A PKU Story | Phenylketonuria treatment -musings of a dinosaur
Disclaimer: The information presented here reflects my personal experience with phenylketonuria and my own research. It is not a substitute for professional medical advice. Always consult a healthcare professional before making any changes to your diet or beginning an exercise program.
Health Canada finally approved PTC Therapeutics’ Sephience in October 2025, a very promising treatment that has already proven itself and has the potential to improve the lives of people with phenylketonuria. But nothing is certain yet!
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There is no guarantee that it will be made available in all Canadian provinces. It is therefore essential that we share our experiences with PKU, describe our daily challenges, and, above all, explain how Sephience has the potential to significantly change our daily lives. To this end, I invited several members of the community to send me their testimonials. Today, I am sharing Maria’s story with you.
My PKU clinic appointment is coming up soon and I have a lot on my mind. Coincidentally Tristan here was calling for a testimonial about challenges of phenylketonuria and how Sephience would improve that. Well I guess I would seize this opportunity and share my thoughts on this. As I have quite a bit to say and even more on my mind. You see I belong to the “dinosaur generation”. With well over 40 years of experience tackling PKU day to day. So, grab a cup of coffee, or tea, or formula and take some time to listen to what this dinosaur has to say.
I live with strong belief in the power of scientific progress, while I am a classic PKUer so nothing other that classical diet helps me personally. Is there a hope for the bright future? A dream of a magic pill that will one day come and cure it all like a Disney fairy? No. Over the years I have become progressively pessimistic about my own PKU outlook, and it happily co-exists with belief that scientific progress brings us hope and opens new horizons.
You see, I have learned that progress takes time. Great discoveries happen in university and clinic labs. There are scientists who really do care about odd little kids with musty odour and odd delays in development. However, there is a time gap. For example from first talks in the North American PKU community about GMP as a brand new formula for PKU to actually having that formula available to taste at the clinic a decade has elapsed. Virgina Schuett wrote about it in the 90s. We did not get to taste it until early 2000s.
Lately several of dedicated pharma companies decided to tackle the issue of lowering blood phenylalanine levels. Some trials were stopped, some failed, some succeeded. The first breakthrough was Kuvan – a tablet form medication hat helped some PKUers to activate the enzyme. Some but not all. Some were able to liberalize their diets to almost normal range, while others are still on very restrictive diet plus formula plus kuvan. For me this treatment did not work.
Then came along the Palinzyq. An injectable treatment. For many it has become that magic bullet – you eat want you want, take a shot, you’re good to go. For some it was the solution to all the problems. For me – I was concerned about the numerous nasty side effects that happened to pretty much everyone who took this medication. Unlike GMP this medication was approved quickly, but by this time I have spent enough time working in scientific research that I made a decision for myself. In the end I have refused this treatment option because while these wonderful discoveries were made and became available I have managed my diet (I never went off it), got married and gave birth to healthy children. All this to prove that I am capable of handling my diet. You see, we, the dinosaurs, we were trained from childhood to see PKU as a lifestyle not a diet. And to switch from just limiting food intake and drinking finally good tasting formula to doing injections 3-4 times per day – that would make me personally feel as if I am turning from a normal me to a very sick me that needs a lot of daily medication.
Now comes Sephience. I have read about it. As much as any other PKUer with a glimpse of hope deep inside that perhaps this is finally my magic bullet, I contemplate how it will complicate my life? Would it work for me – a classic PKUer? Would OHIP or insurance cover it? Would I get tired of taste of apple juice taken very day 3 times a day for the rest of my life? Would I be able to handle this medication while travelling (while formula only needs clean potable water, available anywhere I understand things are more complicated with Sephience). Would postal strikes or tariffs or some emergency at the manufacturing plant affect the supply of this medication? I have lived through all of these events and I must say I do not wish to be stuck in such situation again where I have no alternative to my medication available when supply runs dry.
In the past I was quite optimistic and enthusiastic about trying new things in PKU world. I hated the taste of my formula and GMP formula changed my world. Now as I grow older, I am more careful weighing in all the pros and cons and possible benefits and disadvantages to rocking my current boat.
I do still look with hope into the future and keep an eye on the advance of the scientific progress but I am more and more cautious and sadly pessimistic as to what my choices are in reality. Time goes by quickly and I feel that I have less and less time for futuristic optimism, waiting for the magic to happen, and should perhaps just stick with what is currently working for me (and has been for over the past four decades) and just be happy with what I have?
Let’s make our voices heard loud and clear
Even when treated with a low-protein diet, phenylketonuria remains a daily challenge: it affects every meal, every decision, every moment of freedom. However, Sephience offers solutions that could lighten this burden and give us back control of our lives.
If you would like to add your testimony to this campaign, please feel free to send it to me. Every story is important. Otherwise, simply share this article to spread the message.
Many thanks to Maria for her testimony.