40+ Years with Phenylketonuria (PKU)
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- Опубліковано 13 жов 2023
- I've lived with Phenylketonuria (PKU) for just over 40 years, this is my story.
PKU is a genetic disorder that affects the body's ability to break down an amino acid called phenylalanine. The primary treatment for PKU involves adhering to a low-protein diet.
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Special thanks to Kevin Alexander for being an inspiration and documenting his journey with PKU for the past 11 years.
Link to his video & channel: • My PKU Life
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Do you want to know if we can be fit & strong with pku?
Check out my other video: • Can we be fit & strong...
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Follow me below
Instagram: / richard_fitpku
UA-cam: @Richard_FitPku
#phenylketonuria #pku phenylalanine #raredisease #kuvan #metabolic #mylife
Thanks for sharing Richard..... Great to hear your story!! Am Also a PKUer (and never attempt the full pronunciation lol😊) in my 40's now myself and grateful more than ever of the support surrounding living a healthy pku life. I do struggle with anxieties though and am getting into more disciplined diet recently hoping that addresses the matter.... look forward to tuning into your future vids 👍
Yes, the diet is not easy and I'm lucky I have a higher tolerance than most. I think we all get anxiety, even if it is just from planning every aspect of foods we put into our mouth every day, never mind every thing else the diet brings along with it. I know other people suffer with it much more just from planning food though. I think it all starts with the diet, being better with it has helped me 🩷
Hi Richard seen ya link in fb for your youtube great to see other pku people I'm 51 with classic pku In Staffordshire England there not many around I always felt alone growing up but not it great to see other pku people doing great 👍
Your about 2 - 3 hours away from me. Will you be at espku? If so, I might see you there 🙂 Yes, I never came across above with pku when i was younger.
I have just come across you videos... i have a 7 year old daughter who is doing fab. From 6 exchanges to 16.5 with sapropterin. 🙌
What a great increase to have, i bet it has opened up soooo many options for you 🩷
Thank you Richard. Do you have classical PKU? Your initial tolerance before Kuvan has been pretty good. I have a 17 months old boy with PKU and it has been a rough ride so far. Still not sure what his tolerance is. Doctor is claiming he is classical.
Hi, no i don't think i do. I'm very lucky with my tolerance. Before kuvan it was at 19g food. That's higher than most so I'm very grateful.
Hi Richard My name is Carolyn I too was born with PKU. I am in New Zealand. I have not been on any diets we also dont have access to the drugs you are able too. I too am 40+
Carolyn
I hope medical treatments become available for you soon. We have had treatment for my whole life in terms of following a low protein diet (which also involved low protein medical foods and formula drinks), but in the last year Sapropterin was approved also.