malhen.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

One phone call, one diagnosis, and suddenly, the healthy child you just brought home from the hospital is facing a lifelong battle with a rare genetic disorder. Read Iza's story when her son was diagnosed with PKU. #shadesofpku #IPKUDAY2025 www.linkedin.com/posts/espku_...

submitted 2 days ago • 0 comments

Day 2 of #shadesofpku for #IPKUDAY2025: A PKU diagnosis deeply impacts parents & siblings. Parents face anxiety; siblings' needs are often missed. Much inaccurate PKU info online! Act to correct it! Patient groups offer crucial support. All family members need psychological care.

submitted 5 days ago • 0 comments

Day 1 of #shadesofpku: Newborn Screening! 👶🔬 Robert Guthrie developed the first #PKU blood test in 1960. Early detection prevents disability & saves costs. Not all European countries screen for PKU-this is an #pkuunmetmedicalneed. Screen all! Screen refugees up to age 6. #IPKUDAY2025

submitted 9 days ago • 0 comments

This document is very important for people with PKU and for professionals taking care of PKUers. It also should be important for all decision makers regarding reimbursement of PKU formulas and low protein food.

submitted 25 days ago • 0 comments

So last weekend I was in the beautiful Eindhoven, Netherlands and #psveindhoven won! 👏 I've heard they really needed it and today I see they lead the Eredivisie! Congratulations! 👏 Hope they win it this season! 🤞

submitted 25 days ago • 0 comments

Taka refleksja w związku z kampanią wyborczą. Uważam, iż powinny być wymogi dla kandydatów na Prezydenta RP wykształcenie wyższe, znajomość języków obcych: język angielski obowiązkowo, wysoki poziom kultury osobistej, nie sprzyjanie obcym państwom.

submitted 25 days ago • 0 comments

I'm looking forward to working with Lars!

submitted 39 days ago • 0 comments

PKU is often blamed for things it's not responsible for. In #pkulifestories Tobias Hagedorn clears up a one of these misconceptions 🎙️💡 Watch the full interview ▶️ youtu.be/cV1a5_mHyeY?...

submitted 41 days ago • 0 comments

📢On June 1st, 2025 on the occasion of #IPKUDAY2025 we'll launch of 'Shades of PKU' campaign! It'll show all shades of living with PKU + unmet needs of patients with PKU. #shadesofpku Use #IPKUDAY logo in your publications: espku.org/projects/pku...

submitted 43 days ago • 0 comments

Any ideas on what's coming? 🤔🧐

submitted 49 days ago • 0 comments

We take so many things for granted and it would never cross our minds that that something would stop being available. Newborn screening safes lifes and changes it for the better. I stand with the USA PKU Community and hope things will be better soon.

submitted 55 days ago • 0 comments

The quality of care of adults with PKU is different from the quality of care of children with PKU. The quality of care of adults with PKU varies throughout Europe. Adult life with PKU has its challenges and we need adults to tell us about them and raise #adultpkuawareness

submitted 55 days ago • 0 comments

Congratulations Kirsten‼️👏🥳 It's wonderful that you're part of our community‼️Your dedication is inspiring and you're wonderful human being‼️😘

submitted 70 days ago • 0 comments

Yesterday's meeting for adults with #PKU in Cracow was great! Interesting lectures by our doctor and dietitian and cooking PKU versions of Polish Easter dishes proved it can be easy, joyful and tasty! #adultPKUawareness

submitted 72 days ago • 1 comment

If you haven't filled out EU survey on #rarediseases do it now! Deadline is 31st March 2025

submitted 73 days ago • 0 comments

submitted 82 days ago • 0 comments

📅 March 29, Kraków – 1st ever #PKU meeting just for adults! What’s planned? 🔹 PKU doctor & dietitian lectures 🏥 🔹 Easter cooking workshop 🍽️ 👨‍⚕️ Organized by: The Adult Metabolic Clinic of the University Hospital in Kraków & Vitalfo. #adultpkuawaremess

submitted 83 days ago • 0 comments

What a brilliant interview! If you missed it find a time to watch it. It's soo worth it! #pkulifestories

submitted 89 days ago • 0 comments

The interview with Tobias Hagedorn premieres tonight! Set a reminder as you can't miss it! #pkulifestories

submitted 90 days ago • 0 comments

New interview filmed for the #pkulifestories premieres on Wednesday evening. You can't miss it! Go to the link below, set up notification and see you on Wednesday at 20:30 CET.

submitted 92 days ago • 0 comments

EU Parliament is reviewing many regulations including those relating to the rare diseases. Their final shape will influence the lives of ppl with #PKU that's why it's so important for the entire PKU community to participate in this survey! Be heard! Fill this survey now!

