Rediscovering the PKU Diet

by Joanne Miller
As presented at The Metabolic Conference in London, Ontario, Canada, May 5, 2006

Note: I would be more than happy even to be contacted by anyone who is thinking that the diet for life is too much trouble. The difference in my sister-in-law, Tracey, since she went on the diet is amazing.

My story is about Tracey, a young girl born almost 40 years ago in Goderich, diagnosed with PKU in London and grew up in Kirkland Lake, or as some call it "The Great White North." She was taken off her diet at a young age and got lost in the system. I hope my story will convince parents and children the importance of PKU diet for life. It is my hope that I can show you all how much damage not following the diet can do to an individual with PKU, how important it is to research and understand every aspect of the disease.

I met Tracey March 27, 1975. She was an adorable tiny 9-year-old girl with curly blond hair and blue eyes. My boyfriend explained to me that his sister was a "PKU" child that she was born without the enzyme to enable her to break down proteins. He went on to explain that if she ate food with protein the protein would build up on the brain and cause brain damage. So for the first 5 years of her life Tracey had to be on a special formula and could not eat any regular foods but once she turned 5, it was thought that her brain was fully developed and she could eat what ever she wanted to. She stopped the diet.

For the next 30 years life went on quite normally; I married my high school sweetheart and Tracey became my sister in law. During that time I didn’t give much thought to PKU. Tracey went to Special Ed classes through out her school years. She was a great swimmer and competed in the Special Olympics both Provincially and Internationally. She won gold medals in all the Provincial meets she went into and also won gold in New York and Baton Rouge. She had a beautiful voice and would sing solos in church but the choir director would not allow Tracey to join the choir, as she could not read.

The problems started around 2000 when Tracey began having severe anxiety attacks. She went from a fairly independent girl to a young woman who wouldn’t stay home alone; even taking a shower became an ordeal, as she wanted someone near by at all times. Both my husband and I thought it was just behavioral and that my in-laws simply needed to be stricter with her. The problem, in our minds seemed to have started after Tracey spent a lot of time with her grandmother who was afraid of everything. It seemed to us that Tracey was merely trying to be like Grandma and that my in laws were being too tolerant of bad behavior.

It wasn’t until October 2003 that I realized how severe and real Tracey’s anxiety was. My mother-in-law was in the hospital in Sudbury at this point in time, so Tracey and her dad traveled to Sudbury, and were staying at our home there. One night I told Tracey that we were going to walk to the hospital to visit her Mom. Tracey and I had gone on many walks together in the past, so this should have been quite a pleasant experience, and I expected it would be; however, shortly after we left the house, Tracey’s anxiety started. I could see true fear in her eyes. I tried to talk to her about things she loved, but all I got were one-word answers. Her eyes seemed to have glazed over, she had her head down, and her arms were flying.

Tracey was in total concentration to get where we were going as fast as she possibly could. We managed to make it to the hospital but the experience left me extremely unsettled. What was happening to my darling sister-in-law? That night I sat with my husband and told him about my concern, and how I felt. It was at this point I decided to find out as much as I could about PKU. I didn’t realize how much this decision would change all our lives.

The first article I read was written by Virginia Schuett, Director and Editor of the National PKU news. She explained PKU to an extent that I had never really understood. In the section Diet Maintenance she explained that at one time it was common for children to be taken off the diet between the ages of 6-10 but that it was now known that stopping the diet could result in a variety of serious problems. She went on to list the different problems, such as a drop in IQ, behavior problems, and personality problems, which included panic attacks and schizophrenia. She also went on to explain that if young adults did not return to their PKU special diets these symptoms would only increase.

