Journal 5-18-2011Today is my first clinical day in prenatal setting. We had four patients. Three of them were referred due to advanced maternal age (AMA), one of them came to see us because the baby’s father’s older sister died early in her childhood due to congenital lactic acidosis. The following is what I’ve learned today.1. Genetic counseling session run by an experienced genetic counselor goes very smoothly. Observing my supervisor Tracy Gardner’s work is kind of joy. Her flexibility, immediate response to patient’s concerns, rhythm of the entire counseling session is very impressive. She started with addressing the urgent question or concerns the patients had first. During education part, she paid attention to the patient’s mood change, body language as well as facial expression. Then she either kept giving them informant or taking a break by talking about other issues in a relaxed manner. For example, I felt the patient and her partner were overwhelmed after listening to the information about sequential screening, diagnostic testing. Then Tracy paused a bit and asked what the partner did for a living. After they absorbed and possibly digested the information a bit, Tracy continued to talk about more details about amniocentesis. 2. Always focusing on risk assessment. The reason patients come to see us is to learn their risk of having a baby with problems. Because of the risk, they need to consider the tests. So risk assessment is running in entire session. In my mock session, I was confused with what to say and how to interpret risk of having a baby with NTD based on family history. Then I just said that “your family history does not add more risk to your current pregnancy”. In Tracy’s session, she explained every mentioned medical concern to patient regarding the risk for the baby to have any problems. For example, a patient’s brother had pyloric stenosis. None of his two children had pyloric stenosis. Tracy explained that pyloric stenosis is a multifactorial disorder and it happens more frequently in males than females. However, since the patient’s brother is the only one to have this problem, the baby’s risk to have pyloric stenosis is low. 3. The difference between experienced genetic counselors and beginner might lie in who controls the session. In my mock session, I was afraid of not having enough time to present every piece of information I have. It is dominated by what I want to tell the patients. Instead, Tracy’s session was established mutually. Tracy presented as much as information the patients needed to learn at the time when they were addressing the questions. In another word, talking amniocentesis before screening test if the patient is interested in knowing it first. I think beginner usually have a frame, at least I have now. The more cases we see, the more flexible we will be.4. Patient population will modify genetic counseling session. Our patients today are all well educated. One is a NICU nurse, one is a high school teacher, one is working in a company. Two of them had genetic counseling before. Using medical terms such as birth defects, chromosomal abnormality was not a problem to them. They had no problem of perceiving percentages or probabilities. Everybody seemed secured financially and emotionally. So we didn’t encounter any emotional stress among our patients. Educational part dominated the counseling session. We talked a lot about balance between benefits and risks in our counseling session. I think when a patient shows emotional stress, we genetic counselors should balance benefits and drawbacks of presenting information as well as psychosocial counseling. Journal 5-19-2011 Today was a light clinic day and my first day to work with prenatal patients. It was encouraging. I really appreciate my supervisor Tracy for practicing with me and giving me the opportunity of directly talking to patients.We had two patients, both were for AMA. The first one was obviously from middle class and presented by herself. She had the experience of genetic counseling before due to two spontaneous miscarriages. The karyotypes from her and her partner’s cells turned out to be normal. I took the family history for her. She was very sweet and giving me a lot of information. My second patient, I think, was from lower class. I discussed with her about testing options followed by taking her family history after Tracy set up our agenda and talked about chromosomal abnormalities. Taking family history is not difficult for me in general. But I do have problems with asking questions like “are they from the same dad?” or “do you (the partner) have any other kids?” I am well aware of my cultural background, worldview and judgment on this issue which is attributable to the fact that I forgot to ask the questions mentioned above in my second case. It is not right to have the presumption that the kids, if any, would be from the couple sitting right in front of me. I will keep working hard on that issue. Another problem was when the patient told me her nephew had only one kidney, I asked “which one”. Although I realized this was an inappropriate question immediately and asked “how’s he doing?”, I felt bad about it. My scientific way of thinking blocked my way of thinking as a genetic counselor when counseling skills could come in. This is challenging for me but I have to change.Talking about testing options was fun. Tracy thought I did a great job and my tone, pace, and body language were good for this case. However, I am not sure how much information the patient took with her. I realized that the couple in the second case seemed not care or realize their risk. They came to us just because their doctor told them to. So the man was barely listening to me and the woman (proband) showed little interest though she was listening to me and nodding her head. They rejected diagnostic tests and were reluctant to pursue sequential screening either. A genetic counselor is supposed to notice MCV level in patients’ lab results. For some unknown reason, we didn’t receive the lab results of the both patients for today. So I didn’t know their MCV levels. In the second case, I noticed the patient took “iron pills”. It rang a bell of anemia. It turned out that she had anemia and she is African American. Her partner was reported to be from West India. Therefore, they are in higher risk of having hemoglobinopathies. I was very excited that I brought up and talked about hemoglobinopathies with Tracy before we started this case. But I only focused on testing options today. In short, I will keep practicing whenever