Friday, August 28, 2009

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'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.


Ryan's Mommy said...

Well, crap. I'm sorry you're having to deal with this. How scary. I will think positive for a false positive on the follow-up test.

And I totally get what you mean about choosing the donor. I am PG with a DE baby now and I think about that sometimes. What if the kid has some health issue, and I beat myself up about it because I could have chosen a different donor and had a different outcome. But then I think, then I'd have a different baby, and wanting a different baby would mean not wanting the one I have.

It's tough.

Summer said...

From what I know of PKU (not much beyond what was in biology class in college), it seems it will mean paying a lot of attention to what Bambina eats, but if she does have PKU, you have definitely caught it early enough to avoid any mental retardation.

Thinking (false-)positive thoughts, here.

areyoukiddingme said...

Much luck with test #2 - I hope it was just a false positive. It seems like you have good reason to believe that it was.

I'll be praying for Bambina, and for you too.

Alert: Academic meanderings of my mind, which have no real place in the emotional world of your child's health...feel free to ignore:

It does bring up another question regarding DE, though. If the test were to come up positive (which I'm hoping it won't), would you go back and tell your doctor that this donor has the gene? Is this something that should be on a donor profile?

Danaly said...

Congratulations on your gorgeous baby girl! Don't know if you are checking your work email so leaving this here. I'm familiar with PKU as one of the kids in our playgroup in CA had it. Email me if you want to get the Mom's number or contact info to ask her questions. She's very well-informed and extremely passionate about spreading PKU awareness.

I know it is more work but once you get used to it it's no big deal. The special formula is expensive but once they are off it you'll be amazed at how their diet is really not that different from another toddler's diet, since most kiddos don't eat that much protein anyway. I'll be thinking and praying for you.


Coco said...

I can't imagine how scared and nervous you must be, waiting for the results! I will def keep your little girl in my prayers!

Riley said...

I am so sorry to hear this - I'm hoping you get better news after the second test. And I understand what you are trying to say about the whole DE part of all this. Wow- just really makes it tough. I'm thinking positive thoughts and praying for you and little Bambina.

Bluebird said...

Thinking, praying - all that!

For what it's worth, I can completely and totally see my mom and I having the exact same conversation. In fact, we have had that same conversation but about my clotting disorders, which are so incredibly minor compared to what you're dealing with! But still, she wants someone to "blame" I suppose. . . ugh.

I'm so sorry you're dealing with all this. Fingers crossed for a negative retest.

Sprogblogger said...

Oh I'm sorry you're having to worry about this. Hoping like crazy that it was a false positive. Thinking of you.

Anonymous said...


Jojobee said...

Oh my! What a shock of news. I will definitely keep you all in my prayers and pray that it is a false positive!

Anonymous said...

As an FYI - Some health insurance plans actually cover the cost of the "special" foods needed for people with PKU. Her formula might actually be covered or partially covered under your plan. Call your provider to check.

(I write health insurance benefit booklets and contracts. Even if your current booklet doesn't say anything or excludes it, still call. The booklet could be old. Some booklets contain language to the effect of "Does not cover the cost of food, nutritional supplements, vitamins... unless Medically Necessary..." You would still qualify in this case since the formula is definately medically necessary.)

Hope C said...

I'm so sorry. I'll say a prayer that it is a false positive and that if it isn't she stays as well as possible.

amazingk8 said...

Wow - as you probably already know, PKU has a false positive rate of 90%. That's a freaking huge false positive rate.

I'm so sorry you have to go through such a scare. Thinking lots of (false) positive thoughts for Bambina!

Mad Hatter said...

I'm so sorry the first test was positive - I really hope the next one is negative...How worrisome for you. I hope you're getting some sleep and that little Bambina is doing well. She's very, very lucky to have a wonderful mom like you who's going to make sure she gets everything she needs to thrive. XOXO

Best When Used By said...

I will be doing both - praying and sending good thoughts. Let's hope it's a false positive. Let's hope God is just giving you a moment of pause, but will let you continue on your merry way. Hoping and praying.

Renovation Girl said...

praying, praying, praying...

Em said...

Hello Peeveme,

I hope you do not mind the intrusion. I have PKU on my Google Alert list because my 3 1/2 year old has it. Your blog post popped up.

I just wanted to reassure you that yes, there is a massive false positive rate. All your daughter's newborn issues are probably the culprit, not PKU.

BUT, and only BUT, if she has it, I wanted to offer you some in the trenches perspective - first, stop reading the bad stuff :-), second, you CAN do this, third, you will be surprised how fast the diet becomes routine and part of your life.

At our first genetic counseling session right after L. was diagnosed, we were fortunate enough to meet a 13-year-old boy who just happened to have PKU - he was a wrestler, a football player, an honor role student. Typical teenager, who just happened to not eat meat or regular pizza.

If you need ANYTHING, please do not hesitate to write me - (

I'm sure by early next week you'll be one of those souls who gets to say, "damn test, all that worry for nothing," but if your daughter is the 1 in 15,000, you CAN do this.

Think diabetic vegetarian - without that whole nasty death thing.

Em said...

P.S. most ethnicities have PKU - especially the cultures that tend to not multiply outside of their own race.

Irish decent is a huge factor, and usually the link in America. Both my Hub's family and mine came to America via somewhere in the U.K.

In the DFW, we have a wonderful support group. I am the only one, out of about 20 families, that has any history of PKU. I have an older cousin that has it (in his 40s).

nishkanu said...

How scarey. I am really sorry you are dealing with this. I will be thinking of you and hoping for (a) good news and/or (b) for finding that it is as easy to live with after all as some of the experienced comments have said.

Anonymous said...

An insightfull post. Will definitely help.

Karim - Positive thinking

Anonymous said...

Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: I hope it helps. Thanks, AccessDNA