Phenylketonuria

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Today’s post has nothing to do with clothes, shoes, jewelry, or really anything fun.

Today I’m going to talk about Phenylketonuria or PKU, a condition in which your body can’t break down an amino acid called phenylalanine. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood and causes health problems.

Awareness of PKU is important to me because of my best friends in the world has 3 children with the disorder.

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I see this picture and I see one of my favorite families of all time. I have known and loved on these kiddos for their entire lives. They are all so funny and smart and happy.

I remember when Michael was born 8 years ago. The Hubster and I saw him about 3 days after he was born and first home from the hospital.  Janice had an intense delivery and the doctor used a vacuum to assist in Michael birth. (Let’s not even discuss how horrified I was at hearing this and might have sworn off children for years after Michael’s birth. I’m still on the fence about it.)

During our visit, Janice and Mike left us holding Michael in the living room for a second. The Hubster and I panicked and told them to hurry back. lol Then The Hubster looks at Michael and leans over to me and whispers really quietly,

“Do you think they know there’s a big red spot on the back of Michael’s head? It doesn’t look good – maybe they don’t know?”

We laugh and laugh about that now. Because at the time, we had no idea he had PKU and this bruise on his head seemed devastating to The Hubster.

A day or two later, Janice told me that Michael had PKU and that they were doing tons of research and she wasn’t really sure what it all entailed.

Since that day, so many years ago, Janice and Mike have added Jacob and Evelyn to their family. Both Jake and Evie have PKU.

Phenylketonuria is a genetic disorder inherited from a person’s parents. It is due to mutations in the PAH gene which results in low levels of the enzyme phenylalanine hydroxylase. This results in the build up of dietary phenylalanine to potentially toxic levels. It is autosomal recessive meaning that both copies of the gene must be mutated for the condition to develop. There are two main types, classic PKU and variant PKU, depending on if any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms. Many countries have newborn screening programs for the disease.

Treatment is with a diet low in foods that contain phenylalanine and special supplements. Babies should use a special formula. The diet should begin as soon as possible after birth and will be lifelong. People who are diagnosed early and maintain a strict diet can have normal health and a normal life span. Effectiveness is monitored through periodic blood tests. 

Phenylketonuria affects about one in 10,000 to 25,000 babies. Males and females are affected equally. The disease was discovered in 1934 by Ivar Asbjørn Følling with the importance of diet determined in 1953. Gene therapy, while promising, requires a great deal more study as of 2014.  Source

Saturday night, The Hubster and I went to a fund raiser for PKU research.

We learned a ton more about PKU and the effects of it. Until recently, some doctors used to recommend the strict diet only until about age 10. There are many adults with some severe neurological problems because they went off their diets. The recommendation now is obviously a protein free diet for life.

The Hubster and I were happy to be there and donate to such a great cause and help further research for PKU. With better treatment and a cure for this disorder, these sweet kids we love so much might not have to eat such a restricted diet and have blood tests twice a month.

We had a fantastic night and I was thrilled to spend time with one of the bravest women I know.

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Not only is Janice raising 3 kids with a serious genetic disorder, she’s battling her own serious health problems.

She does all of this with a smile and is always asking how she can help me and do more.

I hope she knows how much we love her and her family. And that this small blog has an impact on someone else.

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