From our anonymous insider…
Genetics week is taught by a 53-year-old pediatrician specializing in complex genetic diseases. Jane described her as “brilliant, but slightly awkward.” She began: “You all know when you walk by someone, say at the grocery store, who just doesn’t look normal. We are going to develop a systematic exam and language to explain these features.” We scrolled through slides of patients with various syndromes. “We’ll start with severe dysmorphic characteristics, and then use the same analysis on less severe phenotypes.” We look at kids with low set ears, flat nasal bridge, presence of epicanthal folds (skin flap covering lacrimal duct in lower nasal corner of the eye), smooth philtrum, and a high interpupillary distance. The geneticist: “You would be surprised how many terminologies in genetics have had to be changed over the years because they are no longer politically correct. We’ve changed simian crease to single palmar crease. We no longer use the term Mongoloid to describe upward-sloping eyes.” (Most people have two palmar creases.)
After the 12 PowerPoint images, we play “Is it Normal?” in groups of six. Each group rotates through 15 stations, where we analyze an image and decide if it is normal or abnormal. The geneticist explained this is the same game they play at conferences: “Whenever we go to the annual genetic disease conference, the main lecture is preceded by a game where each geneticist in the audience tries to beat the computer in identifying genetic diseases from pictures. The computer gets better and better each year. Humans still win though.” Straight-Shooter Sally: “I cannot wait until we have this technology in the office. I won’t have to memorize this stuff.”
[Editor: the Google AlphaGo team trained a computer to screen medical images. See “Development and Validation of a Deep Learning Algorithm for Detection of Diabetic Retinopathy in Retinal Fundus Photographs” (Gulshan, et al. 2016; JAMA). Maybe they will start selling ads for medical school loan refinancing next to the results?]
She concluded by explaining linkage analysis studies using VNTRs (variable number of tandem repeats). These regions exist on each chromosome and are passed through generations. “VNTRs provide a genetic fingerprint of each individual. I practiced in the age of patents on inheritance tests for specific genes. A family I worked with had autosomal dominant polycystic kidney disease (AD PCKD). The father needed a kidney, and his daughter wanted to donate. We needed to ensure the daughter did not have AD PCKD, but a patent troll had purchased the polycystin gene patent and raised the price to $10,000. Instead of paying the troll, we determined that she did not have the disease using an older technology linkage analysis of the family. We found a VNTR associated with the polycystin gene of the deceased father. We were able to clear the daughter based on her lack of this VNTR.”
Gigolo Giorgio: “How do people think of this stuff?! Not many people can do what she does. She has a special skill.” Lanky Luke: “I want each of my future children to go see her for a check-up. Make sure there is nothing wrong with them.”
After lecture, we debate ethics cases in groups of 10 while a licensed genetic counselor and pediatrician rotate. For each case, we divided into 2 subgroups of 5 to take each side of the debate. Frustratingly, we never learned an authoritative resolution of any of these issue. [Editor: perhaps it varies by state?]
Case 1: Huntington’s disease testing for a minor. A mother wishes to test her 8-year-old child whose father died from Huntington’s disease. Anticipation is a phenomenon in certain genetic diseases where the onset and severity of the disease increases as the disease is passed down through generations. For example, a grandfather may get Huntington’s at age 45, the mother at age 40, and child at age 30. Straight-Shooter Sally: “The mother is violating the future autonomy of the child. We should wait until he is 18.” The pediatrician added: “We also need to consider if this test is indicated. Would the answer change treatment?” Jane: “Does the mother have a right to know if her child has the disease? Perhaps she could get the test, and withhold the results from her child until he is ready to make a decision.”
