Meet Dee and Dan

Life for Dee and her husband of 40 years Dan has always been an adventure. Dan was in the military, and the couple and their son lived for many years in Europe. While Dan focused on his career, Dee devoted herself to raising their son, organizing major fundraisers to help the less fortunate and refining her cooking and arts and crafts skills. After returning to the United States and settling in Northern Virginia, Dee became the president of the parent-teacher organization at her son's school, and a high school substitute teacher. Dee covered any class that needed her, from physical education to physics -- and she was everyone's favorite.

When Dee was in her 40s, she began experiencing unusual behaviors that she could not control. Some words became hard to pronounce and she began weaving when she walked. In 2005 after a medical appointment her doctor wrote a note in her file saying, "slurred speech and gait issues." Slowly, year after year, these symptoms worsened. Dee sought an answer, visiting multiple doctors and going through a series of tests. But no one could figure out what was wrong.

Finally, in 2018, she was accepted into the Undiagnosed Diseases Network, a program run by the National Institutes of Health. At the age of 59, Dee received a diagnosis of Niemann Pick Disease type C (NPC). NPC is a rare, progressive, and fatal genetic disorder characterized by abnormal accumulation of cholesterol in cells. Symptoms of the disease include enlarged liver or spleen, difficulties with motor skills, speech, swallowing and feeding, and cognitive impairment. NPC is highly variable, meaning that the age of onset and types and severity of symptoms can vary widely from one person to another. Some patients begin showing symptoms of the disease in the first few months of life while many others develop "late onset" NPC where symptoms do not appear until adulthood. "When we received the diagnosis, we read in the literature that patients with NPC are dead by the age of 40," recalled husband Dan. "Dee was already 59 so we knew we were pretty much on our own. It was great to have a name for the disease, but there was not much we could do about it."

A year later in 2019, Dan and Dee attended a family conference organized by the National Niemann Pick Disease Foundation (NNPDF). At this meeting, they were able to connect with other families and met a doctor they credit with changing their lives, Dr. Caroline Hastings. "She understood this disease and she gave us hope," said Dan. Since that meeting, the NNPDF has become an invaluable resource for Dan and Dee, helping them identify and connect with medical specialists, providing advice about health insurance issues, and building close connections with others who really understand their journey with NPC.

As Dee has progressed with NPC, she has lost her ability to do many things she used to do, including cooking and working on arts and crafts projects. Travelling has become difficult, and there is always a fear of falling. "I worry what would happen if Dee fell, broke a bone and needed to be hospitalized," said Dan. "For Dee and others with NPC, you have to "unlearn years of habit, and relearn how to do the many basic things to stay safe – how to walk carefully, even how to chew and swallow to avoid aspirating." To try to address these new challenges, Dee attends both speech and physical therapy, and is determined to stay as active as she can. She also enjoys watching movies - as many as four each day – and she and Dan plan long car rides together to get out of the house.

As Dee has adjusted to living with NPC, Dan has embraced his role as caregiver. Although Dee teases and calls him a "nag," he knows better than anyone how to care for and support his wife of 40 years. Dan keeps the refrigerator well stocked with high calorie foods he knows Dee will eat, including her favorite tiramisu. He has converted their dining room into a first-floor bedroom so Dee does not have to use stairs. Dan is also responsible for all cooking, cleaning, scheduling appointments and managing Dee's care. "Expect challenges, expect changes as the disease progresses," he said. "But always remember that there is hope and you are not alone. Ask for help and take it, even if you don't think you need it."

Dan continued, "There is also a major issue of isolation and a lack of socialization for many patients because of all the physical and medical challenges they face. But we try to find ways to be social – even turning physical therapy and other appointments into social events and working with our health care providers to make exercises and activities more fun. I also believe it is crucial for those with NPC to get physical therapy and focus on building and maintaining core strength. Like any health care provider, find a physical therapist you connect with and who will make it enjoyable. Maintaining strength is so important."

Dan and Dee hope that by sharing their story they can raise awareness of NPC and that there will be more support for people diagnosed later in life. They believe more research into NPC is needed, and that someday approved treatments or a cure can be found. As their adventures together continue, they have learned to take life day by day. "We don't know what the future holds, but really no one does," said Dan. "So, we enjoy what we have."

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