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Heroes Among Us: The Incredible Connie Lee (and Julia, too) by Page E. Bishop Published: August 2006 “I’m six and eleven-twelfths,” announces Julia Lee, her bright dress a blur of flowers as she swirls and twirls around the living room, her feet barely touching the ground. “Do you know why I’m here?” I ask, tentatively, unsure what her answer will be. “You’re here to ask questions,” she says matter-of-factly, writing something on my yellow notepad. That’s right, Julia. I’m here to ask questions. I start off easy. Favorite colors? Pink and purple. Subjects? Math and art. “What can you tell me about Angioma Alliance?” No answer. “Why did your mommy start Angioma Alliance? Silence. Julia looks off into space, as if searching for the answer I know is already there. “Because…I have…cavernous angiomas?” she says, incredulously, as if realizing this for the first time. “That’s right, Julia!” says her mother. Looking down, I see that Julia has scribbled the words “I love Mommy” on my notepad. After all, to Julia, Mommy is no ordinary woman. Mommy is a superhero. At first glance, Mommy (known to others as Connie Lee) seems a soft-spoken stay-at-home mom. But in reality, this former psychologist is inspiring great change in the field of neuroscience. From an office in her Williamsburg home, Connie holds a universe of information at her fingertips, uniting patients, families, physicians and scientists who all share a common goal: to learn more about cavernous angiomas (CAs), also known as cerebral cavernous malformations (CCMs). CAs are raspberry-like clusters of abnormal blood vessels that can develop in the brain or other parts of the body. It Began with a Startling Diagnosis... When Julia was just four months old, Connie and her husband, John, a local psychiatrist, noticed their daughter was irritable and cried often. They knew something was wrong when John, bouncing Julia on his knee to soothe her, felt her go limp. Julia’s pediatrician, unsure at first about how to put these vague symptoms together, sent the family home with amoxicillin and a plan for a follow-up appointment the next week. The next morning, Julia was projectile vomiting. She was slipping in and out of consciousness. Julia’s pediatrician urged Connie and John to rush their infant daughter to Norfolk’s Children’s Hospital of the King’s Daughters, where an emergency CT scan revealed a bleeding mass of blood vessels the size of a small orange inside her brain. Surgeons removed the cavernous angioma, but Julia was left partially paralyzed on her right side. Months of rehabilitation followed. Then, during an annual follow-up, MRI results showed a second angioma had hemorrhaged. While this CA was initially asymptomatic, the second hemorrhage could have left Julia without the use of her right hand. John and Connie opted for another surgery rather than risk the possibility of Julia losing function on the right side of her body. A third major hemorrhage occurred the following year when Julia was two. That incident led to a full-blown stroke that affected the left side of her body. Emergency surgery was performed to remove the angioma and stop the bleeding. She recovered from the surgery, but a minor seizure disorder had already taken hold. When a fourth angioma was discovered in the summer of 2003, doctors learned the large mass had already hemorrhaged and that it rested in a perilous location. Once again, Connie and John faced the decision of whether to put Julia through another surgery. If they chose surgery, Julia risked functional deficits because surgeons would have to cut deep into the tissues of Julia’s cerebellum where the angioma was lodged. On the other hand, if the angioma were to bleed again, the effects might be even worse. That year Julia had a fourth surgery, and in some ways she is still recovering. Connie Confronts the Villain If Connie Lee is a hero, then cavernous angiomas are her nemesis. Part of a larger group of conditions called vascular malformations, CAs are lesions that can appear in different areas of the body including (but not limited to) the brain, brainstem and spinal cord. Lesions range in size from microscopic to several inches in diameter. Many factors determine their effects including size, location and the type of bleed that occurs. Brainstem lesions are by far the most dangerous type because a person’s ability to breathe and swallow can be compromised. Lesions found in the spine can cause severe spinal cord injuries. Symptoms may depend on the location of the angioma and can vary from stroke-like symptoms to seizures to chronic headache and weakness. Some people experience neurological deficits including problems with vision, balance, memory and attention. Cognitive and behavioral difficulties are common among children with CAs. The effects of a bleed can