Post # 1
My daughter is a week old and her pediatrician said We have to go to an endocrinologist. I’ve read a few articles and they aren’t making me feel better. Meds for life risk of retardation. I’m freaking out. Can anyone share their experiences with this.
Post # 3
I don’t have personal experience with this but I did nanny for a newborn with PKU. While there is a risk of mental retardation, I believe if you make sure the baby follows the propper diet the risk is very minimal. The only real difference in the baby I watched vs other babies was that they had to prick her foot and test her levels periodically and she was on a special formula. The family found a support group and found that to be the most helpful thing – other families who had first hand experience. I know it seems very very scary but I think it’s manageable now a days.
For now try to avoid googling (I know that’s much easier said than done!) and start compiling a list of questions for your doctors.
Post # 4
Okay, let me make sure I have the problem correct – the baby’s newborn screen (sometimes called the PKU test) showed that the baby is at an increased risk for a thyroid issue? Is that right? It’s sometimes called the PKU test because that was the first disorder on the newborn screen. But IF THE NEWBORN SCREEN IS POSITIVE FOR A THYROID CONDITION, THAT HAS NOTHING TO DO WITH PKU.
First, the newborn screen is a screen. It’s not diagnostic. They will likely need to do additional testing to see if your baby actually has a thyroid condition. Second, if there is a thyroid condition, most are very treatable with medication. The reason they put a disorder on the newborn screen is because if you know about it early and treat early you can prevent symptoms.
So don’t panic. Make the appointment and the endocrinologist and she should be able to answer your questions. This may turn out to be nothing. If it’s something, the endocrinologist should be able to help.
Post # 5
I work with adults with developmental disabilities, and one of my clients has PKU. She is disabled because they didn’t test for it at the time she was born, and therefore she was not on the diet. Just stay calm, prepare questions, and most importantly, know that your daughter will be just fine! My client has a little brother with it who has a PhD and is amazingly successful and totally normal. It’s all about how strict you are with the diet.
I’m not sure how it is for infants, but I do know about the diet for when she is older. There is a formula that everyone drinks that will help them to receive a lot of nutrients since their diet is so limited. Avoid aspartame, gluten, protein, dairy, and artificial sweeteners to help make sure her PHE levels don’t get too high. The formula doesn’t taste very good, so being creative and putting it in a blender with some ice and fresh fruit to make a smoothie is a great way to help make it taste a little bit better! There are a lot of companies who make some great PKU food options too. CamBrooke foods is amazing and has a TON of options for meat substitutes and even PKU cheese so that she can feel like she is having “normal” food.
I hope this helped, and that everything goes well with the new doc. It’s a very different diet to get used to preparing, but with dedication, your daughter will grow and develop to be the same beautiful little girl she would be without PKU. Feel free to PM me with any other questions!
Post # 6
It’s not pku they are saying anything about. Pku is what the heel prick test is called but it checks for much more than PKU including thyroid function. They are saying get thyroid numbers are off. Again nothing to do with pku the disease. Only that pku is the name of the screening.
Thanks everyone for your responses.
Post # 7
Anybody else? What she would possibly have is called congenital hypothyroidism. Anyone have a LO diagnosed with this or have a LO screen positive and not have it.
Post # 8
@ames12708: I also work with learning disabled adults. I have one client who has learning disabilites because of a congenital hypothyroidism. They didn’t find out about it early enough. From what I’ve read and experienced, they would begin a levothyroxin-therapy. As far as I know, retardation is likely possible without the medication. If given early enough, her IQ and cognitive functions will be just fine. The longer you wait, the higher the risk of retardation. Fingers crossed it will all work out fine. I would make sure that you don’t just get send from one physician to another – time plays a huge factor.
Post # 9
I work in a lab and I know that PKU cards are sometimes difficult to collect and they need to be repeated. It can be a struggle for a phlebotomist to get the blood from the heel to the paper on the card. Sometimes the state rejects them because of poor collection With that being said, if it were me I would go to the dr appt and see what they have to say and do whatever follow up testing they recommend. It is probably faster to do the follow up testing than it is to wait for the state to repeat the PKU.