was “What red skin?” And this was the way I lived, obliviously. Except, of course, whenever I looked in the mirror or, even worse, saw myself in photographs, vivid reminders of the unspoken reality.

The silence proved fertile ground for fantasies about how people “really” responded to me when I turned my back—with sneers and mockery? This response only happened in reality once, as far as I know. I was driving back from JFK Airport very late at night returning from Mexico City wearing a suit and tie. I stopped to get gas on Route 22. When I went inside to get a bottle of water, I walked past a small group of teenagers clustered around a car. All four stared at me and then as I entered the store, one of the young guys said “That dude’s seriously fucked up!” I spun around as the pretty blonde girls laughed. I stared at them in vicious silence and then went inside to get my water, furious, embarrassed, and proud.

VI. All That Other Stuff

Like my eye and skin, I have tried to blithely ignore my personal cluster of other symptoms at a certain level, but at another level I tackle them head on. A learning disorder? I went to the tutors and willed myself to prove the tests wrong. I became a professional writer. Some people don’t believe that I have a learning disability, but it is true. I also have an attention deficit disorder that I have overcompensated for with a work ethic that has at times bordered on the ridiculous. My faulty lungs? When people gasp at the term a “collapsed lung” I respond that it is no big deal, quoting a doctor-friend-of-the-family who described it as a giant hiccup, which is true, but it also requires a chest tube being jabbed through my ribs while I am awake and 6 to 10 days in the hospital. Does it affect my ability to run long distances? No way!

The medical literature talks about the secondary psychological effects, especially from the port-wine stains. It says that we tend to have low self-esteem. One article writes about the impact on parents. “Stages of deep-seated anger often complicate reactions to Sturge-Weber syndrome,” Patricia Gibson wrote in the textbook Sturge-Weber Syndrome. “Why me? Why my child? Why not someone else? Anger may be expressed toward God, parents, spouses, or health personnel…. This anger is misdirected, often to hide deeper feelings of fear, vulnerability, and loss of control.

“There may be another stage, one of mourning for the perfect child who is not to be, often accompanied by depression, sadness, and a sense of loss. The loss of the dreamed-of child is more than a sudden change or disappointment: it is the loss of something in which the parents have a significant emotional investment. This outcome was not expected. Unfortunately, the emotional effects of this loss of dreams are seldom addressed.” I would love to think that none of these things are true of me, but to say so would be misleading and to believe it, delusional.

The final symptom that I have just learned about is the hemoangiomas that line my brain. I almost wrote that this (finally!) was not a case of my own denial, but that wouldn’t be true as at any moment for my entire adult life I could have looked up the disease and learned about it. My father has known about them for a very long time, but did not tell me about them. When I asked him he said that they do not pose a health risk as I did not have any seizures as a child. At first I believed him, but now I don’t. My evidence is that just yesterday (10 days ago) I read an email from a man describing how his brother, Ronald de Souza, had Sturge-Weber and didn’t have his first seizure until he was 38. He then had three small seizures and a fourth one that killed him. This anecdote helps explain why it was impossible for me to get health insurance as an individual when I was working as a freelance writer. That story also cemented my decision to see a neurologist who is not my father.

VII. Don’t Ask, Don’t Tell

I am different from other people, but so are we all. I am not the only person in this room who has faced the prospects of his own mortality. Some of you have confronted this in ways much more present and daunting than my recent experience. We all have ticking time bombs inside of us. Picnic lighting has touched each of our lives in some way, I am certain. We each have topics that we avoid talking about and looking at because of the feelings of shame, guilt, anger or sadness that they trigger.

The distinction for me is that my difference is inescapably visible. Unlike others, I can point to the stain that colors my soul. Many of us fear that there is something wrong within us. Where it comes from I don’t know, but it is a haunting fear—as if we cannot trust ourselves to follow the luster of our own light. We create defenses around our insecurities, built upon our quests for knowing, doing things to make people like us, acting tough, and other tactics to reassure ourselves of our own soundness. I think this may also feed the desire to be alone or to run away to a new place where we can be who we imagine ourselves to be without fear of condemnation or judgment.

This, I am learning, is a humungous mistake. We build the defenses to keep the pain out, but we simultaneously erect the walls that hold ourselves in. There is no question in my mind that the “embarrassment” of my skin created a silent “Don’t-ask-Don’t-tell” agreement between me and most of the world. This is not to say that denial can’t serve a constructive purpose. We build the walls for the very valid reason of protecting ourselves from something very painful. I am an accomplished person filled with knowledge and success that have served me well. But there is a cost that I think we become blind to—at least I have learned that I have been blind to it. The price we pay is letting a fence of our own construction get in the way of pursuing our lives to the fullest or sharing them fully with others.

I am a non-practicing Jew, so I am not an expert on this, but I think this was the message of Christ when he said that the Kingdom of God lies within each of us and that we should each follow the paths to live a life of possibility. He lived his life as an example of this creed, advising his followers to cast off the shackles of inhibition and conformity to be like the lilies in the fields.

Robert Kennedy quoted the Greek philosopher Aeschylus when Martin Luther King, Jr., died. "In our sleep, pain which cannot forget falls drop by drop upon the heart until, in our own despair, against our will, comes wisdom through the awful grace of God." The pain can be awful, as is the despair. But if we want to live full lives blessed with wisdom and knowledge, then we have to allow it in. Fighting it does not work. You cut yourself off from yourself and become inauthentic, a fraud to yourself and those around you.

I am very conscious as I finish this paper of how personal and potentially uncomfortable the topic is. I recently read a quotation from a very popular blogger who said that so long as you are honest you will always be interesting. Honesty, especially honesty to yourself, is a really difficult thing to achieve, but that is what I have tried to be here. I know it has been interesting, if at times difficult, for me, and I hope it has been interesting to you. I look forward to your responses.