PKU.com Community Discussion Forum That’s PKU life! Just need someone who can tell me a little more?

Viewing 13 posts - 1 through 13 (of 13 total)
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  • #9258
    Avatar of Joy
    JW1990
    Member

    Ok here goes, my mum has PKU and she's one of those proud people who don't like to talk about things but I really want to know more.
    Sorry if I'm being intrusive.
    I know that it's serious, but is it life threatening? Like one of those things that can just give at any time? Is there anything I could do to help? We can't afford the diet and medication so we just kind of do what we can. So far all I know is that it's inherited, that it affects the brain and that she cannot break down something which is most proteins and as a result it get changed into something else and stored into fat. (I could have gotton that last part wrong I'm still kind of fuzzy on that part :/)

    #9259
    Avatar of Joy
    JW1990
    Member

    Oh and another thing, I was on the recipes page and saw 'home made spicy fries' which I thought was weird because before I was born when my mum was trying to have me she wasn't allowed potato… ever :/ So I was kind of confused by that too :/ Did something new happen so that people with PKU are allowed potato?

    #9264
    Avatar of carrie
    clenk
    Member

     I would do a search for PKU and see if you can find a good website to guide you through the basics but basically PKU is a disease that is not life threatening but if not treated can cause lots of different brain issues. If not treated as a child it can cause brain delays and problems with development and as an adult can cause mood swings, aggression and problems concentrating (memory loss) etc. She is not going to just die- even if she was to have something high PHE. Almost all food has fat, sugar and protein and the trick is to figure out how much PHE (an amino acid in protein) is in each type of food and what your range is. Bannannas for example have a lot more PHE than apples which have almost nothing. Potatoes have a greater amount of PHE than some other veggies BUT…it is all about how much PHE each person can have and what they choose to fill up on. It is sort of like weight watchers point system- everything has a PHE point value and if you eat high PHE food then you can only have very little of it but if you eat lower PHE you can have more. Every individual also has their own PHE idea intake per day. Some are 150mg of PHE and others might be 700mg of PHe so it really depends. But all in all lower phe intake = better. 

    And you don't have to worry about contracting the disease – it is a metabolic genetic disease so you are born with it or you are not- and if your mom has it and you don't then you are a carrier. Which means your kiddos might have it if you marry another Carrier or someone who has PKU – but even then it is not guarenteed. If you marry another carrier you have a 1 in 4 chance of having PKU babies. 

    #9268
    Avatar of Joy
    JW1990
    Member

    Thanks for replying. I didn't know much about the food part so that helped a lot :) I already knew I couldn't 'catch' it though lol Just wondering if there was much I could do to support or help my mum, but you helped a lot so thank you :)

    #9274
    Avatar of Becky
    beckyboo
    Participant

     Aww when I read this I was nearly crying…but I am pregnant and a complete hormonal, emotional wreck at the moment! lol!

    It is really lovely that you care enough about your mum that you would come on here 2ask people if she is going to be ok and stuff!! 

    I have PKU & if my lil 1 grows up 2 want to know about my PKU then I will be a very proud and touched mummy! lol!

    Anyway helping you, as clenk already said, it is something that can be treated. As long as your Mum was treated when she was younger then she will be fine! He said to search a basic PKU website, I personally wouldn't advise it, because when I did it I was shocked and scared about what I read and I HAVE IT. I know all the symptoms and the diet and everything already and some of what I read just ALARMED me! When I searched it also said about if untreated the patient could be mentally retarded. I was really shocked to see that language like that is still being used today! 

    I mean obviously you will want to know stuff and the internet is an amazing source of information. But could you not ask your mum if she has any information or leaflets you could read? I know when I was diagnosed (it may be a bit more recent than your mum but) my mum got all this information and she has a whole cupboard near enough with all that stuff in it! 

    If not, could you not go to any PKU appointments with your mum?! Her dietician could probably help you to understand a bit more?! 