The story that hit home the most was Kevin’s Story. The whole plot of the story was the same as Tracey’s: a young boy who stopped his PKU diet at age 8, rode his bike, swam, cross-country skied, played the piano, walked to the mailbox to get the mail, took long walks on the beach. Then all of a sudden at age 38 Kevin began to have problems with anxiety. He wouldn’t walk up stairs, wouldn’t get out of the car without help, wouldn’t leave his bed room, stopped walking on the beach. The mother explained the nightmare that followed. She didn’t know where to turn, wasn’t getting help from the medical profession; meanwhile, Kevin was getting worse. He wouldn’t even get up at night to go to the washroom since leaving his room scared him too much. Finally they found a neurologist who listened to their problems, suspected that Kevin’s very high levels of PHE was the culprit and that getting him back on the PKU diet was the solution. Kevin’s mother explained that once back on the diet his change in behavior was almost immediate. Within weeks of restarting the PKU diet he started walking on the beach again and was a happy and self-confident guy.

Reading these articles both terrified me, and yet gave me hope that finally we could get Tracey back to the happy young person I knew and loved. Did we finally have a solution to our problems? Could it really be as simple as restarting a PKU diet? I printed out quite a few articles and sat down once again with my husband to show him that there was a solution, there were answers to Tracey’s problem and he could now tell his parents the good news.

Our joy, however, was short lived. When we discussed my finding with my in-laws we were confronted with skepticism and doubt. After all, Tracey was being followed by a "behavioral therapist" in Kirkland Lake and really who were we to question her professional diagnosis? This professional’s approach to Tracey’s problem was to tell Tracey that she didn’t have to stay alone until she was ready. This had been going on for years and nothing had changed. We later found out that this behavioral therapist wasn’t really a professional in the behavioral field, but a counselor and that none of the medical professionals working with Tracey in Kirkland Lake knew that Tracey had PKU. Part of me understood my in-laws reluctance; after all, the thought of taking Tracey off all protein and going back to a regimented diet, I am sure, was terrifying and overwhelming for them. It was also a point in Mrs. Miller’s life when she was very sick with complications from type 2 diabetes and she was just not ready to add any further stress into her life. The next time we got together Tracey, in my mind, was getting worse. I tried again to convince my in-laws to at least consider the possibility that Tracey’s problem could be PKU- related. Again I was confronted with skepticism and this time, anger. My mother-in-law told me that this was just "an American belief," not substantiated in Canada. After all, if it were in Canada, would London not have contacted them? She also was quite annoyed that I would question the therapist’s work. After all she was "the best." In her mind I was putting down Kirkland Lake and my in-laws’ parental ability. This was not my intent at all. My concern was 100% Tracey. I kept thinking of Kevin and how much his anxiety had grown; I did not want this for Tracey.

My frustration took me back to the Internet, back to Virginia Schuett. I e-mailed Virginia and begged her for her help. Where could I go in Canada to get the information I needed? How could I convince my in-laws to listen to me? Was I really so wrong for wanting Tracey to get help? Virginia Schuett quickly e-mailed me back and told me whom to contact at Sick Children’s Hospital in Toronto. She also encouraged me to push for help, as she, too, was concerned for Tracey’s well-being. Once I got some Canadian information, we again confronted my in- laws. When Tracey was back in Sudbury for an appointment with an allergist, my husband, son and I decided to take the opportunity to have a form of intervention. After many tears and much discussion, my mother-in-law finally realized that we were not questioning her intelligence, her parental ability or we were not trying to put down her beloved Kirkland Lake. She finally agreed to contact London Victoria Hospital where Tracey was initially diagnosed with PKU. This was in October of 2003. It had taken over a year to finally convince my in-laws that Tracey’s problem may indeed be PKU-related.

Once the phone call was made to London, Tracey was seen within a few weeks. We found out that Tracey PHE levels were over 1300 micromol/L (about 22 mg/dl) and her anxiety was most likely due to the high levels. We met with Suzanne Ratko, a registered dietitian at Children’s Hospital of Western Ontario, and in my mind there is no one on this earth who is more caring. We were advised to take Tracey off all food high in protein: meat, dairy, legumes etc. Since at that point Tracey was not funded and there was really no funding available for adults who needed to go back on the diet; we could not put her on the formula or any of the low PHE foods. For the next year Tracey ate mostly fruit and vegetables. Suzanne was a real blessing during this time. I must have driven her crazy with all my questions, e-mails and concerns, but every time I called she was always eager to help. I don’t know what I would have done without her. In September 2005 Tracey’s levels had dropped to 1095; lower, but still quite high. The concern at this time was that her tyrosine levels were also quite low due to inadequate protein. Suzanne was able to get samples of the formula in order for Tracey to get the nutrition she needed and decided it was time to press the government for funding for Tracey. We had applied in 2004 for funding and Tracey had been turned down but Suzanne was not willing to give up. She asked me to call Michele Sanborne from the Ministry of Health, to explain our situation and to try to get funding.

