Genetic Drift

Erin, Before I Knew Her

Robert W. Marion*The Center for Congenital Disorders, Department of Pediatrics, Albert Einstein College of Medicine/MontefioreMedical Center, Bronx, New York

As clinical geneticists, we rarely get to see our pa-tients in their natural environment. Working in theartificial climate of the clinic of a large medical center,we are invited to interface with the child and its familyonly tangentially; we are called in during times of crisisto find out what’s wrong. Because of these circum-stances and because of the terrible clinical nature ofthe diseases we diagnose, it is easy for us to lose sightof the humanity of our patients. We sometimes forgetthat, despite their profound problems, the patients weevaluate are children, sons and daughters of parentswho love them unconditionally. But occasionally, dur-ing moments that are all too rare, we may be offered aglimpse of the patient that is different from the one wehave fixed in our mind, a picture that gives us newinsight into the real world of the child and the family.Such an instance occurred recently when my patient,Erin Wood, now 19 years old, came for her regular fol-low-up appointment.

When we first met, Erin was 13 years old. Her fatherhad been transferred to the New York metropolitanarea and the family, composed of Erin, her parents, andher older brother, had relocated from the suburb ofDetroit where they’d lived since well before Erin’sbirth. In trying to find a new health care provider forher daughter, Mrs. Wood had called Garwood Chil-dren’s Hospital to find out if any of the doctors on staffeven knew what Sanfilippo syndrome, type B was. Theclerk in the outpatient department had scheduled anappointment for the girl to see me the following week.

I distinctly remember that first visit. When I calledthem into my office, Erin, crouched slightly and hold-ing onto her mother for support, plodded along clumsilyfrom the waiting area, her gait wide-based and unsure,like a bear stumbling around after awakening from hi-bernation. During the brief journey from the waitingarea into the office and during the entire time I tookthe history from her mother, Erin kept her large headdown, her chin resting heavily on her chest, as if shedidn’t possess the strength to support its weight. At notime did Erin say a word, utter a sound, or make anyeffort to communicate with either her mother or me.Although she was smaller than would be expected for a

girl of her age, the acne dotting her face told me thatshe had entered puberty, a fact that Mrs. Wood soonconfirmed.

In my office, Mrs. Wood unraveled the outline of thestory that was her daughter’s life. Apparently normalat birth, Erin’s development had slowed during her sec-ond year of life. Although the family had brought theirconcerns about their daughter’s lagging developmentto their pediatrician, he repeatedly reassured themthat Erin was fine, that these so-called problems werenormal aspects of early childhood development, andthat he was certain that their concerns would fade intoa memory as the months went by.

But as time passed, rather than being reassured bytheir pediatrician’s words, the Woods’ concern abouttheir daughter increased. Finally, when Erin was 4years old, the family’s fears were confirmed. One morn-ing, the girl developed a high fever. Finding that theirregular pediatrician was on vacation, the motherbrought Erin to see the physician who was covering.That physician took one look at the little girl, sighed,and began questioning Mrs. Wood about her daughter’sdevelopment. “She knew right away,” Mrs. Woodtold me.

In addition to a prescription for Amoxacillin to treatthe ear infection that had been causing the fever, Mrs.Wood was given an appointment to see a geneticist.Once that referral was made, the remainder of thestory passed lightning fast: the tests ordered by thegeneticist showed that Erin’s urine contained massiveamounts of heparan sulfate; an assay of a blood sampleshowed a marked deficiency of the enzyme N-acetyla-glucosaminidase in the girl’s white blood cells. Lessthan 2 weeks after their first visit to his office, thegeneticist told the couple that their daughter had acondition called Sanfilippo syndrome. Unfortunately, itwas also his job to explain to them precisely whatErin’s future would likely hold.

