• PKU
• MSUD
• Tyrosinaemia
• IBS Syndrome
• Cows Milk Allergy
• Crohn's Disease
• Diabetes

I am no doctor, nor do I purport to know more than any medical professional. I am simply a father whose world was turned upside down when finding that my second daughter had been diagnosed with a metabolic disorder at birth.

The internet is a fantastic tool, bringing a wealth of streamlined information to our homes with just a few finger taps. When not sure of what it is you are looking for, however, the information that is randomly selected for its relevance to your search can be very misleading. When your search includes the complexities of the human body and the welfare of a loved one, the articles that you stumble on can be extremely worrying.

Our daughter was born with a metabolic disorder that was explained to us as being PKU. We'd never heard of it. How bad was it? Would she survive? What would happen to her? The mind races at times like this. That evening, countless hours spent at the computer reading Google-generated articles provoked strong emotions; predominantly of worry and fear. What we did discover was that our chances of being in this situation were 1 in 12,000. We considered ourselves extremely unlucky. Life was unfair.

Stories and postings on forums would tell of those whose lives were seriously affected by this disorder, their bodies unable to process the amino acid phenylalanine. Diet restricted to a very low protein intake, their days were punctuated by the need to take supplements in the form of a protein shake. This drink would provide the other nine essential amino acids required for physical and neurological development. Those with PKU not adhering to their diets faced developing symptoms such as depression, ADHD syndrome and, in extreme cases, profound irreversible brain damage.Modern medecine should ensure that with early detection the latter does not occur. There are many people who have 'full blown PKU' who, with proper care, can lead relatively normal lives.

What is important to note is that there are varying severities of the condition. My experience was that this information is not provided to parents of new-borns, the doctors seemingly unable to predict with any certainty the behaviour of the disorder in the first year of an infant's life. Given the neurological development that takes place over the first twelve months, it is perhaps understandable that no guarantees can be given. Knowing of the different types of PKU and the potential outcome in each case, however, may have reduced the level of worry and anxiety for us as parents.

Mild PKU (sometimes known as Variant PKU) is a diagnosis in itself, the key being that the defective gene is able to process a minimal amount of phenylalanine. The patient's phenylalanine levels will be closely monitored to ensure that they remain within an acceptable range. Journals reflect that rather than relying on the diet, patients may be able to go on and come off the diet as levels vary. Medical opinion, however, seems to be that the diet should be adhered to even in cases of 'Mild PKU'. The reason for this is to lower the incidence of adverse medical effects caused by fluctuation of phenylalanine levels.

There is a further condition that comes under the PKU banner. In my opinion, this is the condition that affects our daughter. It is known as 'non-PKU hyperphenylalaninaemia', the non-PKU part of the name seeming to set this disorder apart from the 'PKU family'. It is the mildest form of phenylalanine intolerance, and therefore it has the lowest risk of intellectual impairment. Monitoring of the condition is advocated, but dietary restrictions are usually unnecessary.

Given that the problem here is genetic, the prognosis is predictable. Doctors have told us that from experience, the gene's ability to convert phenylalanine remains constant throughout life. Whilst the patient will never actually recover, the condition should not worsen over time. It is still early days for us. Phenylalanine levels fluctuate dependent on diet. Regular monitoring is therefore vital. Our daughter is only 11 months old and is still in the critical development stage. We remain encouraged by her progress to date. She does what every other child her age should be doing, and in some ways is more advanced. When she was born, we thought ourselves very unlucky to have been the 1 in 12,000 who would find themselves in this position. In contrast, we now consider ourselves very lucky to be dealing with non-PKU hyperphenylalaninaemia and not the full blown form of the disorder.

I found myself glancing at a packet of chewing gum a few weeks ago. On it was written 'contains phenylalanine'. I don't know how long that wording has appeared on that packaging. Perhaps it's something that was only recently introduced. Or perhaps I've never noticed it before because prior to my daughter's diagnosis, I had no need to know what phenylalanine was. It's strange how the mind works.

This experience has brought me close to the uncertainties that are characteristic of such disorders. In today's information-fuelled world we have grown to expect the answers to all our questions. It is humbling and at times frustrating to be faced with a disorder, the effects of which cannot be defined, just 'best guessed'.