According to DAIC, Akcea Therapeutics Inc., has recently announced their publication of results from their study analyzing patient-to-patient connectivity towards the management of the rare disease familial chylomicronemia syndrome (FCS). As the first study of its kind, the results have huge implications for those who struggle with FCS.
What is FCS?
Familial chylomicronemia syndrome, FSC for short, is a very rare genetic condition that is characterized by the buildup of chylomicrons, which are the proteins that are largely in charge of transporting dietary fat and cholesterol. This buildup of protein eventually leads to high levels of triglyceride in the body, which in turn leads to other complications.
Before FCS is diagnosed, patients usually harbor severe symptoms like pancreatitis and abdominal pain. Because FCS is so rare and that high levels of triglyceride could be caused by a plethora of other reasons, the condition is often misdiagnosed or goes undiagnosed. Additionally, there isn’t a cure or therapy for the condition yet. Most treatment is concerned with disease management. To learn more about FCS, click here.
Given these parameters, it’s definitely a tough condition to face, and many of those who live with it find themselves feeling hopeless.
“FCS has been a significant challenge for me and my family. I have been to the hospital more than 100 times for pancreatitis and had to go on permanent disability. I did not realize that facing these challenges alone was making the burden much more difficult,” said Mark Childers.
Clearly, the support from others who struggle with FCS as well means a lot.
The CONNECT Study
Understanding that a major benefit to those with FCS comes in support from fellow FCS patients, those at Ackea Therapeutics decided to run a study on it.
The executive director of policy and advocacy at Akcea Therapeutics, Alan Gilstrap, explained, “Like many rare diseases, FCS is associated with feelings of isolation and lack of support that can be devastating. We have had the privilege of hearing from many patients and caregivers about the significant benefits that connectivity can provide.”
As a result, “We planned this study to learn more about the experience of living with FCS, but we also hope that these results will inspire more patients and caregivers to take steps to connect with others to share information and offer support either in person or online,” said Gilstrap.
In this particular study, which was the first of its kind, FCS caregivers and patients were given a variety of questions pertaining to their level and feeling of connectivity within FCS-focused organizations and support groups. Along with this, the study analyzed the perceived benefits of these organizations from the perspective of patients and caregivers.
According to the study results, 50 of the responses self-identified as either passively or actively connected or unconnected to any type of patient group. These responders were told to then compare and contrast their quality of life measurements before and after joining an FSC support group or organization.
Those involved with the study who had reported some amounts of involvement in an FSC support organization overall also showed a drastic improvement in the perceptions of their own overall health, emotional state, and disease outlook compared to when they weren’t involved. In addition, FSC patients disclosed that they felt more motivated to be proactive about their health after connecting with an FSC support organization.
The study also found that those who were already actively connected in such groups were also three times more likely to report “extremely high” or “high” motivation to manage their own health. There was a clear positive correlation between the involvement in a support group and the patient’s overall health and wellbeing outlook.
“In many serious illnesses, especially many rare diseases, feelings of isolation and lack of support can affect a patient’s ability and willingness to take steps to manage their health and comply with treatment,” said Dr. David J. Davidson from NorthShore Medical Group. “These new findings reinforce that efforts to help patients connect with other patients should be considered a vital and beneficial factor in the treatment of FCS.”