Tommy's Story - Bohring-Opitz Syndrome

10/05/2026

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Happy Mother’s Day to the incredible moms, grandmothers, bonus moms, guardians, and mother figures in our BOS community. 💙⭐️

Today we celebrate the strength, resilience, advocacy, and unconditional love you pour into your children every single day. Your love shines through every milestone, every challenge, and every moment in between.

We also honor and remember the mothers and children who are no longer physically with us. To the moms carrying the love and memory of a child who has passed away — including our forever BOS angels — we hold you especially close today. We also remember and celebrate the mothers from our community who have passed away, whose love, strength, and impact continue to live on through their families and all who knew them.

Whether today brings joy, grief, gratitude, or a mixture of emotions, please know you are seen, valued, and deeply appreciated.

Thank you for being the heart of this community and for showing the world what unconditional love truly looks like.

Happy Mother’s Day from the Bohring-Opitz Syndrome Foundation. 💐

(Special thanks to Olivia Breeden for creating this awesome collage.)

08/04/2026

Just wanted to share a little milestone Tommy hit today 🥰 We had to nip to the hospital to collect his new prescription, and I thought we could risk it and try to walk from the car park, expecting to carry him at some point. Well, he made it all the way to the pharmacy from the car, and back again 😍💪 he’d been doing a bit of walking before we got there at the park, so thought he might have been a bit too tired, but he did amazing 🤩 first time we’ve managed to run a little errand without the wheelchair. It’s a decent trek too for someone with little legs and relies on a wheelchair! I’m so, so proud of him. Felt incredible to have my little boy walking next to me, holding my hand 🥹🥰💪💙💛

06/04/2026

Please give this cheeky face a share 💙 The more people we can make aware of this ultra rare condition the better!
Our cheeky monkey is 1 of approximately 300 in the world with this condition 🌎 The fact it is so rare makes it so hard for people to understand, so let’s share and spread awareness ❤️
I never expected this to be our situation when we were expecting our little TJ, but I wouldn’t change a thing! He has taught me so much, and has already gone through so much these last 6 years, literally since the day he was born.
I’m so incredibly proud of him, he’s an absolute superstar, can be a mischievous little monkey at times, but it’s all what makes Tommy - Tommy! Happy Bohring-Opitz Syndrome day! 💙💛⭐️🌍

06/04/2026

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05/04/2026

Our TJ 💙💛 1 of 300 in the world 💛💙 🌎

-opitzsyndrome

Someone I love has Bohring-Opitz Syndrome, a rare and complex neurodevelopmental disorder caused by a change (mutation) in the ASXL1 gene. This change usually happens randomly, though in some rare cases it may be inherited.

🌍 We think about 300 people worldwide are currently diagnosed, making Bohring-Opitz Syndrome an ultra-rare disorder. We believe others may be living with Bohring-Opitz Syndrome but remain undiagnosed due to limited access to genetic testing.

💙 Bohring-Opitz Syndrome affects each person differently, with a wide spectrum of abilities and needs. For many families, Bohring-Opitz Syndrome means managing multiple serious medical challenges at once, often without a roadmap.

Common features may include developmental delay, intellectual disability, seizures, sleep apnea, feeding difficulties, cyclic vomiting, recurrent infections, orthopedic concerns, vision problems, and distinct physical features. Children with Bohring-Opitz Syndrome also have an elevated risk for two rare cancers, Wilms tumor and hepatoblastoma, making cancer screening a routine part of care.

The families and caregivers of people with Bohring-Opitz Syndrome navigate extraordinary medical complexity every single day.

💛 The ARRE Foundation’s mission is to make sure no family faces Bohring-Opitz Syndrome alone. Your donation funds the research, resources, and guidance that help families navigate this condition – and moves us closer to the treatments they deserve. Make your donation in honor of the one you love at www.arrefoundation.org/donate.

05/04/2026

Happy Easter everyone! 🍫🐣🐰 Hope you all have a lovely day and eat loaaaaaads of chocolate!! Love from Tommy 💙

14/03/2026

Please share 💙💛

Turn awareness into action on April 6th!

On April 6, families around the globe unite for Bohring-Opitz Syndrome Awareness Day. With an estimated 300 people diagnosed worldwide, this ultra-rare condition is often overlooked — leading to delayed diagnoses, limited treatment options, and little research funding.

Your voice can change that. Stand with us to honor our loved ones living with Bohring-Opitz Syndrome, raise awareness, and drive critical ASXL-related research forward.

Learn more: https://bit.ly/bos-awareness-day

03/03/2026

A few pics from our much needed family time during half term 🩵💛 What a week 🥰☀️✈️