Tuesday, February 17, 2009

Total breakdown....

No, I am not having one (that I know of at least) we are going to talk about the total breakdown in communication with the state, my pediatrician, and everyone else involved in newborn screenings and PKU.

First of all they knew he had the hyperphe after the 2nd test but we were told he didn't. Then we were told that the test being sent back east (the bladder bag and heal prick) were to get a definitive answer for whether or not he has PKU but in reality its to test for some obscure form of PKU (I don't think my pediatricians assistant still gets this) because they already knew he has the hyperphe.

Finally after all of my pushing and insisting someone from the state call me directly, we find out about the hyperphe. We were told that since its not full PKU that needs a special diet, for now, that we don't get referred to a special Doctor. At the same time there is no one that I can ask my questions to so I just keep pounding the newborn screening people at the state with my questions. Its such a rare thing that there isn't much info on the Internet and they usually refer you to a specialist so pediatricians don't know much about it other than a definition. And my pediatrician just kept asking me if another Dr had called me yet.

Then about future care...First they told me we do two more blood tests, one in 4 weeks and one 2 weeks after that and then he never has to be tested again. Then they change and say just have him testing again sometime before 6 months. Then its two more times before 6 months. Then its get him tested basically when you feel like it! Not that they ever contacted me about the change they just told me something different every time I contacted them.

So after me hounding them with yet another e-mail this is part of the response I get back...

It's nice to see parents who really take the time to understand their child's newborn screening results and ask so many questions. Honestly, we have parents who can't even remember what their child has, nor do they follow through on appointments or treatment. We certainly don't have to worry about your family. Good job!

Don't hesitate to ask any further questions. I know April is a long time to wait for your appointment with Dr. Longo, so call me anytime.

Really a nice way to say YOU EMAIL US A LOT (which I do) But lets look at that last line again...an apt with a Dr!?! Who is Dr Longo?

Apparently we have had this apt since he was two weeks old, they just forgot to tell us! Seriously though, I'm so grateful that we have this apt so I can finally get clear answers from someone who knows what they are talking about!

And last of all.... after 3 calls to my Pediatricians assistant I got Davis' protein and amino acids tested so we can confirm that he is either totally fine or if he actually has the hyperphe too. Poor John had to take him in to do the test because they had to draw blood from his arm and Davis can hold a grudge and I didn't want to be the one holding him down!


Boons said...

That must be extremely frustrating, but hopefully you will be getting some REAL answers in April! Sorry you have to go through all this!

The Fin's said...

Maybe they booked ya cuz you bugged them so much!!! haha! All will go well, you guys are amazing, and You will get answers, hopefully it will just go away!!! Let me know if you need anything!

Shannon said...

How frustrating!!

Sara said...

Oh man Lisa, that is beyond frustrating!!! I'm glad you have that appointment in April and hopefully the communication will get better!