P1: GYQ Journal of Genetic Counseling [jgc]
ph131-jogc-375462
July 4, 2002
14:7
Style file version June 4th, 2002
C 2002) Journal of Genetic Counseling, Vol. 11, No. 4, August 2002 (°
Genetic Counselor or Patient—Who Am I Today? Kristina Keilman1,2
My daughter has possible Klippel–Trenaunay (K-T) syndrome. After a complicated pregnancy and delivery, the fact that she might have K-T dawned on me rather slowly. Of course, the portwine birthmark on her abdomen and back was apparent at the time of her birth, but my husband and I felt that her birthmark was not a significant problem. In fact, he joked about it being a little piece of insurance that we would always be able to identify her in a crowd of naked babies. Her asymmetry must have been subtle at first, because I did not let myself realize that she had hemihypertrophy until she was about 3 weeks old. No one had noticed it before—not me, her father, the attending pediatrician, or even the geneticist I roped into doing a quick look right after she was born. Then one day when I was bathing her, her foot was in an odd position, and I started thinking about what it would be like if she had a mild clubfoot. It was that kind of anticipatory thinking that genetic counselors often do. Even before we become pregnant, genetic counselors spend time exploring, “What would I do if I had an amnio and my baby was diagnosed with trisomy 21? 45,X? Cystic fibrosis?” A couple of days later I must have been ready to explore again, because this time I looked very closely at her feet, now with the genetic counselor portion of my brain instead of the new mother portion. When I recognized that her legs and feet were different sizes, I was completely unprepared for the weight of sadness and panic that engulfed me. All I could think about was the scary photographs of K-T in Smith’s Recognizable Patterns of Human Malformation (Jones, 1997) or Syndromes of the Head and Neck (Gorlin et al., 1990). I had never counseled a family with a child with K-T, and I feared that her hemihypertrophy would progress to significant disfigurement and that she would have difficulty reaching motor milestones in the future. How was she going to be able to cope with being visibly different from other children? And how were we going to be able to help her? 1 Department
of Genetics, Kaiser Permanente, San Francisco, California.
2 Correspondence should be directed to Kristina Keilman, Department of Genetics, Kaiser Permanente,
2350 Geary Boulevard 3rd floor, San Francisco, California 94115; e-mail: [email protected]. 289 C 2002 National Society of Genetic Counselors, Inc. 1059-7700/02/0800-0289/1 °
P1: GYQ Journal of Genetic Counseling [jgc]
290
ph131-jogc-375462
July 4, 2002
14:7
Style file version June 4th, 2002
Keilman
How was I going to explain my sudden bout of hysterical tears to my husband? And why didn’t 9 years of genetic counseling experience make these concerns easier to address? Our little girl has now passed her first birthday, and at least some of these questions are starting to feel more answerable. Over the past year, the simultaneous experience of being both a patient and a counselor in my own department has taken me on a journey of rediscovering both joys and challenges in our work as genetic counselors. Once I accepted our daughter’s asymmetry, I could no longer tell myself that her portwine birthmark was an isolated birth defect. If she did have K-T or some other overgrowth syndrome, we wanted to know, so it was time for a genetics evaluation. I recalled that K-T was sporadic—you never can tell when that information you crammed into your head for ABGC Board examinations is going to come in handy. But my husband and I both knew that a genetics evaluation was going to help us regardless of the diagnostic outcome. Our first step was to choose a genetic counselor and a geneticist. We recognized that our request for services was in no way going to be a neutral experience for them. First of all, I anticipated that they would feel an added responsibility to do an extensive review of the literature since we were going to seek more information than the typical family. Also, in contrast with most patients, coping with my pain was not going to be a short-lived experience for anyone involved. We were going to see each other every workday, and reminders about the experience were likely to come up unexpectedly and at possibly unwelcome times. In some ways it was almost surreal to be counseled and at the same time observe my coworkers counsel us. Although the 2.5-h session was filled with many tears, there were also moments of laughter. Even somewhat mechanical activities like the physical exam served to lift some of the weight of our fears. By the end of the session, we felt more hopeful, even though we still could not know what our daughter would face in the future as a result of her possible K-T. Our geneticist and genetic counselor provided psychosocial support in a powerful way that was unique in a medical environment. Genetics was the medical discipline that put all of the pieces together to give us a holistic view of K-T. I do not believe that the strength of our response to genetic counseling was due solely to receiving special treatment from peers. In truth, I suspect we probably receive special treatment from every specialist we see since they know that I am a genetic counselor. I have always valued the work that we do as genetics professionals, but since I have been counseled myself I now feel this rather than just know it. Being the parent of a patient has also affected my approach to genetic counseling. The geneticists in my department have told me that I bring a renewed intensity to my preparation for general genetics cases. Since my daughter’s diagnosis, it definitely has been intellectually stimulating to immerse myself in learning everything I can about K-T. I think this intellectual stimulation has revitalized my thirst for knowledge about specific diagnoses for my patients, also. The flip side, however, is that it has sometimes felt intensely jarring to derive pleasure from the acquisition
P1: GYQ Journal of Genetic Counseling [jgc]
ph131-jogc-375462
July 4, 2002
Genetic Counselor or Patient—Who Am I Today?
