EP. 108 Doctor. Mom. Now Researcher and Entrepreneur. A race against time and all odds for Lucy.

Laurie McGraw is speaking with Inspiring Women Dr. Geri Landman.  She filled her lifelong dream when she became a pediatrician.  And then, life changed when Lucy, her third child, was diagnosed with a rare gene disorder.  A missing PGAP3 gene.  How rare?  50 other children worldwide.  With a prognosis of severe disability and seizures and without a cure, therapies, or treatment, Dr. Landman took on new roles.  Researcher. Entrepreneur (Moonshots for Unicorns). Fundraiser. Advocate.  Mom first. “They teach you in medical school, when you hear hoofbeats, think horses not zebras”. Persistent parental questions led to – first – a feeling that she was overreacting as a parent.  Fortunately, there was a neuro geneticist on the team.  After many tests and exams – it was that call of “let’s talk in an hour” that changed the course of their lives forever.  Geri and her husband had never heard of the PGAP3 gene, let alone what it meant to be missing that gene, as is the case with their young daughter Lucy.  The prognosis included no cures, no therapies, and a difficult future of severe disability and seizures.  The missing PGAP3 gene – a rare gene disorder – affects 50 other children worldwide.  They gave themselves a week to absorb, to think.  Deciding they couldn’t cry forever, knowing they were in the Bay Area – a valley of science and world class medical centers – Dr. Landman and family began the daunting journey of finding a cure in the promising world of genetic science.   Hear Dr. Landman talk about: The promise and reality of genetic science: three scientific approaches for rare gene disorders.  1) the supplement route; 2) drug repurposing and 3) gene therapy – both the most expensive but the most promising Needed: Pharma Business models:  Pharma wants to help but needs 1000, maybe just 500 patients, to build a business model worth pursuing.  Only 50 children have been diagnosed worldwide with a missing PGAP3 gene.  Yet 1% of the worldwide population suffers from a single missing gene – over 10,000 of them. Addressing single gene disorders. With $3-7M of research needed for every missing gene, patient advocacy groups are needed.  Which is why Dr. Landman created Moonshots for Unicorns.  This patient advocacy nonprofit has been working with Nationwide Children’s in Ohio to begin the gene therapy work.  They also have been testing for drug repurposing with potentially promising results. Keeping it all together. Landman describes being tired and energized all at the same time.  As this evolves, her happiest days can be her lowest days.  Yet they proceed. What listeners should know: As moms, when you know something is off, advocate persistently for your child.  And if the diagnosis is the difficult single gene disorder, patient advocacy groups are key today.  Access and affordability are important missions of Moonshots for Unicorns.