PKU patients discuss living with their disorder

[@Dragonfly_vbz]

My son was misdiagnosed negative pku after initially testing positive. 11 yrs later a dna test showed he is pku positive. I just found out 3 weeks ago. My son suffers from autism and adhd he has severe behavioral issues so severe that prevent him from attending school he stims severely he has social issues he has had seizures and is on multiple medications. I and his doctors believe the majority of his issues are due to the untreated pku. I am in shock.

[@Hello-zf5lq]

The people in the video are not autistic. Your sons autism could have also been caused by traditional causes whatever they are. Things like mold in your house, not being taught to sit still in class and use logic, and ABA can help. With severe autism though it is tough.

[@BrandonGreenShow]

What country? That's hectic

[@ashvathsrinath573]

@@mantis335 no shit bruh she said it herself

[@always_b_kind]

100%. I bet that's the reason for many many cases of autism, ADD, dementia, skin disorders, brain fog, anxiety and many many other ailments. I think we humans are evolving to require a lighter diet and we're not listening.

[@Sarah-Loves-Flan]

Same here actually. It sucks. Just found out

[@wendymanton5439]

I am PKU and was diagnosed at birth born 1971,I was put on the diet straight away having no protein but replacing it with a very nasty amino acid drink,I found it very had as a little girl to understand why this was happening,my mum and dad used to tell me that god had seen I was a special child that would be able to handle the challenge.It was hard for my mum and dad not just the back and forth to the hospital,but upsetting making there little girl suffer the bloods,medicine,the saying no to things at parties that other kids were eating ect...I stayed on the diet till I was 14ish were the hospital told me I could come off the diet and eat normal,the hospital visits continued.Luckily I always watched my protein intake as it had been drummed into me and at the age of 26/27 I was strongly advised to go back on a stricked diet.Through my early years I suffered with the fog and an inabilaty to consentrate,in my 20s I became very angry and aggresive and started to drink,I was depressed and agraphobic.At 30 I was diagnosed with Bi-polar due to PKU.Iwent back on the diet but found it very hard to go back to at first But I managed having 20-60gram protein per day,3 PKU sphere drinks and every 6 month visits to hospital.I dont drink any more,and have not had a bipolar episode for about 14 years,I am a little over weight with the medication but feel great,my phenylalanine levels are 720-800 which is what I try to keep them at.I do feel there isnt enough study going on about it though as it is rare,and also I think the medication should be free on the NHS for britain as it is a life long diet.

[@tehOGKev]

Are you still on the diet ?

[@rajonomistika]

I have PKU also, but at the summer this summer I had too much Phenylalanine which was 1000 when my norm is 400, was very hard for me, because no one really wants to sustain on flour his whole life and rarely on some vegan products for now my Phenylalanine norm should be good now, but it still triggers to this day that I have to suffer

[@-hasanen-8993]

Can you tell me your doctor's name and address or something online so i can find.

[@tomboyenjoyer.]

I'm a 16 year old male diagnosed with classic PKU since birth and it has taken a big toll on me and my mental health. My parents aren't the worst but when they're angry say the most painful words quoting my mother: "If you hadn't been born our life would be much easier" I responded with "It's not like I wanted to be born like that" and then she threw a fucking tantrum with "Oh you should blame me then" I haven't felt like sleeping that night. My father used to hit me everytime I ate something I shouldn't and when I was 11 he told me that mom got pregnant moment before him going to work abroad and earn more money so he decided to stay, I know he stayed because he wanted to raise me but I took it the other way "If I wasn't born they would've better life" was what I thought. Getting your feet stabbed with needle to collect blood for tests every 2 weeks gave me phobia of needles. I've had many times a lot of phenylalanine present in my blood however I don't see any intellectual losses, however I do think that sometimes I get a little "overactive' and have sudden mood changes also I'm VERY introverted, It's like I was born introverted. At this point you can imagine me and my mindset, precisely I don't want to start a family, if it means my kids are going to suffer the same way I did I'd rather fucking die a virgin, however a person which I can trust that will stay with me just for the sake of not being alone would be a light in my life, someone I can cuddle with, lie in bed and wake up to the face of that woman would be an unforgettable sight, I couldn't care less about the world around, It would be just the two of us

[@idek4376]

im so sorry that you were treated like that. you are so strong for being able to get through all the difficulties you faced, know that you are worthy and that things will get better. i wish you all the best, and a bright future with your special person ❤

[@jeffc875]

16 is tough, PKU makes it more difficult than anybody should have to go through. Just know that things will change. As time passes everything will be different. I can't predict the future, but treatment options for PKU appear bright. It's possible that within your lifetime there will be treatments that will make things very different for you than they are now. I wish you the best. Hang in there for tomorrow, your future. Often life has a way of balancing things out. You will find someone. It's hard to understand now, but your experience may shape your life in a positive way as you get older. Focus on yourself and everything will fall in to place.

