What is Shashi-Pena Syndrome?
Shashi-Pena Syndrome (SPS) is an extremely rare genetic condition caused by changes in the ASXL2 gene. Discovered in 2016, it is estimated to affect 505-55 individuals worldwide. People with SPS can experience a range of developmental, neurological, and physical differences, which vary in severity. Like many rare conditions, awareness and understanding are still growing.
For families and individuals affected by SPS, finding the right information and community can be life-changing.
Understanding SPS: Key Features
Common characteristics of Shashi-Pena Syndrome may include:
- Developmental delays
- Hypotonia (low muscle tone)
- Distinct facial features
- Seizures
- Feeding difficulties
- Intellectual disability
- Autism spectrum traits
- Heart or kidney anomalies (in some cases)
Because it is so rare, each person with SPS presents differently. Early intervention, supportive therapies, and individualized care can make a meaningful difference in development and quality of life.
For medical information, please speak with your healthcare provider or visit the ARRE Foundation’s website below.
Our Journey with SPS
Our family’s journey with Shashi-Pena Syndrome is still unfolding. Receiving the diagnosis brought a mixture of emotions—relief, fear, and hope. Like many families navigating a rare diagnosis, we found strength in connection, education, and support from others who understand this unique path.
I’ll continue to share our full story through blog posts, but I wanted to create this page as a space for anyone seeking clarity, comfort, or community. You’re not alone.
Support from the ARRE Foundation
We are so grateful to be connected with the ARRE Foundation, a nonprofit organization dedicated to supporting families affected by rare genetic conditions like SPS.
The ARRE Foundation offers:
- Educational resources for families and medical professionals
- Community connections through family events and online groups
- Advocacy and research initiatives to improve diagnosis and care
You can learn more or get involved by visiting their website:
👉 www.arrefoundation.org
Shashi-Pena Syndrome Awareness Day – October 6
Each year on October 6th, families and advocates around the world come together to raise awareness of Shashi-Pena Syndrome. Awareness Day is a chance to:
- Celebrate those affected by SPS
- Share educational resources
- Encourage understanding and inclusion
- Fundraise for research and support
Whether it’s sharing a post, lighting up in blue, or simply learning something new—you can help make a difference.
Help Us Make a Difference
In August, we will be completing 2 million steps to raise awareness and vital funds to help aid research. If you’d like to support our journey, we’ve created a fundraising page to raise awareness.
👉 Visit our fundraiser here
Every share, donation, or word of encouragement means the world to us.
Connect With Us
If you’ve found this page because you or someone you love has received a Shashi-Pena Syndrome diagnosis, please know that you’re not alone. I’d love to connect and share more about what we’ve learned so far.
Feel free to reach out or follow along on the One in a Daisy blog as we continue to share our story, one post at a time.
With love,
Danielle 🌼