Відео

As an adult with PKU and no insurance, how can I get help? I'd like to try kuvan if that is still a thing?

This study ist not for patients at my age. Are there other studies for adults planned?

This is processed trash food!

As a lady who has Classical pku, I want to see more treatment options in Canada

This is all loaded with additives and sugar

I’m crying great

Me my Twin brother and my mom got pku I have good job but I off my diet now I'm mantel handicap but u son followed the pku diet he be smart

Very good video, thank you!

Turkish leanguage please

Turkish leanguage please

thanks pku for yes❤❤❤

and Dr. Richard Koch, my father!!!

good to see Jean Koch!!!(my mother😮!

I have classical pku, late diagnosed by 2 weeks. I have to weigh and measure everything. What i hate most is the tiny portion sizes- 1 ounce of meat at lunch and 1 at supper.

Hi; this registry is just for citizens of the USA, right?

🙏

At home Phe test is not available now for Pt's correct?

My name is Steve and I would like to know where Texas stands being republican? Thx

I have had genetic testing to find out what is going on in my head, nothing! 🤣 Dr Koch was my Dr. and was a very caring man. He tested me and what I remember is I have a severe and a medium mutation. This was approximately 10-15 years ago. Do you suggest being retested in regards to gene mapping plus other advancements?

please help me guys my elder brother are also survive with phenylketonuria diseases. he is 35 years old

Fact-checking myself! (On-stage nerves got the better of me.) We met with *McGovern's* office - (not McConnell). McGovern is one of the original sponsors of the bill this congress. And as of today, we have 94 cosponsors in the House and 22 in the Senate for a total of 116.

Been off Diet since age 6 and never went back........I am 46 years old and a solid productive member of society, workforce and family. I am a college grad. I have been in transportation management for over 25 years. I have reached many goals in my life and continue to do so.....i have had very little effect from my PKU....My Phe levels run in the mid to upper 20s last time I had them checked, which was sometime around 2012-2014

Thanks for sharing!

I love David’s story and mine is much the same but I was caught by newborn screening. My social situation is critical and severe in my case at this time. I’m interested in retuning but I have a lot of big issues that restrain me from returning to care however I do see the huge need for it. I wish I could talk to David further!

I have pku. I Run my own mobile detailing biss. i got Off diet at 19 I am now 33. I eat about everything but try to limit myself with Portions. Now Stumbled on this video looking how I can gain muscle safely? is it even possible 😂 I don’t know but always Wondered?

Y es, please create more videos on this subject.

I do have PKU not on any diet im 52 and looking to start a cleaner diet (low protein) and if i had a shopping list to go from it would change my life.

i love your video. but im looking for a low protein shopping list for like publics or walmart.

I have PKU. If I could I wish I could tell these parents and children that having PKU does not and should not stop you from achieving your dreams and goals in life. I was diagnosed with classical PKU at one week old. Three weeks ago I turned 26. In my 26 years in life I have accomplished everything I have wanted to, and having PKU is the least interesting thing about me. I am in my second year of a PharmD program at the University of Utah. I have competed in high level competitions in equestrian sports, and I have tried to be a kind and caring person to those I meet. While finding a cure is so important, I just wish I could tell those worried parents out there that living a very fulfilling life with PKU is possible. I'd be lying if I say that it has always been easy. Have I struggled with high phe. levels, anxiety, depression, scary M.R.I findings? I sure have. It isn't easy. Then yet again, everyone has their own individual challenges. I guess the biggest message I'm trying to convey is that at some point we decide that it WILL NOT define us. It becomes "the way it is" at some point, and you find meaning in so many other things in life. You learn to cope with what your normal is, and prove to yourself that what you eat makes you no less of an individual than the next person.

All very interesting.I am 65 and have PKU and i wonder why is it that no research has been done on PKU and the menopause?I also think that if you have PKU and the menopause, it could be that maybe your PHE levels might be affected by the menopause and not nesseraliy due to poor PHE control!!! Might be worth carrying out research on this. After all the menopause and PKU are metabolic problems.Would be nice to see what everyone else thinks?

<3

I have pku 😌

I have pku, but I don't have a job so I can't buy Formula. My life sucks

When is gene therapy for color blindness avaible? I think it is the most soght gene therapy on this planet. It affected over 300 million people and we lost our dreams and we also have been waiting for it for so long time. It was claimed that could cure red green color blindness in monkey in 2009, but till know we dont have clue when it is approved in human trials. We hope you proffessors, doctors, biologists and all of medicine expertises., please give us a miracle and spirit when we open our eyes in every morning🙏🙏🙏😭

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.

Me 3!

If you want to study brains with PKU and hear our life stories on how we feel when levels are high,come and talk to the horses mouth.I feel there are a lot of PKU patients that would love to help me being one just please get in touch.And i have to tell you yes it does effect our mood consentration and mental health no question.

You Parents and Children are so brave! Thank you for telling your stories

my sister was born with PKU.

Pls upload more videos..thank u..

Me too

I certainly think it should be and I hope it happens good luck getting it done

I have PKU

Thank you for improving the lives of my two PKUers every day! I don't know what my family would do without the support of this amazing organization. Happy anniversary, National PKU Alliance!!

I'm 48 (born before testing started) and had a lot of health problem (behavior, neurological etc.) but seven years ago, I change my diet and by experiments found out that the way my brain works was very linked to the protein I ate. With this new diet, I got back my brain, I would say, I'm nearly not asperger with mood disorders anymore; I'm not physically suffering anymore, I think much better and even my consciousness has changed. 3 years ago I did a genetic test from United States (i'm french) I needed some time to learn but there was a lot of explanation and one of them is PKU. I recently went just a little off this very strict diet and felt I was again and fast loosing my brain. I did a blood test and Phe was too high. So I would say, at least some of the issues are reversible. I'm happy there is some researchs and thanks for sharing

YES IT'S REVERSIBLE! I have classical pku and have been receiving treatment for the first time in 15 years. I can say with 100% positivity that yes some issues and problems are reversible.

only 20 subjects? really? Feel free to pick my brain literally and figuratively

Interesting, but I wish they had used older subjects. If they want to do studies with older people who were off diet for a long time time, contact me. I'll be happy to be a test subject.

This boring

Thank you for this video. My 2 youngest sons (10 years old and 3 months old) have PKU. This is helpful for them to see that others have PKU as well, we have yet to meet anyone else (close enough) with pku for them to have a friendship with. My 10 year old feels quite lonely and alienated quite often. May I also add, if anyone in San Diego area has a child/children around 10 years old with PKU and would be interested in the children having each other as friends and support, we would be most appreciative. Please feel free to respond. Thanks.