ElevatedOkay 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.
We are really blessed where we live that I have so many great friends! Back in December they wanted to throw me a shower, but really I just wanted to go out to dinner with the girls, so we did. It was so fun and refreshing that we have started to do it monthly. This last month we went bowling and it was so fun! It was bitter sweet because Mandy (far left in the picture below) was moving the next day to Hawaii, I know kinda hard to feel bad for her! She and I were pregnant at the same time and delivered a week apart and both had similar issues and she has 3 other boys that are close to ours so we loved to hang out with them! Plus our neighborhood is pretty tight, mostly because there is so few of us and we live in the middle of tumbleweeds! So it was very sad.
I keep myself comforted knowing that I still have Pam!