And sitting in my office, sadly, Mrs. Wood told methat nearly all of the predictions made by the geneticistthat day had come true. Now, at the age of 13, Erin was“locked in,” existing but able to do little else. She ateand drank when food and water were placed near hermouth; she wet and soiled her diapers regularly; theyear before, she had begun menstruating and now hada period every month. But Erin had lost the use of themost important part of her brain, the portion of hercerebral cortex that controlled higher intellectual func-tion, the part of her nervous system that made her a

*Correspondence to: Robert Marion, M.D., MontefioreMedical Center, 111 East 210th Street, Bronx, NY 10467.E-mail: rwmarion@aol.com

Received 2 June 1999; Accepted 24 September 1999

American Journal of Medical Genetics 90:95–97 (2000)

© 2000 Wiley-Liss, Inc.

functioning human. And having lost the use of theseimportant neurons to this terrible disease, there wouldbe no way that I or anyone else would ever be able torestore this function.

My physical examination of Erin pretty much con-firmed all this. As I made my way through the exam,checking her from top to bottom, the girl made no sig-nal to me that she was present in the room. She spokeno words, nor did she make an attempt to grunt; shedidn’t gesture or point or make any eye contact. Allthrough the time I spent with her, I had the sense thatI was examining a manikin.

But except for this lack of ability to interact, Erinseemed to be in good health. Toward the end of thatfirst visit, I outlined a plan of management for Mrs.Wood: I scheduled appointments for Erin to see thecardiologist, ophthalmologist, and physiatrist for base-line evaluations. I made sure the family had all theequipment they needed to care for Erin. We also talkedabout how the family was functioning; although Mrs.Wood told me they were all “fine,” I could tell from herwords and see in her eyes that she, at least, was de-pressed. When I suggested that she might benefit fromtalking with one of Garwood’s psychologists who wasvery experienced in caring for families of children withchronic diseases, she jumped at the opportunity. Fi-nally, I scheduled an appointment for Erin to comeback to see me after all of this was completed. I knewthere was little I would be able to do to help Erin; I wasmore concerned about Mrs. Wood and the rest of herfamily.

As the years passed, Erin and her mother came to seeme every 6 months. I would spend the first part of eachsession talking with Mrs. Wood about Erin’s recenthealth issues, and then I’d do a quick physical exam.The bulk of the visit would be spent talking about howthe family was functioning and how they planned tocope with the future and the inevitable end of Erin’slife.

Through the 6 years since the Woods’ first visit, Erinhas remained healthy, but there has been an undeni-able steady deterioration in her functioning. Last year,she came to her visit in a wheelchair. “At home, shewalks most of the time,” Mrs. Wood explained. “Weonly use the chair when she has to walk long dis-tances.” However, since that visit Erin has become de-pendent on the wheelchair; it is now her only means oftransport.

She is also no longer able to hold up her head; Erinmust now be positioned in her wheelchair using spe-cially designed straps and belts. She has trouble han-dling her secretions and drools excessively, causing theskin around her mouth to break down and become in-fected. And feeding her has become a difficult task; lesswilling now to chew and swallow solid foods on herown, the family has, at times, needed to resort to theuse of a feeding tube, passed through the girl’s noseand passed into her stomach, in order to provide herwith enough calories to maintain weight and health.

Through all these years, the Woods steadfastly re-mained committed to caring for Erin at home. Eventhough her care is so difficult and the rewards appearto be so meager, the couple will not even consider plac-

ing their daughter in a chronic care facility. “She’s ourburden,” Mrs. Wood has told me when I’ve brought thetopic up during the girl’s visits to Garwood. “Erin is oneof our children. She’s our responsibility, and we’ll doeverything we can to make her comfortable. Erin willstay at home with us until the end.”

From the Erin Wood that I’ve come to know over thepast 6 years, her mother’s position seems difficult tounderstand. I mean, spending virtually all of her timechanging diapers, lugging nearly 100 pounds of essen-tially dead weight from bed to wheelchair and backagain, forcing food down an unresponsive gullet, bath-ing skin made sore and irritated by perpetual drooling,caring for a person who has seemingly ceased to be aperson, and getting what appears to be nothing back inreturn, seems like a senseless, pointless way to liveone’s life. But last week, during her most recent visit tomy office, Mrs. Wood told me a story that placed all ofthe years I’ve known the family into a very differentlight.

