Debbie's Story

My Late-Treated Daughter’s Story
By Jill Colyer, Sydney, Australia

My daughter was born in December 1958. That year, I understand that America, England and New Zealand were already testing newborn babies for metabolic disorders including PKU, but sadly not in Australia.

Debbie was our first-born, a beautiful baby with no apparent medical problem. Our first concern was when she was about 15-16 months and not walking. We had the necessary x-rays to check on physical reasons; these indicated all was well. But at two years, she had become quite sick: badly constipated, not happy with noise, screamed when I took her shopping (to the point that I could not take her to the shops) and did not respond in any way to our loving or our commands. It was almost as though she was, at this stage, in a little world of her own. She would rock, and she would hit her head on the floor when really distressed.

(Photo Caption: Debbie delights in caring for her nieces and nephews.)

So when she was just over age two, Debbie was admitted to The Children's Hospital, Camperdown for a series of tests. PKU finally was diagnosed with the urine test. We were told over the telephone that we simply had a mentally retarded child. When I asked what could be done, the reply was "Not much. There is a diet if you could be bothered, but much too difficult to follow, so it would be best if you just concentrated on the other one" (referring to Debbie's sister, then 8 weeks old). At this stage I was outraged with this doctor's attitude and of course replied as any mother would, "Debbie is my baby and I WILL manage her diet!" Because Debbie was the first child diagnosed in Sydney, the doctors had very little knowledge of how to treat a child with PKU and so Debbie suffered the consequences. Following the diagnosis, she was given the following diet, which they did not alter until she was about 4 years old:

• Breakfast:

  2 Tablespoons Rice Pablum (like Farex), mixed with either Heinz Baby Apples/Pears

• Lunch:

  1 oz. Potato, 3/4oz. Pumpkin, 1/2 oz. Spinach all mashed together (this was served to her RAW for the first 2 weeks until they made further inquiries!!)

• Tea:

  Same as Breakfast.

In addition, she had to drink 40 fluid ounces of Lofenalac a day. This required me to pester Debbie all day long to get her to drink this quantity. It really was a nightmare for both of us.

Within 6 months of Debbie being on the diet, we could notice positive and very encouraging changes. A very good example of this: We always put "Teddy" in her cot from the time she was a new baby, but until the age of 2 years 9 months, she didn’t know Teddy existed. By two years 10 months, she wouldn't go anywhere without him!

The encouraging improvements with Debbie also presented many problems. One problem that stands out in my mind was that all food had to be kept out of her reach. But because she was 3 to 4 years of age, not 2 to 3 years of age, she could climb and reach very well and of course could open cupboards more easily. Keeping food out of her reach was a constant problem.

Here is another example of the hardship of the situation. One afternoon we were visiting a neighbor's place when the baker delivered the bread. Debbie, now age 4, together with the neighbor's children, ate a large portion of this loaf. When I realized what had happened, I took her home, gave her a "belting" and put her to bed without any dinner. Debbie was crying, but I was crying LOUDER! I was just very worried, for I knew Debbie could not afford any more  poison" going through her body. It was as if she had eaten straight-out poison!

Then there was the question of school. Would she be accepted at the local public school? We had started her at the local kindergarten when she was 4 years old. Halfway through that year the head teacher at the kindergarten said to me "What are you going to do with Debbie next year? You can't really see her at a normal school can you?"

This really threw me again as I felt she was improving slowly, but definitely, and all we needed was time! We took her to the Education Department for them to assess her. We were extremely happy when they said they would accept her on a trial basis. This made her the first PKU in Sydney, in fact possibly for the whole of Australia, to attend a normal school!

When Debbie started school, I was extremely worried that she might swap her lunch with other children and so every school morning I would take her to school and go into the playground and stay with her until the bell went. I would return again at recess, again at lunchtime and then I would be there when school came out. I thought I was doing the right thing for Deb, but in actual fact this just singled her out amongst her peer group making it hard for her to make friends.

