A Country Doctor Writes:

Archive Page 164

Children Who Never Grew

Published January 6, 2014 Medical History , Progress Notes 3 Comments

I have two patients with phenylketonuria. Both are about my age. Laura, a non-verbal, slender woman with weathered features but the mind of a very young child, lives in the community. Her sister, Regina, has lived all her life in a nursing home. She doesn’t have a wrinkle in her face, and seems mostly unaware of her surroundings.

The two girls were born several years before Dr. Robert Guthrie developed the blood test for phenylketonuria, and a decade before routine PKU screening was introduced in this country. I often wonder what the parents of these two girls knew about their condition, where they went for a diagnosis, and if they even got one while Laura and Regina were still young. In many cases back then, PKU went undiagnosed as the specific cause of mental retardation.

Pulitzer and Nobel Prize winning author Pearl S. Buck gave birth to a daughter, Carol, in 1921. Carol did not develop normally, and on the advice of her Chinese doctors, Pearl Buck traveled to the Mayo Clinic to have her evaluated. She left the clinic and the United States without a diagnosis, except “I don’t know. Somewhere along the way, before birth or after, growth stopped”.

Pearl Buck cared for Carol at home until age nine. At that point she returned to America. She wrote “The Good Earth”, her book about her experiences in China, in 1931 with the hope of making enough money to support her daughter, who was institutionalized around that time. In 1950, she wrote “The Child Who Never Grew”, a memoir about her daughter. It wasn’t until ten years later that the cause of Carol’s mental retardation was finally diagnosed as phenylketonuria, the genetic disease that wasn’t even known until Carol was in her early teens.

The disease had first been described in Norway twenty years before Laura and Regina were born. Its discovery involved another set of siblings:

Dr. Asbjørn Følling, who had been a chemist before studying medicine, was asked to evaluate a brother and sister with severe mental retardation. His son, Ivar, told the story in a speech on the sixty year anniversary of this event in 1994:

“The stage is set in 1934. A mother with two severely mentally retarded children came to see my father, and to ask for his advice…She had also noticed that a peculiar smell always clung to her children…

The girl, 6.5 years old, could say a few words, was fond of music, had a spastic gait and a whimsy way of moving about, apparently at random. At times she had an enormous appetite, at other times none. The boy, almost 4 years old, could not speak or walk, eat or drink on his own. He was unable to fix his eyes on anything, and stool and urine habits were those of a baby.”

Dr. Følling’s son went on to describe his father’s painstaking chemical analyses of the children’s urine over the next several months that led to the realization that they both excreted phenylpyruvic acid, which healthy individuals don’t. The disease, phenylketonuria, is still called Følling’s disease in Norway.

The diet necessary for PKU patients was slowly established once Dr. Følling’s chemical analyses of urine hinted at their abnormal breakdown of the essential amino acid phenylalanine. An infant formula was developed in 1951. There are now protein supplements with low levels of phenylalanine, and also a pill that lowers phenylalanine levels, Kuvan (sapropterin), developed in the last decade.

Laura comes to see me every three to four months. I see her sister, Regina, every week during my nursing home rounds. When I see her, I always think about the life changing benefits of the newborn PKU test that came about in my own lifetime. Laura and Regina are part of the history of medicine, some of the last few with a cruel disease few doctors today have ever seen. I feel sad and humbled in the presence of these two contemporaries of mine, two children who never grew, but I also feel inspired by the steady progress of basic science.

One Visit, One Problem?

Published January 4, 2014 Reflections 3 Comments

The other day I received my copy of the periodic newsletter of our neighboring Canadian medical society. It made me realize that both countries’ primary care doctors, in spite of our entirely different health care systems, are facing some of the same issues.

The bulletin warned Canadian doctors not to enforce a one-problem-per-visit policy, but to offer more comprehensive care to their patients.

The way doctors and clinics are paid in most settings here, two short visits are reimbursed at a much higher rate than one long and complex visit that takes up as much or more time. When patients feel the pinch of copays, travel costs and lost time at work for doctors’ appointments, tensions between the agendas of health care consumers and providers are inevitable.