[@hooriaahmed3726]

I AM SORRY

[@Dan0rioN]

Much love to you I hope things turn out for the best

[@haileycloninger453]

I am 10 but was diagnosed with PKU at birth so my mom had complications with my birth my heart beat actually stopped in my birth but luckily they found it let me just say that I may have PKU, ADHD, a little asthma, and extreme allergies I am proud to be here still i am on kuvan PKU can also make you dizzy I actually passed out last week and kuvan can possibly give bad stomach aches parents of PKU patients DO NOT GIVE CHOCOLATE I ATE A CHOCOLATE CUPCAKE AND NEARLY DIED IT WAS CRAZY SO MAKE SURE TO MAKE THEM FOLLOW THEIR DIET AND BELIEVE IN THEM💜💜💜💜💜💜

[@Hello-zf5lq]

Synlogic will come out with a probiotic that may help. Watch the market for updates and maybe it can help when it comes out.

[@angel311131]

My name is Christina, I was born and diagnosed with PKU in 1970. I was taken off my diet when I was 5 years old, only to return to it when I was pregnant with my two sons. I am now 51, and still have not returned to my diet. I have no symptoms of PKU, nor have I ever had symptoms. I was diagnosed with Classic PKU, I even had Doctors test me because they don't believe I have PKU. So the possibility is out there that you dont have to be on a diet. Im not saying it best not to be on a diet, but the possibility is there, Im living proof :)

[@Sarah-Loves-Flan]

Same here

[@pragmaticmusing6923]

dealing with headaches and malaise due to a mild form of pku, I try to crowd out the phenylanine with BCAA amino acids, and I seem to be able to deal with the headaches, insomnia and general malaise using lemon grass tea.

[@mimireuser5383]

I googled this cause I was drinking something and it said not suitable for those with this.

[@aaronman2817]

If anyone is reading this who has PKU, can you tell me if your problems started in your adult years? Ever since I was a child, I've had a hard time with eating certain foods. The issues went away until I was about 17 when my heart started beating hard and I got brain fog after eating carb rich foods, especially with meat. I'm almost 30 now, and in the last year, I've been getting symptoms that resemble just about every major neurodegenerative disease and staying away from food seems to help a lot. Doctors keep telling me they can't find anything wrong.

[@newleft2254]

Go on the Keto diet.

[@aaronman2817]

@@newleft2254 if I stay away from any and all food, I can think more clearly, have less motor symptoms, and less cognitive impairment, overall.

[@brandigaut8814]

Been taking palynziq for 2 weeks now. Been seeing good changes now. Even feel like I’ve lost weight cause of this.

[@brandigaut8814]

UPDATE: unfortunately I had to give up palynzique due to experiencing too many side effects 😭 but hope this works for other people. Hoping they can get me something else soon!!

[@1978ranger]

It sucks cus most foods we eat makes us fat so I im 14 and I got to the gym every day so I stay fit Edit: changed my age

[@brandigaut8814]

Hubert Twardowski I have classical PKU which they say is the severe kind to have. With palynzique I got more irritable, tired and lost control of bowels. Still depressed that I had to give up the one thing that would have changed my life

[@ericdarrow4243]

I’m on it I went through the trial to get it approved I’m eating regular diet now levels still good ! I’m glad it’s working for you

[@marthawaterford2883]

Just curious, so asking, what do you all think of prevglegaise, kuvan, the latest biomarin medication being tested for lowering phe levels, improving mental/physical/nutritional health freedom of pku patients ?? Have a good day Respectfully,

[@universityofkentuckyofficial]

+lucy hopp Hello. I am not sure if you read the UKNow article with more information, but here you go just in case...it has more information about the actual trials. uknow.uky.edu/content/breakthrough-clinical-trial-success-attributed-dedicated-metabolic-team-patients-rare-geneti

[@maxx.2104]

I tried it once and it didn't do much for me

[@faviolalozano7597]

I tried Kuvan and it was hard going through the trial but the Kuvan made my ph levels drop Plus made me feel great which meant I was a responder. It just depends if you’re a responder to Kuvan or not and if you are it is amazing results when you take it

[@jacobdeaver4884]

It works, trust me

[@vickybarb8799]

It really helped my phe levels. But I have a mild case so I think that’s why it worked so well

[@loublase8916]

my son was born in 73 and has PKU. I was told that it was safe to take him off the diet when he was 5yo... He has been off diet since then and seems to do well..

[@sashayekani6268]

sorry i cant belive that

[@jacobdeaver4884]

I went off diet at 12 and I can assure you that even though I was full in functioning I did not function at my highest level possible

[@djmaydraws3862]

Ive been off diet for over 15 years and i have yet to demonstrate any symptoms including mood swings, seizures or slowness of mind

[@sashayekani6268]

it doesn't matter how long you have come off your diet, it matters at what age you come off (if or not you have fully developed cognitively to full capacity) aswell you could have slowed down and just not realized.

