in my own boat

in my own boat

Avatar of Kyle

in my own boat


April 21, 2010 in Uncategorized

whats up guys, I've been living with pku all my life (which makes sense because its genetic). i stopped going to pku clinics when i was 17 or 18. im from jersey, and had to travel more than an hr to attend the clinic. i became fed up and insulted with the intelligence tests i was being given, "can you assemble these blocks?", being asked to carry through with childish math problems, etc.... It was a couple years before this, around 15 years old when i stopped consuming my formula. it was extremely disguisting in taste, not to mention expensive, and by the time i was old enough to say no, i refused it. The whole idea of destroying my liver with 100 pills per day didn't seem too enticing either. When i was around 12 (1998 ish) or so i was diagnosed with A.D.H.D. I took Ritalin for this for about 10 years. I started smoking marijuana regularly around the age of 17. By regularly, i mean basically every day.I'd like to think my marijuana consumption has cured my hyperactivity problem, though my inability to focus is everpresent (as i procrastinate my education project). The relation between A.D.D. and PKU has been some of the only clinical information i have found relative to my own experience. I am now 25, and after a rough start in community college, i am wrapping up my college career next month with what will be a bachelors in communication studies at a state college, in addition to taking college classes to receive my teaching certification. I had been smoking marijuana basically every day up to about a month ago, and now have a job that i am proud of, where i have the potential to make good money, It's nice to say that I've been clean. You would think along with this consuption though, there would be some psychological damage. i have never noticed any psychological problems stemming from the combination of the pku and the marijuana usage. I must admit though, to a lack of social prowess among my peers. The reason i am sharing my odd and irresponsible experience thus far as a phenylketonuric is because i am simply frustrated with the lack of information which is available to phenylketonurics. After reading many posts and blogs from other people, i am led to assume others are frustrated as well. Many posts consist of hopeless parents and teens expressing their frustrations in dealing with their diets and their children's diets. All of the individuals have been monitoring their phe levels and consuming their formulas, and though i have reasonably followed my diet my whole life, i cant help but wonder how i am not messed up in one way or another. I am kind, caring, considerate, articulate, athletic, passionate, and i like to treat others as i would like to be treated, I'd like to think all in all, that i am perfectly normal. In addition, none of the information provided for pku seems concrete. I havent measured my levels, consumed my formula or been to a clinic in almost 10 years, and id like to think i am nowhere nearing mental retardation, nor do i show any signs of eczema or a permeating musty odor. I would be silly to think I am not missing out on countless nutrients provided by the formula, though with the lack of concrete evidence supporting pku, how do we know that the formula is even all that effective? The formula should definitely be consumed, as it seems to be helping all the individuals in the posts and other reports i have seen, though id like to think Phenylketonuria effects each individual differently. As a result of this, along with a lack of research being done, i find it hard to evaluate where i stand as a phenylketonuric. I have heard that it was believed for some time that those with pku grew out of it, and could have a normal diet, though some eventually became mentally retarded. As a lot of phenylketonurics can probably attest to, i am constantly bombarded with questions by interested individuals. I find it extremely frustrating to not be able to provide solid answers. Sorry this was so long, but this has been on my chest for years. Does anyone have this same frustration in regards to the lack of concrete PKU information? Anyone have any suggestions? u can email me at- or just post on here

10 Reviews of in my own boat

  1. Registered: May 2, 2009

    Posts: 0

    Topeka, Kansas

    i hope that you get more help than what i am able to give. first of all you may have a different sort of pku than many people . hence the not needing the formula as much ? though i wouldnt throw the idea out should you want to do it sometime. i have heard there are many types. probably some things to look for in each type. I dont have the link but i have seen the info on line. hope that helps a bit. ?

  2. Registered: Feb 1, 2010

    Posts: 0

    Tucson, Arizona

    Hi, I’m Kristi. I’m 27 and have PKU. First off, congratulations on finishing up with school and the job. What field of work did you get your job in? Do you intend to combine your teaching and business backgrounds and teach business at the high school level, for example? I have a friend from HS that recently did that track and was doing student teaching to High School students last I talked to her. Also, great job on staying clean of the marijuaina for the last month or so. I know some people really struggle with use as constantly as it sounds you were using it.

