It is nearly impossible to describe a typical person who has PKU. The problem lies in the word typical. Each person with PKU is unique, with unique situations and unique experiences. The very things that make them unique and special are the things that make it so difficult to describe a typical person with PKU. It is their families and friends, their doctors and the other members of their support ‘network’ that make each of them unique. Normal, that hated word, by society’s standards PKU is not normal, but to those who have it, PKU is normal. For most, PKU is the only way of life they’ve ever known.
Having PKU is not easy. That would be an understatement. When it comes right down to it, PKU is a major dietary inconvenience. The diet is based on a certain amount of milligrams of phenylalanine or "phe" allowed per day by an individual affected with PKU, in addition to the supplemental low or free-free formula, or milk. The phe content of food varies greatly, as does the allowed exchanges per person. For example one PKU person may be allowed 12 exchanges daily where another may be allowed 35 or 40 per day. Pure protein foods, such as fish, meat and dairy products contain greater concentration of the phenylalanine. A nickel size piece of pure protein food is equal to five exchanges, therefore not allowed on a low phenylalanine diet. Other foods that most people would not consider containing protein have enough to cause elevated levels of phenylalanine in a PKU person. A cup of low protein pasta equals an exchange, where a tablespoon of regular pasta is one exchange. Wheat and flour products are not allowed on diet as they also contain too many phes. A special baking product is available to bake low protein breads, cookies, cakes, pies and many other things. Even low protein foods must be weighed or measured for optimal diet control. Blood tests must be taken on a regular basis, approximately one per month, to help monitor how a PKU person is doing with diet. This enables a PKU person to increase or decrease their daily exchanges. For years it had been acceptable for people with PKU to discontinue the diet during the teenage years. Recent studies have suggested evidence that the discontinuation of the diet may lead to intellectual problems and mental health problems. It is proven that people with PKU can lead healthy, happy successful lives when a strict low protein diet is maintained.
When considering the diet, it is easy to see why the attitudes of individuals with PKU can change so drastically as they go through life. The diet is an absolutely necessary and time-consuming daily task that cannot be avoided. As children, the diet is a team effort, between the individual with PKU and his or her family. The control of the diet gradually shifts to the shoulders of the individual with PKU, as that individual grows and becomes more independent. During the teenage years, when it is natural for a person to want to attain more freedom and independence, the diet can be a real struggle. There are the exchanges to deal with when out with friends, as well as finding time to drink milk when, often more time is spent on the go than in a place where refrigeration is easy. Schedules of a group have to be made around stops to drink milk, or plans have to be made to take it along. Though none of this is impossible, a teenager can consider it quite a hassle, embarrassing and probably not worth the effort. Although peers tend to be more focused on their own issues and the diet is ‘no big deal’ to anyone, it can be an uncomfortable difference when plans need to be changed to make accommodations for it. This can often bring about feelings of resentment and anger in regards to the PKU diet. As adulthood approaches, it often becomes easier to accept the PKU diet. As you are surrounded by people who are out on their own for the first time you might find that all of the cooking and preparation involved with the PKU diet can indeed help you to be better prepared for the sight of an empty refrigerator and nothing but ingredients, for example baking mix, for dinner.
At any age the food can become boring and redundant. Most people with PKU can relate to the feeling of never wanting to see another salad or piece of fruit. It is a challenge to keep it different and changing. One constant in the diet is the milk. It can be the absolute worst part of the diet or no big deal, depending on the attitude each individual has towards the milk. This can often be based, in part, on the attitudes the parents had about it when the person was young. Yes, the milk has quite a potent aroma, and many people would consider it quite a rotten aroma, but the fact of the matter is there is little way to avoid it and if the parents’ attitude is positive it will help in the long run. It is best to get the child used to the smell of the formula at an early age so that the smell will not be a big issue later. Part of the problem that can be encountered is the changes formula companies make in the powder used to make the milk. When a formula company makes a decision to change the taste of the milk, it takes one of the few elements of control and choice people with PKU have, out of the PKU diet.