[@loublase8916]

He was under the care of the state CDC in Memphis, TN and they are the ones that took him off diet. His first cousin was untreated PKU, older and he was completely non functioning.... died of complications... He does have mood swings but he holds down a job and has a family. He went back to CDC a couple of years ago but would not go back on the diet..

[@elizabethdances8710]

Been taking kuvan for 10 years. I don’t regret it

[@Mosenter]

Been having it for 2 years and I live in Sweden, where do you live?

[@dan-io1do]

Been taking Lucan for 5 years lol

[@elizabethdances8710]

@@Mosenter Sorry, I don’t share my location due to safety concerns

[@elizabethdances8710]

@@dan-io1do Best thing ever! Saved my life practically. I was a baby when I first took it

[@fionahasanaj3180]

Been taking it for 5 years.

[@jowilliam2464]

its not a disease its a disorder

[@universityofkentuckyofficial]

Thanks for the clarification with the title.

[@pinkponysloveyou9809]

Can I just say I have PKU and IT IS NOT A DIEASE ITS JUST A CONDITION PLEASE DONT MAKE ME MAD!

[@universityofkentuckyofficial]

Thanks for the clarification with the title.

[@haricapra6886]

I agree. I have pku and have always hated hearing it referred to as a disease. I'm proud to have pku and feel likes it adds to my life at least as much as it takes away.

[@franknstein5376]

Sorry if I offend you in any way, but how is it not a disease? It is a caused by a genetic mutation, and if not treated results in sever retardation an ultimately death by 30 years of age. Just because now medicine has made such progress that people with it can live normal lives, it doesn't mean that it is not a disease. With the same logic asthma and other chronic diseases wouldn't be considered disease either. What's wrong with having a disease? Edit: I tried to look for the meaning of the terms and found these www.healthwriterhub.com/disease-disorder-condition-syndrome-whats-the-difference/ www.quora.com/What-is-the-difference-between-a-disease-and-a-disorder-a-condition-and-a-syndrome medical-dictionary.thefreedictionary.com/disease medical-dictionary.thefreedictionary.com/disorder May I ask you (agai, I'm genuinely curious) whether you don't like for it to be called a disease for the implication that you are ill=not well, while you actualy can lead a semi-normal (I write semi- just because of the dietary restraints, which anyway anyone could have) life? I'm a medical student, and Ii study (and use) these terms with respect to the use we make in our practice; that said, I wouldn't want to offend/upset a patient or their family. Sorry for the long response, and I apologize if there are mistakes in the message (engligh is not my first language). If you decide to reply, that you in advance!

[@Evan-10000]

I think of it as a disorder rather than a disease , I struggle to concentrate or even just to stay interested in something because of it.

[@vickybarb8799]

Frank'n'Stein it’s not a disease but it’s classified as a metabolic disorder

[@meganharriman4059]

I have PKU 🙂

[@universityofkentuckyofficial]

Hello. Here is a little more info about this from our UK news site: uknow.uky.edu/research/breakthrough-clinical-trial-success-attributed-dedicated-metabolic-team-patients-rare. Hopefully the info may help you in some way.

[@deadunity2242]

Megan Harriman I hove pku to

[@deswilliamtilley7605]

Megan Harriman I have pku , it fucking SUCKS

[@faviolalozano7597]

I have PKU as well

[@karina2k8]

So do I!

[@marthawaterford2883]

These nice people are as entitled to freedom, independence, dignity, fun, friendships, healthy tasty affordable food and water, housing, good behavior getting good results, lots of fast affordable mass transit like subways trains etc, science, fairness, pragmatism, health, compassion, good jobs, meaningful work, upward mobility, to know good behavior is never punished and bad behavior never rewarded. But sometimes pku patients, autistic aspergers syndrome, Williams syndrome, like down syndrome, mild hypomania, bipolar, are forced into dependency, oppressed, controlled and disregarded by their "advocates" " doctors teachers psychiatrist " etc, , . So wishing us all the best & :-) $ ; ,

[@billyhuddy]

I have PKU

[@leekennedy8137]

I'm just saying I have pku and I have to drink them

[@Siyal8rB]

Me too, I don't like it though

[@MsLegacy999]

@@Siyal8rB Dude they are disgusting, thank god i dont have to drink them anymore.

[@Siyal8rB]

@@MsLegacy999 you're so lucky i hope to get off it soon

[@dragz583]

@@MsLegacy999 I drink choclate milk foremala

[@michealgrahammalcom2633]

Do something like call kelly

[@suziemacarthur9045]

It is not a disorder it is a diet and it really hurts when someone says it is a disorder because it is not it is a diet and to bad if you don't like it because that is who we are and no one can change it

[@lenadesu2544]

People follow a specific diet in order to avoid the symptoms and complications of PKU. PKU ain't a diet.

[@vickybarb8799]

It’s not a diet. The treatment for the metabolic disorder is a special diet. It’s genetic. It’s classified as a genetic metabolic disorder