| I am no doctor, nor do I purport to know more than | | | | diagnosis in itself, the key being that the defective gene |
| any medical professional. I am simply a father whose | | | | is able to process a minimal amount of phenylalanine. |
| world was turned upside down when finding that my | | | | The patient's phenylalanine levels will be closely |
| second daughter had been diagnosed with a metabolic | | | | monitored to ensure that they remain within an |
| disorder at birth. | | | | acceptable range. Journals reflect that rather than |
| The internet is a fantastic tool, bringing a wealth of | | | | relying on the diet, patients may be able to go on and |
| streamlined information to our homes with just a few | | | | come off the diet as levels vary. Medical opinion, |
| finger taps. When not sure of what it is you are looking | | | | however, seems to be that the diet should be adhered |
| for, however, the information that is randomly selected | | | | to even in cases of 'Mild PKU'. The reason for this is to |
| for its relevance to your search can be very | | | | lower the incidence of adverse medical effects |
| misleading. When your search includes the complexities | | | | caused by fluctuation of phenylalanine levels. |
| of the human body and the welfare of a loved one, | | | | There is a further condition that comes under the PKU |
| the articles that you stumble on can be extremely | | | | banner. In my opinion, this is the condition that affects |
| worrying. | | | | our daughter. It is known as 'non-PKU |
| Our daughter was born with a metabolic disorder that | | | | hyperphenylalaninaemia', the non-PKU part of the |
| was explained to us as being PKU. We'd never heard | | | | name seeming to set this disorder apart from the 'PKU |
| of it. How bad was it? Would she survive? What | | | | family'. It is the mildest form of phenylalanine |
| would happen to her? The mind races at times like this. | | | | intolerance, and therefore it has the lowest risk of |
| That evening, countless hours spent at the computer | | | | intellectual impairment. Monitoring of the condition is |
| reading Google-generated articles provoked strong | | | | advocated, but dietary restrictions are usually |
| emotions; predominantly of worry and fear. What we | | | | unnecessary. |
| did discover was that our chances of being in this | | | | Given that the problem here is genetic, the prognosis is |
| situation were 1 in 12,000. We considered ourselves | | | | predictable. Doctors have told us that from experience, |
| extremely unlucky. Life was unfair. | | | | the gene's ability to convert phenylalanine remains |
| Stories and postings on forums would tell of those | | | | constant throughout life. Whilst the patient will never |
| whose lives were seriously affected by this disorder, | | | | actually recover, the condition should not worsen over |
| their bodies unable to process the amino acid | | | | time. It is still early days for us. Phenylalanine levels |
| phenylalanine. Diet restricted to a very low protein | | | | fluctuate dependent on diet. Regular monitoring is |
| intake, their days were punctuated by the need to | | | | therefore vital. Our daughter is only 11 months old and |
| take supplements in the form of a protein shake. This | | | | is still in the critical development stage. We remain |
| drink would provide the other nine essential amino | | | | encouraged by her progress to date. She does what |
| acids required for physical and neurological | | | | every other child her age should be doing, and in some |
| development. Those with PKU not adhering to their | | | | ways is more advanced. When she was born, we |
| diets faced developing symptoms such as depression, | | | | thought ourselves very unlucky to have been the 1 in |
| ADHD syndrome and, in extreme cases, profound | | | | 12,000 who would find themselves in this position. In |
| irreversible brain damage.Modern medecine should | | | | contrast, we now consider ourselves very lucky to be |
| ensure that with early detection the latter does not | | | | dealing with non-PKU hyperphenylalaninaemia and not |
| occur. There are many people who have 'full blown | | | | the full blown form of the disorder. |
| PKU' who, with proper care, can lead relatively normal | | | | I found myself glancing at a packet of chewing gum a |
| lives. | | | | few weeks ago. On it was written 'contains |
| What is important to note is that there are varying | | | | phenylalanine'. I don't know how long that wording has |
| severities of the condition. My experience was that this | | | | appeared on that packaging. Perhaps it's something |
| information is not provided to parents of new-borns, | | | | that was only recently introduced. Or perhaps I've |
| the doctors seemingly unable to predict with any | | | | never noticed it before because prior to my daughter's |
| certainty the behaviour of the disorder in the first year | | | | diagnosis, I had no need to know what phenylalanine |
| of an infant's life. Given the neurological development | | | | was. It's strange how the mind works. |
| that takes place over the first twelve months, it is | | | | This experience has brought me close to the |
| perhaps understandable that no guarantees can be | | | | uncertainties that are characteristic of such disorders. |
| given. Knowing of the different types of PKU and the | | | | In today's information-fuelled world we have grown to |
| potential outcome in each case, however, may have | | | | expect the answers to all our questions. It is humbling |
| reduced the level of worry and anxiety for us as | | | | and at times frustrating to be faced with a disorder, |
| parents. | | | | the effects of which cannot be defined, just 'best |
| Mild PKU (sometimes known as Variant PKU) is a | | | | guessed'. |