A Bay Area couple is in a race against time to find an effective treatment for their baby who was diagnosed with an extremely rare genetic condition for which there is no treatment or cure.
Little Lucy is missing a single gene called PGAP3. As a result, her cells don’t communicate well, and her body and mind will not develop normally. Some children with this genetic disorder never speak, develop severe intellectual disability and suffer severe seizures. If a treatment or cure can be found while she is still developing, Lucy could avoid these profound disabilities and go on to live a normal life.
Research into genetic disorders is expensive and it’s even tougher to raise funds to research rare genetic disorders. Lucy is one of only a few children worldwide known to have the same specific PGAP3 genetic condition.
But Lucy is fortunate in that her parents are both doctors. Lucy’s mom is Dr. Geri Landman, a pediatrician with Sutter’s Palo Alto Medical Foundation (PAMF), and her dad is Dr. Zachary Landman, a pain specialist with Sutter East Bay Medical Foundation.
The Landmans know they are in a race against time to fund research for treatments. That’s why they founded a nonprofit called Moonshots for Unicorns to help fund research for single-gene disorders treatments.
The family is working with pediatrician Dr. Nicole Glenn, who practices at the PAMF Dublin Care Center in the East Bay, to provide the personalized care for Lucy that every child deserves –whether they have a rare genetic condition or not.
Read a San Francisco Chronicle story about the Landman’s efforts to find a treatment or a cure for Lucy’s condition here: “Lucy has a rare disease. Two doctors are leading the desperate hunt for a cure: her parents”.
For more information about PGAP3 and the efforts underway to research a treatment or a cure go to Moonshots for Unicorns.