    I really hope you get all the answers you want and if you want to message me at any time with any questions, please feel free!! x x

    #9276

     PKU is a genetic disorder that your mother would have inherited from both of her parents (both were carriers and probably didn't know it until your mom was born).  With PKU your mom should be following a low protein diet and usually people with PKU will also take in a special low protein formula.  There are a few websites that have really good websites with recipes such as cookforlove.org, and dietforlive.com might have some.  As far as how much protein your mom can have would depend on the severity of her mutation.  Everybody is different and there isn't a set amount that everyone can have.  

    Technically what happens in someone who has PKU is that their body cannot breakdown phenylalanine.  Usually it breaks down into tyrosine, but with someone who has PKU they can lack all or some of the enzyme that does this.  When they lack it either partially or in full then the phenylalanine overflows into the blood stream and can be deposited in the major organs and cause issues over time.  

    As far as something bad happening quickly that isn't how PKU works, but instead it is something that can go slowly over time (with babies and young children it affects the brain rather quickly, but with adults it can happen slower).  Being untreated as an adult can cause serious complications over time especially if your mom has one of the more severe forms.  

    I am curious – why won't she talk to you about PKU?  After all if she has PKU then you would be a carrier of the disorder which would mean you could pass that gene onto your babies someday.  They would only have PKU if your partner was a carrier or had PKU as well.  

    #9279
    Avatar of Becky
    beckyboo
    Participant

    Oh what a thicko!! I didn't realise your mum didnt want to talk about it! 

    Well I would then say that the internet would be the next best source of information, if your mum isn't willing to talk. This website itself has lots of people willing to help and lots of information on it!

    I have PKU and would be more than willing to answer any questions if you would like to ask them!! x x

    #9280
    Avatar of Becky
    beckyboo
    Participant

     I dunno if ur in the UK or the US but I found an excellent webby that is really good and doesnt have any scary lingo in it http://www.nspku.org/what_is_PKU.htm

    #9281
    Avatar of Louise
    louise84
    Member

     Hi JW1990,

    I have pku and i am pregnant but i came off my diet at 15-16 and im now 26 and 16+5 weeks pregnant and therefore have been back on the diet since may-june of this yr,  I did have all the problems u listed that pku's that dont do diet have and i do still have some but i would never advise taking a low protein diet with out the formula (medication) ur body needs certain vitamins ect that is in the formula which we pku's dont get from foods on low protein diet cos we dont eat the foods with them in! So as i was told by my consultant for my pku i needed 2 eat plenty of normal foods even high protein foods 2 get these vitamins ect e.g milk, yoghurt, cheese, meat this is 2 ensure that ur body is not lacking in all the other things it needs from the formula. If ur mum was 2 do a low protein diet and take now formula she would very soon fall ill worse than if she didnt do the low protein diet as her body wont be getting the things it needs 2 function. I managed 16 yr's off my diet and apart from the slight problems i have which doesn't affect every1, i put mine down 2 an extremely hard childhood not 2 do with my pku and an even harder adulthood. I would just advise ur mum 2 eat things with all the good vitamins in n stuff like cheese, yoghurt ect but also eat plebty of lower protein foods as well just make sure she's gettin them vitamins n stuff. Well i hope i've helped in some way and plz add of msg me anytime, good luck with ur search about pku, but with out medication or health care professionals involved with ur mum and her pku there is not much u can really do! As the pku diet will only work well 4 ur mum with the medication with it, otherwise it'll just make ur mum ill.

    Hope 2 hear from u soon and know how u and ur mum r doing! 

    Louise x

    #9287
    Avatar of Andrea
    _rea78
    Member

    Sorry but nobody with PKU should be eating any kind of real dairy products – regardless of their daily Phe allotment.  NO cheese, NO yogurt, NO milk, NO icecream. That is not advisable. These foods are much too high in phenylalanine.  Although butter is an exception ….1 Tablespoon of butter or 15 grams has only 6 mg of phe which is low.  Your mom should stick to fruits and veggies (with the exception of corn and peas), PKU formula, special low protein food products you can order online (insurances usually reimburse for these),  and maybe some limited cereal and white bread products.  Although I did find some imitation cheese slices for my daughter that are very low in phe. I hope your mom sees a dietician to help guide her through this nutritional maze. It can be difficult. I wish you and you mom luck.

