Jill Colyer

My story of the heartbreak, trials and hardships experienced, as the mother of the first diagnosed PKU to attend a normal school in, Sydney, Australia.

My daughter Debbie, was born in 1958, according to my doctor she was a perfectly healthy baby, “no worries with her “, I was told. Deb fed well and my regular visits to the then Baby Health Centre confirmed she was a beautiful baby doing all the right things.

Around 6 months I began to worry, Deb was not sitting up. Visit to doctor, I was a panicker, “she is a big baby & will sit up in her own good time!” Then I realised she was not crawling, another visit, another reassurance it was I who had the problem! Now Deb was sitting up, she was now “crawling” in a fashion but she was not walking, she was now 20 months, another visit to the doctor who to pacify my anxiousness had Deb’s legs x-rayed feeling confident all was well !!

Result ---- no problems!!! Started to walk around 26 months. Around 22 months Deb was very disturbed with noise, so much so I could not take her to the shops as this disturbed her greatly and as I was about to have my second child I would leave her with my in-laws while I did the shopping.

Having had our second baby, Deb was brought to see me & the new baby, there was no response to me or the baby. When my husband left with Deb, I cried & cried as now I knew there was a MAJOR PROBLEM!!!! My arrival home was further upset as Deb had a “fit” when I went to get her up from her daily sleep.

Then I realised while feeding the baby, I would ask her to pick something up for me, she didn’t comprehend, and when the baby cried Deb would get down on her hands & knees, put her hand on the floor & hit her head on her hand on the floor repeatedly. Within 2 days of my homecoming, I was back at the doctors saying I thought she was deaf, finally when Deb did not respond to his clicking of fingers he decided to refer me to a Pediatrician. Deb was admitted to The Childrens Hospital where they “ran” all known tests, all of these proved “no problems“. “She will grow out of whatever is holding her back“, we were told by the Pediatrician. We could take her home the next day.

Next morning arriving to take Debbie home, we were met by the Pediatrician who said “last night I read an article in the American Medical Journal re a condition which I don’t think your little girl has, but if you like, we can test her for it“, of course we agreed. We were able to take Deb home but had to collect as much urine as possible in the next 24 hours to be taken out to the pathology department for testing. The Pediatrician rang me the next day telling me my daughter’s test proved positive, “she does have this rare condition“ when asked the name of this condition, he responded, “you wouldn’t know it if I told you”. “I am the child’s mother & need to know “. He said “oh well, it is Phenylketonuria“. “What can be done for her I asked and the reply was SICKENING …

“Nothing, it simply means you have a MENTALLY RETARDED DAUGHTER!!! “There must be something we can do…” “oh well there is a diet but it is much too difficult, you could never manage it, your daughter will end up in an institution, you best to concentrate on the baby“. I replied “if there is a diet, I WILL MANAGE IT!!!! “oh, well if you want to re-admit Debbie we will try to get her started with the diet“. And that is what we did. Deb was re-admitted and was in hospital 4 weeks. During all this time I had no contact with the diet sister even though I was out there every day over the lunch time. The first few days Deb was served a baked dinner then the next day her lunch was 1 ounce RAW potato: ¾ oz RAW pumpkin: ½ oz RAW spinach. Breakfast & Dinner: 4 tablespoons Rice Pablum mixed with ½ small tin Heinz Baby Pears or Apple. This was Deb’s only intake of food: she daily had 40 fluid ozs of Lofenalac which was a formula from which she got the minerals, vitamins & protein her body needed.

The day of Deb’s discharge, the diet sister was very disinterested, rather abrupt, handed me a piece of paper she had written with Deb’s diet. “This is the diet, I know nothing about your daughter’s condition, this is your worry, you just have to do your best.” Having been told by the Pediatrician he would see Deb in 6 months and the diet sister not at all helpful, we took Deb home and did not vary from this diet for the next 6 months, not even for an ice block!

Regular weekly blood tests, then fortnightly, then monthly followed. 3 months on, Deb had a high blood test and knowing she hadn’t eaten any extra or wrong food, I contacted the Pediatrician who was away, but his partner told me to put Deb onto her previous diet. He obviously did not look up Deb’s file and was not interested. I did NOT do as he said!!

6 months on the diet, Deb started to show definite signs of improvement, I was so happy the day we went for her check up with the Pediatrician, we were just going out the door when Deb stopped, ran back to get her Teddy. Teddy that she hadn’t even noticed until now. I told the Pediatrician how pleased I was with Deb’s progress but he immediately replied that was nothing to get excited about, I still had a MENTALLY RETARDED DAUGHTER!!!! I began to dislike this Pediatrician so I told him how disgusted I was for his partner to tell me to put Deb back on her previous diet when she had a high level. His reply “if you have any complaints go home & write me a letter“. At this stage I was devastated… no diet sister & now no Pediatrician!!!!

The next day, we went up to Port Macquarie, a holiday we had booked ahead. When Deb got sick with a tummy upset, we got the local doctor who to our AMAZEMENT had just had a rep. from Mead Johnson telling doctors to be on the look out for this particular condition called Phenylketonuria. We told him of our terrible time we had had with the medicos in Sydney and he strongly suggested we ring Mead Johnson to see if they had a Pediatrician they could recommend. Of course we left the next day, rang as told and we received the help we so desperately needed…a Pediatrician who was genuinely interested, concerned & helpful who referred us to the most wonderful dietitian who enjoyed the challenge of learning as much as she could re this newly known condition which of course helped us considerably!

At last, we were being helped!! It was now I had time to look at the “wider picture”. Deb was the first PKU child on this diet but there would be more. There were no companies supplying low protein foods, no bread, biscuits or cake of any description, so I started communicating with America as they were further ahead. It necessitated to-ing & fro-ing with different companies and it was very confusing with the different measurements and food names which I would discuss at length with my dietitian.

I also made several visits to a local bread making company asking if they could make a loaf out of the ingredients I was able to give them but this didn’t work out.

In 1962 I was very concerned when I read in the evening paper, a small article on say page 57 in the evening news paper re the new discovery of food helping the brain. Then nothing else. This in my opinion should have been HEADLINES!! It was this which prompted me to write to the Minister for Health urging the government to commence screening all newborn babies for this condition pointing out it would be far cheaper for the government to test screen rather than to house many undiagnosed PKU babies over the years in institutions.

This letter was published in the Sydney Morning Herald and Test Screening was commenced in 1963.

In 1968, my husband Clive, with another father of a PKU child we met through my letter, and a medical gentleman with a PKU relative, I have forgotten his name, started The NSW PKU Society which served a purpose for a few years but is now known as The PKU Association of NSW.

Debbie was the first PKU diagnosed in Sydney to attend a normal school. Her academic achievements quite amazing with her “bad start”. She has & still enjoys tennis, swimming, softball and travelling. She has achieved many different qualifications; she is a past President of the PKU Association and has remained on the Committee as the Publicity Officer since 2006. On the camp committee she is an adult co-ordinator: and has served on the committee for over 20 years. She has been made a Life Member of the PKU Association of NSW. In 2012 Debbie was awarded the OAM medal for her services to the Health Community through the PKU Association.

What a wonderful journey Deb & I have shared and no mother could be more proud of their daughter as I am. To know that this “baby“ was destined to live her life in an institution in the eyes of the top medicos of the day and to note what she has achieved makes a wonderful story.

Jill Colyer