submitted 95 days ago • 0 comments

Today I've had my first visit at the adult #PKU clinic. The professionalism and enthusiasm of doctor and dietician is very refreshing. I've had comprehensive tests so I know the condition of my body and whether I should take any additional supplements. #adultpkuawareness

submitted 96 days ago • 0 comments

The nominations for this year's Sheila Jones Award are open. Don't be afraid to nominate a candidate. Go to the dedicated link which you'll find below, submit a nomination and tell us this person's story.

submitted 97 days ago • 0 comments

Dear Volodymyr Zelenskyy, dear Ukrainian friends, you are not alone.

submitted 102 days ago • 451 comments

Happy Rare Disease Day! 💜 Wszystkiego najlepszego w Dniu Chorób Rzadkich! 💜 W Polsce z chorobami rzadkimi zmaga się dwa miliony ludzi. Należy zapewnić im jak najlepszą opiekę medyczną, dostęp do najnowszych metod leczenia oraz wsparcie finansowe oraz społeczne i wytchnieniowe.

submitted 102 days ago • 0 comments

He'd be 38 years old today....😞 It's such a hard day. He left, we've stayed....

submitted 105 days ago • 0 comments

Panie i Panowie! To jest najprawdziwszy rarytas #PKU I am sure I am not alone when I say this that I would love to be able to listen to those tapes! Wow! Just wow! @espku.org

submitted 105 days ago • 0 comments

When I was little 'Adventures of the Gummi Bears' was popular in PL & they had a Gummiberry Juice thx to which could jump very high. Some parents use similar story to explain why kids with #PKU have to drink a special Formula. #pkulifestories

submitted 107 days ago • 0 comments

It's visible how the approach to the children has changed over 30 years. Every child is different and their parents need to adjust the way they communicate certain things especially if that child suffers from a rare disease that requires strict medical nutrition therapy. #pkulifestories

submitted 109 days ago • 0 comments

Propaganda rosyjska wydaje się być esencją portalu X. Obrzydliwe zakłamywanie faktów jest tam tak agresywnie serwowane, że gdy je kwestionujesz, a jesteś kobietą i na dodatek wylewa się na Ciebie taka ogromna fala hejtu masz dość. Naprawdę mam inne ważniejsze rzeczy z którymi muszę sobie poradzić.

submitted 109 days ago • 0 comments

That's how everyone's PKU journey begins. It changes lifes, family's dynamics. #pkustoriesfamily

submitted 110 days ago • 0 comments

Interview with Andrea premieres tonight at 8:15 pm CET. You don't want to miss it. #pkulifestories

submitted 113 days ago • 0 comments

When peers teased Florentina about her Formula she said 'take a sip' + explained what Phenylketonuria is and that helped. It didn't work in my case, but it's a different and more complicated story I am not ready to share it just yet. #pkulifestories

submitted 114 days ago • 0 comments

I know Florentina's mum. She's wonderful! The wisdom shines though the advice she have her daughter on how she should perceive her #PKU #pkulifestories

submitted 117 days ago • 0 comments

This is a Call to all professionals working in the field of #PKU, students who work in their PhD and work in the field of PKU. Submit your abstract for a chance to present it during the oral presentation at the E.S.PKU professional meeting, on Friday, 26th September 2025.

submitted 119 days ago • 0 comments

Dzisiaj rozpoczynają się #InvictusGames2025 w których po raz kolejny uczestniczy również drużyna polskich weteranów, za którą mocno trzymam kciuki! Więcej o nich przeczytacie na oficjalnej stronie Igrzysk, których założycielem jest Książę Harry www.invictusgamesfoundation.org/invictus-com...

submitted 122 days ago • 0 comments

#InvictusGames2025 begins today! I am holding my fingers crossed for #TeamPoland!

submitted 122 days ago • 0 comments

My late brother had Phenylketonuria and was battling pancreatic cancer so I have experienced what his #PKU care looked like. He was treated because of his PKU at Children's Hospital. We must think of improving PKU care when a patient has cancer.

submitted 126 days ago • 0 comments

I was very surprised to read on Bluesky today that the @espku.org should align to something. E.S.PKU is an independent organisation working with many experts in the field of Phenylketonuria. Suggesting that E.S.PKU should align to anyone and anything is inappropriate.

submitted 127 days ago • 0 comments

It's been 2 months since my brother's passing. Today was a bad day for me.

submitted 128 days ago • 0 comments

This is the official Bluesky account for the International PKU Day. Follow this account not to miss anything related to International PKU Day. It's the first place to find news regarding this special day for the entire PKU community.

submitted 128 days ago • 0 comments