It can be challenging enough to provide a healing atmosphere in a busy clinic. When doctors feel so much pressure that they become mercenary about their time, any hope of healing is lost.

I never understood the logic behind the one-problem-per-visit way of rationing health care. I do accept that the time we have to spend with our patients is finite, but there is usually some wiggle-room. I tend to be upfront with patients about how much time they were scheduled for. Some patients require extra time for even the seemingly most straightforward problem, but I have many patients who can bring up several problems and allow me to address them in a fifteen minute visit.

A patient with abdominal pain and joint stiffness may have an inflammatory bowel disease that explains the two seemingly unrelated symptoms.

A patient with pneumonia and a raging grief reaction needs both issues addressed in that visit, most likely with early follow-up for both problems.

A person with uncontrolled diabetes never has just high blood sugars; there is always a multifaceted story behind the numbers. That story often touches deep seated issues like self worth and depression.

Doctors in today’s health care machines, not just in our country, seem to think of themselves too often as widget makers, and not as healers. If we deliver only cookie-cutter health care, perhaps every aspect of our work is measurable and more of a commodity than a unique, personalized service. But, by reducing ourselves to generic providers of mass market care, we breed discontent among our patients and burnout within ourselves.

My wife often points out that when I hurry to do things around the house, I become less efficient and actually get less done than if I just plod along and do what needs to be done without fretting about it. In my work, I have just that ability. I am blessed to most of the time be able to enter the exam room with a mind free from the clutter of busy-ness and engage with my patients in an unhurried manner. Sometimes, when I am running late, I will enter the room and literally sigh before sitting down with an apology about running late because of a tight schedule. Patients invite me to relax, and I show them that all my attention is on them at that moment. Not being scattered allows me to accomplish more in a short time.

We need to always think of ourselves as “selling” our expertise and experience, not just our time. An appointment of any length can be effective or ineffective. A brief but well planned visit, where we enter the room prepared and where our documentation in the medical record doesn’t detract from the patient interaction, is more satisfying to the patient and the doctor, and gives some room for connecting with the person behind the symptom.

If we don’t fully master our EMR technology, we will be distracted and ineffective during the visit, and we could fail to document our clinical thinking well enough to be effective in follow-up visits.

I also think we as physicians need to always value the personal aspect of the work we do in order to be of any real help to our patients. If everything about our care is ever so correct, but bland and uninspired, we invite demands for more, as patients feel unsatisfied. If we spend our allotted fifteen minutes delivering exceptional care, our professional satisfaction will carry us further. Our patients will not feel cheated the way many do when we are too stressed to even recognize their needs, let alone begin to address them with skill and compassion.

Signed, Harvey Cushing

Published December 11, 2013 Medical History , Progress Notes 1 Comment

A couple of birthdays ago, my wife wanted to buy me a book by or about William Osler. She had watched and listened as I read from his book on the history of medicine and as I searched online for quotes by him.

We had both heard of Harvey Cushing’s biography of Osler. On one of the larger online booksellers’ websites, she found the only available set at the time of this two-volume work, and ordered it.

A week or so before my birthday, I was on the phone with her during my lunch break when she opened the package. Of course, I didn’t know what she was doing. All I heard was the rustling of paper and then her words:

“Oh, my gosh!”

On July 18, I said the same thing when I opened volume one. There, on the first page, was a flowing inscription in brownish-black fountain pen ink, signed “Harvey Cushing”. The books were not sold with this fact stated, and would have fetched thousands of dollars if they had been.

This biography of the father of American medicine, written and signed by the father of modern neurosurgery, is a source of inspiration I often return to. It provided most of the phrases I used in my 2011 post “A Christmas Message to All Physicians from Sir William Osler”.

