The worry of a mother for her child never ends. I am the sole caretaker for my adult daughter who suffers from multiple rare diseases. Her conditions prevent her from living independently. She has nearly died several times during her 22 years of living with chronic medical diseases. Unfortunately, our story is all too common.
There are thousands of Californians and their families living with one or more ore rare condition and who suffer from misdiagnosis due to underfunding in research and treatments. After decades of being her sole advocate, there is help on the horizon, if Governor Newsom approves a modest budget proposal that will help give a voice to the estimated 1-in-10 Californians living with a rare disease.
Any condition that affects fewer than 200,000 Americans is considered rare. Overall, there are more than 7,000 known rare diseases, affecting 25-30 million Americans across a broad spectrum of medical conditions. Rare disease patients face many unique challenges every day, from obtaining an accurate diagnosis and accessing medical specialists with knowledge of their condition, to battling for access to quality care and therapies, and fair insurance coverage of their treatment and care.
Rare diseases are difficult to diagnose and treat. Specialized care is in short supply and treatments can be complex. Evidence-based treatment and rehabilitation research is done at small scale. Data collection is scarce. The development of new medicines and treatments are slow. Due to small patient populations and the variety of rare diseases, it can be difficult for state government officials to have an in-depth understanding of the rare disease community’s needs. This lack of awareness often contributes to the obstacles faced by rare disease patients and their loved ones.
These past few years have been particularly difficult due to Covid-19-related restrictions. For example, it was difficult to obtain specific prescribed medications for months which caused extreme health issues with her Lupus. Access to treatment was not the only barrier, we were not allowed to attend in-person consultations with her doctors due to her high risk of Covid. This was problematic because when Krystal “crashes,” her diseases trigger a reaction to other diseases which, in combination, can be life-threatening.
During the 2021 legislative session, the California legislature passed Senate Bill 247, which would have established a Rare Disease Advisory Council (RDAC). Unfortunately, despite passing both chambers of the legislature unanimously, and despite having broad support from the rare disease patient and provider community, Governor Newsom vetoed SB 247, directing stakeholders instead to create a RDAC through the budget process.
The financial burden of having a rare disease in the United States is significant. Investing in an RDAC could help reduce some of the challenges experienced by those in California’s rare disease community while potentially offsetting costs. In creating this council, California would join sixteen other states that have already enacted similar policies to help families. I urge the legislature to prioritize this and for the Governor to support thousands of patients living with rare diseases like my daughter Krystal.
Karen Morey and her daughter Krystal live in Fountain Valley, California.