Receiving a diagnosis of any kind has implications not just for the person on the receiving end, but also for their family, friends and the people closest to them. A person’s diagnosis and resulting treatment can affect the way they are impacted by everyday life and may lead to them requiring additional support and care from their family of kin, family of choice or friends.1 Many of the diseases Jazz focuses on are lifelong and profoundly disruptive to a person’s everyday life, therefore requiring the additional support of a caregiver.
Every November, during National Family Caregivers Month, we honor the millions of Americans who support their friends and loved ones. This year, we are sharing two stories showcasing the lives of people living with rare and complex conditions and honoring the immeasurable support provided by those who care for them.
When Zora was six months old, she was rushed in an ambulance to the hospital. Even though she was hitting all her developmental milestones, she was suddenly experiencing recurrent seizures. Because the seizures were occurring throughout the brain, doctors diagnosed Zora with a general epilepsy and initially thought it might be something she would outgrow over time.
After four years of unsuccessfully trying different treatment options and the increasing frequency of Zora’s seizures, Steve and his wife decided to seek out a second medical opinion. The doctor recommended Zora get a genetic test, which showed that she was positive for a rare form of epilepsy called Dravet syndrome, a severe lifelong form of epilepsy typically beginning in the first year of life.2 Along with seizures, Zora also experienced other difficulties that are typical for those living with Dravet, such as developmental delays, motor skill symptoms and speech impairments.3
Zora’s diagnosis came at a time when there were no U.S. FDA approved treatment options available for Dravet. Ultimately, Steve had to put his career ambitions on hold to stay home and care for his daughter. The family considered moving to states that provided access to treatment options. Steve took to lobbying state legislatures to pass bills that would allow certain treatments, read countless studies on the disorder and even contacted pharmaceutical companies to inquire about getting his daughter into clinical trials. He was an avid advocator, attending conferences and seeking information about the disorder so that he could provide better care for his daughter. The goal being to find a better quality of life for her, stating, “Zora is who she is because she has Dravet syndrome, and I wouldn’t change that. She’s awesome. She’s very fun. She’s happy. She likes people. She has a great personality, and she will make you fall in love with her.”
Meghan’s sleep patterns caught her family’s attention when she was in high school. They began noticing that Meghan was having mental and physical difficulties with waking up, which led to a constant sense of tiredness impacting her socially and emotionally. After five years of misdiagnoses and interactions with physicians who thought it was “all in her head” or that she was suffering from depression, Meghan was diagnosed with idiopathic hypersomnia (IH), a chronic neurologic sleep disorder characterized by the inability to stay awake and alert during the day resulting in the irrepressible need to sleep or unplanned lapses into sleep or drowsiness.4,5 The key symptoms of idiopathic hypersomnia include, excessive daytime sleepiness, sleep inertia, cognitive impairment, long and unrefreshing naps and prolonged nighttime sleep.
Unfortunately, Meghan’s diagnosis journey is common for those living with the sleep disorder. IH patients can be invalidated by their families and physicians due to lack of awareness, but Meghan’s family was instrumental in her journey. Meghan’s mother, Jennifer, became an advocate for her daughter at school and in healthcare settings, and helped Meghan manage her symptoms.
Meghan recently shared that she is “so incredibly blessed and lucky to have [my family] in my life. I know many patients with IH still have parents and family that do not believe that [IH] is a real disorder.” The support from Meghan’s family allowed her to feel validated, when many people, including some medical professionals, around her struggle to understand the extent of her experiences.
The overwhelming strength and compassion required of both caregivers and receivers, as well as the importance of a support system, is the common thread of these stories. From advocating for your loved ones to supporting them with everyday tasks, the support that caregivers provide is essential and invaluable.
At Jazz, our patient-centric focus is anchored by our commitment to listening to and telling the stories of patients, care teams and advocacy groups. This allows us to gain insights that ultimately help us improve standards of care, leading to better treatment outcomes. Today, and every day, we extend a heartfelt thank you to the caregivers and patients who share their stories and shine a light on their realities.