Osler, our continent’s foremost internist, may be many physician’s imaginary mentor, but Cushing was quite a man himself, and was America’s most renowned surgeon. He introduced blood pressure recording to the United States, for example. He became a professor at age 32, pioneered brain research and neurosurgery, described the disease we now call Cushing’s Disease, wrote 14 books, only 9 of which were about surgery, and earned honorary degrees in literature, science and the arts. After reaching the mandatory retirement age of surgeons in Massachusetts, 63, he continued to teach and also worked extensively as a military surgeon.

Thomas P. Duffy, in a 2005 article entitled “The Osler-Cushing Covenant”, writes about the two men:

“In 1900 William Osler established a friendship with Harvey Cushing that encompassed the personal and professional aspects of their lives for over two decades. Their shared participation in the covenant of medicine shaped an intense friendship and mentoring relationship that profited both individuals immeasurably. The choice of Cushing as the recipient of Osler’s mentoring had its origins in their rearing, avocations, and in the way of life that they shared. In Cushing, Osler identified a surrogate son who joined with him in defining the course of medicine and surgery over the next century.”

Osler, twenty years older than Cushing, opened his home to Cushing, as he had done to many other students, but with Cushing, the friendship also included Cushing’s young wife and their children, who knew William and Grace Osler as Aunt and Uncle.

In a twist of fate, Osler’s own son, Revere, born around the time Osler and Cushing first met, was critically wounded at age 21 in World War I, and was taken to a field hospital where the surgeon on duty was Harvey Cushing. Revere’s life could not be saved, and every year on the anniversary of his death, Osler wrote to Cushing, expressing his relief that his son had died in Cushing’s presence.

At Osler’s funeral, Cushing delivered a eulogy, in which he referred to Osler as his “spiritual father”. Osler’s widow then asked him to write her husband’s biography, a task that took him four years to complete. The 1,400 page book earned him a Pulitzer Prize in 1926.

Two quotes by Harvey Cushing speak of his own compassion and optimism:

“A physician is obligated to consider more than a diseased organ, more even than the whole man – he must view the man in his world.”

“The capacity of man himself is only revealed when, under stress and responsibility, he breaks through his educational shell, and he may then be a splendid surprise to himself no less than to this teachers.”

Of Osler, his mentor and father figure, Harvey Cushing writes:

“He advanced the science of medicine, he enriched literature and the humanities; yet individually he had greater power. He became a friend of all he met – he knew the workings of the human heart metaphorically as well as physically. He joyed with the joys and wept with the sorrows of the humblest of those who were proud to be his pupils. He stooped to lift them up to the place of his royal friendship, and the magic touchstone of his generous personality helped many a desponder in the rugged paths of life. He achieved many honors and many dignities, but the proudest of all was his unwritten title, the Young Man’s Friend.”

Words of a son; signed, Harvey Cushing.

Pain and Suffering

Published December 9, 2013 Reflections 2 Comments

“Suffering ceases to be suffering in some way at the moment it finds a meaning” Viktor Frankl

“It is much more important to know what sort of a patient has a disease than what sort of a disease a patient has” William Osler

Back in the 1990’s when pain was the newest vital sign, physicians were mandated to treat it, often with powerful medications and without truly understanding the cause and significance of the pain for individual patients.

Plato and Aristotle didn’t include pain as one of the senses, but described it as an emotion. The word “pain” is derived from Poine or Poena, the Greek goddess of revenge and the Roman spirit of punishment. Her name is also the origin of the word penalty.

Of course, pain was never measured objectively in antiquity or when it became a “vital sign” a couple of decades ago. It still can’t be measured, which makes it no more of an objective clinical sign than someone guessing their temperature without a thermometer.

“Pain and Suffering” is a legal constellation that equates the significance of the two afflictions; doctors, however, have wanted to think of the two as separate, one or the other, treated differently. In many instances, doctors treated only one – the one we call pain – and skirted around the other. We have pain specialists, but perhaps only end-of-life care formally addresses suffering; it is seldom a topic in everyday medicine.

How many times, when a patient has said “I hurt” have I asked “where” instead of “how” or “tell me more”, assuming the Chief Complaint is physical.

