PKU Update

Update on Isaiah:

Sorry for the delay on getting this information out, we had a pretty long day at the University of Iowa Hospital yesterday and both Shane and I are a little sleep deprived. Luckily my parents were able to drive us down to Iowa City, so we could have a little time to think about questions we had about Isaiah's condition and not have to worry about bad roads, etc.

Yesterday we met with a great doctor to figure out Isaiah's PKU levels. Just for a starter, for those of you that aren't sure what PKU is, here is a little background. PKU was discovered 75 years ago. It is a rare inherited metabolic disease that will result in mental retardation and other neurological problems if treatment is not started within the first few weeks of life. This is why every newborn born in the US is screened for PKU before they leave the hospital.

PKU arises from the absence of a single enzyme called phenylalanine hydroxylase. This enzyme converts the essential amino acid, phenylalanin to another amino acid, tyrosine. If this conversion doesn't happen it will result in a buildup of phenylalanine. This buildup is toxic to the central nervous system and causes severe problems, usually in the brain.

Isaiah has PKU because Shane and I are both silent carriers of this gene. It is a recessive gene, which means that if Shane and I were to have any more children there is a 1 in 4 chance that they would have PKU as well. Overall, this is a very rare disease and is found only in 1 of 10,000 babies born in the US.

Because of great research during the past 75 years, this condition can be treated through Isaiah's diet. We've already started on special formula for him (although he doesn't think it is so special yet). We are working with a dietitian at U of I Hospitals who will help us figure out the ratio of how much of his formula and how much breast milk he can have. This will be a constant assessment. We will be sending blood down to Iowa City twice a week and he will be going down to Iowa City once a month for at least the first year of his life. We will have a nurse come to our home to start with and then Shane and I will learn to take the blood samples and send it off.

As Isaiah gets older, and is able to eat solid foods, his diet will be very restricted. He will continue to drink the formula for the rest of his life, as the formula will be the only source of protein that he will be able to have. We will eventually be able to add in fruits, vegetables, and some grains. It will be critical for us to stick to this strict diet, especially until he is 6-7 years old, because this is the critical time for brain development. After this critical time period, the risk for mental retardation (from the amino acids building up in his brain) will drop significantly. However, if he goes off of his diet he will have a hard time concentrating, learning, and mood swings often begin.

Isaiah's PKU treatment is even more rare, because he also has hypothyroidism. He is the only case that Iowa City has seen with both of these issues. To treat Isaiah's thyroid problems he is on an oral medication, a high dosage until things are under control, and then it will be lowered. He may or may not outgrow the thyroid problem, but if he does not outgrow it, it can be controlled by a pill for the rest of his life.

Although all of this information seemed a bit daunting at first to us, after conversations with Dr's in Iowa city, we know that Isaiah can grow up leading a completely healthy life, as long as the diet is followed diligently.

We know that all of this new information will lead to Shane and I having to make some big decisions regarding day care, figuring out how to pay for his new, and expensive formula, and special foods, etc. We know that God never gives us more than we can handle, and little Isaiah was given to us for a reason and because we are meant to be his parents, please pray that we can be the best parents for him. Thanks for all of your continued care, concerns, and prayers.