Case 2: Adoption of a child at risk for Fragile X syndrome, an inherited disease characterized by moderate mental retardation and dysmorphic features. Rebecca, a 14-year-old with Fragile X syndrome, is raped and becomes pregnant. The rapist is imprisoned. The family places the child on the adoption list, but declines amniocentesis testing for the child. The family requests you, the physician, withhold the 50 percent risk of the child having Fragile X syndrome from the adoption agency to improve chances the child gets placed into a “good” family. Should the patient be required to get tested via an amniocentesis? Do you inform the adoption agency or withhold the information even if requested? Pinterest Penelope: “I don’t think you can force a mother to get a test she does not want. Amniocentesis is not without complications.” Straight-Shooter Sally: “I understand that, but an adoption agency should have the right to decline to list the child then.” Lanky Luke: “It would violate the trust in the adoption system. Fewer families would be willing to adopt a child if they risk not knowing the health of the baby.” Jane: “There are families that are actually seeking to adopt special needs children.” Lanky Luke: “These are interesting dilemmas, but I do not believe it is doctor’s role to decide what, from their perspective, is the right course of action. We should have started by studying the laws.”
[Editor: The same-sex couple that ministers to the spiritual needs of the Millionaires for Obama in our Boston suburb has two special needs children, neither of whom has any genetic connection to either father. A handful of deeply closeted Deplorables in our town occasionally grumble about the cost to the school system of providing for these voluntarily adopted children of the pastor and his husband.]
Case 3: A pregnant alcoholic heroin user refuses to enter rehab and stop abusing these teratogenic compounds (those that can disturb the development of the embryo or fetus). My EM facilitator commented, “This happens much more than you can imagine.” Can you force her to receive addiction treatment or counseling? Jane: “This is child abuse.” Lanky Luke: “Is this not a double standard? If you assume the fetus has a right to not be harmed by teratogens, would not this argue against abortion after some age?” We discussed Wisconsin’s 1997 Unborn Child Protection Act, whose constitutionality was still being argued 20 years later (see “Supreme Court allows Wisconsin to enforce ‘Unborn Child’ law” (Wisconsin Gazette, August 11, 2017). Type-A Anita became passionate on the subject of preserving abortion rights: “You need to educate the mother. I wouldn’t consider [daily heroin consumption] child abuse.” (The mom is unaware that heroin and alcohol are bad for kids?)
Breaking from the genetics theme, on Thursday we had three hours of lecture on back pain. A soft-spoken orthopedist with a Southern accent explained, “Doctors hate dealing with back pain. Ironically is is also the number one cause of office visits and 4 out of 5 malpractice lawsuits are related to back pain.” His example of a typical case: “I fell while working at Walmart, and I want to sue Walmart for hurting my back. I want to get opioids and a check every month.”
He continued: “Real back pain is debilitating though. Always ask the patient to show you where the pain is. A lot of people say back pain, but the issue is in the SI (sacroiliac) joint, the hip, or the kidney.” How to tell the difference between real and malingering? Start with Waddell’s sign: push on spine and ask to rotate hips. “My favorite is to ask patients who come in limping to limp backwards. No one ever practices limping backwards.” He added, “Be cautious though. They will immediately know that you know they are FOS [“full of sh*t”]. Makes rest of the visit a little awkward. My advice is to refer any back pain patient to orthopedics. We are trained to handle the real ones, and the FOS ones. I always ask how patients make the pain less. Most people with real back pain have found a way to lessen the symptoms. The exception is a herniated disk. Someone with a herniated disk has trouble finding comfort anywhere.”
“We’re the Microwave generation,” said our 45-year-old orthopedist. “Patients with a chronic condition expect immediate relief from one office visit. Our main cure is time, however. 8 out of 10 patients with back pain will be better in 3 months with none to limited therapy; 9 out of 10 people will be better in 6 months. It is tough to ask someone to be in this excruciating pain for three months though.”
That afternoon, a geriatrician gave a lecture on dementia and then we broke into small groups to practice mental status exams, including the MoCA (Montreal Cognitive Assessment), recently taken by President Trump. Anita projected a picture of Rear Adm. Ronny Jackson, the physician who “stamped” Trump’s exam. Anita: “There is no need to worry guys, our Commander in Chief is smart.” The Hillary-supporting students proceeded to trash Dr. Jackson’s credentials. Straight-Shooter Sally: “I am shocked that Trump scored 30/30.” A handful within our group matched the President’s score, but most of us lost 2-3 points on short term memory. Type-A Anita, looking at her near-the-bottom score, concluded: “Trump lied. Doesn’t it amaze you how he can lie so easily and so much?”
