I'm the proud father of a beautiful little boy that was just diagnosed with mild PKU (his count was 672). Like most parents, we were caught off guard, had never heard of the disease before, and would like to learn more about what his life will be like, how is 'mild' different from 'classical' in terms of diet and food choices, or can we expect that his diet will be exactly the same as a person that has classical PKU. Most of the information we read is on classical PKU, but it seems the diet of classical and mild are virtually the same, so I'm not sure of why there is such a distinction of the two, aside from count.
Like most new parents ,we're also very worried if he would have suffered any permanent brain damage at 9 days of age, and what development challenges will he face, if any.
Thanks to everyone out there. This site is a terrific resource and I'm really happy to have found it.
First of all congratulations on your new son :). I am sure having a new baby in the house is a very exciting experience, but considering the circumstances it is probably a bit overwhelming as well. Take a step back and just cuddle him! He's going to grow up fast!
With proper treatment your son will be just fine. I was diagnosed and put on the low protein diet at nine days of age. My initial phenylalanine level was much higher than your sons, probably around 1200 ummol/L. Today I am a happy, healthy nineteen year old college student studying nursing. I monitor what I eat, drink my metabolic formula, and do regular blood tests. Other than that I am able to go to college, dance, work in a child care center, and do virtually everything other college students are able to do.
Having mild PKU just means that your son has a little bit more enzyme activity. This means his phenylalanine level is a little bit lower than someone with classical PKU, and he might be able to tolerate a little bit more protein in his diet. Treatment for classical and mild PKU is exactly the same: a low protein diet with a metabolic formula. The low protein diet usually excludes meat, dairy, beans, nuts, and most grains, but there are many special low protein foods that he will be able to enjoy. These foods are low in protein and meant to imitate foods such as meat, breads, pastas etc. The metabolic formula will provide him with any nutrients he is missing in his diet.
I hope this helps, and please don't hesitate to email me at email@example.com or send me a message here if there is anything I can do to help.
~Breanna 19 CPKU
Congrats on your son. My name is Katie, 25, and I have PKU. Briana spit out my words – we do that alot to each other! If you have any other questions, feel free to contact me too!
Congratulations on your son! Our son, Ace, is going to be seven months old tomorrow! They haven't come right out and said that he has mild PKU but that seems to be the case. They say that compared to most babies his age he is able to tolerate a lot more protein, but I think our clinic likes to wait until he is eating more solid foods and less breastmilk to say for sure. Ace had a level of 7 when he was a week old (someone on here will be able to tell us the difference in scales) our clinic uses the scale that says a safe PHE level is between a 2 and a 6.
From what I have learned so far I think that Ace having a more mild case of PKU means that he will probably be able to have any fruit and veggie he wants (rather than selecting the ones with the least protein), regular breads and pastas (rather than low protein versions), and possibly even some real milk and cheese (rather than rice milk or low protein cheese). But my clinic said not to get too excited until we see how he handles food:)
As far as brain damage I was SO worried in the beginning when Ace would even get as high as 4 that I finally asked the clinic how high his PHE would have to be and for how long for him to suffer damage and they said he would have to be a 15 or higher for weeks (and they said that would never happen because they would come take him from me and figure out what was going on…..LOL)!
It seems so overwhelming right now and you have to work through those feelings but trust me when I say the day will come that you will be truly thankful that he only has PKU and not something worse. And when he starts to smile and coo and giggle and roll and crawl you will forget all about brain damage. I am here if you need anything…but I am still learning too!!!
Congratulations on your new baby. My son, Ian (who is now 8 months) old was born with hyperphe also. At first I was so scared and like you, shocked that I had never heard of PKU. It was a very hard thing to hear that something was wrong with my baby.
He is doing very well though, when he was born his level was 5.6 and it had been around 3 until he started eating more foods. Its really a trial and error to see what food they can tolerate when they have mild PKU. Of course, right now Ian is on the everything but meat diet, but his levels have raised quite a bit from bread and pasta.
I have to agree with AceMommy, once it settles on you and the shock wears off you will be so thankful that your son has such a manageable condition, compared to some of the other terrible things he could have.
AceMommy, I was so glad to hear what you said about levels leading to brain damage (15 or above for a month+). I have a beautiful son who will be 4 months in just a week (I can't believe it) and he has been classified as a 'moderate PKU' early on. Due to several growth spurts in the last couple of months (he went from being 70th percentile in height at birth to 97% by 3 months), he has also gone through a couple rapid changes in his Phe needs and consequently, in blood Phe levels. Once his blood Phe dropped to .42, the dietitian decreased Periflex Infant by 15 g, and the week after we were up to 11 mg blood Phe level. Long story short, he has been around 10 mg for the past 3 weeks and I was worried sick that it would have permanent effect on him. The dietitian finally bumped up his Periflex intake up by 20 g per day, so hopefully, this will bring the Phe level below 4, so I can breath easier.
It's been quite a journey so far. I am at a point when most days I am grateful for such a manageable condition. Although, there are still days when I am worried sick.
I am so glad that information helped you! I know it helped me relax…..I used to live in a constant state of fear that a 7 was going to damage his brain!!! Our pediatrician did a HORRIBLE job of informing us that Ace had PKU (basically handed me a paper that said he was going to have seizures and be mentally retarded, told me to stop breastfeeding him and that we had to take him to the PKU clinic and left the room!). It took me months to recover from that and to believe anything my clinic said about Ace living a healthy normal life. Like you said its been quite a journey….but I am also at the point where I look at kids in wheelchairs or with autism and am thankful that Ace isn't in that situation.
I think the other thing to remember…..and I may be wrong about this….but I feel like he made not have a level of 10 all day long…..maybe it was just that high when you took his blood? I am starting to relax about it all….but we are also starting solids and I feel my anxiety level starting to rise:)
AceMommy… Thank you once again! Good luck with solids and please keep us posted on how your little guy and you are doing!
Oh… and regarding the pediatrician – that is just sick! I felt nervous enough because our regular pediatrician seemed to have been clueless regarding this condition and relied completely on the specialist, but at least, she didn't offer any clueless prognosis. That must have been absolutely terrifying!
Oh wow that is terrible how he told you. Thankfully our pedi was very nice about it and let me sit in his office and cry til I felt better so I didnt have to walk out of the office crying in front of everyone