WE LIVE WITH PKU-by Nell Hunter
I really can’t say we were delighted to discover a baby was on the way. After all, we had a busy life; both of us held strenuous jobs and had an active social life.
So I was pregnant—and that was that. Things proceeded according to the prescribed course. There was a little nausea in the morning, but not enough to be troublesome; also a little sympathetic nausea which my husband experienced. However, there were no worries. Except in my deep subconscious there was the gnawing fact I was thirty years old and my husband was in his mid 40’s. Oh, I heard the tales, alright; “older” couples stood a better chance of bringing forth Mongoloid or children such other inadequacies. However, this fear was pushed far back in my mind as I went about the business of resigning from my job, being a full-time wife, keeping up with the social life, and somewhere along the way battling a slight case of the mumps and a tremendous case of craving cheeseburgers at midnight and raw oysters anytime I can get them.
Finally, after one false alarm the momentous day arrived. Such a lovely day – even in the scalding heat of August. Such a lovely hospital – beautiful nurses –glorious doctors – divine shots! What other outlandish adjectives can you use when you have been told you have a daughter, your dearest wish come true, and a perfect baby at that. Happiness swelled in waves, overwhelmed us, and the tears followed as my husband and I realized we actually had a beautiful baby girl. Why not? After all, we each had two boys by former marriages and this little girl was what all of us prayed for. (To be honest, I might say that the boys were hoping for someone to take over the household dishwashing chores.)
Of course, she was wrinkled, red and baled, but she was beautiful. What a thrill to nurse her – she was only a breast fed baby. And, oh the time I spent grazing through the nursery window at her! No doubt about it –she was beautiful.
At home, things proceeded smoothly. Colleen was a wonderful baby. She loved her cereal, vitamins and bath. In fact, everything moved along quite nicely until she was three months when she broke out with a red rash on her face and little bald head. Our beloved family doctor suggested we eliminate egg yolks from her diet and substitute soy bean for homogenized milk. No results. We tried fresh goat’s milk, still no results.
Then there were other problems. At six months, she couldn’t pick up objects; at eight months, she finally began to sit up shakily without propping; at twelve months she still wasn’t crawling. Friends teased us with, “Oh she doesn’t HAVE to do those things; she has four big brothers to take care of her needs.” Tacky
I couldn’t ignore this thinking; after all, they boys adored her and vied for her attention: “Hey look at me,” said one trying to stand on his head; Hey, look at me,” said another making funny faces. And, I must say she was appreciative, smiling at all equally. However, it just didn’t feel right – babies are generally eager to learn and display their accomplishments for the admiration of such a large audience.
At least, I could bear the suspense no longer. I took Colleen to a pediatrician in a nearby town (there were no specialists in our small town). After a thorough examination, he said he would announce the results on our next visit, a week later, and requested that I bring a specimen of Colleen’s urine at that time. (A specimen from a 14 month old baby?) He provided me with a “catcher”, as he called it.
On our next visit, Dr. “B” said the tests showed no abnormalities and asked for the specimen. Miracles of miracles!! We were able to use the “catcher” and had a small sample to present. A quick test with a little piece of paper dipped in the urine, the grave look, the quick recovery and then a scheduled visit for my husband and I! P.K.U? What is that? Never mind , we’ll find out a week from today.
With misgivings, we entered the doctor’s office a week later. First a few minutes of “small” talk and then down to business. “Colleen has a disease named Phenylketonuria – P.K.U. for short. It is an inherited disease and both parents must be carriers of the disease.. It is also a rare disease - - only one baby out of 20,000 has it. Colleen body is unable to tolerate an amino acid found in natural protein foods. The name of the amino acid is phenylalanine. Since Colleen’s body refuses to use the phenylalanine, it soon collects in her system. As this collection continues, it begins to attack the brain and development is arrested. The result is severe mental retardation.
The doctor presented the entire diagnoses in layman’s term so we could absorb what he had to say; so we can understand the enormity of the task ahead. In addition to the fact that the disease was rare, it was also relatively new in discovery. There were few case histories for guidance. However, from the information available Colleen didn’t stand much of a chance of being a normal child. She was 18 months old when the disease was detected. To develop normally, a child with PKU should be put on a phenylalanine-free diet by the time he/she is 3 months old. This is the ideal age, but positively the child should be “on the diet” before it’s a year old. The diet eliminates all the high protein foods, milk, cheese, eggs, nuts, meat, poultry, seafood, grains. Eighteen months old? Impossible!