How many patients with chronic pain are unrelieved by our usual pain medications? And how many of them receive the label “psychosomatic”, but little help from their doctors?

A few weeks ago, I came across a short piece by Dr. Thomas H. Lee in The New England Journal of Medicine about suffering. I have continued to think about it ever since.

I think medicine embraced pain assessment and pain treatment in a way that overcompensated for our ineptitude at mitigating suffering. Even as we treat patients’ pain, we sometimes cause suffering through the dehumanizing way our clinics and hospitals work.

Eric Cassell describes suffering as something that happens when our personhood is threatened. Sometimes physical pain, disability or the threat of dying is the cause of suffering, but sometimes the threat to personhood is loss in other spheres. In order to alleviate suffering, physicians need to understand something about the nature and meaning of this threat.

Doctors in our era are trained to treat diseases. We are not often formally trained to explore the person with the disease; this is something we are left to discover on our own, when the disease paradigm doesn’t seem to fit the patient we are trying to help.

The movement we now call “narrative medicine” is focused on the subjective meaning of disease and suffering. It offers a way out of the mechanized mindset of evidence-based medicine that is built solely around the lowest common denominators of diagnoses and treatments. The corporate-scientific medicine of today dismisses the statistical “outliers” and individual variations between patients in its efforts to help the greatest number of individuals, instead of each particular patient in the physician’s exam room.

Doctoring is a personal calling, built on personal relationships. Even statistical outliers deserve health care that works for them, and suffering can never be understood or mitigated without first seeking knowledge of the suffering person’s own fears and beliefs.

Eric Cassell writes:

“The doctor-patient relationship is the vehicle through which the relief of suffering is achieved. One cannot avoid ’becoming involved’ with the patient and at the same time effectively deal with suffering.”

How many doctors are comfortable getting that involved? And how many health care organizations see that as the role of their physicians?

Twenty Questions

Published December 7, 2013 Progress Notes 6 Comments

Adrian Bell didn’t look dehydrated, but his diarrhea had come and gone for a week and a half when I saw him a few weeks ago.

“Is anyone else sick with the same thing?” I asked, beginning my usual line of questioning.

“No”, answered Eleanor, his wife.

“Have you had any water to drink from a new or unknown source, or have you traveled away from home?”

“No”, both answered in unison.

“Any new foods that only you ate or that you don’t normally eat? Are you a big milk drinker?” I added, thinking about secondary lactose intolerance.

Still, negative answers.

“Any chills, fever, belly pain…” my questioning continued.

Nothing.

“Have you had any antibiotics prescribed by any other doctor?” I asked, because we have had a flurry of Clostridium Difficile infections in our community, which is something we didn’t have to worry about years ago. We had three cases recently at the nursing home, where Eleanor volunteers.

Still, “no”.

“Anything else going on, even if it seems unrelated?” I finished my questioning as I motioned for Adrian to get up on the exam table.

“I have had some joint pains”, he answered.

After an unremarkable physical exam, I ordered some lab tests, including inflammatory markers, a stool culture and C. Difficile test. I gave dietary instructions and we set up a follow-up appointment for a few days later.

At his follow-up visit, everything was the same and all the tests were normal. I sighed internally.

“Do you think it may be Beaver Fever?” Adrian and Eleanor both leaned towards me. “We’ve heard of an awful lot of people downstate who’ve had that.”

“I haven’t seen a case of giardiasis around here in years. How do you think you may have gotten that?”

“Well, two weeks before this started, I fell in a beaver pond in the woods in back of our property. I was checking out an old four wheeler trail….”

“Fell in a beaver pond…” I kicked myself for not having ordered a test for ova and parasites, but, of course, they can be unreliable.

“I think we’ve got to put you on some medication and do another stool test”, I said, thinking to myself that I now have one more question for future diarrhea assessments.

Medicine is like twenty questions sometimes. If you don’t ask the right questions, you don’t get the right answers.

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