    As far as the PKU-related stuff…You are right, there are MANY different mutations of the gene that is “messed up” for us PKU patients. I don’t know how much science background you have, so don’t know how much to go into it (I have several years of science background at the college level). Basically, your personal level of phe allowance will be different from potentially everyone you meet with PKU because your body is able to make its own amount of the enzyme we’re missing…which is more or less than what my body can make. It sounds like your body might be able to handle more phe than mine, based on how it sounds like you are able to deal with not tracking your diet, not taking formula, etc. Maybe not, and you just know what works for your body and what doesn’t. I don’t keep close track of what I eat each day, but have a good idea from the first few decades of my life. I do take the formula because I know that’s my body’s way of getting nutrition (the protein that I don’t eat in my diet–please ask if you don’t have a good grasp of what’s in the formula/why it’s necessary, but it sounds like you’ve done your research) and I do have my blood levels done monthly though.

    I do sometimes laugh when I’m at clinic. I honestly don’t remember ever having intelligence tests done, but I’m sure they were done to a certain extent when I was younger. I always had good grades in school and was in gifted/honors programs, so maybe the clinic didn’t feel it was necessary, based on my school performance as I got older? Every clinic is different, I know. I do, however, still have my head circumfrence measured every year at my clinic visit. Seriously? Has it changed in the last 10 years?!?

    I am fortunate enough to have always had good PKU docs and dietitians. They are able to answer my questions, explain things to me, and know that I have a good handle on my diet so I have a good amount of wiggle room and they won’t pounce on me over little things, usually.

    Over the years, I have been able to get some good explanations of PKU, especially regarding what is happening and what actually causes PKU at the molecular/microscopic level–college genetics, anatomy, biochemistry, nutrition, nursing textbooks helped! Another place I think I have used in the past, that has links or info to get information about PKU is Here, you can find information that explains PKU from a few different angles, and at a few different levels. If you are talking about frustration about living with the diet and/or what happens with certain changes to the diet, most of what I’ve learned over the years comes from the national PKU News newsletter that Virginia Schuett is the editor of.

    If you have any other questions or just want to compare stories with another PKUer, please feel free to contact me. I’m not as addicted to as I am to facebook, but I check in here pretty frequently, as well. I don’t think I addressed everything you mentioned/brought up, but feel free to message me if you’d like. There’s a fairly good community of PKU adults as well as parents on facebook, if you would just like some camaraderie.

  3. Registered: Feb 1, 2010

    Posts: 0

    Tucson, Arizona

    wow, that was a mini-novel! Sorry for my long-winded-ness!

  4. Registered: May 1, 2009

    Posts: 0

    Lee, Massachusetts

    Thanks for the post..this was very informative and I have to say i questions what is in the formula,myself i know the eseential AA that build up protein but in my opinion i think it is one of the reasons my son has such bad eczema…He will still get it of course…i guess it is just like all things..the scientists don’t know what they don’t know…they have come a long way, but need to come alot fearther. I would be interested in more on the molecular level…i can’t see why they have not found a replacement enzyme yet, i’m not a doctor but a nurse and can see how this should be able to be done and stop trying to just give pku patients more drugs and ways to “manage” there pku…any info on why they have not created or found a replacement enzyme?

  5. Registered: Apr 22, 2010

    Posts: 0

    howell, New Jersey

    Well, like i said i don’t take the formula, and i dont have eczema. So perhaps the formula itself causes the eczema? But like i mentioned in my post, none of the information is concrete, so it could be from the PKU itself.

    I am not sure why an enzyme hasn’t been found, but one thing is for sure. There is more money to be made through treatments and from the expensive formula than there would be to just give everyone the enzyme. That alone gives scientists (or those doing the research) less incentive to develop a remedy.

