TNPO2 Foundation
Hope And Action For
Children Critically Ill with Rare Disease
We provide resources and support to parents with critically ill children with (or likely with) rare diseases.
We raise and strategically deploy funds for rapid research, development, and administration of personalized treatments.
ABOUT THE TNPO2 FOUNDATION
We created the TNPO2 Foundation after our son Leo was diagnosed with an extremely rare mutation in the transportin-2 gene (TNPO2) at four-and-a-half months old. He was the second person ever to be identified with this exact mutation. Propelled by Leo's intractable seizures, severe developmental regressions, and a patient population "too small" for academia and industry, we launched a dedicated research program to find a path for Leo.
We are committed to helping families facing the challenges of rare diseases. Our purpose in sharing our story and building this foundation is to help parents with children who are facing these medical challenges.
- Yiwei She
Our mission at the TNPO2 Foundation is build the change needed to:
- diagnose critically ill infants and children.
- bring disease modifying treatments to those with no other options.
We are raising funds to advance the
development of treatments for childhood rare diseases.
We work collaboratively to support the systemic changes needed to meet the challenges of rare diseases.
Patient Community
Connect with patients, families, and caregivers on the private TNPO2 Facebook Group.
Leo's Story
On February 16, 2022, we finally received a definitive diagnosis after 4 months of continuous tests and specialist consultations. Leo had an extremely rare mutation in a copy of his TNPO2 gene. Only one other case had been observed worldwide.
With diagnosis in hand, and learning from the parents who came before, we rapidly assembled a team to develop and administer a personalized therapy, an ASO.
Our preclinical efforts resulted in a disease model in late 2022, and preclinical rescue in early 2023.
Leo received his first dose in San Diego on July 2023.
Leo Wei Church was born on October 4, 2021. Mom, dad, and sister welcomed him with joy.
Two weeks later, a routine check up found that Leo's head was concerningly small (microcephaly), indicating impaired brain growth and development. This symptom is comorbid with serious to severe neurological impairments in 80%+ of cases.
Leo suffered his first seizure and took his first trip to the ER on December 23rd 2021. We came home on Christmas day with more questions than answers.
We are observing him carefully, with scientific skepticism, for signs of progress and clinical improvement.
Meanwhile, the TNPO2 Foundation enters its next stage: catalyzing, building, and sustaining the changes needed for families and patients to access precision medicine and precision care.
To bridge the gaps for access to precision diagnostics, to build the partnerships in developing life saving medicines. To bring together and enable the teams working on life changing science.
To do the work to realize the hopes of families of patients with the greatest unmet needs.
Our Work
We are planning the next stages of the TNPO2 Foundation's work. Enter your
contact information to stay tuned or get in touch.
Donations of any kind, whether expertise, advice, in-kind biomedical research goods and services, or monetary, are all appreciated and will be put to good use.
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