Community Discussion Forum New to Another newbie here

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    Avatar of Adam

    Hi everyone,

    My wife and I had a child one week ago and he was diagnosed with PKU.  First, let me thank all of you who post on this site – I have browsed here for the past few days and was able to educate myself much more about the disorder and worry a LITTLE bit less than I was before.  Thank you for all that has been said.

    I have a few questions about PKU and I was hoping that I could lean on your expertise here; I know that many of these questions are probably common, but I would love to hear everyone's thoughts nonetheless.  In our situation, we are a little more prone to worry than most as we lost our first child due to a cord accident (stillborn at full term) – so any deviations from expectations cause panic (and isn't parenting just one giant deviation from expectations? ).

    First, I'm a little confused about the numbers that get tossed around here.  I realize that people are talking about their experiences in different parts of the world, and that might be the reason behind differences in numbers.  We are in Seattle and our son Dominic's first PHE readings in his blood were 5.8.  He went in a few days later for the confirming test and it was 7.5.  From what I understand these are fairly low levels for PKU, but what kind of scale should I be anticipating here?  When do I get scared?  I realize that my physicians and pediatricians that we're working with here will tell me that, but I also feel like they're trying to keep us as optimistic as possible (with good reason) and so I'd love some confirming answers here as well.  They have told us about infants that they have seen in the past with numbers in the 30s, 40s, and 50s, and they were able to get control of those children's levels…but without much context, it's a little hard to understand fully.

    Second, have any of you noticed any other side effects/issues surrounding PKU besides the obvious?  I have been told (and read) that it is really a metabolic issue and that diet is really the only thing that it is all tied to, but I'd also love some confirmation on this. Are there other physical conditions that we should watch for?  Symptoms?  Things that PKU children/adults might be more prone to than others?

     Third, a question that I hadn't really considered this morning – what are the costs?  Obviously, there is no question as to IF we treat, but I really have no fathomable expectation as to what this will all cost (especially when looking at the fact that he'll need the specialized formula for the rest of his life).  Can anyone shed light on this?  I realize that this also may be geographic to a certain degree, but any info would be good info.

    In the end, I couldn't be happier with my little guy – he's amazing – and while this is scary and unexpected, from everything I have read and learned about PKU, it's something that will require significant work on our end, but Dominic should be fine…right?  I don't want to understate the significance of the disorder because I recognize that it is critical, but in the end we're talking about having a perfectly happy and healthy little boy, and I all I have to do is support him by giving him the diet that he needs and the education that he needs to understand that he's just like anyone else.

    Thanks in advance for any information…and as a side note, thank goodness for modern medicine.  I will be eternally grateful that this was caught so early and that my little boy won't have to suffer.

    Avatar of Breanna

    First of all congratulations to you and your wife on your new baby boy!

    It sounds like your medical team is using milligrams per deciliters to measure Dominic's phe levels. When phe levels are being measured in mg/dl they should typically be between 2 and 6 mg/dl. I am not positive, but I think my initial phe level before starting the low protein diet and formula was around 20 mg/dl, so much higher than your sons. Your medical team should be able to bring his phe levels down pretty quickly by restricting how much breastmilk or baby formula he is drinking and replacing it with a little bit of the special metabolic formula. In the beginning it will take a little bit of trial and error to determine how much phe his body can 'tolerate' (ie determine how much phe he can eat while still keeping his blood levels within safe range).

    Your son shouldn't face any ill effects so long as he drinks his formula and follows the diet. Many issues that you might hear of such as headaches, tremors, poor concentration, etc are correlated with poor dietary control. In another words these symptoms are usually only seen when treatment is not maintained. With proper treatment your little guy will grow up to be a happy, healthy, fully functional child. I cannot stress that enough!! He will be able to go to school, join sports, hang out with friends, etc just like any other child, and the only difference will be that he will need to eat a little bit differently. However, as a child my perspective on eating differently has always been 'everyone has something'. There are so many food allergies, diabetics, gluten intolerances, vegetarians, and so on today that eating differently isn't all that uncommon.

    As for the cost, the metabolic formula and special medical foods (ie low protein pasta, breads, etc) can be a bit pricey. Some states such as Wisconsin, which is where I am from, provide the formula and staple foods through the state. Other states provide an 'allowance' of some sort to cover a portion of the formula, and some insurance companies will help with this cost if pushed enough. According to this link Washington does assist with this cost. However, you will need to check with your clinic, because I am not sure how accurate this is or if there is a limit on how much help the state will provide.

    Like I already said your son is going to be just fine. It sounds like he has wonderful parents who are going to ensure he gets the care that he needs. I was diagnosed with PKU and started treatment when I was nine days old. Regardless of the fact that I have PKU I am a happy, healthy college student studying nursing, dancing on my colleges dance team, working in a child care center and as a dance teacher, and helping to setup a state support group in Wisconsin for PKU. There are so many successful teens and adults out there living with PKU, and I'm sure as time goes on you'll have time to meet some of them either through the internet or local PKU events.

    Avatar of Apostolia

     Congratulations on your baby!

