Phenylketonuria (PKU) - In the "Spoke Too Soon" Department

There's no easy way to say it...unless you use the acronym. Got the word that Bambina tested positive for PKU, a genetic disorder. People with PKU lack an enzyme to process a certain protein. It builds up and becomes toxic and can cause mental retardation if untreated. In many cases in it's manageable with a lifelong low-protein diet and regular blood checks. She'd start on a special (expensive) formula. I might be able to continue to breastfeed if her levels don't get too high and she tolerates it well. But in some cases it's not possible to keep the levels low enough to stop the progression.

We are waiting the results of the second blood test. Trying not to panic or get too ahead of ourselves but this certainly would mean a lot of changes and difficulty for our family. It's not what a parent wants for their child.

It seems that false positives are not uncommon so we are holding out hope that this will amount to nothing more than a little scare that we will forget about years from now. Reasons for false positives (other than lab errors) are thick blood (she had to repeat one blood test because her blood clotted to quickly,...not sure that means her blood is thick but it might) and liver problem (she was jaundiced at the time of her test). Only 25 babies per year are born in California with PKU. Both "parents" must have the recessive gene and even then you only have a 25% chance of the child getting it. Which brings us to the DE portion of this situation.

The DE thing is just another twist on this. It does not make me any more or less sad but it's just something to to think about. If it were my genetics that would be that but we chose this person....I don't know why it feels different but it does. I'm not mad. I don't feel any more or less guilty because I could not have know this...it's just the luck of the draw but the 3rd person thing just adds another layer. I'm not articulating it well.

The other crazy thing is that my mom is here this week. She does not know that we used Donor Eggs. She keeps going over and over in her mind and out aloud who may be Jewish in our family tree and how may generations back it was. Don't ask me why because from what I have read being Jewish has nothing to do with it and being American Indian is a more likely reason (if I were the genetic mother). I keep trying to deflect and redirect her thinking. She also has early stage Alzheimer's so it's pretty-much a constant and recurring conversation.

Mom: How come this has never shown up before? I wonder how the gene could have made it past that many generations? etc... (Dude, the woman can not remember where we keep the knives but she knows every great-great grand parent on the family tree and where they were born)

Me: I guess we'll never know and honestly it does not really matter. What matters is how we deal with it for Bambina. I don't care about being a good genetic donor...I care about being a good parent. It's about how we deal with this in the future not how we got here.

Mom: I wonder why nobody in our family has even had this?
Me: Maybe they have. Brain damage would explain a lot about some of your family.

And the first person I called when I got the news? Mr. Peeveme? Nope. What's he going to do? Change his genetic code? My sisters? Even they'd tell you they don't know shit about genetics. I called my super-cool friend who happens to be a genetic counselor. She dropped everything to give me a really good web address about the condition and read some of the information to me as I drove to the lab for a blood test. Thanks so much AC.



So if you are the praying type keep us in your prayers. If you are the thinking type...think positive thought...make that think false-positive thoughts.