Again when Debbie started at Ravenswood School for Girls in sixth class, we had further problems. (Always when Debbie endured "change" of any description, her behavior would revert back to a state of confusion, and she would really act a little strangely for several days until she had time to settle down and adjust to her new surroundings)

This was no exception. The teachers thought her to be dyslexic. But I convinced them that she would settle down in a short while, so they allowed her to stay, and she remained a pupil at that school until the age of 17 years.

I have thought many times Debbie has had a very difficult placing in our family. She is the eldest. She has 2 sisters and 1 brother. Through the age of 18 - 25 I watched her siblings mature and pass her with their chosen careers, dating etc. But Debbie has never complained. In fact, helping to care for her baby nieces and nephews is her greatest joy.

When Deb was diagnosed with PKU, I decided then and there that if she had to have something wrong with her, she would not be spoilt as well. We have always treated her as an equal to her siblings. We have ignored any possible suggestion of "brain damage" and I believe this attitude has been correct.

I will conclude by saying that we, Debbie's parents, her sisters, brother, and friends all admire her immensely. She has had a long hard road to travel, but she is walking it with strength and determination. She is totally in control of her diet and medication. She has been employed by the same firm for the past 10 years where she now holds a senior position. She is totally involved with local softball clubs both as a player, a coach, and a committee member. Debbie has good reason to be proud of her achievements, and we are certainly very proud of her!

My Experience with PKU
By Debbie Colyer

(Photo caption: Debbie was thrilled to meet Dr. Richard Koch (from Los Angeles Children’s Hospital, internationally known for his longtime work in PKU) and his wife Jean Holt Koch at a 1999 summer meeting of the New South Wales PKU Association meeting.)

During my second year of life my mother took me to the doctor several times, as she was concerned I was not progressing as I should. But all physical check-ups proved OK and it was not until I was admitted to the Children’s Hospital, Camperdown at the age of 2 years and 4 months that I was diagnosed with PKU.

My mother, who was my life-line, tirelessly went to many doctors and read many articles about PKU trying to gain as much information as she could about the diet that I was to follow. She had to do this as the doctors who diagnosed me and the dietitian concerned were not very interested or to put it more kindly, not familiar with the treatment. Without my mother’s loving care and support I would have spent my life in an institution.

School was always a challenge for me. The children used to tease me from my very first days at kindergarten when my mother would come into the playground with me each morning before school, again at playtime, and again at lunchtime so that I would not "swap" my lunch with other children. This made me seem different -- to them I was different -- but the thing they did not understand was that I had feelings like everyone else and their attitude towards me caused me great emotional pain.

The teenage years were even worse as the pressure of not being "one of the group" and not eating the same food as they did, made them decide that I was from "outer space" and "just totally weird". They tended to ignore me and I really did not enjoy school. However I did gain my school certificate and did well in all sports.

I left school at age 17 years and worked voluntarily at a hospital creche where a young dietitian picking up her child told me that it was no longer necessary for me to remain on the diet. She was so convincing, she really got me quite excited. Up until this point I had good diet control but with this news I was so excited with the prospect of eating all foods, I went against my mother's better judgement and remained off the diet for about 15 years. This was the worst decision of my life!

I then started to go downhill. I was tired all the time, suffered headaches, weight gain, memory lapse, I could not think clearly and my skin was bad. My mother at this stage finally convinced me I should make an appointment with Dr. Yu (the head PKU doctor at the Children's Hospital) to "get me back on track."

I have now been back on the diet for 7 years. I feel 100% better, all my adverse symptoms have gone, my confidence is back and I am now a happy and well adjusted adult. I believe I am a stronger person now through my experience with PKU.

Diet control for PKU is so important. I wish that the knowledge that I have today I had had when I was much younger. Then I wouldn't have suffered as much in my impressionable teenage and young adult years.

I believe now that diet is for life -- and we are so fortunate to have a diet to follow, thus giving us the opportunity of a normal life. My PHE levels are good and well within the recommended range, though it is a struggle to keep them there. So that is my story so far. I am very optimistic about my future and know that staying on the diet will keep me well and healthy.