In August 2017, Barbara (Barb) and Gary Lazarus of Oxford, Connecticut got devastating news: Their son Daniel, then 30, was diagnosed with adult-onset Neimann-Pick Type C (NPC), an ultra-rare, fatal genetic neurodegenerative disease. Later, they learned that Daniel’s younger brother David also has NPC.
Although it has been a challenging road, Barb said Daniel’s participation in a clinical trial and Nuvance Health’s comprehensive neurological rehabilitation (neuro-rehab) outpatient program has helped preserve his quality of life.
Receiving a diagnosis
Barb and Gary first noticed Daniel’s symptoms when he was in his early 20s.
“He had a tremor, memory loss, and balance and psychiatric issues — subtle things we knew were off, but we couldn’t put our finger on it,” said Barb.
Barb said it was a long road to a diagnosis. Daniel visited neurologists, psychiatrists, and a neuropsychologist for evaluation. Meanwhile, Daniel’s symptoms began to progressively change and worsen.
Daniel’s primary care physician recommended another evaluation with a neuropsychologist who was concerned that he might have a movement disorder such as Parkinson’s disease. Daniel had further evaluation at an adult movement disorder clinic where he was diagnosed with NPC through genetic testing.
The disease interferes with the body’s ability to metabolize cholesterol, causing it to build up in the liver, spleen, and brain. NPC leads to neurological complications that are ultimately fatal.
“We were confused, shocked, stunned, and sad when Daniel was diagnosed with NPC,” said Barb. “We never expected a diagnosis of an ultra-rare disease.”
Finding treatment and support
After Daniel’s diagnosis, Barb and Gary learned as much as possible about NPC. However, it was hard to find information because the disease is ultra-rare and what they found was discouraging.
The family learned there is currently no cure and no approved treatment for NPC. Care for NPC focuses on reducing symptoms and maintaining independence and quality of life.
In January 2018, Daniel entered the first clinical trial ever offered for adults with NPC. The trial involved an intravenous infusion every two weeks and required the family to travel to California. Under the trial’s extension program, Daniel has received biweekly infusions at home for the past year.
“An infusion nurse comes to our home and gives Daniel the treatment, which takes nine hours,” said Barb. “The purpose of the treatment is to slow down or stop the disease from progressing.”
Barb, a semi-retired speech-language pathologist who worked with young children, knew that she needed to do more to help Daniel preserve his independence. Already familiar with the different types of rehabilitative care, she began searching for therapists who specialized in neuro-rehab. Dr. Beth Aaronson, a Danbury Hospital physical medicine specialist, recommended Danbury Hospital’s Main Street Rehabilitation.
Daniel began rehab in summer 2019 under the care of Main Street rehab specialists Vito Boffoli, senior occupational therapist (OT), and Debra Neeb, senior physical therapist (PT).
(Left to Right) Vito Boffoli, OT, Daniel Lazarus, Debra Neeb, PT
“We could not be happier with the results,” said Barb. “Vito and Deb have exhibited a high level of skill and expertise in treating my son, but beyond that, they have shown compassion, care, and understanding while working with him.”
Not only did Vito and Deb help Daniel, but they also educated the family about how to assist him at home by maximizing his skills and promoting as much independence as possible.
After Daniel completed OT/PT, he had the option to continue his program in a supervised gym setting. Daniel now works with Robert Morse, exercise physiologist, in the gym. According to Barb, Daniel gets the same level of care, interest, and compassion that he received during OT/PT.
(Left to Right) Daniel Lazarus and Robert Morse
‘Patience and persistence’
Barb said Daniel’s therapy team has shown ‘patience and persistence’ during his treatment. As a caregiver, Barb tries to do the same.
“You need to keep pushing and asking questions,” said Barb. “You become the driver.”
Now 34, Daniel views rehab, the infusion treatments, and other aspects of his care as “something he needs to do.” He enjoys movies and country music and said he feels “pretty good.”
While Daniel and his family hope for approval of promising treatments and an eventual cure for NPC, they continue to look at the positives in their lives — family, friends and the thoughtfulness, humanity, patience, and kindness of the people they encountered on their journey.
“We make the best of what we have,” said Barb.
(Left to Right) Barbara, David, Daniel, and Gary Lazarus
(Left to Right) Barbara, Gary, Daniel, and David Lazarus
(Left to Right) Daniel, Barbara, and David Lazarus
Nuvance Health offers comprehensive rehab services for kids and adults living with complex neurological conditions. If you or a loved one is living with a neurological disorder, our specialists can help maximize skills, preserve quality of life, and promote independence. Learn more about Nuvance Health’s Connecticut outpatient physical medicine and rehab in Danbury and Southbury and Norwalk and at Nuvance Health’s New York locations.
Disclaimer: The outcome of outpatient rehab will vary from person to person. No individual results should be seen as typical.
Amy Forni, Manager, Public Relations
(203) 739-7478 | Amy.Forni@nuvancehealth.org