we have a light clinic day. Pay more attention to asking questions “sensitive” to me. I will practice contracting, setting up agenda, talking about chromosomal abnormalities as well as taking family history and testing options since next week, if possible. I am not ready for emotional cases. But will observe whenever it comes.Journal 5-25-2011Patient 2011-05-25-01 presented with her husband and a supporter. Unfortunately I don’t remember what kind of group the supporter came from but related to women with disabled kids. Patient will be 39 y/o at delivery. She turned down every screening and previous counseling. U/S at 12 wks of GA showed NT was about two folds higher than the cutoff value, indicating the baby’s higher risk of chromosomal abnormalities. U/S at 19wks of GA showed echogenic left ventricle focus, a marker of baby’s left ventricle, not necessarily to indicate the baby is affected. U/S at 23 wks of GA showed multicystic kidney and IUGR. She was 23 wks of GA when she came to see us. Family and medical history revealed that she developed stroke last year and took medications for stroke and depression before she realized the pregnancy. This is apparently not an easy case for me. Regardless of her medical conditions, this patient was very talkative. She interacted a lot. Her supporter had to remind her that “don’t talk too much, just say yes or no”. So I had to stop and redirect them when taking family history. This was a good practice for me. Tracy did the counseling part. She first assessed family history and addressed the patient’s concerns regarding multicystic kidney disease. Then Tracy discussed with her about her medication exposure before and maybe during pregnancy. Tracy also had to redirect the patient several times to make sure their questions would be taken care of, if not immediately. In my opinion, it is good that a patient interact with GC in the whole session. But on the flip side, too much interaction sometimes would break a session into pieces. I am not sure how much information the patient took with her. The patient in the session asked about Down syndrome and Trisomy 18. And she seemed frightened to have a baby with Trisomy 18 because of the severity. She told us she was fine to have a baby with Down syndrome. So she declined amniocentesis because she would not terminate pregnancy anyway. It is interesting to learn so many people would choose neither screening nor diagnostic testing only because they would not terminate the pregnancy. So far, none of patients mentioned it is because of their religion or moral values. But they are determined to keep the baby even the baby has any medical problems. I am honestly touched by the thoughts though I would have different idea. I have no trouble to terminate a baby with medical problems, though I don’t agree termination based upon gender. I am aware that I should not push or demonstrate my judgmental opinions when facing a patient who will keep the baby no matter what medical disabilities the baby might have. Journal 5-26-2011Patient 2011-05-26-03 is 24 years old and sequential screening show her risk of having a Down syndrome baby is about 1/10,000. However, level II ultrasound demonstrated structural abnormalities including duodenal atresia, enlarged heart with hypertrophic right ventricle, seemingly narrowed pulmonary artery as well as atrioventricular septal defects. She was a smoker and moderate drinker. She was treated for sexually transmitted diseases. She came to us with her boyfriend. Her pregnancy is with her previous partner, who had 3 daughters. She also terminated a pregnancy with previous partner due to personal reasons. This is an awkward situation for me to take family history because we usually think the man a pregnant woman with is the baby’s dad, if not the woman’s husband. But in this case, the man is her current boyfriend, has no blood relation with the baby. Since she didn’t mention the man when she checked in, I was sitting there thinking the relationship between them. So instead of saying your partner, I used “baby’s dad” and focused on my job. She seemed really relaxed and comfortable with talking about baby’s dad’s family history in front of her boyfriend. I am glad I kept my own feelings inside and be professional. It is so common to be challenged by different life style, different perspectives and attitude toward life. We don’t have to agree with their life styles. But we sure can keep our own to ourselves. Regarding counseling part, we informed her ultrasound results first. She was not surprised or devastated since she might have learned the results from her OB doctor, though not in detail. At least I didn’t read much emotional stress from her. So Tracy talked about amniocentesis and she decided to do it right after GC session. Tracy also mentioned microarray in case no chromosomal abnormalities is found. However, she turned it down due to the fact she only has Medicaid. I spent some time looking up online resources and tried to find syndromes related to duodenal atresia and heart defects. I did find some such as CHARGE syndrome or 22q. Then I realized that at this moment the patient didn’t need to learn if the abnormalities indicated by ultrasound is isolated or syndromatic. She needed to find out first of all if her baby has problem. Why bother to think about syndromes now? Many syndromes cannot be accurately diagnosed prenatally only based on ultrasound findings. So I need to focus on a patient’s immediate concerns as part of counseling. So lessons I’ve learned today: keep your own worldviews to yourself, focus on patient’s pregnancy and immediate concerns in prenatal settings. P.S. On 6/2/2011, I learned that her amnio is normal, but fetal cardiac U/S done in CHOP strongly suggested Tetralogy of Fallot. Testing for 22q was ordered. Journal 06-01-2011Well, as I am getting comfortable with talking to patients, I need to pay more attention to what I am talking. I got a good lesson today.We had three patients today, all AMA. So I got good opportunities to practice the entire sessions with the help of Tracy. The first family was really nice and easy going. The pitfall of it was it took me longer to get pedigree done since I had to redirect them again and again when they started talking about other family issues. The session lasted for 1 hour. Thereby, approaching the end of session, I noticed the lady wanted to go to bathroom. But I need to give them information about carrier screening. The woman agreed to have SMA and Fragile X, which made me feel a bit better that I didn’t waste their