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  • #7821
    Avatar of Ruth

    Hello, I have an 18 month old daughter, Isla, who has CPKU. We live in London, England. I just wanted to say hello as I haven’t been on this site before. I would love to get in touch with other PKU mums, although I think the diet is managed very differently here in the UK to the US – we have exchanges and free food (fruit, veg etc) – so we don’t have to measure and record the Phe in everything.
    I wanted to add a positive note as I really think that PKU is not the end of the world so long as it is managed correctly. I just feel so grateful that Isla was diagnosed and treated in time. She is brilliant! It seems completely improbable that diet has already changed her life so dramatically – from having hardly any future to having the same opportunities as anyone else. Incredible really.
    Isla is managing very well on the diet and we’re very proud to see her develop so well. We feel extremely lucky that Isla has a condition that has been very manageable so far. She has never been in any pain, lives a completely normal life and is very bright (too clever sometimes!). I also have a friend in his thirties with CPKU and he is happy, healthy, speaks two languages and works as a lawyer in the city. He is also married with a new baby – so we have proof that it is possible for a life with PKU to be happy and fulfilling!
    I have two specific questions: n1. We live in England and I don’t think that Kuvan is available here yet, but I am very interested to read that some patients with CPKU are responding. Is there any more information on this? Also, does anyone know how the PEG PAL trials are going? n2. I sometimes notice that Isla’s hands are a little bit shaky and have read that this can happen in PKU patients even where diets are well controlled. Has anyone else experienced this? On the other hand, this usually happens when she hasn’t eaten for a while – e.g. in the morning when she’s just woken up -so it could just be low blood sugar or something.
    Thanks! nRuth

    Avatar of Tracie

    Hi Ruthie, nFirst of all let me say Welcome to this site,and congrats on your baby girl.Aren’t they fun.A little about me.
    I am 39 yrs and i have PKU(Borderline).
    I have a beautiful healthy 11 yr old girl,and a wonderful husband.So yes you can live a normal life.We are just on a special diets.
    I am a strict Veggie,and i am allowed 60 grams of protein a day.(Just no meat,nutsetc.)
    I was born in Warrington England,and we moved to the states cause my condition te UK Drs. had no clue what to do with me.LOL
    Don’t worry about your daughter she’ll do fine,and i can tell you are very attentive to her,and that will make alot of difference. nAs for Kuvan i am on it and i am responding in a positive way. nBiomarin makes Kuvan,and i suggest you speak to your Dr. out there,and see if your little one is a canidate. nThey are located in San Fransico Ca.
    I can get you all the contact info when you need it.
    Once Again Welcome. nTalk to you soon, nTracie-PKU

    Avatar of Breanna

    Hey Ruth,
    I’m glad to hear your daughter is doing so well! You mentioned that her hands sometimes seem shaky, are they shaking a lot? My doctor told me that everyone has a ‘natural tremor’ meaning that everyones hands shake a little bit, some more then others. I’m sure it is nothing, but maybe that would be something to ask at your daughters next appointment.
    As for Kuvan, I do have Classical PKU and I am on Kuvan (I have been for over a year now). I was told that I probably wouldn’t respond because I have Classical PKU, but considering my tolerance went from 300 mg of phe (20 exchanges) to 1000 mg of phe (66 exchanges) I would say I definitely responded. Check out this thread, or just ask me, if you want to know more: nBreanna

    Avatar of Ruth

    Thanks for both of your replies and advice – you both sound like you really know your stuff!
    V interesting to read about Kuvan. Tracie – wow 60 grams of protein sounds an awful lot, probably more than I have in a day! Is that how much you can have after you started taking Kuvan? Do you still have to take protein supplements?
    Isla is only having 5g protein per day, This is what we call 5 exchanges in the UK – each exchange here is 1g protein or 50mg Phe. So Isla is on 250mg Phe / day, although she is also allowed things like bananas freely, so I guess she is actually having more like 300mg.
    Anyway, I will definitely ask our doctor about Kuvan, but I am fairly sure it is not yet licensed here. Have either of you had any side effects from it?
    Isla’s hand shaking is very subtle, so it may just be normal, but I’ll check with our doctor at our next appointment. My friend with PKU says his hands have always been a bit shaky, and the doctors always tell him that’s because of PKU.
    Anyway, thanks again so much for your help!

    Avatar of Tracie

    Hi Ruth,
    Its Tracie.Yes i am pretty fortunate to be able to eat that much.My Dr. says i have a veryrare Gene Mutation.So my body breaks some protein they just don’t know how much.
    I still don’t eat meat or any poultry or evedn fish.All those are still no no’s.LOL
    In my Drs. eyes.As for the Kuvan the only thing i experience is occasionally heartburn. nSo i’m doing pretty good with it. nUnfortunatly i do still take my protein supplement.Phenex 2.The one thing that lacks in Kuvan are assortments of vitamins.
    I hope i was helpful for you? nTake care, nTracie-PKU

    Avatar of Amber

    Hi Ruth. My name is Amber and my beautiful 3 week old, Justin, has PKU. I wanted to tell you that you and I share our outlook on PKU. We are truly blessed to have such precious little angels. It is so nice to hear about an older child doing so well. It really gives me hope for Justin’s future. Good luck!

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