My son test results came back positive for PKU last week and my pediatrician have referred us to another doctor since he has never treated this. I have been researching this and I am worried my son could suffer since his doctor appointment is not until Feb 12. That will make him 35 days old. From what I have been told from other sources he should be on a special formula to help with his PHE levels and currently he is still breast feeding. Should I try and find another doctor or is there no need for concern. nAny comments would help me a great deal. Thank you!!!
Hi my name’s Breanna, I’m 15 and both me and my 8 year-old sister have PKU. Your son should be fine for now, but if you really are concerned and don’t want to wait then I would say go ahead and find another doctor. Your the mother so if you think your going to worry until then then just get another doctor because it’s not worth waiting. Also, I just want to tell you this, everything will be okay. When your son begins to eat foods just keep him on his diet and educate him about it and he’ll be just like everyone else. He’ll just eat alittle different, most of my friends didn’t even know that I had PKU until I told them (some of them I’ve known since 4th grade, I was homeschool until then so that was when I began making friends). Most of them said I seemed just like them and they would have never guessed and now that my friends know they are all really interested. I’m just as social as my non-PKU sibilins, almost a straight A student, I dance (tap, jazz, ballet and pointe) so basically what I’m saying is your son will be just like anyother kid if you keep him on this diet for life. nBreanna
Hi, nWhat was the level (should be a number) of his PHE test? Normal is between 2 and 6. Perhaps your son’s test was very slightly elevated. When my son was 2 days old his level was 8. When the test result came in our son was just over a week. Our doctor had us go to the PKU Clinic in Minneapolis, Minnesota, that day. When we got there they tested him again and his level was up to 35.
Is your doctor referring you to a PKU Clinic or another family doctor? My gut instinct would be to call your doctor and insist that he make arrangements for your son to be seen at the nearest PKU Clinic immediately. I’m not saying this to frighten you. With the right diet your son will be perfectly fine. Easton is now 11 months old and healthy and happy in every way. But this is a serious situation and more immediate action may be needed than your doctor is providing. Where are you located (if you don’t mind sharing)? Perhaps there is a PKU Clinic nearby. nPLEASE let me know how things turn out!
Thank you both so much for your info. I called the doctor office and they are saying that he will be fine to wait until then and that I shouldn’t worry. I live in Salt Lake City, UT and it is a clinic at the university of utah that I am bringing him to. I have been doing a lot of research on it and am learning a great deal. It has been stressfull getting ahold of people to get answers. They wouldn’t give me his PHE level over the phone and said that it had something to do with his PKU screening results not really that he has PKU. They told me he was PKU positive but that was because something in one of the screening test came back elevated. So really I am now trying to find out what test was not proper and I should hear from the dr tomorrow. I was referred to the clinic cause my pediatrician has never treated PKU and doesn’t know much about it. He was talking that it was more of a Carnitine defficiency and that was what we are going to treat it with. The clinic is saying that it is someting else. So I am just playing with games of trying to get answers of what we are going to treat.
I’ll try to give you a brief answer as to how you’ll treat your sons PKU (sorry if I’m alittle hard to understand, I’m alittle out of it as I’m sick right now). Anyway, your son will have to be put on a low Phenylalanine (also called a low protein) diet which means no meat, dairy, bread, pasta, nuts ect. Basically nothing high in protein. He will also have to drink a special metabolic formula to get all of the nutrition that he is missing because he isn’t able to eat meat and other foods. You’ll also have to do blood tests which depending on what your doctor requests could be anywhere from once every week to once everyone month.
What your trying to treat by putting your son on this diet is the amount of phenylalanine in his blood. For someone with PKU their body can’t process an amino acid found in protein called phenylalanine into tyrosine so their bodies send the phenylalanine to their brain instead of tyrosine. Phenylalanine can build up in the blood stream and eventually block the blood flow and oxygen flow to the brain which can cause things like headaches, tremors/shakes, poor concentration, irritability, mood swings ect. But no need to worry because if your son remains on his diet you can avoid all of this. I hope this all helped some what. nBreanna
Hmmm. Okay. So maybe your doctor mis-spoke when he said PKU. I’m glad you called him again just for your own piece of mind. Check back with us and let us know what happens at the clinic.