Dr. “B” was so kind to us, so sympathetic, not encouraging, but at the same time hopeful. He suggested we take a specimen to the children’s hospital in Houston to make doubly sure of the diagnoses. He made a date for me to see the hospital dietician so I would know what Colleen could have to eat. Special diet! Special liquid formula to take place of milk!
The specimen was delivered to Texas Children’s hospital within a few days of talking to Dr. “B”. Dale was in New York on business so I felt very alone. As I waited at home with Colleen for the results of the test, I knew but, oh how I hoped. Finally that same day, Dr. “B” called me with the results - - unquestionably positive.
When I told the doctor Dale was out of town, he seemed very upset and apologized for having to deliver such bad news with I was alone. I guess that’s when the realization really hit me. I hung up the phone and tears began to flow. I immediately called my mother, who lives in our small town and sobbed out my story. She was at first surprised by my reaction, thinking I had already accepted the truth, and then recovered quickly to console me. Our next thought was how to tell my father who just two years before had an almost fatal heart attack. The doctors had warned us that Dad must be fully prepared before he was told anything which might be a shock to him. I retreated and left this problem to my diplomatic mother. As it turned our, our concern for him was unfounded, for he had felt for some time that there was something drastically wrong with Colleen and had prepared himself for whatever might develop.
When I spoke with Dale by phone that night, I had composed myself somewhat and presented the facts. He accepted the situation much better than I but said he felt as if someone had knocked the wind out of him. I lay awake most of the night thinking, praying wondering what Dale was thinking and feeling so far away from home.
During that long night I resolved that somehow Colleen must not be retarded. I had visions of exercising her legs, holding her upright and manipulating her feet until she understood what to do. I could picture her as a high school student going out with the “gang” for a hamburger and malt. What would Colleen do? Hamburgers and malts were forbidden to her. So was ice cream. Also hot dogs.
When I told me wonderfully wise husband of my hopes and fears and dreams a few days later, he quickly brought me back to reality. He simply said “Honey, let’s just love Colleen. Let’s enjoy her for whatever she is and whatever she will be”
Our prayers soared aloft constantly, along with those of our friends and friends of our friends and relatives. People we hardly knew told us they had heard about Colleen and were praying that she would be alright.
Then slowly, slowly she began to get to her feet. The first time she did this was on a Sunday and by Monday she was a jack-in-a-box. On Tuesday morning, our four-a-day-a-week maid came in while the family was at breakfast. As was her custom, she rushed to Colleen’s room to see how she was. (Alberta always contended that there was nothing wrong with Colleen). Everyone around the breakfast table (six of us to be exact) smiled knowingly to each other – knowing something Alberta didn’t know. Suddenly the shriek we all expected, the shuffling of feet down the hall and the “Oh, Mrs. Hunter, it’s Colleen. She’s standing up!! Oh, Lawdy!” We had saved the surprise for Alberta to discover.
So it began. At 22 months, Colleen was walking. Before we got through congratulating ourselves on this accomplishment, she was climbing the stairs to the second floor of the house – much to our horror. A gate was installed across the bottom of the stairs and she learned in a wink how to unfasten the latch. Before we knew it, she was running upstairs and walking down backwards. (Her father almost had a heart-attack when he saw THIS!) Our little P.K.U. baby was on her way.
We’ve had our set-backs. I once got too confident and began giving her potato chips (which she loves). After a few weeks of a bag of potato chips daily, her phenylalanine rose sharply - - enough to make her actions slow and unsteady. We went back to the strict diet and she straightened out immediately.
At three years old, she wasn’t talking and had the coordination and understanding of an 18 month old child. We began speech therapy and in four months she was tested again. She checked out on a 3 year level.
Now I won’t say that her speech is all that it should be, but she’s trying and becomes very upset when the members of the family don’t understand what she’s trying – that’s the important thing. She’s animated - - into mischief constantly—wanting to help wash the dishes, sweep the floor, make the bed—sometimes too much “help” that she gets sent to her room for being a snoop or a pest. (She must not go undisciplined.)
Some P.K.U. children are able to go off “the diet” when they are 4.5 years old. Colleen will soon be four years old and we recently tried expanding her diet. In addition to the regular cereal and formula she receives at breakfast, we tried adding a piece of crisp bacon and a piece of toast with butter and jelly. For lunch we added protein in some form –a little egg or meat—in addition to her regular serving of vegetable, fruit and formula. After three weeks of this, her phenylalanine count shot up, she became very vague and we discontinued the experiment.
Perhaps she will always be on “the diet” Who knows. Her story is not finished. We just plan to continue to enjoy and love her and help her live with PKU.
