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By Francis Polansky, Irving, TX
My daughter with PKU, Catherine Ann, age 53, is profoundly retarded. She has a measured I.Q. of less than 20. She has lived at the Denton State School in Texas since she was 16. Cathy was 11 years old before her PKU was diagnosed, after all those years of our frustration and heartache. The low protein diet we started for her at that time was stopped after a year, on the advice of her pediatrician. He said that the damage to her brain was irreparable. We were devastated. It was 1956.
Cathy’s development was very delayed. For example, she did not walk until she was 27 months old. Eczema and erratic aggressive behavior made her life miserable. She would pace in one corner of a room, never interacting with her peers. She would butt her head against a wall and pull her hair out daily. After we placed her in the Denton School, managing her constant agitation was a great challenge for her caretakers.
In 1982, the Denton School started a one-year diet trial with 7 PKU residents. Cathy’s eczema improved, but the project proved to be impossible due to limitations in a state institution where 32 residents had only 2 caretakers. So large doses of psychotropic medications were necessary for her behavior management. With great disappointment, I tried to resign myself to the fact that nothing further could be done to help her. Her father died in 1980. I continued our bimonthly visits, bringing her treats and going to lunch at McDonald’s. But her behavior was so bad I often cried my way home after a visit.
In 1994, Cathy moved into a renovated dormitory made into a homelike apartment. Cathy’s home had just 7 other residents, a great improvement. Her management plans included behavior modification and self-help skills. Then, during winter 1997-98, I read my first issue of National PKU News. My niece, Jennifer Martinec, has a 14 year-old early treated daughter. She passed on her Winter 1997 newsletter to me. I became very excited reading about research related to older persons with PKU and the benefits of diet. I was filled with hope that a full PKU diet might help Cathy. Armed with information sent to me by Barbara Dolan, RN at the Regional Center (Ukiah, CA) about diet for adults, and with the additional support of Carolyn Scuggs at the Texas State Health Deptartment and Lois Castiglioni, nutritionist at the PKU clinic in Galveston, I tried to educate the staff at Denton School about PKU and the possibility of diet for controlling Cathy’s behavior. With my persistent pleas, the full PKU diet was started in April 1998.
Cathy’s phe level quickly dropped from 17 to 10 mg/dl. She accepted her diet and drank the formula remarkably well (even smacking her lips in enjoyment over the formula, Phenex 2). She loved the special low protein bread that I baked and delivered every two weeks and the fresh fruit I brought. (The school now purchases supplies and bakes her bread.) It was not easy to train the staff to care for Cathy’s diet, but crises were met and routinely handled well.
After just 6 weeks on the diet when her phe level first reached 5.3 mg/dl, the staff started noting behavior changes. Cathy continued to have excellent control on the diet and within months her behavior began to change dramatically. For example, in February 1998, she had an off-diet baseline of 366 "hand-mouthing" incidents. By the end of April, this fell to 140. By late June the staff documented just 28. At her psychological/medical review in May, the staff reported a 50% decrease in self-injury behavior. She also stopped pulling her hair.
Her hair darkened from blonde to brunette after 6 months (due to the lower phe levels and greater melanin production). Her sleep patterns also improved significantly. Doctors have been able to greatly decrease her psychotropic medications and may eventually eliminate them. She even smiles and chuckles on occasion now (something totally unknown before)! Still, her eczema remained a problem. Finally, we started biotin at the suggestion of Dr. Koch, and her eczema is greatly improved. Her seizures still continue occasionally.
I want to commend the staff at Denton School for the wonderful job they are doing. And as Cathy’s mother, I cannot begin to express the feelings I have when I see Cathy smiling and satisfied. What joy when I first heard her laugh! I hope and pray this will continue. I am truly happy to share her story and hope other late-diagnosed adults will benefit from going on the diet.