Roxanne's Story

This story is about an adult with PKU who was late-diagnosed, placed on diet for several years, then removed from the diet. In her thirty's, she developed multiple serious problems. She was subsequently placed on diet with great success and many positive benefits.

Our daughter, Roxanne, was born on October 8, 1954. She had a normal birth at St. Raphael Hospital in New Haven, Connecticut. Roxanne appeared healthy and was a very good baby. It wasn't until the second and third month that we began to observe problems. She had digestive upsets (vomiting of formula, cramping in her stomach, constipation and gas). Her skin was a constant problem, with redness and rashes on her face, forearms and eczema of the scalp; the more I bathed her, the worse it became. She was very fair, with blonde hair and light blue eyes. We brought these things to the attention of one pediatrician after another. We even took her to a dermatologist for the skin. No one seemed to feel Roxanne had a serious medical condition.

Roxanne developed with "borderline" progress: she sat up at six months, crawled at nine months, stoop up at twelve months, walked at sixteen months. She also spoke a few sounds at sixteen months, but as time passed, she did not speak. At approximately two years of age, she became hyperactive. She was more interested in objects than people and had poor eye contact. Also, Roxanne did not require much sleep. On the positive side, she did love music, picture books and puzzles, and having stories read to her. She liked to ride her rocking horse and play on her swing set. Roxanne toilet-trained early, had all her teeth early and ate with a spoon quite well.

Although she appeared well nourished and quite attractive, we continued to be concerned, out of sheer parental instinct, that Roxanne had a medical problem. We were able to convince our doctor to set up an appointment at Boston Children's Hospital in Massachusetts for an evaluation. Roxanne was two and a half years old at the time. Professionals at the hospital at first thought she had autism. Her EEG was normal. Afterwards, we suggested testing for PKU because of a relative with the disease. Her PKU was thus diagnosed. The medical team decided it was too late to place her on the low phenylalanine diet, however. We were devastated by this decision. To make matters worse, the doctors wrote a prescription for Dilantin, an anti-seizure drug. Roxanne had never had a seizure and since her EEG was normal, we were reluctant to put her on the medication. Apparently, when she was restrained in her crib at the hospital (because she could climb out), she had muscle spasms when she became sick with a cold. After three days, we decided to bring her home.

Meanwhile, we read an article in Look magazine about a M.D. in California who put his young daughter on the low protein diet at 2 years. We contacted our pediatrician, who was unable to help us. However, another family pediatrician, Dr. Randolph of Danbury, CT, who what connected with Yale-Children's clinic, was able to see Roxanne and set-up an appointment for us with a Dr. Horst Bickel, who just happened to be at Yale University for 10 days. Dr. Bickel, from Germany, developed the first formula for treatment of PKU in the 1950's. He was dedicated enough to see her. He was impressed with her behavior, and recommended placing Roxanne on the full diet. He was also compassionate enough to give us a full hour of his time and set up Roxanne on the formula through Yale, New Haven clinic. He felt she may gain 15 points in I.Q. by remaining on the diet, and be able to live at home.

Yale New Haven Hospital followed Roxanne's diet from age 3 1/2 through eight years on a monthly basis. Since Connecticut did not have the lab facilities for testing the phe levels, they sent Roxanne's blood out to California for the results. We also purchased our Lofenalac formula through Yale. It was very expensive, at $35 per can. Later, the state of Connecticut assisted us and we paid only $7 per can. At that time, it was a very difficult diet because there were none of the products available then that there are today. Practically everything had to be prepared at home, using Lofenalac in the recipes. In addition, Roxanne did not like the taste of the food we prepared, since by this age she already had the taste for regular food. We as a family found it very difficult to eat meat in front of her. We also had a young son who did not have PKU and required a high protein diet for treatment of anemia. Despite these obstacles, we managed to conform to the diet for Roxy well.

It was evident that the special diet was helping Roxy, as she became calmer, happier and more interested in people. She loved her brother and liked to play with him. She loved going to church, riding in a car, the amusement parks and Mickey Mouse programs on TV Consequently, she was able to attend a nursery class at age 5 1/2. At age 7, she began attending a special education class in Oxford Center School in 1961. She was one of the first children with PKU who had not been on a diet from birth to attend a regular school. She liked school and had no problems being separated from us. Yale continued to monitor her diet for one more year, and observed her performance in class. But they felt she no longer would benefit from the diet and took her off.

Meanwhile, my husband and I started working with legislators and our state Health Department to pass a law in Connecticut that would make it mandatory to test all newborn infants for this disease. This medical legal milestone would follow the pattern of California, New York, and other states and countries all over the world that had already passed such a law. Our former Governor Ribicoff, who then was secretary of Health, Education and Welfare, was very instrumental in helping us to get the bill signed into law in 1965 by then Governor John Dempsey. It was a glorious feeling to know other children would be spared this terrible permanent handicap of mental retardation.