be transient or, in some cases, permanent. CAs hemorrhage in three ways: First, they can bleed within their thin walls. This type of bleed can go unnoticed because blood is simply reabsorbed into the body. A second type of bleed also occurs within the lesion’s walls but is more aggressive; a larger bleed causes the lesion to grow, intensifying the pressure on surrounding brain tissue. A third type of bleed is caused by a weakness in the thin wall of the angioma. Blood flows out of the angioma into surrounding tissue. This type of bleed is the most severe. CAs were once considered rare, but recent research shows that they’re actually more common than experts thought. As many as one in 100 to 200 people (0.5 to 1 percent of the U.S. population) are estimated to have one or more lesions, and nearly one-third of those are expected to develop symptoms. Unfortunately, the precise triggers that cause an angioma to bleed are still largely unknown, according to Dr. Leslie Morrison, a pediatric neurologist and assistant professor at the University of New Mexico. Several possible causes (such as high blood pressure, stress or reaction to certain medications) have been theorized, says Morrison, but a lack of large-scale studies has kept solid answers at bay. Researchers do know, however, that CAs are either congenital (present from birth) or capable of developing later in life. Some remain dormant while others become life-threatening. They occur equally in men and women, and no ethnic group is exempt from them. Morrison notes, however, that because of a specific genetic mutation known as CCM1, CAs are more prevalent among the Hispanic population of the American Southwest. CAs can be inherited (familial) or occur in only one person in a family (sporadic). Those with the familial form have inherited a gene associated with the condition, and a child of an affected person has a 50 percent chance of inheriting that gene. Though Julia is the first in her family to have CAs, doctors determined that her case is genetic, the result of a mutated gene. Therefore, her children could have a 50 percent chance of having the illness. Both Connie and John tested negative as genetic carriers of the disease. When Dr. Morrison is asked whether she thinks Connie possesses heroic qualities, she replies, "Absolutely. She’s intelligent and dedicated to this cause, and those qualities are certainly heroic. More importantly, she is the mother of an affected child.” Hearing this, I remember how, in a recent interview, Connie asserted: “I am determined and I am fierce.” Our Hero Takes Charge Voicing her reasons for starting the Angioma Alliance, Connie says: “I think the answer comes down to the honest truth that I just had to do it. I wasn’t working as a psychologist anymore. I was beginning to have a few hours a week to myself as Julia entered pre-school, and I knew that with my background this was something I would be able to do, at least on a small scale. I can’t keep Julia from having bleeds or going through surgeries, but this was one way that I could be proactive and address some of the helplessness that comes along with this illness.” First Connie needed to get information into the hands of those who needed it most – patients and their families. She then aligned herself with a group of world-renowned scientists, neurosurgeons and neurologists to promote research. Through sponsored workshops, scholarship opportunities and physician education, Connie says her goal is to help educate tomorrow’s physicians. Delivering the right information into the hands of primary care physicians is important, Connie alleges, because they’re often not trained in medical school to recognize the symptoms of CA. “It’s hard for every doctor to know the full range of illnesses,” she explains, “but when one in every 150 people has CA, perhaps it’s time for doctors to learn more.” Will Her Efforts Prevail? MRI technology has been instrumental in making cavernous angiomas the most frequently identified vascular malformations of the brain, says Dr. James C. Jacobsen, a physician with the Department of Diagnostic Radiology at the Scott & White Memorial Clinic and Hospital in Texas. Morrison confirms the link between increased CA diagnosis and the advent of the MRI in the 1980s, adding that MRI scans provide evidence that lesions can either grow over time or shrink after bleeding. Dr. Issam Awad is a professor of neurosurgery at the Northwestern University Feinberg School of Medicine. He is a leading expert on cavernous angiomas and chairs the Alliance’s Scientific Advisory Board. Awad believes one of the reasons more and more people are now diagnosed with CAs is that before MRI technology, physicians could only see the periphery of the disease, meaning that they only understood the symptoms, such as stroke and seizure, not the cause. In the future, says