In addition to the PKU diet being a challenge, it also proves to be difficult in that there are no standards between states or clinics. One example of this problem is that there are no solid, recognized standards for the treatment of PKU. That means that if the family of a person with PKU moves to another state, or even another area of the state, and switches clinics, the whole philosophy of the treatment of PKU might be different. When a person with PKU is already experiencing mixed feelings about the diet, finding that the attitudes of doctors and nutritionists who treat PKU are completely different than those at your previous clinic, can be extremely difficult. The care people with PKU receive should not depend on the clinic they receive treatment at. They should be able to move from one location to another without the worry that they will have to modify their diet and treatment in order to follow the standards of a new clinic. Another example, of the difficulties associated with PKU, is the way that coverage, of the diet and the foods necessary to maintain the diet, varies from state to state. There is no standard for how the PKU diet and the costs associated with it are covered. Some states have laws saying that insurance companies or Medicaid must pay for a portion of the costs every year. Other states use money from newborn screening to pay for coverage of portions of the costs of the diet, for example, for every citizen, of the state, who has PKU, Wisconsin pays for the costs of the low-protein formula, pasta and flour, which are considered mandatory elements of a successful diet. Members of the PKU community are continually fighting for better laws and standards of coverage of the costs of the diet in their state legislatures. The costs of the diet are very high and so can greatly impact the lives of people with PKU and their families. A parent, of a child with PKU, might be unable to accept a job offer in a different state, if the coverage of the costs, of PKU, is not good enough to make it a financially feasible option. A high school or college graduate would be unable to accept a job without first finding out how the laws concerning the coverage of the PKU diet would affect their budget and standard of living. It might even affect the career that a person might choose. For example, people with PKU are unable to join the military, a common job choice for high school graduates, or they might find it financially difficult to work a construction job that does not provide medical coverage.
Another problem with the way PKU is currently thought of and treated, is the way that PKU is often considered a childhood disorder, with much consideration going to children and teens with PKU. This is now a big issue as adults, who were diagnosed with PKU and taken off diet around six years of age, are beginning to realize that they have PKU and that the current evidence shows diet for life is the best way to stay healthy and productive. Some were taken off the diet so early that they do not remember much about having PKU and the misconception that PKU is a childhood disorder does not help to relate problems of adulthood to PKU. The reality of PKU is that it does not go away when a person turns 18 years old, nor did it go away when children with PKU were taken off diet; it lasts forever. Women who went off diet early and don’t remember it may now be having children with severe birth defects and not realizing the cause.
These aspects of the diet also bring about questions that can "haunt" the PKU population, if they think about them. What will the future hold for us? How will I pay for formula and food when I am on my own? Will the insurance provided by my employer consider PKU a pre-existing condition and deny me coverage? What effect does PKU have on the aging process? What is in store for the future? Will sensitivity to protein change at different periods of aging? Will it decrease with age? Will it stop all together? Are there more serious consequences to consider? No treated, diagnosed PKU person is old enough to tell us that. Continued research is a must. People with PKU deserve to know the answers to these questions. Currently, they face a large question mark when considering their medical future.
One thing that seems to be evident in most cases, of what doctors would call a successful, on-diet individual with PKU, is a tremendous support network. This can be any combination of family, friends, religious groups, doctors, nutritionists, baby-sitters or anyone else that has been giving support to individuals with PKU. This is especially important for women of childbearing age wishing to return to diet in anticipation of pregnancy. With the current computer age, many people have turned to the computer to find others with PKU. Through chat areas, e-mail and the PKU List-Serve, people with PKU and their families are able to share their experiences and advice with each other. People who are successful and on-diet have not necessarily had perfect control throughout their lives, but they have been able to learn from their mistakes and have been able to make the best out of their tough situations. Often it was during a rough time with their diet that these individuals found out how important it was to have people around who were willing to lend support. These are the people who will listen when an individual with PKU needs to yell, rant and rave about their diet. They are the people who will offer sympathy, understanding, and maybe even help, to a hungry and tired person with PKU, when there is nothing low-protein ready to be eaten immediately; a time when the diet can be truly hated.
It is always important to remember that those individuals with PKU are in-fact unique. Although it is important to establish a base standard for the treatment of PKU, we must be willing to remember that each person with PKU is an individual and that their treatment may need adjustments. It must also be remembered that support is key in the treatment of PKU, both medical and emotional, as well as the obvious financial support necessary for compliance to the low-protein diet, an extremely expensive, but also essential component of the treatment of PKU.
*As a 19-year old with classical PKU, and the sister of a 16-year-old brother and 10-year-old sister, both with classical PKU, I am hopeful that this conference will have a positive impact on the way our PKU is treated.
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