    #9290
    Avatar of Joy
    JW1990
    Member

    Thanks for the responses everyone :) It means alot.

    beckyboo – lol I get what you mean by the websites, when I read a few I was like :O WHAAAAT lol and congratualtions of the baby!!! And yeah she got treated when she was younger, well as far as I know she was on a strict diet but she came off of it when she was in her late teens early 20's so the effects aren't as bad as they would have been. Oh and thanks for the link I'ma take a little look in a minute :D

    Momto9kidlets – My Mum doesn't like to talk about things that worry her because she's disabled with bad back and muscle problems, when she gets upset/angry/worked up about anything her muscles get tense and puts her into alot of pain (she also has anxiety and depression so she can get tense easily) therefore she relies on my dad to tell me things, he's told me a few things like why she has it so I know about the gene thing and a few other bits and bobs.

    Louise84 – Hey thanks, yeah my parents can't afford for my mum to go on the low protein diet really because of how much money the medication costs along with with cost of the food aswell I think that's why she's not on any diet. Her symptoms aren't that bad I don't think, maybe it's just coz I'm used to it lol I think I may ask my dietician to get some leaflets for me or talk to me about some sort of alternative if there is any. You helped a lot thanks :)

    _rea78 – Thanks, I think I'm going to try and talk to her about it, if not I'll go see the nuitritionist myself, I think it's been way too long to try and get her to go back but it's definately worth inquiring about.

    You guys have been so much help I think I'll stick around I'm really glad I got an answer to my question :)

    #9292
    Avatar of Louise
    louise84
    Member

     _rea78,

    My advice was on the grounds that JW1990's mum can not afford 2 do the diet and i was just passing on the advise i was given by my pku consultant when i came off the diet of my own accord, he told me 2 eat plenty of yoghurt, cheese, meat ect

    If u r on diet then this is not what u do obviously as these r foods that u r 2 avoid but if u r not on diet u would be eating these foods anyway and therefore r advised 2 eat plenty of it 4 the extra vitamins or whatever is in the foods, it makes no difference as u would be eating these foods already as u r not on the diet!

    As 4 the butter thing i dont know were u got that from as im 17 weeks pregnant and have been told 2 put as much butter as possible in as much food as possible and when pregnant pku diet is more stricter than it will ever have been or will be in a woman's life!

    High fat/sugar from the likes of butter, oil, fizzy drinks, boiled sweets ect r really good 4 pku expectant mothers as it push's the protein levels down in ur blood, weather this is advised 2 any pku i dont know as u do put a lot of weight on and i know that when pregnant that is the best and 1 of the main things they want u 2 do! Saying that i have lost almost a stone now since falling pregnant and my levels r ok, they have been up a lil but down again with in 3 days on my next blood test. 

    No body can survive off the pku dietry alone with out medication as the body needs more than what it will get from those foods alone! Hence why if ur none diet andr medication u r advised 2 eat plenty of the above foods!

    #9293
    Avatar of Becky
    beckyboo
    Participant

    Just to put it out there, I was given the same advise as Louise. I would not advise what _rea78 suggested, not without the medication anyway.

    If you aren't able to afford the medication, then to come off diet all together would be the best option. If you are on a low protein diet without medication, the effects would be far worse and she would be far more ill, then if she was to just eat meat, dairy, etc.

    I'm still not sure where you are JW1990, but if you are in England, then your Mum CAN get a pre-payment certificate. This allows to spread the cost of prescriptions over the year. Its something like £12.00 a month and you get unlimited prescriptions for the year. However, if you are in America or somewhere, I know there is insurance involved and I wouldn't know how to advise that!

    It is ALWAYS better to be on diet than off for a PKU person. But if the diet is just financially not possible, then it is best to be off diet all together, eating meat and everything is the best option.

    I hope you found my website some help?! Again, add and message me if you have any Qs! x x x

Viewing 13 posts - 1 through 13 (of 13 total)
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