14:7
Style file version June 4th, 2002
291
of knowledge about K-T when the impact is on this child I love so completely. I feel this same jarring sensation when the realization hits that the fascinating information I just learned about a specific syndrome is going to impact the parents of my patients, who love their children equally deeply. Concerns about countertransference cross my mind more frequently now than before. For example, I recently counseled the family of a newborn who had just been diagnosed with X-linked ichthyosis. Following a positive triple marker screen with very low estriol, his parents chose to have amniocentesis but they declined steroid sulfatase deficiency testing and knowledge of fetal gender during the pregnancy. Prenatally, I was struck by their awareness of their needs regarding timing and pacing of information acquisition, and it helped me recognize how my husband and I had also limited our search for information to bits that we could handle at any given time. Postnatally, their concerns about their son’s self-esteem echoed ours during our daughter’s first few weeks of life. In ways that I had not experienced before, I discovered I could anticipate not only the questions and fears they would express in our next encounter, but sometimes those they would express two or three contacts later. I found myself continually exploring whether these flashes of intuition were insight or projection. For example, at one point in our counseling session when the father was discussing treatment, the mother looked down at her son and began gently crying. It was a noticeable change, because she had been laughing a few moments before and had not yet cried with us. It struck me that she was envisioning her son as a teenager or young man, and she was wondering about his feelings about ichthyosis. Would he try to hide his differentlooking skin, or would he approach the world with confidence? What would it be like for him to tell potential intimate partners? I was flooded with a wave of sorrow as I remembered back to when these concerns crept into my mind during our daughter’s genetics evaluation. I tried to quickly assess the countertransference potential and ultimately decided to take the risk and explore these issues with the family. Luckily for me, the mother’s tears came from the same source as my own. After many consultations with coworkers, I have come to believe that flashes like this one usually reflected insight rather than projection and were helpful in counseling the family overall. Sometimes my reactions to my dual roles as parent and counselor take me by surprise. At a recent clinical meeting, our team considered connexin testing for a pregnant woman with a family history of deafness. After about 10 min of interesting discussion about the chances of detecting a mutation and the challenges of explaining the limitations of testing, one of the quieter counselors in our group asked us to consider the ethical implications of testing for this patient in light of the deaf community’s perceptions of prenatal diagnosis. I am not completely sure why, but in that moment it hit me emotionally for the first time that some of my prenatal patients would choose to terminate an affected pregnancy if K-T were prenatally diagnosable. I ran from the meeting, sobbing all the way to my office. I had considered this possibility before at an abstract level, and I had certainly heard
P1: GYQ Journal of Genetic Counseling [jgc]
ph131-jogc-375462
July 4, 2002
292
14:7
Style file version June 4th, 2002
Keilman
parents in our pediatric clinic express similar feelings about prenatal diagnosis. But the recognition that some parents would have rejected my beautiful daughter because of K-T was very painful in that moment. It is an interesting and strange balancing act when you are both a patient and a peer. I experience competing impulses to seek support from my nurturing colleagues while at the same time striving to maintain some privacy. I also feel torn between a desire to share first-hand insight about potential patient responses and a need to spare my colleagues the burden that comes with reminding them that my daughter, my husband, and I are also their patients. I started with questions, and I am still filled with questions, but they have changed over time. At 1 month of age we could not yet know our daughter’s personality style, but she has revealed a resilient spirit, which makes us very hopeful about her ability to cope with her differences. Still, I wonder how she will feel about my chosen profession when she is older. Will it be painful for her to know that I have facilitated pregnancy terminations for diagnoses that seem minor to her? Will this recognition result in her seeing herself as less than perfect, less valued, less loved? Will she wonder what my choices would have been if prenatal diagnosis had been available for K-T? And finally, how will she feel about this paper, that I have shared our story? As always, the greatest challenges are in the unknown. REFERENCES Gorlin RJ, Cohen MM, Levin LS (1990) Syndromes of the Head and Neck. New York: Oxford University Press. Jones KL (1997) Smith’s Recognizable Patterns of Human Malformation. Philadelphia: Saunders.
