Sunday, August 30, 2009

No news yet

No news yet on the 2nd blood test.

Thanks for all your kind words, thoughts and prayers. I can't tell you how much it means to me.

To address a few comments:

areyoukiddingme: Yes, I would let the clinic know. Anyone using this donor should know that this information. It's only an issues if the sperm donor is also a carrier.

amasingk8: I read the false positive rate was high but I didn't know how high.

Ophelia: Thankfully our insurance will cover formula/food/ and other interventions. We are so lucky. Not to get all political but everyone should have health care. It's a human right. Medicaid for all.

D----y: Thank you! It's helpful to hear of stories where people lead relatively normal lives. To actually know someone who is managing this would be helpful.

Em: Thanks so much. Yes, the medical sites freak me out. The ones that are more family/lifestyle based are much more helpful. My main concerns have been if she could have normal intelligence and is she'd have behavioral problems. I think it has something to do with the severity of the condition and how well you monitor/stay on the diet. Thank you so much for reaching out to a perfect stranger. I can't tell you how much it means to me that you did and that you can manage it well.


Other thoughts/concerns: More kids and Embryo Donation

I have wanted a 3rd child. Mr. Peeveme says we are done. That was not a fight I was going to fight right now but one I was not going to loose. We have 7 embys just waiting. We have had to work so hard to have our children....this one would be an easy FET. How could we not? But they all have a chance of having PKU....kind-of puts a kink into those plans. Also, while Mr. Peeveme and I have not decided what to do with the leftover would also put a kink in those potential plans as well.

Does PGD test for PKU?


Anonymous said...

I am not sure of the PGD - just stopping by to wish you well and hope that you get some answers soon.

Anonymous said...

{{{HUGS}}} With the right intervention and appropriate diet (if she does in fact have PKU) your gorgeous little girl will be nothing less than perfect :)

Best When Used By said...

So glad you've found some support and useful information. Not sure if PGD can detect PKU, but it would seem like they could test for it if they know it is a specific risk. I'm still hoping this is all just going to disappear for you and that you'll get the good news that the first test was a false positive.

nancy said...

just wanted to wish you well and let you know I'm waiting with you. ~hugs~

Anonymous said...

oh my goodness what a whirlwind you're in right now. first off congratulations on the beautiful baby girl and i'll do my best to send off all the false positiveness i can possibly muster. it sounds like you've gotten some great comments from other people whose lives have been affected by PKU and if this is a road you have to walk you won't have to start it off alone. i wish you and your family all the best.

Em said...

Oh, I'm so glad you were OK with me writing, and that you found it helpful - whew. I didn't want to over step.

As far as PGD - I think there is a specific test that you can request if you already have a PKU child. Something with having to have to know the DNA placement of the gene on the first child to be able to find it during an amnio. I'm far from being an expert on this, but if you should want the test, your genetics specialist should be able to steer you in the correct direction - there is a support board where I know there is someone who tested in utero.

The behvioral thing - it does have a lot to do with management - and family history. Depression already rages through ours, so it's something we will watch for. I kind of look at it with a "typical" view - who's to say the challanges he would have faced even without PKU, you know?

Keeping good thoughts :-)

tonya said...

Hoping with all my heart that this is a false positive. Not that it isn't managable, but still. Keeping you in my heart as you wait and work through this unexpected event.