It was nearly ten years ago when Charles Alvin Middleton became ill on a flight home to Tampa Bay, Florida from a business trip. He was met by an ambulance at the airport and placed in a medically-induced coma, waking a month-and-a-half later to find 17 tubes in his body and discovering by the date on a whiteboard in the ICU that he had been unconscious for 42 days.
Middleton, a 60-year-old manager of multiple orthodontic practices, had triglyceride levels of 13,000 milligrams per deciliter of blood when he was admitted. A normal level would be 150 milligrams or less. Doctors assumed the problem was acute pancreatitis caused by a gallstone. Because of his extensive time in the ICU, he had to undergo physical and occupational therapy to walk, write, and feed himself again.
When a hospitalist saw his triglyceride levels around 9,000 at the start of this year, he said to Middleton, “You could eat a double cheeseburger with bacon on it, have fries, and wash it down with a quart of vegetable oil three times a day, and your body would not allow your triglycerides to get this high.” He ordered tests. After ten years, seven surgeries, and bouts of painful pancreatitis, Middleton finally received a diagnosis of familial chylomicronemia syndrome, an ultra-rare disease.
People with FCS are unable to breakdown chylomicrons, lipoprotein particles that are 90 percent triglycerides. FCS patients are at risk of chronic complications due to permanent organ damage. They can experience daily symptoms including abdominal pain, generalized fatigue, and impaired cognition that affects their ability to work. There is no effective therapy for FCS currently available.
People with FCS also face major emotional and psychosocial effects including anxiety, social withdrawal, depression and brain fog. “There’s no way to describe the isolation and lack of support and the lack of knowledge that people have about the disease,” said Middleton. “You are on this journey yourself.”
Now, a new study published in the online journal Expert Opinion on Orphan Drugs, finds that FCS patients who reported some level of connection to FCS-specific support groups improved their quality of life, health, and mental and emotional well-being. Patients who had regular interaction with other patients reported the greatest improvements.
The study suggests that developing connections with other patients with the same condition could provide both physical and psychological benefits to patients, particularly in the case of a condition without available therapies where patient behavior plays a critical role in maintaining health.
The study, which was funded by FCS drug developer Akcea Therapeutics, asked FCS patients and caregivers in the United States and Canada to respond to a series of questions to highlight their level of connectivity with FCS-focused organizations and the perceived benefits that these associations provide. A total of 50 respondents self-identified as either actively or passively connected or not connected to any patient group. Respondents were asked to compare different measures of quality of life before and after connecting with an FCS support organization.
After connecting with patient support organizations, respondents reported that they were more likely to take steps to manage their health. Patients who were regularly taking part in ongoing conversations with one or more groups were three times as likely to report “high” or “extremely high” motivation in managing their health. As levels of connection increase, patients are also more likely to report higher levels of satisfaction with their primary treating physician.
“It reinforced the fact that people with rare diseases and diseases that have high comorbidity often feel isolated,” said David Davidson, a clinical lipidologist at NorthShore Medical Group in Bannockburn, Illinois and one of the authors of the study. “Connecting with people in similar situations can be very helpful with managing their disease on a daily basis.”
Patients who were connected to other FCS patients also reported that they felt greater motivation in managing their health. That’s noteworthy for a disease such as FCS, which requires patients to adhere to a strict and difficult-to-follow diet. As one patient in the study said “this group allows me a voice and freedom to know it’s not just me, I’m not alone. This has incentivized me to take an active role in my health again.”
The study noted that the primary barrier to connecting patients to others was the lack of referral to a specific group from a physician and lack of awareness of such resources. Given the value of these connections in improving health of patients, the authors say that allocation of additional time by physicians to encourage their patients to become actively connected with FCS support groups has the potential to yield more pronounced improvements.
While the study looked at a small sample size and relied on retrospective self-reporting of patients, the findings are in line with other similar studies of breast cancer and HIV patients. It suggests patients should make efforts to find disease-specific support groups and doctors would also serve their patients well by encouraging them to do so.
In June, the FCS patient Middleton began connecting to other FCS patients. He now stays in touch with several others through email and Facebook. That, he said, has made a difference for his life with the condition.
“I have so much more support and I am so much more determined to cope with all the symptoms and everything that goes with this,” he said. “I feel more empowered knowing there are other people you can talk to who are on the same journey you are on with the disease and have some of the same stories you have in regard to their journey with FCS.”
August 8, 2018
Photo: Charles Alvin Middleton