Children Who Never Grew

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.

2 Responses to “Children Who Never Grew”

  1. 1 Evi Adams (@lactmama) January 6, 2014 at 7:48 am

    Thank you for this story. You blog is much appreciated.

  2. 2 A. H. Wright January 24, 2014 at 11:05 pm


Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

Enter your email address to subscribe to this blog and receive notifications of new posts by email.

Bookmark and Share


contact @

RSS A Country Doctor Reads:

  • Fish Oil May Have More Benefits for the Inuit than for Westerners
    I have heard many people advocate eating local foods, and avoiding things from far away. Human metabolism, some say, isn’t the same everywhere. Now there is new evidence that whale blubber may be better for the Inuit than for westerners. In the 1970s, Danish researchers studying Inuit metabolism proposed that omega-3 fatty acids found in […]
  • Value Based Care: Whose Values?
    The Journal of the American Medical Association is taking a stand for elderly and disabled patients in today’s online issue: “As Medicare moves to implement value-based payment initiatives tied only to current quality measures, the values of large populations of disabled and frail persons, whose care is the most costly and most concentrated in Medicare, […] […]
  • The Call Within the Call
    “We all go into professions for many reasons: money, status, security. But some people have experiences that turn a career into a calling. These experiences quiet the self. All that matters is living up to the standard of excellence inherent in their craft.” These words by The New York Times columnist David Brooks, in a […]
  • A Crazy Old-School Physician
    A post by Suneel Dhand on KevinMD asks the question who is crazy – the elderly physician who knows his patient’s history by heart, or today’s young doctors, who know the computer better than their patients: Then there’s the reality that his generation represents exactly what a personal physician should be. A solid physician with […]
© A Country Doctor Writes 2008-2015. Unauthorized use and/or duplication of this material without express and written permission is strictly prohibited. Excerpts and links may be used, provided that full and clear credit is given.