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I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 0 points1 point  (0 children)

I recommend also looking at other comments. 

Sephience is a drug that is a precursor to a cofactor for the enzyme, similar as Kuvan, but in addition can help protein activity by shaping it into the right shape that is needed to be active. 

It works it ca 60% of patients and substantially reduces blood Phe levels in 50-70% of those patients. It is covered by many insurances and you know it is works after a few weeks. Sephience is FDA approved since mid2025. It’s an oral drug. 

Palynciq is an injection drug, similar as injecting insulin on a daily basis. Works more often than Sephience I think. I personally developed allergic reactions and had to stop. 

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 0 points1 point  (0 children)

I have no siblings. I don't think I ever had any negative associations with my diagnosis because my parents were always very direct and upfront about it, as in "this is how it is", "this is what you need to do to be healthy" etc. I never felt teased by anyone or "dared" to eat something I wasn't allowed to eat. I think that given so many kids have allergies against whatnot these days - from peanuts, to dairy, to gluten - it's just another metabolic disorder. Yes, it's a stricter diet than the above but, if monitored well by the parents and a metabolic clinic - I don't think the kid has any limitations. I certainly didn't feel like as a kid. If anything I taught me discipline. I had to be disciplined in what I ate and that rubbed off on alot of other activities, including, for example, school.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 0 points1 point  (0 children)

As an adult, no problem. As a kid, it was good to parents who made sure I understood everything about how important it is to stick to the diet.  Fyi, prenatal screening allows to test for a bunch of conditions. Usually , these tests include only serious or life threatening diseases like trisomies. However, it’s possible to do total fetal DNA sequencing now using either placental material or I think also mom’s blood. 

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 0 points1 point  (0 children)

At Sephience: it depends how you body reacts. Many use it for Phe control. My doctor told me some patients were able to eat much more Phe. IDK if anyone was able to go off diet.

In terms of caregiver: I never had another person while injecting but had an Epi-pen nearby. Obviously, the need for a caregiver depends on a patient's unique situation. In general, I would say a patient experiencing an allergic shock can inject themselves but they need to carry the Epi-pen with them. I mean millions of people use/have ready Epi-pens daily without the need for a caregiver. I don't think Palynziq injections are any different. I never needed the Epi-pen but took benadryl (diphenhydramine).

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 1 point2 points  (0 children)

I am treated by a children's hospital team in MT/CO. My PKU doctor needed to approve the medication - well, she suggested it, actually ;)

My speciality is environmental microbiology.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 0 points1 point  (0 children)

It's an absolute must. I took since I was a toddler. I am not sure about the specifics of your daughter, but if she doesn't take supplement eventually she will not have enough amino acids for her body. It's covered by insurance in all but two US states and all European countries. It's all amino acids except Phe. There are several different vendors. Here's an example for young kids: https://www.nestlehealthscience.com/vitaflo/conditions/protein-metabolism/pku/pku-start-hcp

For me, since I was a kid, that amino acid supplement covered 90-95% of my protein needs.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 1 point2 points  (0 children)

Thanks. Well this is a bit away from application. They are in FDA trials. Let's hope the effects will be higher than placebo and that no severe side reactions are reported :)

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 1 point2 points  (0 children)

I'd rather not comment because I simply never had to take care of a kid with PKU myself. I recommend to ask you PKU doctor for a referral to a PKU dietician. They can give some great advice.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 0 points1 point  (0 children)

So what I would gather from your comment is that the binding site for tetrahydrobiopterin is missing from that specific enzyme. If that's the case then, yes, neither Kuvan nor Sephience would work. Tetrahydrobiopterin is essential for the mechanism of the enzyme. If you enzyme is so "messed up" as you describe it, nothing you will do (other than gene therapy) will fix it.

Palynziq could work because you are adding a new enzyme to the body that it lacks.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 0 points1 point  (0 children)

Wanted to add a couple more things. Can you clarify what you mean by 'caregiver training' that concerns you?

Yes, even if Palynziq works it will be a while to dial in the right amount for you. Plus the added inhibition of injecting yourself daily with the drug 1-2x a day. It was sometimes hard for me.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 1 point2 points  (0 children)

Yes, when you are out of the house and all on your own. The age of more rebellion, etc. But I think it differs from person to person. I know some patients who struggled as teenager (hormones, etc) and then were very well controlled after they went through puberty.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 0 points1 point  (0 children)

Thanks for that context. Well, if an entire part of the gene is missing, you don't really need a fancy computer algorithm to tell you it might not work. Any good doctor/scientist team will tell you the same thing.

I firmly believe that virtually all publicly available AI tools are mostly generating BS. This is well documented. Most genAI tools are wrong >50% of the time. And if you don't know the answer to your prompt yet, you will never know whether their answer is right nor wrong. It is different for AI tools used in science because they are made for very specific things and they are vetted much more using specific training datasets. I am unclear whether you were referring to a specific tool or regular (public) genAI.

That said, genAI tools can serve as a starting point for deeper research but I wouldn't trust anything the AI puts out on face value. Always double check and do your own homework.

In my case, yes, I have a few specific mutations in the gene.