ph131-jogc-375462
July 4, 2002
14:7
Style file version June 4th, 2002
C 2002) Journal of Genetic Counseling, Vol. 11, No. 4, August 2002 (°
Genetic Counselor or Patient—Who Am I Today? Kristina Keilman1,2
My daughter has possible Klippel–Trenaunay (K-T) syndrome. After a complicated pregnancy and delivery, the fact that she might have K-T dawned on me rather slowly. Of course, the portwine birthmark on her abdomen and back was apparent at the time of her birth, but my husband and I felt that her birthmark was not a significant problem. In fact, he joked about it being a little piece of insurance that we would always be able to identify her in a crowd of naked babies. Her asymmetry must have been subtle at first, because I did not let myself realize that she had hemihypertrophy until she was about 3 weeks old. No one had noticed it before—not me, her father, the attending pediatrician, or even the geneticist I roped into doing a quick look right after she was born. Then one day when I was bathing her, her foot was in an odd position, and I started thinking about what it would be like if she had a mild clubfoot. It was that kind of anticipatory thinking that genetic counselors often do. Even before we become pregnant, genetic counselors spend time exploring, “What would I do if I had an amnio and my baby was diagnosed with trisomy 21? 45,X? Cystic fibrosis?” A couple of days later I must have been ready to explore again, because this time I looked very closely at her feet, now with the genetic counselor portion of my brain instead of the new mother portion. When I recognized that her legs and feet were different sizes, I was completely unprepared for the weight of sadness and panic that engulfed me. All I could think about was the scary photographs of K-T in Smith’s Recognizable Patterns of Human Malformation (Jones, 1997) or Syndromes of the Head and Neck (Gorlin et al., 1990). I had never counseled a family with a child with K-T, and I feared that her hemihypertrophy would progress to significant disfigurement and that she would have difficulty reaching motor milestones in the future. How was she going to be able to cope with being visibly different from other children? And how were we going to be able to help her? 1 Department
of Genetics, Kaiser Permanente, San Francisco, California.
2 Correspondence should be directed to Kristina Keilman, Department of Genetics, Kaiser Permanente,
2350 Geary Boulevard 3rd floor, San Francisco, California 94115; e-mail: [email protected]. 289 C 2002 National Society of Genetic Counselors, Inc. 1059-7700/02/0800-0289/1 °
P1: GYQ Journal of Genetic Counseling [jgc]
290
ph131-jogc-375462
July 4, 2002
14:7
Style file version June 4th, 2002
Keilman
How was I going to explain my sudden bout of hysterical tears to my husband? And why didn’t 9 years of genetic counseling experience make these concerns easier to address? Our little girl has now passed her first birthday, and at least some of these questions are starting to feel more answerable. Over the past year, the simultaneous experience of being both a patient and a counselor in my own department has taken me on a journey of rediscovering both joys and challenges in our work as genetic counselors. Once I accepted our daughter’s asymmetry, I could no longer tell myself that her portwine birthmark was an isolated birth defect. If she did have K-T or some other overgrowth syndrome, we wanted to know, so it was time for a genetics evaluation. I recalled that K-T was sporadic—you never can tell when that information you crammed into your head for ABGC Board examinations is going to come in handy. But my husband and I both knew that a genetics evaluation was going to help us regardless of the diagnostic outcome. Our first step was to choose a genetic counselor and a geneticist. We recognized that our request for services was in no way going to be a neutral experience for them. First of all, I anticipated that they would feel an added responsibility to do an extensive review of the literature since we were going to seek more information than the typical family. Also, in contrast with most patients, coping with my pain was not going to be a short-lived experience for anyone involved. We were going to see each other every workday, and reminders about the experience were likely to come up unexpectedly and at possibly unwelcome times. In some ways it was almost surreal to be counseled and at the same time observe my coworkers counsel us. Although the 2.5-h session was filled with many tears, there were also moments of laughter. Even somewhat mechanical activities like the physical exam served to lift some of the weight of our fears. By the end of the session, we felt more hopeful, even though we still could not know what our daughter would face in the future as a result of her possible K-T. Our geneticist and genetic counselor provided psychosocial support in a powerful way that was unique in a medical environment. Genetics was the medical discipline that put all of the pieces together to give us a holistic view of K-T. I do not believe that the strength of our response to genetic counseling was due solely to receiving special treatment from peers. In truth, I suspect we probably receive special treatment from every specialist we see since they know that I am a genetic counselor. I have always valued the work that we do as genetics professionals, but since I have been counseled myself I now feel this rather than just know it. Being the parent of a patient has also affected my approach to genetic counseling. The geneticists in my department have told me that I bring a renewed intensity to my preparation for general genetics cases. Since my daughter’s diagnosis, it definitely has been intellectually stimulating to immerse myself in learning everything I can about K-T. I think this intellectual stimulation has revitalized my thirst for knowledge about specific diagnoses for my patients, also. The flip side, however, is that it has sometimes felt intensely jarring to derive pleasure from the acquisition
P1: GYQ Journal of Genetic Counseling [jgc]
ph131-jogc-375462
July 4, 2002
Genetic Counselor or Patient—Who Am I Today?