In early December 2005 I got a call at 6 AM from Suzanne. She was so excited she could hardly speak. Tracey had been approved.

Since that time Tracey has been on a very strict, low protein diet. She takes her formula 5 times a day. She is really quite amazing. She will not eat any foods she is unsure of without checking with someone and will never eat anything after she has been told it is not good for her. Her anxiety is virtually gone. She is a happier, brighter girl and her levels have dropped to well within a very normal range. We bought Tracey a blender and she makes her own formula; she measures the water into a blender and then measures the powder, adds fruit and blends.

At Christmas she came to the gym with me and we went to a step class. The first day Tracey refused to go to the dressing room without me, but the next day while I was chatting with a classmate, Tracey informed me that I was taking too long and she was going to shower and would meet me in the lobby. Another time Tracey was sitting in the dining room coloring when I casually mentioned how beautiful it was outside and that maybe she and Trevor, my son, could go for a walk when he came home. Before I knew it Tracey had her coat on and was out the door going for a walk on her own. What a change! When she comes for a visit she sets herself up in what she calls her "Secret Room." It is a room in our basement where she goes to watch movies. She sits there in complete darkness by herself with her videos on. A year ago she would not have gone into our basement alone with all the lights on.

Until very recently she was on high doses of anti-anxiety medication. Since Christmas she has been cut back to just one tablet a day. Hopefully before long she will be off all these narcotics completely. She still tends to use the excuse "I don’t have to do it until I’m ready" but at this point it is just a normal human way of not doing what she doesn’t want to do.

One day, a few months ago, we were sitting in a Chinese food restaurant. After the meal Tracey took out her fortune from the cookie and read it. I said, "Let me see that." I couldn’t believe what I was hearing. She had read the fortune word for word. Then I passed her my fortune, and she read it too. Tracey had not been able to read before. There is such a difference in her since her PHE levels have dropped. Mrs. Miller died in November, a few weeks before Tracey’s funding went through. She would be so proud of her daughter and the difference the diet has made in so many aspects of Tracey’s life. Since her Mom’s death, Tracey continues to live with her Dad, who will soon be turning 80. He has been amazing and has also taken Tracey’s diet extremely seriously. He is her primary caregiver and cooks all her meals. He is quite receptive to new ideas and always asks me for recipes that he can try. He was telling me a few weeks ago that he can’t believe the change in Tracey, how happy she is, how easy-going she now is, how she would once give him a hard time about a lot of different things but instead goes along with whatever she’s asked to do.

There are many conditions people have which limit either what we can eat or things we must do to stay healthy. I grew up with a sister who was diagnosed at 11 with juvenile diabetes. I really credit my mother for pointing Sue in the right direction. My mom took the condition seriously, and made sure my sister did also. My mom ensured that Sue understood the danger of high blood sugar levels, and the importance of exercise. I look at my sister today; she is extremely healthy. As a child her health was in my parents’ hands. As she grew older, it changed to her own hands, and I am very proud of the way she handles her diet. It is the same with PKU children. Initially it’s the parents’ responsibility, but in the long run it’s up to the individual to want to stay healthy and it is very important to understand the disease as much as possible. I have a rare lung disease; my health does not depend on a diet, but in order to stay alive I must exercise to keep my lungs functioning. Believe me, there are days I would much rather just give up. But I had such a great role model in my sister that I know that’s just not a possibility. There are many people whose lives are challenging.

PKU is like any other disease that when we, through ignorance or error, don’t take diet or exercise seriously, it can be quite terrifying and in some cases deadly but when understood and controlled, can lead to quite normal lives.