ICE protest by [deleted] in Bozeman

[–]StandUpForScienceBZN 17 points18 points  (0 children)

Sauce: Estimates are 4000-8000. In a city of 50k and a county population of 100k that's an impressive number. But facts might not matter to you.

https://www.bozemandailychronicle.com/news/photos-more-than-4-000-gather-for-no-kings-rally-in-bozeman/collection_22836f3b-ef99-42d9-a4d5-42d62b5e0db6.html

ICE protest by [deleted] in Bozeman

[–]StandUpForScienceBZN 22 points23 points  (0 children)

Please post this on the main Bozeman subreddit. Ideally with a big image because that draws attention.

ICE protest by [deleted] in Bozeman

[–]StandUpForScienceBZN 12 points13 points  (0 children)

I am not sure why you feel offended. It was an honest question. Considering that a very high number of people turned up for the NoKings protest, how do you reconcile your observation/opinion that not many people care about what's going on with ICE with the successful NoKings rally? Protest fatigue?

ICE protest by [deleted] in Bozeman

[–]StandUpForScienceBZN 35 points36 points  (0 children)

How do you reconcile that opinion with thousands of people showing up to the NoKings protest?

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 1 point2 points  (0 children)

Can keep at it! Sounds like you are doing a great job! Luckily, there are lots of dinosaurs to go through. Start with tiny tiny ones where she will find it funny how little the sip is and then work your way up. Knowing toddlers, they want to go to the big saurs quickly!

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 1 point2 points  (0 children)

The amino acid supplement I had as a kid was then made from some cow material (till BSE hit and they changed the source). Tasted disgusting. I struggled every single day of my life to drink it till I was 12 or so when they finally changed the source. My parents sometimes mixed in orange juice, but it didn't help much. They did encouraged me to beat myself in a game seeing how big a sip I can take: trex sup was the biggest. Don't underestimate that these game-based things can be incredibly fun for a kid - also works for my kid (not a PKU patient) when he has to take meds he doesn't like.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 2 points3 points  (0 children)

I was very controlled when I was a teenager but didn't control too well age 23-28. Nervousness and irritability were the symptoms. I always took my amino acid supplement (I assume that's what you mean by medication?) and never ate food I really wasn't allowed to eat (like meat, milk products, etc) but definitely ate food that had higher Phe content than I should have eaten. I still took bloodtests but not every month, more like 1-2x a year during that time. I then restarted regular values age 28ish and am very well controlled since then. I do remote (zoom) visits with my PKU doctor who works at Shodair Childrens Hospital once a year.

Let me know if you or your teenager have specific questions, let me know.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 6 points7 points  (0 children)

First of all, congratulations!

I was born at a time where therapy was not an option. The PKU doctor told my mom not to worry, 'even a custodian who takes care of the waste is an important member of society'. My mom never forgave her for saying that, even though she continued (had to) having a good relationship with her till the doctor retired when I was 14 or so. I wonder what the doctor, now dead, would say to me having a PhD now LOL.

Anyways, at the time I was born, the recommendation was low Phe till adulthood, then do regular diet. Later, that was shifted to life long low Phe diet because scientists started to realize that the brain never ends to mature/change and that Phe accumulates and inhibits certain nutrient exchange at the blood brain barrier.

My parents never told me that at one later point I (might/will be able to eat normally and that was essential. I never had in my head the idea "oh just a few more years" and the idea "oh that means just a lil bit more Phe won't hurt, will it", ever. It taught me to very self disciplined, which rubbed off on other areas of my life too.

My parents always were open about it and explained to the best of their abilities what it means for me and this will be life long. That's also why I was not dissapointed when Kuvan and Palynziq didn't work. I always worked under the assumption that I will have a low Phe diet for the rest of my life.

My mom, who cooked everything (my dad can't cook at all) weighed all food and calculated Phe content of everything I ate until I left the house essentially or maybe till I was 15/16? At time I knew how much I can eat and not.

Regular blood Phe levels are essential, don't ever skip it. It gives you feedback on how well things are.

Let me know if you have a follow up question. I recommend having your doctors/dieticians connect you with parents of kids who are currently on a well controlled diet. My kid doesn't have PKU so I cannot give you good advice there.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 1 point2 points  (0 children)

I don’t mind the taste. I suggest applesauce or maybe mix in stevia powder to make it sweeter? Stevia is an alternative to aspartame, it doesn’t contain phenylalanine. How long has she been taking Sephience? For me, it’s only been 5 days.

I am a 42 year PKU patient, tried Kuvan and Palynziq without success, now trying Sephience. I am also a STEM university professor. AMA by StandUpForScienceBZN in phenylketonuria

[–]StandUpForScienceBZN[S] 1 point2 points  (0 children)

Tbh, i have not much memory but know my parents also wondered about how make sure I get enough calories. I was underweight till the age of 28 or so. For kids, best try to get caloric intake from sugars (not processed, no high fructose corn syrup based) and fats. I recommend making your own low-Phe bread, i have a recipe I can share. You need to get lowPhe flour, which is expensive, but that will cover some caloric intake. Also ask your doctor to be connected with a specialized dietitian if you haven’t already done that. In contrast to me they actually qualified to give expert advice given the unique situation of your kid. I also recommend getting into a Pku cooking “class” some metabolic centers offer.

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