I would like to say I am truly thankful for your site, and everyones participation. Our premature son (born at 28 weeks) was diagnosed as PKU of some level. They havent yet gotten full information, and hoping someone can help us with the clarity. We are in Ontario, Canada. We are in a different hospital then the hospital handling the testing for our son, a different city to be exact.
His first PKU test returned positive. We were told not to panic that 99% of tests are incorrect due to human error and return negative on the next run. 2nd test came back, and he is the 1% that comes back positive.
His levels are 317 which I understand is low, and will not required to be on diet, however will require monitoring. He will have another blood test in two weeks to check levels and see if they are the same, or higher.
They were following up today with an additional test. I understand it has something to do with the enzymes, and its a urine test. It takes a month to come back. What I don't understand is its purpose exactly. Will it tell us if he is hyperPHE, or CPKU or somewhere in between. Or does it specify more specifically which enzymes bother him, so we will know which foods will be more likely to be problems. Does anyone know?
I did ask our doctor, unfortunately, he admitted (well, admission is a good thing, rather not be lied to when it comes to our sons health) that he isnt fully familiar with this disorder, and he doesnt want to give me false information. He is taking the lead from the Sick Kids Hospital in Toronto, and hasn't had a chance to fully discuss the test with them.
Anyone have any thoughts? Thanks so much, Im sure I will have many questions along the way, and it is such a relief to read all the threads and eases our minds knowing everyone is so kind and helpful…Thanks!!
It was quite a few years ago, so I could be wrong here, but I thought that the doctors do a follow-up urine test to rule out BH4 deficiency (the co-factor to PAH that breaks PHE down into TYR). Again I am not sure so ask your doctor to find out the answer. Good luck with everything!
Brenda, mom to Molly 9 CPKU and Founder of Cook for Love,Inc.
Thats the most frustrating part right now, our doctors don't have many answers. We are dealing with local doctors, who are doing what they are told to do from Sick Kids in Toronto. Hopefully come Monday we will have the chance to speak again to Toronto. So many questions arise between weekly check ins, and other than the internet, and the wonderful people on these forums, they cant get answered.
Doctor today said that maybe the urine test is still checking to establish if he has pku at all, however, I when they mentioned more tests getting done (this urine one) I recall asking if it was to still determine if he had the elevated levels, and she said no, he has them, we just need more answers. Looking back, I dont know if she meant, we know he has levels 317 so he has them…did she mean right now…or forever? Did she mean the test would let us know if he went to normal range, stayed the same or elevated.
I may be my own enemy, but I am doing whatever we can, to keep informed and up to date.
Thanks for your reply!
Hugs- i've sent you a private message-
I know how difficult this is right now- and i suggest you stop researching – try to see if there is someone with pku in your area (what part of ontario do you live in?) and meet them- it does a world of good to see a real live person who has pku and is still ok!!
my daughter has classical pku and is now 3 1/2 months old. I don't know how it happened- it seems like yesterday we got the diagnosis and i rushed her to the city in my pj's bawling my eyes out- and now pku is just part of our life. She is a great little kid and we've had moments of stress and numbers fluctuating and yet it is what it is and you learn to just keep going.
2010 is a GREAT time to be born with pku- we are on the cusp of so many new discoveries/treatments. I am also from canada (alberta) and know that in canada a few weeks ago one of the major drugs has just been approved (kuvan) and we are soo lucky to have access to so much free food and formula and resourses. it will be ok!
Just read your second post
in canada all kids are tested with the heel prick. There is a about 17% rate of error in the test b/c they want to make sure they do not miss someone so they set their limits very low. People who are carriers of pku (but do not have it) usually have higher levels of phe in their body and it is possible he is just a carrier. the average person has about 40-60 at any given point but those who are carriers have higher. Those who have pku are ususally defined as those whose numbers are over 360. A second blood test is needed and then they also do a urine catch. These tests go to london ontario (the only place in canada as far as i know) to be tested for bh4 defficientcy among other things. This test takes about 6 weeks to get back. In the meantime you will likely be treated for pku. The goal in canada is to keep your numbers (or in this case your son's numbers) between 120 and 360. If- untreated his numbers are naturally at this range then you will be told to introduce him to a small amount of specialized formula (but likely not until he is out of the hospital). My doctor says that this is b/c he may need it later on and the taste is so horrid that they have to introduce it as babies or else the kids won't take it. The formula also has tyr supplimentation. You will learn his TYR numbers whenever they do a phe test b/c they also need to be in range (higher than 50 is ideal) so aid in brain development.
PKU is a bit of a catchall term- there are different forms of pku and a genetic test will tell you quicly what kind you have but it is not readily available b/c the type of pku doesn't really matter as they are all treated the same. Diet is managed to ensure the numbers are in range. If they have bioptrin deficiency rather than true pku then he'll just need a little pill every day but will still be tested to make sure his numbers stay in range!!