    BreaMarrie has answered all your questions, she is once again wonderfull.(you had done it for me also the first panicking days, thank you sooooo much!).

    I am mother to a two year old pku little girl, my first child, the only so far. Her name is Faye, she is healthy, smart,  and terrible as only toddlers can be… I know how you feel, I can remember how overwhelming it is all this at the beginning. 

    The only thing I can advise you right now, is to take a deep breath, and enjoy your little one. It took me two months to realize that my girl has a metabolic condition of course, however she is also my precious one that grows up( and she grows up fine), and I shouldn't miss a thing….

    Everyone here will reassure you that your boy will be healthy and normal. What it takes is more effort from you and for sure lots of worrying. But it becomes easier. 

    I am still afraid of the times that will come, regarding how I will manage with the diet as she grows older, if she will stick to it as a child. But as you baby will grow and be smart and normal, you will realize that she is like another baby. And more…sometimes I think that the patience she has when I give her all the vitamins, the discipline and program with her food are things that she will gain from in her life.

    You will be fine, and you will meet lots of people ready to help you at this site.

    Ask if I can help with something.

    Avatar of Brittany

    Hi! I just wanted to say that i'm a newbie too! My 16 week old son has PKU. So far I pay $90 a month for 8 cans of phonex 1 and that is with my husband's 80/20 insurance.

    One question I had to you other people that are answering questions is, does PKU make your child have anger problems or be meaner then kids without PKU?

    Avatar of Apostolia

     When my baby was younger, every time she was crying or winging or hyperactive I thought that it was her levels going herr crazy. However everytime , the levels were in normal range. She gets never angry, but she sure has a character, and this is all day long, no matter what her levels are. Sometimes when she is sick, she is under the weather. I never check her blood levels with a fever, but I think that phe has nothing to do with it. Is is a normal child with mood variations.

    Avatar of carrie


    First of all- take a deep breath- it will be ok. I spent the first 3 months of my pku child's life reading online every stitch i could find and there is a LOT of information out there. Some of it was awesome and some was depressing. When i felt that there wasn;t anything else I needed to learn I turned to my child to see that they were growing up just fine. 

    My pku child will be 2 next month, they are sleeping in their own bed (out of their crib) are totally day/night potty trained, have an amazing vocabulary and can already count to 10 (not perfectly but pretty close!). We had asked to have special education training where we had a therapist come and play with her when she was small and teach us educational games (the fact we had two other children didn't seem to matter- we felt like newbies again!) and they kicked us out of the early intervention programs because she was so advanced. In fact in a recent evaluation she is rated at 3 months above her actual age. 

    When she was itty bitty she didn't like anyone- she wouldn't be passed around in church and no one  could even hold her. I assumed that was because she had PKU (as i'd read about social anxieties) and so i encouraged social activities but didn't push them. Just last week she pushed her way around a random janitor (whom i was a bit frightened of) to help him vaccume the hallways.

    She is charming and funny and a real joy. 

    However- pku is a pain in the butt. Although it is hard when they are a baby (especially for mom whose hormones are still in overdrive) it is not impossible and it does get easier- or you get better at it anyways. I wanted to continue to nurse- at first i had to pump and we had to figure out how much milk she could have and then we timed our nursing sessions and weighed her before and after to figure out how much she had gotten. It was a lot of work but that is one area i'm passionate about and thankfully had a supportive clinic. Which is probably one of the best things about pku- you have professionals watching over your child's diet- if they get sick or refuse to eat – you're not feeling alone in trying to figure it out!  And the pku community is awesome. 

    Are you on the listserv yet? It is overwhelming at first but a collection of 1500 pku people around the world. 

    How expensive is it- well that depends on where you are. I'm in alberta canada so my child gets formula paid for -for life- and gets a selection of baking ingredients (including pku hamburger and pku hotdog mixes), pasta, cereals, bread products and a small selection of cookies – free for life. Everything else is very very expensive . We order some treats , some meat look alikes, and when in germany we order german pku bread which is better than regular bread! 

    All in all it has its' ups and down. I read an article about how pku ers are better spouces- they learn things like self control at an early age. 

    Our clinic asked us to put her on a Kuvan trial for 7 years. We debated it- and in the end decided to stick with diet. I know some people have had great success with Kuvan but i'm waiting until she is older to see. That is a drug that can increase their phe allowance and apparently helps with some brain development although in my country they are still just doing trials right now. Good luck. 

    Avatar of Tanya

    Congrats on the arrival of the new lil one!!

    Our son will be two in May. I completely understand being stressed about the lil one, and this being an additional worry. Jacob was born at 28 weeks gestation, and already causing us incredible stress, when the news of PKU was delivered.

    Although Jacob is doing extremely well, I cant say we have hit the remarkable milestones that Clenk has achieved (Kudos!!) Jacob is right on track for being a micro premie. In some areas, he is exceeding expectations. PKU has not affected him negatively in this regard.