Roxanne continued in special education class until she was 18 years old. Although she received speech/language therapy during this time, she remained non-verbal. But she does have very good auditory comprehension. We had begun to prepare for Roxanne's future by joining George Hegyi Training Center in Derby, Connecticut. It is a sheltered workshop for the handicapped. Roxanne's father was on the original building committee of this organization, also know as VARCA (Valley Association for Retarded Children and Adults). At age 19, Roxy began job training there. Approximately 6 months later, she began working piecework jobs (simple packing mostly). We continued to assist her with trying to eat a lower protein diet, but without the formula, we could not eliminate protein altogether.

Before this time, we were thrilled to have a new baby sister for Roxy and her brother, who did not have PKU. Roxy loved helping with her care and was kind and gentle with her. They in return both cared for Roxy deeply, especially her brother, who was very protective of her. By the time her younger sister was 3 years old, there was a need for me to go back to work, having stayed home while the children were young. Roxy was working a full day at this time. We had to start saving for the education tuition of our children. Roxanne seemed to adjust to this change.

Between ages 20 and 30, Roxy remained fairly stable. At age 20, she was experiencing a great problem with allergies, including pollen dust, cats, mold, grass and she was beginning to complain of severe sinus headaches. Our M.D. prescribed a variety of antihistamines. During this period, she enjoyed socializing with family, relatives and friends, went to dances at VARCA and continued to like swimming (her favorite sport since childhood). Between ages 30 and 40, we began to notice regression in certain areas of behavior and in her intellectual functioning and developed many frustrations that she had not previously experienced. The only thing that seemed to relax her was her music and her rocking chair. She complained of constant stomach aches and headaches, and began to yell and flap her hands, at the least little change in her routine. She was easily annoyed and became very irritable and anxious. It was necessary for us to have a doctor prescribe tranquilizers for anxiety.

At this time, we were taking care of another female retarded adult whose name was Mary Martha. Both of her parents were deceased. The only close living relative was my husband; consequently, we took on the responsibility. Roxy and Mary attended the same workshop. Roxy took her lunch and Mary bought hers at the cafeteria. Because there was jealously between the two women over their diets, I finally gave in and let them have the same food. During this eight-year period, Roxanne ate regular food and had an ample protein intake. The results were disastrous. Roxanne gained about 20 pounds and became very lethargic, and refused to attend work. At approximately age 38, we were attempting to return Roxanne to her medical formula diet because she had become very difficult to relate to. She was obviously very unhappy. We did not get much support from anyone in Connecticut for the return to diet. So we turned to Roxy's sister, who is an anesthetist in Los Angeles, California.

She convinced us to contact Dr. Richard Koch at LA Children's Hospital. He was very understanding and put our daughter Joan in touch with Barbara E. Dolan, a Nurse Counselor for Genetics at Redwood Coast Regional Center in Ukiah, California. She was very sympathetic with how sick Roxy was, and was supportive in sending us the information and guidelines on how to gradually return Roxy to the formula and diet and how to take her off tranquilizers. We asked Roxy's local M.D. to order a phe and tyrosine blood level. The results were unbelievable. Her phe was 34 mg/dl and tyrosine was 2 mg/Dl. It was amazing to us hat she was able to function at all with a phe level so high.

Our doctor set up a referral with Yale Clinic. We can't say they were promoting the return to diet for adults at that time, but they did accommodate our request. The nutritionist was very helpful and supportive. Roxy had no problems returning to the diet. She drinks XP Maxamum, 45 gm per day. We feel she is so much better. It was a great relief to her mind and body to have low phe levels again. All the shaking frustrations and crying have disappeared. As far as we are concerned, Roxy wants to be on the diet by all indications, and will stay on the diet for life. We remain concerned about the many adults who have not received the information or support to return to the diet. We continue to work with our group in Connecticut. Roxanne was also with Governor Rowland when he signed the last bill for food and formula coverage for adults in August 1997.

We thought it was very important for the younger generation to observe what happens when you are not on the diet. We have been very lucky to have the support of family, who have always been fantastic, Roxy's half-sister Sandy and husband Bob are great, and Joan's husband, Bruce, has a wonderful rapport with Roxy. All of our relatives--aunts, uncles and cousins--have always treated Roxy with respect and love. We have many wonderful friends we have met as a result of our PKU encounters. We write this lengthy letter in the hopes that we can be of some help to other families who are out there struggling with the diet.