    Also, the lack of PKU information isn’t giving researchers much to work off of. I’d like to think ideas in developing drugs or remedies are sprung by similarities with other diseases, which furthermore lead to trial and error. With such little information, where do you start?

    thanks to all for the posts,

  6. Registered: Sep 12, 2006

    Posts: 0

    Franklin, Wisconsin

    Everyone is different. Although you may not have eczema or other issues from not following the diet that does not mean everyone will be okay if they abandon the diet. Many people have reported having issues such as ADD or ADHD like symptoms, fatigue, headaches, lack of energy, irritability, tremors, eczema, and so on due to poor phe levels. It could be that you have a less severe form of PKU, and that is why you are not affected by being off diet. Then again it could just be that you do not realize the subtle issues created from being off diet. Many PKU adults who have been off the low protein diet have said they didn’t realize how many issues they had until after they went back on the diet and saw the positive changes in themselves physically and emotionally.

    The fact that we are not cognitively disabled proves that the low protein diet has helped. If you go to this link and view ‘A Video of Katie’ this clearly shows what could have happened if we were not treated. Katie was not treated at birth, and as a result she is developmentally delayed. Even though she is an adult after starting the diet back up there were drastic changes in her behavior. I also know a woman whose daughter was not diagnosed until after her first birthday. Until she was placed on the diet she had several seizures a day. As far as I know after treatment her daughters’ seizures stopped, and she is learning more and more each day.

    YES if we went off of the diet today we would not suddenly become cognitively disabled, because our brains are fully developed, but that does not mean we cannot be harmed to some extent by excess phe.

    As far as eczema goes maybe it is caused by the formula, then again maybe not. I have been drinking my formula every day since being diagnosed at birth and the same for my two younger sisters that also have PKU. We have never experienced eczema. Gracie it could just be that your daughter’s eczema has no relation to her PKU (then again I don’t know, because I don’t know her personal situation). It’s my understanding that eczema is very common in children. My now sixteen year old non PKU sister dealt with eczema until she was nearly six years old. I work in a child care center, and one of the little girls I care for has severe eczema, so PKU isn’t the only cause of it, but I’m sure you know that because you sound like an awesome nurse and mom :).

    Kyle strides are being made in the treatment of PKU. Biomarin is a company that is dedicated to improving the treatment of PKU. They have already created a medication called Kuvan that is FDA approved to help lower phenylalanine levels. If you’d like more information you can go to or ask one of us here. Many of us (myself included) are currently using this medication. They are in the process of studying PEG PAL. I do not know a lot about PEG PAL, but from my understanding it is a weekly injection used to provide people with PKU with the enzyme that we lack. Unfortunately we have to be patient, because these new treatments are not going to appear over night. The important thing is that companies such as Biomarin are making an effort to improve our lives.

    Anyway, sorry for rambling on and on ;). That’s just my thoughts on this.     

  7. Registered: Feb 1, 2010

    Posts: 0

    Tucson, Arizona

    I agree with everything that’s been said, pretty much. I personally haven’t had problems with eczema, either, and have been on diet/formula my entire life. I do believe I’ve heard people say the rate of eczema is somewhat high among PKU patients. I just did a quick search on wikipedia (I know, such a great, scientific source for a nurse to use!) and it says that a diet rich in omega 6 and omega 3 fatty acids might help prevent eczema, and I do know that the PKU diet naturally provides next to zero Omega-6 and Omega-3’s, so many of us take supplements. Perhaps there is a relation there? I have been taking flaxseed oil supplements for several years, now. Hm…

    As far as why we don’t have a “cure”…I do agree, strides have been made recently that we have been hoping for for years. I have always been told that because PKU isn’t life-threatening and we have a “treatment” that helps us be perfectly funcional in society, we don’t get public funding very easily for PKU research. As a result, any research done towards a cure would be privately-funded. My family was never able to contribute much toward that funding because when I was younger, my parents were barely staying afloat financially with paying for the low pro foods and formula. I would imagine this was a common theme, and therefore strides in PKU research were slow in coming. It’s exciting that there seems to be more funding for such research now!

  8. Registered: Nov 3, 2009

    Posts: 0

    , Massachusetts

    Hi! I’d like to agree with most everything that has been said thus far and add a little light onto some other untouched topics.

    The issue with research in the field of PKU is, as Kristie said, due to a lack of finances and a lack of study population power. There is a much smaller pool of participants to chose from to study PKU to the extent that it still needs to be studied. And, also as Kristie has said, up until recently, PKU was one of the few genetic disorders that can be treated through diet and is not acutely life threatening compared to other higher priority disorders. (Wish it was different and every disorder got fair share of the funding… !)