Our patient case: Connor, a 6’4″ 59-year-old CPA presents on his wife’s urging for forgetfulness. Family history reveals his grandfather and father had dementia in his 60s. (Lifetime risk of developing Alzheimer’s is 10 percent, but the risk is 25 percent when a first-degree relative has Alzheimer’s and the correlation is stronger for early-onset dementia.) Connor: “My wife and I grew up together as neighborhood friends from kindergarten and started dating in high school. She saw my family deal with my father’s dementia. He would walk out of our house and get lost for hours until the police picked him up. He got very aggressive in his 70s before he died.” (Connor was speaking to us three years after his diagnosis, but he remained intelligent and articulate.)
Martha, who had been a stay-at-home wife, took over: “I started noticing things years before he was diagnosed. He would come home later and later from work. Things would take him longer. He was having to stay much later every day to finish the same amount of work, until 8:00 or 9:00 pm in the office. He lost his sense of time.” Connor was diagnosed with early-onset Alzheimer’s in 2014 and retired from his accounting job.
Martha: “One conflict was about our taxes. I know nothing about finances. He was adamant about continuing to do them. This became a crisis in 2016. He kept saying he would be able to do the taxes. The deadline was approaching and he still had barely started it.” Connor was ashamed about having to file an extension and asking for help from a CPA friend: “I just couldn’t get all the papers together.”
Students asked Martha how her typical day had changed. “We talk about something, and ten minutes later he forgets. It can be infuriating. He’ll forget where we are driving to; he’ll forget to pick something at the store that I told him ten times. I try to be more patient. I pray every day for the strength to be patient.”
What other changes had she noticed? “He has some balance issues. He used to love playing basketball with our grandchildren. He fell one time and has had to stop. He has the same preferences. He likes the same food.” Ambitious Al asked about intimacy. Martha: “He looks the same, but I know he has become a different person. We do not sleep together. I have not slept with other people, but I have considered it.” Connor was visible uncomfortable.
Mischievous Mary asked the geriatrician: “What are the guidelines to getting genetic testing for Alzheimer’s?” “As of now, the guidelines do not support testing patients, early or late despite the genetic risks. This may change as the costs come down, but until there is some prevention therapy, the test will not change management of the disease.”
Mischievous Mary: “Martha made the disease all about her. I wish we heard a little more from Connor.” Pinterest Penelope: “That was 45 minutes of trashing poor Connor.”
[Editor: Anyone who stays with an Alzheimer’s-afflicted spouse in our age of no-fault, no-shame divorce, should be celebrated for heroism, not criticized for speaking frankly. Martha could walk down to the local family court at any time and get a warm reception by saying “Connor is annoying me with his illness so I’d like to take 50 percent of the cash and pension and move to a beach condo in Florida.”]
Straight-Shooter Sally: “This was the most powerful patient case.” Jane: “It gave me chills.”
Rather than drive one hour to her rural home, Jane’s sister used her key to move into our house for stomach flu recovery. We diagnosed her with norovirus based on profuse diarrhea, fever, and chills. The sister’s nursing colleague bought over IV kits and saline bags, and we used the skills we learned in Year 2, Week 13 to hook her up to a saline drip. Rather that welcoming this this opportunity to practice her skills at establishing IVs, Jane was concerned about catching the bug.
Jane and her Health Professions Scholarship Program (HPSP) military comrades did not get paychecks on time due to a one-day government shutdown. “I only learned because the HPSP Facebook group is blowing up. People are yelling at each other about whom to blame — Trump or the democrats.”
Statistics for the week… Study: 14 hours. Sleep: 6 hours/night; Fun: 2 nights. Example fun: MedProm. Nervous Nancy hosted a pregame before the short walk over to the conference center ballroom. The rumors of Persevering Pete dating an M1 are true and his M3 ex departed shortly after the new couple arrived. Faculty exited en masse as students stormed the dancefloor to Justin Timberlake’s Filthy.