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
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
❓ ❓ Questions:❓ ❓
How common is #PKU?
How is it inherited?
Why are some people allowed more #Protein than others?
Why does #sapropterin only work for some?
⬇️ ⬇️ Answers!⬇️ ⬇️
https://pigpen.page/the-genetics-of-pku/
#LivingWithPKU #AdultPKU
August at PigPen 🌞 PKU, brain injury, mental health.
- NSPKU Fundraising activities round up & conference details released
- Results of my #Sapropterin trial
- Clear guidelines on returning to school after #Concussion
- Have your say on #TicketOfficeClosures.
- https://mailchi.mp/8138c4b53d97/pigpen-newsletter-pku-brain-injury-and-mental-health-9116836
TW: blood & needles
Tips for #PKU #BloodSpot
The #sapropterin trial meant daily #tests & I review different lancets & offer tips
TLDR: lancet has big effect on pain & healing as does choosing the site
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.
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
❓ ❓ Questions:❓ ❓
How common is #PKU?
How is it inherited?
Why are some people allowed more #Protein than others?
Why does #sapropterin only work for some?
⬇️ ⬇️ Answers!⬇️ ⬇️
https://pigpen.page/the-genetics-of-pku/
#LivingWithPKU #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/
poconnor
Dr Priya Sammani ( MBBS ,DFM )
