Looking for some insight. My son has mild hyperphe. he is 10 weeks old, his level currently is 3.7 being on 2 bottles a day of phenex. I go thru satges whereI am having a rough go at it thinking about the future and such. I have a few questions for my next appointment with geneticist but wondering if anyone had any insight.
At such a young age how does the doc determine what foods make the levels rise? For example, if he starts eating baby food with chicken do they wait to introduce a new food after his blood work.
Do all people with hperphe have to drink the formula for life?
How is is determined how many ounces of a particular food or protein can he have?
I know each case is different I was just looking for anyone to share their experience.
Also, does anyone know if the pill that may be introduced means they can eat what they want and it just blocks the phe?
Hi, I’ve got mild/moderate PKU, but was diagnosed with hyperphe as an infant in the early ’70s. To try to put your mind a bit more at ease, let me tell you a bit about my experience. In the ’70s, it was standard practice to have kids with classic PKU on the diet and formula only until age 6. Having hyperphe, I was on the formula only until age 3. In the ’80s, they discovered that this was a bad idea, and began recommending diet-for-life. However, as my doctors had told us a decade earlier that I wouldn’t need further treatment, we never knew about the change in treatment protocol. I learned about the recommendation of diet-for-life in my early 30s, and after being off-diet for 29 years, contacted a geneticist and dietician and went back on-diet. Despite being off-diet all that time, I have never had any negative effects. I live a completely normal life (aside from the diet and formula), I’m married, have a master’s degree, and function normally in society. That said, EVERY case is different and you need to follow your doctor’s recommendations regarding your son’s care. If they recommend he stays on the diet, KEEP him on the diet. There is currently a debate, apparently, on whether those with hyperphe, like your son, need to be kept on-diet. As a child, he likely will be, to ensure that his development is as healthy as possible. As an adult, he may be able to relax or stop the diet, depending on how high his levels are untreated. As for now, 3.7 is a good, healthy phe level. If you keep him near that, he should do well. The doc will determine what foods to try him on based on his/her experiences with other PKU/hyperphe kids and your son’s tolerance for higher dietary phe. How much dietary phe he can have will be determined the same way, based on how he responds to higher phe intake. The pill that will likely be introduced soon (Kuvan) does not block phe. What it does (trying to keep it fairly simple) is to help the body’s residual ability to metabolize phe to work better. Which is why it won’t work in many people with classic PKU, as they have little to no ability to metabolize any phe, whereas someone like myself and possibly your son, who still have some ability to process the phe, could benefit. Hope this helps.
thank you som uch foryour response. as you can imagine i am a little overwhelmed . i try not to think too far ahead because who knows what the future holds. maybe my son wont even need to be on a modified diet. do you know if the pill allows hyperphe people to eat what they want? also, do you have to drink the formula now?
With hyperphe, whether he’ll have to stay on the formula will really depend on how well he processes phe. If his levels are under 10 as an adult off-diet, he probably won’t have to be on formula. The BH4, if he were to respond, might make it more likely that his levels would stay lower. And yes, I do have to take the formula, but I’m not actually hyperphe, it turns out, I actually have mild PKU, and my levels are a bit higher off-diet than those with hyperphe. To get my levels down below 10, I have to be on the diet.
Hi I just read your question and don’t worry things are going to be ok. MY grandson was diagnosed with classical pku and we did the same thing had the same questions and worries. As your baby gets older and starts eating baby food, the nutritionist will help you figure out his food. With Chance (my grandson) we will do his blood level and his nutrionist will call and refigure his solid amounts and phenex amounts and we go from there. Our biggest scare was figuring out the phes. but we did it and now its second nature.
When our third daughter was born and diagnosed with hyperphe, we were crushed as our other 2 daughters were not and had no knowledge of what PKU was. Being active duty military and sometimes having little access to specialists, we were never told about the “formula” until she was 1 year old. I had breastfed her the entire year, and then once introduced, she would not drink it no matter how we disguised it. Since then, we have monitored her diet completely excluding meat, dairy, beans, nuts, and breads to name the short list. She is a vegetarian and has never known anything else. We keep her levels at 6 or below, and she is a happy, healthy, intelligent kindergartener. We order many food products from Cambrooke Foods and PKUPerspectives. When her sisters eat waffles, we make special ones just for her. When her sisters eat BLT sandwiches, she gets hers on bread we bake for her and without the bacon and with avocado instead. Don’t worry, once you get a routine, feeding your child will be second nature.
