Tuesday, January 20, 2009

PKU: updated

I tell you, its tough to be 7 days old!

Today was his 1 week apt and while at the Dr they were faxed the results of his PKU newborn screening and it was abnormal. This happened with Davis too.

What is PKU:

Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.

Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can be a very effective treatment. There is no cure. Damage done is irreversible so early detection is crucial.

Translation: They don't process protein and basically live off shakes that don't have protein in them for the rest of their lives.

I guess its uncommon for the test to come back abnormal but common for an abnormal test to be fine after a second screening is done. This was the case with Davis. We did this today and the poor little kiddo had to have the blood drawn from his arm vein. They even used a little tourniquet and boy did the tears flow...from Mom!

He has also lost a lot of weight and is down to 8 lbs 6 oz. So it looks like nursing may not be going as well as I thought. They want him back to his birth weight in a week from today so Thursday I will go weigh him again and if he isn't gaining we will start supplementing. The hormones the Dr gave me to help me make more milk cant be started until Sunday because they want to make sure they wont give me a blood clot.

We don't know how long the results will take but most likely a few days (they come from the state). The Dr said we will know for sure if its positive because things will go wild. For example he remembers one test coming back positive and they couldn't get the parents on the phone after an hour so they sent the police looking for them to get them to come into the Dr. I did get a kick out of the thought of Johns work being raided by the police looking for him!

So for now we just wait...

UPDATED: His test results came back inconclusive so tomorrow we are going to go in the morning for a blood test again and also for him to have a bladder bag put on so we can get a urine sample too. They said things look good since it has gone down but they want to be sure. The Dr said he hasn't seen anything like this in over 10 years. They will send the samples stat to the State and then they are sending them back east to some specialist place and they will give us a definitive answer when they have it. There is a huge rush though because the longer we go without knowing the more damage we will do if it is positive.

The good news is that tomorrow I can weigh him and the feed him in the office to get him to urinate and then weigh him again and we can tell just how much milk he is getting so there wont be any question about my milk supply.

11 comments:

Mark and/or Lisa said...

poor little guy! when kam was going through all his reflux and everything as a newborn i thought about having his blood tested for allergies, but was seriously deterred by the thought of having my poor tiny baby get blood drawn.:( i hope his test will come out normal -- it's sounds positive since the same thing happened with davis. the waiting's the worst though.

Wheeler Bunch said...

Poor guy! It's hard to be a baby....

Mark and/or Lisa said...

yeah good luck with that Lis. We'll keep him in our prayers.

Pam (Haslem) Dana said...

Poor little man. Being poked by a needle. I couldn't imagine. His face does look a little less chunky. We'll for sure keep him in our prayers!

Annie said...

That's a lot to deal with. It would make me cry too to have blood drawn from my baby's arm. I hope everything turns out okay!

Sara said...

What a sweet little boy. I hope everything turns out ok. He's in our prayers!

Boons said...

We hope the results were good today!

Campbell Family said...

oh my goodness, what a lot of things coming at you guys all at once. I hope everything turns out ok. we will be praying for your little guy. he is just the cutest baby!

Lawther family said...

Poor little guy. I had to have Makaio's blood drawn in his arm when he was a baby, I passed out!! It was too hard to watch.
I hope that all goes well and that you are able to keep nursing. Let me know if you need anything and we will keep you in our prayers.

The Hamlin Family said...

I'm so sorry that your little boy is going through this right now. It's too hard waiting for answers...I am not very patient when it comes to my kids health!!! Hopefully you will have this over with soon...with great results.

OK...So I was so happy to get to see you today...and take a little peek at Beckham. I wish it could have been longer so I could have visited with you...but the doctor's office isn't the best place for that...hahaha!!! I hope Davis is feeling better. Livvy came home and cried for hours because of her ear. They are all sleeping right now...so it's peaceful here until the first one wakes up...ha!!! Anyways, keep us posted on Beckham. Oh, yeah, which dr do you go to???

PS...How was your "outing" with three kids??? It can get pretty crazy...don't you think???

Lisa said...

Erin, it was CrAzY! I called John and made him meet me at Costco so we could feed the kiddos and wait for the meds to be ready. Davis had a double ear infection and Caleb had one in one ear! Our regular Dr is Dr Marsden but he doesnt work on Fridays.

We will have to meet up sometime in town and let the kiddos play!