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  • Writer's pictureSam Balenzano

The Off Diet Diaries

Today's post won't be like my other posts. Usually, I post uplifting, encouraging, sometimes challenging but rewarding stories of victory when it comes to this disease.

However, in order to celebrate triumphs, I believe we must recognize where we could be without them. When babies are two weeks old, they receive a blood test in their heel to check for metabolic diseases. But what if the child for some reason goes undiagnosed? What if it is before 1964, and there is no testing for metabolic diseases? What if you get diagnosed, but your parents fail to give you the treatment you need, or you come off diet at an early age?

In order to celebrate triumphs, I believe we must recognize where we could be without them.

If left untreated, PKU can cause severe brain damage, or even death. My boyfriend actually had a teacher in college where his brother had PKU and unfortunately was not diagnosed and ended up dying from the disease.

Some people that have gone off diet, or children that come off diet will experience a musty odour in skin, breath, and urine, caused by too much phenylalanine in the diet. They also might have lighter hair, skin and eyes than they normally would without PKU, because the same enzyme responsible for breaking down protein is also responsible for providing pigmentation to the body.

When undiagnosed children grow up, they experience neurological difficulties, and are unable to provide for themselves. They are unable to dress, feed, and look after themselves because their brains are unable to function in this way.

Here are some symptoms that untreated PKU may lead to:

  • Irreversible brain damage and marked intellectual disability beginning within the first few months of life.

  • Neurological problems such as seizures and tremors.

  • Behavioural, emotional and social problems in older children and adults.

  • Major health and developmental problems.

This is why treating it early is so important, because as the brain develops, it must develop in a healthy way otherwise the brain damage will remain permanent.

I was born in 1994, so people in my age group were told that it is never okay to come off diet. I'm very thankful for this, because I have never been tempted by foods I can't eat, or been tempted to come off diet. The generation before me had it a little bit harder, because they were told they could come off diet once they reached a certain age. This has recently been revoked, as doctors realized PKU has no cure and is a life long treatment, so some people in this age group might be tempted to come off diet. I've heard of people in this generation and above that have eaten things they weren't supposed to and it blows my mind that they did this! Not that its their fault, but they were fed false information about coming off diet, just because the doctors didn't know too much about the disease.

Unfortunately, PKU treatment is a learning curve for everyone. In the year 1964 is when they started actually testing for PKU, so its quite a new disease that is being monitored and there is still quite a few new tests and studies that are going on around the subject of PKU.

These symptoms that happen when someone comes off diet or is untreated is not reserved just for these two groups of people however. There are many symptoms that can come from having low or high phe levels, even if you are on a strict diet, which I will talk about next week.

This week was kind of heavy, but this post is not meant to scare people or make them discouraged about PKU. It is to inform those who don't see PKU as a serious disease, and to motivate new PKU moms and dads and people struggling with their diet that they can reach an unmatched potential if they stick to their diet! It's really as simple as keeping on top of your diet, and you'll be surprised by the level of accomplishment you can achieve!

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