Tuesday, September 16, 2008

Our Story

(As told on our blog...)
Ryan has a metabolic condition called Phenylketonuria, or PKU for short. PKU is an inherited, genetic condition in which the body can’t process phenylalanine (Phe), an amino acid found in many foods. Matt and I were both silent carriers for the gene. When babies are born, a heel stick blood test is done to test for various disorders - PKU is one of the disorders that is tested for. In the US an average of 1 in 15,000 babies is born with the disorder. People with PKU have a deficiency of an enzyme which is necessary for the proper metabolism of an amino acid called Phenylalanine(phe). Phe is an essential amino acid and it is found in nearly all foods which contain protein: meat, eggs, dairy, nuts and many other foods that are not generally thought of as containing protein (eg, most wheat products, such as pasta and bread, and some fruit, such as oranges and cherries). Additionally, Phe is found in aspartame, the sweetener found in most diet soft drinks,sugar-free jello and sugar-free candies/gum (look on the can of soda, you'll see the warning). If you have PKU you must follow a strict "low protein" diet to avoid all food sources that have high Phe. If the diet is not followed, phenylalanine is not adequately digested in our bodies and it builds up in our blood. Too much Phe is toxic to the brain. High Phe levels over an extended period of time can lead to vomiting, irritability, eczema, the loss of pigmentation in the skin/hair/eyes (people with untreated PKU often have light skin, blond hair and blue eyes) seizures, psychological and behavioral issues, and severe mental retardation. The goal of PKU management is to keep the amount of Phe in the blood at a safe level in order to protect the brain. The National Institutes of Health (NIH) recommends that blood Phe concentrations remain between 2 and 6 mg/dL for newborns to age 12. It is recommended that Phe levels be maintained between 2–15 mg/dL after 12 years of age. Currently, management of PKU consists of limiting Phe intake. To get adequate amounts of other amino acids found in protein (without the damaging phenylalanine), people with PKU have to drink a special formula. They have to drink this for their lifetime. However, there have been such amazing advances in the PKU foods, there are now other form he can get the amino acids he needs...special chocolate bars, flavored drinks. There are several companies that produce numerous kinds of "lo-pro" foods such as their version of mac-n-cheese, brownies, cake mix, pastas, cookies, breads, burgers, etc. Majority of the food will be veggie based. There is a special book which lists most foods on the market and their PHE content. PKU is certainly a detrimental disorder if not treated properly. If babies are put on the low protein diet at a young age, and they follow the diet throughout life, there is no evidence that their PKU will be a major hindrance in their accomplishments.
So here is Ryan's story. A few days after we came home form the hospital, we received a phone call telling us Ryan was a "red flag" for PKU and needed to be brought back in to be tested immediately. We had heard of PKU but really had no idea what it was. We were so worried and upset. When we started doing research online, the only words that stuck out were "mental retardation" and neurological disorders". After a few blood tests, meeting with a specialist and a nutritionist we learned Ryan had a milder version called mild hyperphe. Basically what this means is Ryan will be on a restricted diet, he may be allowed some things that a classic PKU person may not. We will know this as time goes on. We may have to "count" his Phe for the day and he may only be allowed a certain anount. He is goes for blood work once a month and sees his specialist and nutritionist. His levels remain within normal range. He drinks 2 bottle a day of his special formula and one bottle of milk.
I'm not going to sugar coat it...I had a really hard time accepting that Ryan has PKU. I was devastated. Here I was at home with my 2 beautiful babies and then one phone changed a huge part of our life. I constantly thought about it, it overtook me some days. I became extremely anxious. I started worrying about what he is going to eat in school or hard it is going to be to feed Katie things that Ryan can't eat. What's going to happen at birthday parties or family outings? As I started researching online and reading other families stories, I learned everyone felt this way and it will get easier. When we have children, all we want is for them to be happy and healthy. Well, Ryan is healthy and he certainly is one if the most happiest babies we know!
Ryan is 15 months old and doing great. His Phe levels are between 2-5 and he is maintaining. His diet consists of lots of fruits and veggies, pasta and lo-pro veggie meatballs and ravioli. He loves cheese sandwiches and on occasion he is even allowed a yogurt. Because Ryan is hyperphe we are able to try higher protein foods like regular bread and pasta. He loves waffles and Trader Joes sell wheat free/dairy free waffles which happen to be lower in pro then regular waffles. Some days are still hard for me. I find that if I start to think too much about it, I tend to get overwhelmed. I do know however that PKU is a manageable condition and we are all doing great.
If you would like to learn more about Ryan and his twin sister Katie, check out our blog at Double Serving of Love.


michelle hays said...

Nice to meet you. You have a gorgeous boy!

Chelsea said...

I have a hyperPHE little boy myself! I know exactly how you felt - there were a LOT of frightening words out there when I was researching PKU after the heel stick came back postive.

He's 20 months now, and it breaks my heart that he wants roast and ham off our plates, but we're in a good place! Hopefully you can help us with tips on how to get toddlers, especially ones with hyperPHE to LOVE VEGGIES!!

Hadeel said...

Hello dear, my daughter was diagnosed with PKU, i am constantly crying, she is 4 and half month now, I am worrying about her future, I never heard about PKU before, I dont know what to do.
I read your story, I hope that Rayan is doing great, is he still taking his formula, how he manage with his diet ?

many thanks,

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