Real.      Raw.      Rare.

Jillian is a wife to her partner, Donald, and a mother to her two children, Roman and Stella, who both suffer from an ultra rare and life limiting genetic disorder, ASMD (Acid Sphingomyelinase Deficiency or otherwise known as Niemann Pick Disease Type A/B).

 

Jillian received her Bachelor’s degree in Fine Arts from Ohio University and after graduating went on to work for a non-profit art studio in Cincinnati for adults with disabilities. She absolutely adored that job, but her husband's company re-located them to Cleveland. After returning back to Cincinnati a couple years later, she worked as the Assistant Director of private events at a popular Cincinnati brewery.

 

Their son was born September of 2018 and was diagnosed with ASMD in May of 2019 and their world's were completely flipped upside down. ASMD is a progressive multi-systemic genetic disease that can lead to an early mortality. There is no known cure, but there are some promising treatments in the works. It primarily affects the liver, spleen, and lungs, but in more severe cases (like that of her two children) it causes a rapid neuro-degeneration in the brain similar to a “baby Alzheimer’s.”

 

To make things even more complicated (because nothing can be easy, right?) they found out that they were expecting their baby girl just three days before receiving their son’s diagnosis (surprise!). Upon getting Stella tested at birth, they found out that she too carried the same genetic markers as Roman and was also diagnosed with ASMD. Their hearts were shattered not just once, but twice. Shortly after Stella was diagnosed, Jillian left her job at the brewery to become a full blown medical mama and full time caregiver to her two children. She made it her personal mission to do everything in her power to find her children treatment. Last year she started a go fund me to raise money to fast track very promising treatments that could drastically improve the quality of as well as prolong her children's lives and the lives of so many others diagnosed with this devastating disease. With the support of many friends, family, acquaintances and total strangers, she has been able to raise over $130,000 (and counting) toward this very important research so far! Jillian also sits on the Research Participant Advisory Committee for their local children's hospital where she helps provide feedback to researchers and administration with the collective goal to make a greater impact on health outcomes through research. She is a member of the Genomic Information Commons Patient Advisory Panel as well as a member of the Family Support and Assistance Committee for the National Niemann Pick Disease Foundation.

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Jillian wanted to start this podcast with the intention of sharing their journey with the world, share her truest, rawest, thoughts and feelings as she navigates life raising not just one, but two children living with a life-limiting genetic disease, and be able to connect with other parents who are also on an atypical path with their children. She knows how receiving a diagnosis like this can be completely and utterly devastating, but wants parents who are also struggling to realize that when you pull yourself out of the darkness and shock, there is so much light and beauty to be seen and experienced.

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