    There was a couple weeks where Jacob didn't seem to learn anything new. His levels returned slightly higher during this time. We were assured by the clinic that they were likely unrelated. They did however adjust his diet to compensate for the increase in levels, and he continued on with development just fine. The paranoid parent in me often wonders if they were related, however, the optomistic side, the blood levels quickly told us, the adjustment was made, and there was no lasting effects….even if it was related. (Hmm, that was meant to not stress you, not saying he was affected, I have been assured he wasnt, but even if it was, they easily intervened and corrected whatever may not have been affecting him) The point of it is to say, you're not alone. The medical teams are wonderful!!

    We have two older children (non pku — previous relationship) aged 12 and 13. I cannot count how many times I have said he is just like the oldest…and how she behaved. So, I think  he is doing just fine :)

    Cost. Agreed, different by country / state/province. We are in Ontario. Formula and select (large list) of food covered by a program here. Many more available for a fee. (Im jealous Clenk, we have to buy the hot dog mix, its about 13$ I think for the make your own package. And he loves hot dogs) Chicken Nuggets are covered thou, and he loves those too.. they seem harder to make, so I will shut up and buy our hotdogs! haha

    We have talked about Kuvan too. Jacob completed a test which says he will respond, however, I want him to be older before I look for that. As long as we can manage his diet, I prefer that option.

    Enjoy your new bundle!! In no time, PKU will seem much less than it is right now. All of our family has adjusted well, including the extended family of grandparents, aunts and uncles who can manage to feed him a meal without us or them worrying about something going wrong. He goes to a daycare (where we provide pre-made meals and portions including snacks) but his diet and safety is not a concern.

    Avatar of Natasha

    First off,….Congratulations! You guys have been through a lot and I'm sorry to learn of the lose of your first baby.

    I have read the wonderful responses above and I don't think I could add anything else to them! Dominic will do just fine with the concerned parents he has. Our son's is almost 3. His level at birth was 200+. He now tolerates 15 grams of protein and drinks 16 oz of formula spread out throughout the day. I know we are using a different scale of numbers than you, but if you get the conversion, that might give you a bit of an idea. We were told for a PKU diet, his is very liberal. We do weekly blood work, and Liam's latest trick now is to say that he, needs to do my blood to put off bedtime!!!!  Nice try :) So,…bloodwork is actually not a big deal for him at all. We mail it to a different province and then they email us his phe level each week.

    I remember my sister (a pediatrician) saying when I was at first devastated over this, that once you see him crawl, smile, walk, know his personality… all of this won't seem like such a big deal. Remember that!!!  You'll have a busy little boy that you won't be able to keep up with!


    Avatar of Adam

     Thanks everybody – you've done a lot to set my mind at peace and confirm that we are going to be okay.  Thanks for all of your responses.

    So far so good – we met with the specialist again last week and everything else with Dominic looks perfect.  They say that so far, it appears that his PKU may be a bit milder that some other cases that they've worked with.  While we know that it is still really early, that may bode well for a little bit of a LESS strict diet – but we'll take whatever we're given.  He's already so much fun and such a good baby – we're lucky to have him.

    Thanks again!

    Avatar of Tanya

    Thats awesome Catinocat5, congrats!

    Avatar of stacey

    hi congrats on the baby boy . well I have pku and was born with it . I try and keep my levels around 5 but lower then 6 or seven is way better. some signs of high phe I found with my self is my mood changes I get irraitable and I also get ezema on my skin when my levels are high . its hard to tell with a baby though but if he gets cranky alot or a rash might be a sign another good sign is the pee if it has a musty smell that is a sign too . also if my blood is too high I get tired all the time so if hes sleeping alot that might be a sign to check his blood . but overall its a disorder that gets easy with time . Ive had three healthy children with having the disorder and the things they can do now a day compared to when I was born in 79 is amazing . wish u the best any other questions feel free to email  me anytime stacey

    Avatar of Elena

    hello everybody! i m a mother of newborn son Ivan. We are from Russia, Moscow. Its quite challenging to find out some info in russian internet thats why im here . thank you guys for supporting:) i wish we ccan live in Canada or in US for governmental support…

    Avatar of Adam

     Hi again everyone!

    Time really does fly…figured I'd do a quick update since I was just bouncing around the site again and, I must admit, it was kind of fun to read what I originally wrote.

    Just wanted to offer a quick update on Dominic…he is awesome.  He will be nine months later this week, and we honestly don't really think about the PKU most of the time.  We have really gotten our routine down as far as food preparation (he's dabbled with solid foods, but primarily still doing a mix of Enfamil and Phe-Free) and clinic/blood draws, and while it's kind of a hassle and there are always those random worries, it hasn't been that big of a deal yet.  Being parents for the first time have posed far more challenges and newness than PKU to this point.

    I wanted to thank all of you for your responses as they were very comforting to me.  To anybody just jumping into this (either now or if you read this anytime), a healthy level of concern and worry is normal and probably best, in all honesty – but kids with PKU are still kids, and they're awesome.

    I don't know how much this is interesting to anyone, but I have a youtube channel where I have posted a few videos of the lad.  You're welcome to check him out. :)

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