    HOWEVER! There have been MANY studies very recently addressing many different issues in PKU cognitively, physiologically, socially, etc.

    The Kuvan studies have been done and have been successful for many people with PKU in liberalizing their diets through the help of BH4… (check out the resources Breanna provided). GMP is a new formula that is made of intact protein and is digested as intact protein (more naturally compared to synthetic amino acid blends). Studies have shown it to help lower phe levels and keep them consistent as well as a providing a better texture and taste. PEG-PAL is an enzyme that mimics PAH (the enzyme that is mutated in PKU) and is being vigorously studied right now in the 2nd or 3rd (slipped my mind) phase of a trial that would essentially be enzyme replacement (check out for more information).

    I am 24 years old and like Kristie and others on this site I too agree that the treatment may not be perfect, however, being in the health care field myself and embracing the recent research, I am amazed at all that has come about in the last 5 years, or even just this past year!

    There IS research being done out there and I think support is needed for the doctors and dietitians and geneticists and all other professionals that devote their professional lives to supporting us where there is not a high demand or population. They work tirelessly to answer these questions and the more available, open and communicative with them we are, the more answers we may be able to help provide. And I can say for sure that looking at what could have happened to me without the diet even at the youngest age (see: ) I know that the research done thus far has saved my life. There is further to go, absolutely, but have faith in the professionals, they are working tirelessly for us to get the answers we (and they!) want and need.

    As for the symptoms, I did have some eczema as a baby for a short period of time, like Breanna said: PKU? Or just a baby with eczema? I don’t know, I did have family history of it. Also, I struggled with my diet for a few years in high school/college- I was always essentially on diet one way or the other but not consistently and exactly what Breanna said happened to me. I functioned perfectly well, graduated high school in the nat’l honor society, as an athlete, musician, peer leader and tutor… I graduated from college with a few semesters on the dean’s list… I was doing fine and was convinced PKU wasn’t having any effect on me and I was ‘different’ and that my high levels meant nothing. It wasn’t until I realized that one day I want to have children (sorry, I know not necessarily something you can relate to) and that I need to take responsibility for my body and future (way future!) children so that I can have a healthy pregnancy. This is when I came back on diet full force and it was like I didn’t even realize things were lacking in my life… energy, focus, motivation (to stop procrastinating…), etc. There is no other way for me to say it except that I thought I owned the world when my levels were high but it wasn’t until they were low that I could look back and say… wow… What a difference!

    I rambled too, sorry about that. Hope this helped even a little bit. : ) Stay connected on here, it is a great place to find people in all different places in their lives and their journey with PKU. If you have any other questions with research, feel free to ask. It is important to realize that in many (most) health care issues, nothing is ever CONCRETE… things are always changing… in my field of nutrition, look at margarine, or eggs… we all continue to learn and develop our understanding of things. So if you investigate the research, really analyze it, see if they were sponsored, if there were enough participants to make it strong evidence, etc and then form your opinion.

  9. Registered: Apr 13, 2010

    Posts: 0

    plant city, Florida

    just wanting to comment that my son has PKU and my husbands 50 year old uncle has it as well, when he was a baby he went 11mths without knowing,my hubands grandma said at 11 mths old k-bo was like a new born,now at 50 he is pretty normal just a slight intelligance difference but he was calssified as a dull normal if you didnt know him you would never know anything by just meeting him, back then they thought you could go off the diet at age 5, he has been off diet since age 5 and the only thing i notice PKU related is his migraines,just thought i would say hes living a very normal life off diet! i do belive he might just have Hyperphe like my son this could be the reason he dose so well!

  10. Registered: Oct 1, 2009

    Posts: 0

    Tucson, Arizona

    i hav to say i was the same way. i have a son that has pku and when i found out that he has pku i did not know what it was and why he had that i go and talk to people that have pku and just ask questions i have started to understand things. i man i have spent hrs on the internet looking at websights and thinking to myself there has got to be something else i can do to get me questions aswered faster…but let me know how things are going now…

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