time to talk about it. Then I felt I noticed their needs but I had no clear idea how to respond since I have my agenda, especially when time was limited.When serving the second family, I talked faster because I spent too much time on the first family and we had one more family who was waiting. In addition, I paid attention to my weaknesses Tracy brought up. As a consequence, I made another mistake. Though I don’t remember what exactly I said in the session, I knew the problem was I meant sequential screening and diagnostic testing was for “all problems (disease)”. Similar problems happened to my last patient when I talked about testing options. Now I realize that I should have specified. Sequential screening is for Trisomy 21, 18 and NTD. Amniocentesis and CVS can detect 99.9% of chromosomal abnormalities. But every testing has limitations. For example, there is about 5% false positive for sequential screening. Amniocentesis or CVS cannot detect structural defect such as heart defects. The problem is patient hears whatever I say. They have no background knowledge and they are easy to be misled, especially by professionals because usually ordinary people trust professionals. Any inaccurate information will possibly lead to law suits. Also in the second session, when I asked family history, the patient mentioned her mom died from lymphoma and possible ovarian cancer. I asked her when it was diagnosed in order to find out if her mom’s cancers were early onset and if it could be inherited. However, the question brought back her sad memories about her mom as Tracy told me. I sensed that I might have asked too much at that moment and I also sensed that I should say something to show my concerns. But again overwhelmed by information I should offer in limited time, I just kept asking questions about her other family members. Of course, she was doing fine. But it would be nice to show my sympathy or at least pause a bit in order to give the patient a break.My feeling is sometimes I don’t know how to respond appropriately at the moment when the patient demonstrates emotional stress though I may realize it. I admit I am still focusing on education now and it takes me a bit longer time to collecting family and medical history. So I usually focus on giving all information. Another problem I found today is active listening skills. I noticed I didn’t catch everything the patient talked. It could be a disease strange to me or their quick comments on their conditions. Lessons learned today:1. Be specific about testing options. 2. Learn to respond to patient’s emotional stress as possible as I can.3. Improve active listening while taking pedigree. Journal 06-02-2011We had an interesting case today for patient’s psychosocial issues. The patient is 38 years old at delivery. She had a history of chronic high blood pressure and has been on Diovan, an ACE inhibitor. Her medical history also revealed that she had depression and anxiety since age of 9. Because of her mental problems she was on antidepressants uch as Riperdal, celexa and buspar. She was a smoker, and alcohol and marijuana abuser. She is single and had two daughters with her first partner, and now she is pregnant with her current partner, who is 18 years younger than her. She was physically and emotionally abused based on her chart. Her sister killed herself and her brother died in a car accident. Her partner’s father was lately robbed and murdered. She is currently followed by a psychotherapy group. Since she decided to stop her medication for the benefit of her baby without consulting with any doctor, her depression and anxiety came back. When we called her, she was very upset due to long time waiting (maybe 20 min). I found her outside of the facility after one of patient in waiting room told me she could have got on a van. Luckily, we brought her back. After she took a seat, she started shaking her legs. I noticed and thought she might need some help. So I slowed down my speaking and tried to clarify what I was saying. Then Tracy took over by asking her concerns about her pregnancy. Tracy’s tone was soft and caring. She had good eye contact with the patient. She was very patient with the patient’s concerns and talked to her in a slow pace. All of these calmed down the patient. When patient said she stopped the medications because she didn’t want her baby to be affected. Tracy praised her by saying “you care about your baby”. When the patient mentioned her brother and sister died, Tracy showed sympathy and care by saying “that must be very hard for you”. All of these won the trust of the patient and made the whole session smoothly. Patient kept shaking her legs or feet or upper body in the entire session, I took it as signs of her anxiety. But she seemed to listen to Tracy carefully. When talking about smoking and drug abusing, she tried to convince us she cut the amount or even stopped. But as a GC, we recommended her to cut more and even introduced her a group (or hotline, don’t remember exactly which one) to seek help from. After the session, once Tracy found out that three patients were before her for U/S scanning, Tracy talked to a sonographer as well as the manager so that she could get her scan after only one patient. Tracy informed her. Since she was sitting there, Tracy stood on one of her knees when talking to her. I was impressed by Tracy’s patient oriented work style. She personalized her session based upon every single patient’s needs and concerns. She helped them as possible as she can, even on the order they have their U/S. We always say GCs’ job is helping patients. Apparently, not only within a session by educating genetics, but also outside of a session whenever they need.This case is difficult because of the patient’s mental issues. So it would be more difficult to establish rapport with such patients, especially when they are not on medications and undergoing unstable mood. Calming them down and addressing their concerns as well as encouraging them from time to time might be helpful. Regarding the medication exposure, usually patients decide to stop taking it once they realize the pregnancy. Sometimes it is not necessary or even makes things worse. For example, since our patient today has severe depression and anxiety and has been taking those medications for a long time, she might want to talk to her PCP first. Most likely, she can keep taking them in a lower dose up until third trimester. In this course, we will monitor the baby closely by serial U/S to make sure the risk of developing congenital birth defects is low.