14:7
Style file version June 4th, 2002
291
of knowledge about K-T when the impact is on this child I love so completely. I feel this same jarring sensation when the realization hits that the fascinating information I just learned about a specific syndrome is going to impact the parents of my patients, who love their children equally deeply. Concerns about countertransference cross my mind more frequently now than before. For example, I recently counseled the family of a newborn who had just been diagnosed with X-linked ichthyosis. Following a positive triple marker screen with very low estriol, his parents chose to have amniocentesis but they declined steroid sulfatase deficiency testing and knowledge of fetal gender during the pregnancy. Prenatally, I was struck by their awareness of their needs regarding timing and pacing of information acquisition, and it helped me recognize how my husband and I had also limited our search for information to bits that we could handle at any given time. Postnatally, their concerns about their son’s self-esteem echoed ours during our daughter’s first few weeks of life. In ways that I had not experienced before, I discovered I could anticipate not only the questions and fears they would express in our next encounter, but sometimes those they would express two or three contacts later. I found myself continually exploring whether these flashes of intuition were insight or projection. For example, at one point in our counseling session when the father was discussing treatment, the mother looked down at her son and began gently crying. It was a noticeable change, because she had been laughing a few moments before and had not yet cried with us. It struck me that she was envisioning her son as a teenager or young man, and she was wondering about his feelings about ichthyosis. Would he try to hide his differentlooking skin, or would he approach the world with confidence? What would it be like for him to tell potential intimate partners? I was flooded with a wave of sorrow as I remembered back to when these concerns crept into my mind during our daughter’s genetics evaluation. I tried to quickly assess the countertransference potential and ultimately decided to take the risk and explore these issues with the family. Luckily for me, the mother’s tears came from the same source as my own. After many consultations with coworkers, I have come to believe that flashes like this one usually reflected insight rather than projection and were helpful in counseling the family overall. Sometimes my reactions to my dual roles as parent and counselor take me by surprise. At a recent clinical meeting, our team considered connexin testing for a pregnant woman with a family history of deafness. After about 10 min of interesting discussion about the chances of detecting a mutation and the challenges of explaining the limitations of testing, one of the quieter counselors in our group asked us to consider the ethical implications of testing for this patient in light of the deaf community’s perceptions of prenatal diagnosis. I am not completely sure why, but in that moment it hit me emotionally for the first time that some of my prenatal patients would choose to terminate an affected pregnancy if K-T were prenatally diagnosable. I ran from the meeting, sobbing all the way to my office. I had considered this possibility before at an abstract level, and I had certainly heard
P1: GYQ Journal of Genetic Counseling [jgc]
ph131-jogc-375462
July 4, 2002
292
14:7
Style file version June 4th, 2002
Keilman
parents in our pediatric clinic express similar feelings about prenatal diagnosis. But the recognition that some parents would have rejected my beautiful daughter because of K-T was very painful in that moment. It is an interesting and strange balancing act when you are both a patient and a peer. I experience competing impulses to seek support from my nurturing colleagues while at the same time striving to maintain some privacy. I also feel torn between a desire to share first-hand insight about potential patient responses and a need to spare my colleagues the burden that comes with reminding them that my daughter, my husband, and I are also their patients. I started with questions, and I am still filled with questions, but they have changed over time. At 1 month of age we could not yet know our daughter’s personality style, but she has revealed a resilient spirit, which makes us very hopeful about her ability to cope with her differences. Still, I wonder how she will feel about my chosen profession when she is older. Will it be painful for her to know that I have facilitated pregnancy terminations for diagnoses that seem minor to her? Will this recognition result in her seeing herself as less than perfect, less valued, less loved? Will she wonder what my choices would have been if prenatal diagnosis had been available for K-T? And finally, how will she feel about this paper, that I have shared our story? As always, the greatest challenges are in the unknown. REFERENCES Gorlin RJ, Cohen MM, Levin LS (1990) Syndromes of the Head and Neck. New York: Oxford University Press. Jones KL (1997) Smith’s Recognizable Patterns of Human Malformation. Philadelphia: Saunders.
