I will share my experience of genomic testing for #Sapropterin (#Kuvan) with health professionals in:

Our Voices, Our Stories: Lived Experiences of Genomic Testing

This free webinar will share unique and impactful stories, and will provide powerful insights into the human side of the genomic testing process.

Open to patients, health professionals, and any interested party.

Find out more at via QR code or https://www.tickettailor.com/events/nhscentralandsouthgenomics/1729163

#PKU #Sapropterin #NHS #Genomics

I remember sitting with parents, their faces etched with worry after their newborn was diagnosed with Phenylketonuria, or PKU. It's a moment filled with so many questions. #bloodphenylalanine #Javygtor #Kuvan #Phenylketonuria #PKUtreatment #Sapropterin #specialdiet

https://priya.health/sapropterin-4/

The last podcast of 2024 sees the return of Dr Francois Feillet discussing the final results of the KAMPER study reporting long-term outcomes of Kuvan (BH4) in phenylketonuria.

https://open.spotify.com/episode/3d2y80FeohhFMkt8Gpa895?si=M79EqhPtTnysH6wSpbTU2Q

#phenylketonuria #PKU #KUVAN #BH4

New series on #Sapropterin (#Kuvan)

I have spent months doing baseline testing and trialling Sapropterin. Like many others, it has proven a hard road, but I feel ready to share my experience in a series of 3 blogs.

Here is the first one for your weekend reading:

Sapropterin trial, part 1: genetics & patience.

to https://pigpen.page/

#LivingWithPKU #PKU

A year after the genetics testing I was able to start trialling #Sapropterin (#Kuvan)

I had a poignant moment when I realised I was about to try my first treatment beyond restricted-diet therapy in over 40 years of #LivingWithPKU

#PKU #AdultPKU

https://pigpen.page/sapropterin-trial-part-3-the-trial/

Update on the #Sapropterin (#Kuvan)Blog series:

Sapropterin trial, part 2: Baseline testing discusses the requirements of the baseline control testing before starting the medication, and looks at the interesting lessons learned.

https://pigpen.page/sapropterin-trial-part-2-baseline-testing/

#LivingWithPKU #PKU #AdultPKU

Update on the #Sapropterin (#Kuvan)Blog series:

Sapropterin trial, part 2: Baseline testing discusses the requirements of the baseline control testing before starting the medication, and looks at the interesting lessons learned.

https://pigpen.page/sapropterin-trial-part-2-baseline-testing/

#LivingWithPKU #PKU #AdultPKU

#Sapropterin blog series - with correct link!

Sapropterin trial, part 1: genetics & patience.

https://pigpen.page/sapropterin-trial-part-1/

#LivingWithPKU #AdultPKU #PKU #Kuvan #pkuawareness #PKUFitness #pkulife #pkuproblems #pkustrong

New series on #Sapropterin (#Kuvan)

I have spent months doing baseline testing and trialling Sapropterin. Like many others, it has proven a hard road, but I feel ready to share my experience in a series of 3 blogs.

Here is the first one for your weekend reading:

Sapropterin trial, part 1: genetics & patience.

to http://PigPen.page

#LivingWithPKU #PKU