Sharon Bee

The last 6 wks have been the most settled time that I’ve ever had with my son! He’s been on a private prescription of Mounjaro. He’s lost an amazing amount of weight, but more than that is how calm he is without food being his 1st thought. He’s managing #pku in his stride too!

Interesting new #PKU publication exploring the use of AI to review descriptive language work. The authors find a difference between patients and controls and see a notable variation between those with high and low Phe levels.

https://doi.org/10.1002/jimd.12831

#VisualAbstract #AI

After a brief hiatus, the Footprints series returns with its 5th episode: Psychiatric Presentations of Inherited Metabolic Disease.

Apple: podcasts.apple.com/gb/podcast/j...

SoundCloud: on.soundcloud.com/KaomQhyiWmuF...

#inheritedmetabolicdisease #IMD #IEM #raredisease #footprints

I am grateful of the NHS. But I do wonder how resources get used. Our try for nhs mounjaro was: a gp phone appt, a gp appt, a blood test, another gp appt, a pku clinic, a weight management clinic (WMC), more blood tests & then a final WMC and then told NO. NHS time could be used more wisely

The beach at Guardamar Del Segura is perfect for a walk at this time of year! #costablanca

Denied #sapropterin though halved levels that were usually over a 1000. Now denied Mounjaro though falls into the prescribing criteria; used up a few NHS hours to be told by a consultant that weight management is simply eat less move more. Now bought a private prescription for my boy.

"HSE could save money if it paid for this drug" #Palynziq #HTA #EnzymeReplacementTherapy #PKU

pressreader.com/article/2822...

Enjoying it so far 📚📚

Finished reading this month’s book swap from my sister in law. I now need to decide which of my reads to send over to her! #internationalbookswap

I’m just about to begin “sorrow and bliss”

What Is Food Noise? A Conceptual Model of Food Cue Reactivity As GLP-1 receptor agonists, like semaglutide, emerge as effective treatments for weight management, anecdotal reports from patients and clinicians alike point to a reduction in what has been colloquia...

An interesting article on food noise! It will be especially interesting to see if the “food noise” dulls for my boy and helps keep him on a #pku diet.

pmc.ncbi.nlm.nih.gov/articles/PMC...

Take care of yourself people. You can’t pour from an empty cup.

That’s me settled for the evening #cuppa #hotwaterbottle and a #goodread
#BAParis #TheGuest

I love taking a daily walk into my village! But Wednesdays and Fridays are especially my favourite days due to the community charity shop being open! A euro a book ❤️ Yes, this is inland #Spain #myspanishlife

My yellow roses in the November sunset! In the language of flowers, yellow roses symbolise friendship and joy! So here’s to joy and friendship that is being forged here on #bluesky

YouTube video by TEDx Talks The Empowering Role of Advocacy: A Parent's Perspective | Bernadette Sheehan Gilroy | TEDxTralee

What happens when a baby gets a positive heel prick test in the first week of life? How would you cope with your child's diagnosis? Navigating my #PKU journey. Please SHARE to help #RaiseAwareness of a challenging and commonly misunderstood rare condition.
youtu.be/KX9xvZgZ7Hc?...

European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria on LinkedIn: #espku2024 The E.S.PKU Conference is a unique platform for fostering collaboration between professionals and the PKU community. This year, attendees had two incredible…

E.S.PKU Conferences are the unique opportunity to interact with the professionals working in the field of #PKU During this year's Conference #ESPKU2024 participants had 2 opportunities to ask them their questions and get answers.

www.linkedin.com/posts/espku_...

And now a starter pack: go.bsky.app/J3KBu9E

I’m the same Soheb. I probably posted in a disjointed hotchpotch kind of way and I’ll probably be the same here.

This was definitely the case for both of us as parents at the initial clinic meeting after diagnosis. Months later I described this as feeling like the future, at least 20 years forward, had just set into stone.

It's the middle of November and I’m walking in the hills still wearing a t-shirt, the sun is out, and the sky is blue. One of the many things I find joyful about my life in #Spain. #lovespain #costablanca

Absolutely this 👇
I’ve felt the grief prior, during and after every #pku #ADHD #ASD appointment for my children. Then add the wider engagements with agencies such as NICE and the EMA! I only wanted to be a mum, but I’ve had to be much more!

Happy birthday Soheb 🎉🎉hope you are celebrating with a big slice of #pku friendly cake 🎂🍰

A nod to my Mancunian roots 🐝🐝🐝

Charity NSPKU News and Views magazine with child's colourful lion picture on front cover

Part of magazine article on fundraising idea for charity NSPKU. With link to donate and get a print of lion picture if £30 or more donated.

Proud mama moment. Wasn't good enough for display in primary school. Now front cover and 3 page spread article for NSPKU News and Views magazine. Go my girl! #pku #donate #nottoolate

If there aren’t any giants about to stand on the shoulders of! Then be the giant!

Hello, my name is Clair and I have a metabolic genetic condition called #PKU.
#PKU means that I am missing an enzyme to break down the essential amino acid, phenylalanine. Phenylalanine is found in all natural protein, so this means I cannot eat ANY protein food. Meat, cheese, eggs, lentils etc.🧵

*pssssst*

Hey

You know that one project?

That one you've wanted to write FOREVER except it's scary as hell & maybe you don't feel good
enough or brave enough or strong enough?

Spend 15 min on it today

Keep the dream alive

Even a pot on the back burner needs to occasionally be stirred

Hey all, is there a list of British journalists and/or UK MPs to follow?

I have PKU, and there is a lot of campaigning that needs to be done in order to advance the treatment of PKU, so it would be really great if there was a list of MPs and journos on tap to reach out to.

Haha thanks, I’ve been lurking for a short while!