Hello, I just found this site and so far it has helped me understand a little about this condition. My cousin just found out he was the dad of his 11 month old son and he just recieved custody. we are still trying to find all the info we can about this condition. I have to make an appoint with his specialist but they will not be in the office untill tuesday. The case workers on his case have not really anwsered any questions about this condition. He is currently on phenex-1. I was reading a few blogs and was wondering how many bottles a day dose he need? Or what kind of food can i give him? i don’t know his levels yet but i do not want to give him the wrong thing. so if anyone could help give me a little insite untill i see the specialist i would greatly appreciate it thank you….
How much of his formula he needs depends on him personally. For example I’m supposed to take enough formula so that it equals 45grams of protein, but my sister is only required to take 40 grams. It should say on the can of his formula how much each tablespoon etc is equal to home much protein equivlants (I hope I’m making some sense).
Until you see his specialist I would probably suggest feeding him mainly fruits and veggies. But watch out because things like peas, corn, squash, pumpkin are all very high in Phenylalanine (that is what he has to limit in his diet) so those are all probably no food. The same with bananas. I’m not sure how much you know, so I’m just trying to explain as simply as I can. Applesause, Hunts lemon or lemon mirangue pudding, fruit snacks (like fruit roll ups) are free. Most candies like laffy taffy, skittles, starbursts and hard candies are free so long as they aren’t sugar free, don’t contain asparteme, nuts or chocolate.
When you go in for his first appointment be sure to ask any questions you have! Don’t be shy about it because you getting the knowledge you need is so very important. I’m 16 and have PKU so I’ve been living with PKU for 16 years and I still find that I have questions for my doctor or dietitian sometimes.
When you go see if you could get things like email addresses and phone numbers etc from your specialist and dietitian. That way if you ever have a question you can get an answer.
If you ever have questions for anybody on this board feel free to ask! I know for sure that I’ll try to answer your questions if I can! nBreanna 16 CPKU
Here’s a site with accessible answers to some of your questions.
The doctor will tell you how specifics about his formula, but this website should clarify what foods will be okay for him when he’s older.
Also, here’s a really neat website with comprehensive information on lots of genetic conditions. It covers what it’s like to have the condition, what causes, how is it treated, how common is it, etc.
The doctors know the amount based on his current levels. you are never to introduce “unreccommended” foods without their knowledge. If his levels are too high or low they adjust the amount of protein he can have accordingly. Every food has a set amount of protein in it and that is how the ounces of a certain food is determined. Everyone has to stay on the diet and the formula for life. Yes it is inconvienent but there are so many worse things that he could have, hyperphe is not all that bad. There is a pill to block phe absorbtion but most doctors do not recommend it. This is because it does not get rid of PKU, it only allows you to have more protein. You would still have to be on the diet and take medicine. Honestly, I dont see it as worth it. I’m allowed only 5 grams of protein a day and I am doing great! Meaghan 18 with CPKU
i was diganosed with pku when i was 2 weeks old.i am now 21. i have been on the diet my hole life.. i cant even imajin ever going off of it . i live in Victoria BC canada. it is mandatory to be on the diet for life. i have read about americans that can go off the diet , some have little sideffect or none while others have so many or brain damage..i know i struggeld with the diet as a teen and as a reslut i have mild memory loss and lost 1 IQ point.. but honestly i cant really tell.. im normal and healthy and leave a prospers life. i would say to all the new parents of pku children that u shouldnt worry to much.. there has been so many improvements in the last 20 yrs , that makes life so much easier.. i know that there will be so many more advancements to come. PKU is not a problem or disese to me. it is just a way of life. a lifestyle choice for me, cause if i was told tomorrow theres a cure and i can go off diet. i wouldnt.
basicly for me i am a vegaterian who has specailly made products like pastas and baked goods. that is the easiest way to explain it. i eat unlimited amounts of fruits and vegatlbes and cook them in many diffrent ways, then i have some normal foods like ceral, rice, bread or something like that.. and my low pro foods. some ppl dont even notice that im diffrent or eat diffrent.. the only thing they ever notice is my milk , which i drink 4 times a day with each meal. and they hardly ever ask. having PKU in this time era is so much more conivent and easy. nif u have any other questions feel free to contact me!