I’m not sure why, but I’m in one of those ‘count your blessings’ kind of moods today. I know that having PKU can be a bummer sometimes. It would be nice to go to a restaurant without going through the menu with a fine tooth comb just to find something to eat. I would love to be at work or school all day and not worry about how I am going to drink my formula while away from home. The fact still stands though that I do have a lot to be grateful for. The list goes on and on…
I was diagnosed! I know that might seem like common sense, but I feel like sometimes we forget what our lives could have been like. I was diagnosed, and because of that I’m living a happy, healthy life. I have met individuals who were not diagnosed until later in their lives. Some of them are doing well today, but unfortunately many of them are not.
I know we don’t always like to hear this, but it could be worse. There are so many children out there that are ill with serious medical conditions such as cancer, down syndrome, and cerebral palsy. I am sure their parents would give an arm and a leg if their children’s problems could be solved by a low protein diet. Not to mention it seems like PKU is one of the less severe of the metabolic disorders considering other disorders like maple syrup urine disease (MSUD) and ornithine transcarbamylase deficiency (OTC) can actually result in coma or even death.
The treatment for PKU has come a long way. Although I do not remember it, when I was born there was not much of a selection for formulas, and I have been told the formula I drank as an infant tasted like old moldy potatoes. Today, formula comes in the form of canned formula, ready-to-drink formula, powder that can be mixed into food, tablets, capsules, ‘candy bars’, and more. The amount of flavors available is also astronomical! We have some wonderful companies such as Cambrooke and Applied Nutrition that are offering a variety of low protein foods so that our diets do not consist only of fruits and vegetables. Kuvan is also available for those who need help lowering their phe levels, and research is being carried out for other treatment options.
As time goes on doctors continue to gain more knowledge about PKU. Because of this, I was not taken off diet as a child. If I had been born a few years earlier I may have been taken off of the low protein diet, because in the past doctors believed the diet was no longer needed after a certain age. Of course today we know this is not true and ‘diet for life’ is the way to go now. I know some of you who will read my blog will be among those adults who were told they could go off diet, so this might not apply to you. If you are reading my blog though I am assuming at some point you were told you should actually be on diet, so I suppose that is something to be thankful for right?
I know a lot of individuals with PKU think it would be cool to have siblings with PKU. I have two younger sisters who have PKU, and to be honest I would take my sisters PKU away in a heartbeat if I could. I know PKU is fully treatable, and I am glad they do not have something worse, but I also know my sisters wouldn’t have as many obstacles to overcome if they did not have PKU. I am glad that they have an older sister with PKU though. I can at least take some comfort in knowing (or at least hoping) that having someone around who has ‘been there, done that’ will help them.
Support. Enough said. We have so many sources of support today! When I was first born my mom did not have access to internet support groups like the list serv. In fact it wasn’t until she started the first PKU organization in Wisconsin in 1995 that we really had any support from other families dealing with PKU. Now we have several support groups on the national, local, and cyber levels, including the new Wisconsin PKU organization (PKU Society of Wisconsin, Inc.) that is currently being formed.
Anyway, sorry for being so long winded and optimistic. It’s just nice sometimes to remember the positive instead of always focusing on what’s going wrong in our lives. I wanted to share my ‘food for thought’, so I did. Take it or leave it ;).