Thursday, February 5, 2009

3rd PKU test results...updated


Okay so I just got off the phone with the geneticist and it IS official that he has PKU. I guess the second test did confirm it but the medical assistant didn't get it. The big test that they sent back east was to test for a special PKU mutation called Bioptrin (a very very rare mutation of PKU) which they automatically test all PKU patients for. That is what we wont hear back from for 4-6 weeks from when he was tested.

The great news is that he has a form of PKU called mild hyperphe. As of now that means that he does not need a special diet and that he could live a normal life without any special diet required. From what I understand the next year will kind of determine that. Here is what I found off of this site:

Treatment of Mild Hyperphe:
Blood levels and diet are monitored periodically to assure that the PHE level is maintained between 2-6 mg/dL. When your child begins solid foods, a blood test should be obtained by your child's primary care physician. As your child progresses to table foods, another blood test should be performed. If the blood PHE is great than 6 mg/dL, the child should be referred to a metabolic clinic.

So for now I'm just grateful that he has a mild form of a very livable genetic disorder, really we are counting our blessings that this is what we have to deal with. She also said we are lucky that he is boy because there are complications with girls even with mild hyperphe and pregnancy that can cause birth defects to the baby because of the protein that is not being metabolized. So all around we have been blessed.

For all of John and my brothers and sisters just know that we are both carriers of this so there is a chance that you also are a carrier and can pass that to your kiddos too. You would have to have married someone who is also a carrier to produce a child with PKU but its something that if your children marry someone who is a carrier and they are a carrier they can have children with PKU. There is info on that site above that explains how the genetics work.

Oh and just to let you know how rare it is, on the site they gave me as a reference guide there were almost 45000 babies tested in Utah in 1 year and 9 had it. So that's pretty rare and I will let Mark work on the % that is and report because my mind is fried from trying to read all this medical jargon!

Just one more thing...I called AZ because Davis also tested positive and then his second test was negative BUT with us knowing that we are both carriers I wanted his numbers. Beckham has so far been under 4 (good). Davis' first test came back at 3.3, 3 is too high. His second test came back at 2.2 so they called it "normal." What I'm trying to figure out is could he also have mild hyperphe since it seems unlikely if this is so "rare" that he would be a false positive. I'm waiting to hear back from the geneticist about what they think.


Mae said...

You're also aware that no diet sodas, too? (See the label for PKU warnings)

I actually have an acquaintance that has Phenylketonurosis and he's a pretty normal guy. Sure, he has food restrictions (I don't remember the no protein part, though...) but as genetic, potentially serious diseases go, I'm playing the glad game and thinking, ok, this one's avoidable.

Tyece said...

oh wow - it seems it's always something doesn't it? it's a good thing you are such a great cook cuz your kids are going to need you! are you having to be really careful with what you eat while you are nursing?... good luck over there my friend.

Lisa said...

I dont think I have to watch what I eat but I wont be eating artificial sweeteners.

SLO Rober said...

We're sorry to hear about the PKU and hope things will calm down for you here soon.

Pam (Haslem) Dana said...

Lisa... I am so sad that his results came back showing he has PKU, but I am so happy it is a mild case! Let's just hope that it stays that way and all his future tests come back good. Love you guys!

Mark and/or Lisa said...

Wow thats crazy. What's up with our family and weird medical diagnosis lately. Hopefully it won't be a big deal in the end.

Oh, and it's a .02% chance btw ;)

C, D, and S Henderson said...
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C, D, and S Henderson said...

Your family has been hammered with craziness lately! Let us know if you need anything, even though we aren't that close! We are dying to meet little Beckham and to see the rest of you too! I put a pregnancy ticker up but some people haven't been able to see it so let me know if you can!

Sara said...

I'm sorry about the PKU but I'm sure in many ways it's a relief to know. And I'm so glad it's a mild form. Little Beckham is so precious. We love you guys! We want to come visit you someday!

Grandma Caroline said...

You have been through a lot lately, but I know if you trust in the Lord, he will open all the doors you need. He will take care of your family, I promise. Sorry, we had genetic disorders to pass on, how would we have known?