Poppy's Story

Our sweet Poppy came into this world in February 2022 and shared her love for 15 precious months. Poppy made a huge impact in her short life; she knew how to live big. She was full of life and personality even though, over time, her body did not allow her to express it normally. Her love for her family was abundantly present, even while she lost her ability to babble, smile or move her body.

Poppy was born a healthy, normal little girl. She was a delight to her brother, Peter, and sister, Rosie. Our family of five settled in for normal life and Poppy was doted on by her siblings and many cousins. 

Things were normal until the age of 4 months. This is when we began to notice Poppy's vision wasn't developing as it should. Looking into her vision impairment is what started about 5 months of medical testing in Poppy. The discovery of her cognitive vision impairment led to a referral to a pediatric neurologist, and many more. Poppy's development in all areas was regressing rapidly. Her physical symptoms continued to get worse while we waited for test results.

Finally, at the age of 9 months, after comprehensive genetic testing, we found a root cause for everything. Poppy was diagnosed with an ultra-rare genetic disorder called TBCD, a leukodystrophy and neurodegenerative condition.  Symptoms are progressive, with an average lifespan of 3-5 years. Currently there are fewer than 50 diagnosed cases worldwide.

When given this diagnosis, Poppy's geneticist explained that there was so little research available on the TBCD gene mutation, but life expectancy was expected to be short, 3-5 years. We were encouraged to connect with other families through social media to see if we could find answers or support there. 

The group of families connected through the TBCD Foundation were a tremendous support and source of encouragement as we navigated treatment and comfort care for Poppy. 

Poppy’s journey was documented on TikTok where our whole family found many supporters and new friends. Her videos are just one of the ways that so many people came to know and love Poppy. People from all over the world checked in daily to spot her infamous yawns, sassy thoughts, and soak up the life in her eyes. Poppy’s favorite thing was to float in her hot tub (the “Pop Tub”) with Rosie and Peter. 

Poppy’s life was a love story. Many people, near and far, felt God’s design for love through her. Poppy loved hearing her siblings, listening to music, and most of all, being snuggled by her family. 

We are grateful for your support as we endeavor to help support research for TBCD treatment for the children and families who have been affected by this rare condition.