Awad, newer treatments involving gene therapy, targeted medications and new uses for radiation may allow for less invasive, non-surgical removal of lesions. “When I first met Connie Lee, I was impressed by her knowledge,” recalls Awad, who has studied CAs for nearly 15 years. “I could tell she had done her research. Through the Alliance, she’s brought together patients, families and physicians. She’s helped patients become more informed and created ways for them to participate in the current research.” Connie maintains that once she saw a need for increased awareness, she doesn’t know how she could have lived with herself if she hadn’t taken action. “It would have been selfish of me,” she imparts. “I knew I couldn’t go back to work as a psychologist because of the constant risk of her having a medical emergency. What else would I have done with my time? Gone shopping? Volunteered for organizations in the community, but [none] as vital to my daughter?” A recent success for the Alliance was the approval of a DNA and tissue bank, or Biobank, which will hold tissue samples from donors who have one or multiple CAs removed. At a recent conference in Santa Fe, New Mexico, 53 participants agreed to provide genetic material, which researchers will then examine in hopes of learning more about this disease. Says Connie, “I want to live in a world where researchers talk to each other and where sufficient resources are available for them to do research.” Our Hero Has a Sidekick Julia also attended the conference. But, unlike Mom, she wasn’t there to hear the latest research about cavernous angiomas; she was there to play with other children who just happen to be affected by CAs. Many of the friends she’s made at the Alliance’s annual conferences have physical disabilities, ranging from loss of limb function to epileptic seizures. Others, like Julia, experience learning or behavioral difficulties that are not outwardly visible (she has attention deficit disorder, or ADD). In Julia’s world, however, there is nothing amiss about having a disability. Maybe Julia is a superhero, too. Her power? The capacity to look beyond another person’s physical or mental impairments. Connie says Julia sees people for who they are, not for their handicaps. “Life [to Julia],” Connie explains, “couldn’t be any other way.” Life for Julia also means sharing Mom with others who need her strength and guidance. Sometimes the phone rings in the Alliance’s headquarters in the next room. It could be a frightened parent whose child was recently diagnosed with a CA. It could be a confused patient seeking advice. It could be a neurosurgeon calling with good news. Connie must quickly change her identity from Mommy to Dr. Lee. “I’ve learned to wear many different hats,” Connie admits. Three years of inactivity have brought a renewed sense of hope for the Lee family, yet two large lesions still rest within Julia’s frontal right lobe and several smaller lesions are scattered in various areas of her brain. No one is quite sure how these lesions will impact her health as she grows older. “It’s not over by any means,” says Connie, explaining how Julia is at increased risk for developing more cavernous angiomas. “She’s too young and she’s had too many surgeries for us to assume there will be no more occurrences. As a parent, sometimes it’s hard to be honest yet reassuring at the same time.” And while Julia recalls “bits and pieces” of past surgeries, Connie says what her daughter remembers changes from day to day. Julia knows that she sees a neurologist. She’s aware that she’s had surgeries. Once she asked to see her MRI results; she wanted to check her films for signs of trouble. Yet today, for example, she seems surprised that she’s had any surgeries, as if she doesn’t know that she’s had multiple CAs. Maybe her apparent forgetfulness is an effect of past bleeds, or, maybe she doesn’t want to remember. Perhaps Julia uses her own special powers to shield herself from scary thoughts and send them spiraling away. Her Greatest Motivation “Want to see how fast I can run?” asks Julia as we walk outside. “Show me how fast you can run,” I reply, as she dashes toward Connie’s outstretched arms. As I watch Julia, Connie’s words resonate through my mind: There’s nothing about what I do that's not personal. Helping others brings a sense of fulfillment to my life, but, in the end, I know anything I do will help Julia. She is my motivation – the greatest one I could have ever imagined. Life will be better for her as a result of my actions. She will grow up in a world where there is support. All of us, whether we’re a force of one or a team of thousands, have the power to change the world. Sometimes all we need is a little motivation.
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Williamsburg Health Journal
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