𝗕𝗼𝗵𝗿𝗶𝗻𝗴-𝗢𝗽𝗶𝘁𝘇 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗗𝗮𝘆 🌟

Today, April 6th, marks an important milestone as we celebrate Bohring-Opitz Syndrome Awareness Day, honoring the journey of families affected by this rare genetic condition. Ten years ago, on this day in 2011, the first support group was formed on Facebook, creating a platform for parents and caregivers to connect, share experiences, and provide support.

𝗪𝗵𝘆 𝗚𝗼𝗹𝗱 & 𝗗𝗲𝗻𝗶𝗺?

- Gold represents the love and brilliance of our children, who are precious and bring light into our lives. Many children with Bohring-Opitz Syndrome are drawn to shiny objects, making gold a fitting symbol.
- Denim signifies the awareness of rare and genetic diseases. Blue denim is recognized as the color for these conditions, fostering unity among families facing similar challenges.

This year, we want to encourage everyone to learn more about Bohring-Opitz Syndrome and support the families navigating this journey. Together, we can make a difference!

Join us in raising awareness by sharing this post.

#BOSAwarenessDay #BohringOpitzSyndrome #RareDiseaseAwareness #SupportFamilies #GoldAndDenim #GeneticConditions #BOSFoundation #CommunitySupport #HopeForBOS #SCABPharmacy

Let’s continue to spread awareness and support one another! 🌈

#NHSEngland to screen 100,000 babies for more than 200 #GeneticConditions

Experts say sequencing whole genome of newborns will be ‘transformational’ in earlier diagnosis and treatment
https://www.theguardian.com/society/2024/oct/03/nhs-england-to-screen-100000-newborn-babies-for-more-than-200-genetic-conditions
#NHS

Long post time! #Storytime
This year I made the hard decision to go fully part time. It was to help not only my mental health but physical health.

I have #PKU, a rare #genetic #metaboliccondition which means my body cannot break down protein.

Diagnosed from birth, those with #PKU have to be on a limited diet with very little to no protein in their diet.

I am allowed 5 grams a day.

For reference:

A large egg is 6g
A big mac is 12g
A can of baked beans is 19g
A whole frozen pepperoni pizza is 35g
The Burger King Bacon XL burger is 63g

The picture below is my lunches organised for the next week, each lunch selection is only 1g of protein.

This means meal has to be made from scratch weighed, portioned and planned, every mouthful has to be thought through. My basics like bread, pasta and snacks are prescription based and I have to take protein substitutes every single day.

New treatments are coming out such as #Sapropterin (this is not a cure, this just works to give the protein breaking down enzyme a boost) but these only work on 30% of #PKU people, working other treatments that could work with a wider range is hard to get through the #NHS tests and prices.

There is no cute, until more treatments become available, the medical recommendation is #dietforlife

Until the #2020lockdown I thought I could work my diet around by life and work but I realised for the best outcome for me, I have to focus on my health and diet first, then work.

This year I was also diagnosed with #ADHD, which has helped me not only to greatly understand my #Neurodivergent brain but also love it and the way it works. I'm not broken, just different.

I am now working from home, part time and finally have the work/life balance that means I am working to the best of my ability and have the energy and time to take care of myself. We only have one trip around this universe. I plan on making the most of it.
#geneticconditions #metabolic #diet #PKU #dietforlife