Last week’s visit was slightly different from most ofthe previous ones. Accompanying me that day was afourth-year medical student who was doing an electivein medical genetics. In an attempt to teach her aboutmy specialty, knowing she might never again see a pa-tient with Sanfilippo syndrome, Mrs. Wood and I spentthe first part of the visit reviewing the story of howErin had been diagnosed. It was after Mrs. Wood haddescribed the long period of denial by both the familyand their pediatrician, the visit with the covering phy-sician, and the two trips to the geneticist’s office thatthat moment of clarity occurred for me. For the benefitof the student, I had Mrs. Wood tell us how she and herhusband had responded to the news that had been de-livered to them by the geneticist. “At first, we wentnumb,” she replied. “By that point, we both knew therewas something wrong with Erin, but we’d hoped andprayed it was nothing terrible. To look at Erin at thattime, you wouldn’t think there was anything wrongwith her. I mean, she looked and acted pretty much likeany other little girl. Sure, she was behind where sheshould have been developmentally, but to look at her,you wouldn’t think she had something that was goingto turn her into the way she is now.”

“So, first you were numb,” I repeated. “Then whathappened?”

“Well, of course, once the news sank in, we started tocry. The doctor gave us a booklet called ‘Your ChildWith Sanfilippo Syndrome.’ I spent the next few dayslooking at that booklet and breaking into tears. Myhusband went to work, he couldn’t stay home, but Icould do nothing else. I couldn’t care for my children, Icouldn’t clean up the house, I couldn’t cook dinner. Iwas just a basket case.”

“How did Erin react?” the medical student asked. Icould see the story had sucked her in, and I was grate-ful she was getting something out of this visit.

Mrs. Wood’s face broke into a smile. “That’s a nicestory,” she said dreamily toward the medical student.“Like I said, although to look at her now, you may notbelieve it, back them, Erin looked and acted prettymuch like a typical 4 year old. She didn’t know exactlywhat was going on with us, but she saw me crying and

96 Marion

she was aware that something was wrong. So about 3or 4 days after we’d been to the geneticist the secondtime, I was sitting on a chair in the living room, soak-ing yet another Kleenex, and she came to me with oneof her old baby bottles filled with milk. Now, Erin hadstopped using a bottle when she was 2. I don’t knowwhere or how she’d found that bottle or how she’d man-aged to get the milk into it, but somehow she had. Shehanded it to me and said “Here, Mommy. For you.’‘What’s this for?’ I asked her. ‘You crying, Mommy,’ shereplied, and in her own way, using the few words she’dmanaged to pick up, she let me know that when she’dbeen little and was crying, I always gave her a bottle ofmilk and that made her feel better. Because I was cry-ing, she had figured that giving me a bottle wouldmake me feel better.

“Of course, her giving me the bottle only made me crymore. I hugged that little girl and cried and we stayedlike that for what seemed like hours. When I finally lether go, Erin just turned and walked out of the livingroom and it was over. That was the only reaction weever got from her.”

The office was silent for a while after Mrs. Woodfinished telling us that story. I don’t know about themedical student, but fighting off tears, I was too chokedup to talk. I had only known Erin more or less in thestate in which she exists today. Before hearing hermother’s story, I could never even imagine her anyother way. Having that story told to me, after 6 years ofknowing this family and following this child was likehaving a light bulb switched on.

What happened during Erin’s recent visit is rare.Most of the time, we’re not granted the insight into ourpatients’ lives that allows us this illumination. Whenthese glimpses occur, they allow us to interpret eventsand actions we have had no tools in the past to under-stand. As a result of the telling of that short anecdote,I finally came to understand why Mrs. Wood continuedto take such exquisite care of Erin, why the family putup with so many disruptions and disturbances, why theWoods would never even consider placing the child in achronic care facility. It was not because of the beingErin was now; it was because of the daughter Erin hadbeen back then, before I knew her.

Genetic Drift 97