Hi, Im new to this site. My brother has PKU. He was diagnosed at 8 yrs old. He has never been on the diet. He is now 44 years old. He has developmental disabilities. I am wondering if there is anyone else like my brother?
Hi, I’m Breanna. I’m 16 and have PKU like your brother, but I was diagnosed shortly after birth. I know for a fact there are people out there who were late diagnosed, since Robert Guthrie didn’t create the newborn screening until the 60’s.
Anyway, talk to me anytime you want! nBre
Hi I’m Peggy. I haven’t been diagnosed officially. I can’t get my doctor to test me. I know about it because I have bad seizures when I was drinking diet coke and very sick. I have progressively had more problems until my neuro system is breaking down, cognitive problems, my retinas (in my eyes) have cysts they can’t explain (they said it was from stress, ha!) and I have tissues (muscular) pain and spasms all the time now. I was diagnosed with Fibromyalgia but I think it stems from the PKU problem. I do wonderful when I don’t eat any protein. I have noticed that when I was eating soy products it was almost worse than eating meat. I can’t digest beans and lentils either. I can’t tell you how relieved I am to find someplace that actually knows what I’m going through. I know I’ll have to find another doctor to help me pin this down technically, but I’m already beginning the diet and I notice a difference already. Glad to be here. Peggy C
Hey Peggy, I personally would think before going on any special diet you should probably check with a doctor (besides the one who refuses to test you of course). Mainly because your body still needs protein wither it turns out you have PKU or not. The difference is if you have PKU you take a supplement (commonly in the form of a formula) to get protein, minus Phenylalanine which is the ‘bad’ amino acid that those with PKU can’t have.
The only thing that makes me wonder if this is PKU is what I read in your profile. You said you have a daughter and in many cases when women with PKU have children and are not on the diet their children suffer from various problems like mental retardation, microcephaly (small head), congenital heart defects and sometimes the women can even have miscarriages. Also, those who have PKU and aren’t diagnosed young tend to have massive problems (one being siezures like you said), but also serious learning problems and possible mental retardation.
Please don’t get me wrong, I’m completely willing to help and I’m not doubting you or anything! Wither it is PKU, some other diagnosis or nothing at all I’ll help in anyway I can, but I just wanted to give you a little bit more info on undiagnosed PKU/being off diet. So if you have any specific questions regarding the diet I’ll be more then happy to help. (By the way that’s so cool that you’ve ridden horses!). nBreanna 16 with CPKU
I dont have PKu but I work with a gentleman in his 60s who was born before the Guthrie test was introduced for all new born babies.
I help look after him with a team of support staff. nPrior to living where he is now he was in a long term institution for people with learning disabilities and before that he was cared for athome by his mum until she died. nWe dont have access to his past medical history bur he hasnt been on a diet for at least the last 7years although that has changed recently. nHe used to be very lethargic, uninterested in most things and moody and often presented challenging and difficult behaviour. nHe is also medicated (long term) with major tranquilisers. nSince being referred to the dietician ( who normally works with babies and yopung adults) he has become a new man. nHe appears happier,more cooperative, less moody ,More physically active and in general much happier with life. nHis IQ will never improve but I believe that by being on a low PHe diet his quality of life has improved tremendously. nWishing you and your brother best wishes.