The impact of treatment access on well-being of patients living with a rare disease: reflections from lived experiences of patients with Familial Chylomicronemia Syndrome

Orphanet Journal of Rare Diseases is proud to present this article by Fiza Javed, a runner-up entry in beacon for rare diseases and Medics4RareDiseases' "Student Voice" contest.

One in a Million Disease with a Million Dollar cure

Many people believe their partners to be one in a million, I found out mine was when he first shared with me that he couldn’t consume fats because of Familial chylomicronemia syndrome (FCS), also known as Lipoprotein Lipase Deficiency (LPLD). A rare recessive genetic disorder characterized by uncontrolled high levels of triglycerides, resulting in potentially life-threatening recurrent pancreatitis and complications requiring hospitalization (1,2). Although hypertriglyceridemia is common, FCS presents earlier in life with a significantly more severe hypertriglyceridemia and long-term sequelae with no effective treatment.

The prevalence of FCS is estimated at 1 in 100,000 – 1,000,000  (1,2). Unfortunately, 48% of FCS patients report being misdiagnosed (3). The lack of awareness of FCS worldwide contributes greatly to patient morbidity. Overall, there is a significant negative impact in physical, cognitive, and emotional domains (3)(4) related to disease and access to care varies by region.

Access to Treatment Options Limited by Research, Cost, and Health Care Systems

Conventional pharmacotherapy for hypertriglyceridemia has minimal to no benefit for FCS (2,5,6). Even with adherence to extremely restricted diet, patients continue to experience pancreatitis and a reduced quality of life (3,5), making patients feel defeated. Glybera, the world’s first approved gene therapy, priced at a million dollars was approved for FCS in Europe. uniQure never sought FDA approval and an efficacious treatment just vanished (7–9). While the EU approved Volanesorsen in 2019, there are no approved therapies in North America (10,11). Despite approval, only few patients are receiving treatment. Rare diseases where many patients know more about their disease than the people treating them ought to be more patient centered and incorporate shared decision making in treatment.

Series of Case Studies: Same disease, different experiences oceans apart

My husband has struggled with recurrent episodes of acute pancreatitis since childhood. He was told “I am making it up” at times. He was diagnosed with FCS at age 13 when he was genetically tested. The only management was a diet limited to boiled vegetables and low-fat proteins for years. In his teens he started supplementing with MCT oil, which positively impacted his mental health as he could now enjoy a greater variety of foods. Unfortunately, he continued to experience painful episodes of pancreatitis and has been refused analgesia for several hours during many visits to the ER. My husband, like many FCS patients who now avoid seeking emergency care for AP, has been falsely accused of being “drug seeking” and/or an “alcohol abuser” by HCPs, before the cause being hypertriglyceridemia becomes clear.

We were excited about gene therapy and felt instantly hopeless when it was discontinued after a single sale at a million dollars. We were looking forward to Volanesorsen, the only drug available which showed significant decrease in triglycerides with no other treatment on the market. Volanesorsen was rejected by the FDA over concerns of thrombocytopenia. Considering the burden of disease and the absolute fear that patients and their families live in of the next attack, we would have made the informed choice to monitor platelet levels than to have no treatment at all.

I have the privilege of knowing several FCS patients through the FCS foundation in the U.S. and Action FCS in the U.K. and reflect on their experiences they bravely shared with me.

A young woman from the U.S who is both a patient and an FCS advocate shares that access to treatment is a constant stressor and has caused substantial worry throughout her life. “I want to get excited when I hear of a new drug but need to remain realistic that it may not work, and in some cases, never be approved and available for long term use” She struggles with keeping positive, worries that there may never be a treatment that fully works and lives in constant fear of getting pancreatitis and having long term health issues.

She expressed her disappointment with FDA’s decision on Volnesorsen. “The FDA seems to have very little understanding of what FCS patients deal with on daily basis. It would have been life changing for patients like myself, who have had numerous episodes of pancreatitis”. She echoes feelings of those who have access in other countries.

A young woman with FCS from the U.K. struggled immensely during her pregnancy, which is a common experience for women with FCS. Despite being a clinician herself, her constant pleas for plasmapheresis were dismissed until 22 weeks of pregnancy when she was admitted to ICU. She battled feelings of loneliness, depression, anxiety and fear for her and her unborn child’s life. She felt unsafe and lost confidence in her medical team.

Access to Volanesorsen has been life changing for her. “Before, I was not in a place to date or meet someone. I really did not care about existing anymore”. Less than a year after being on treatment she felt better, no longer needed sick leave, met her husband, could finally vacation without worrying excessively about her diet or the quality of care available in case of an emergency elsewhere in the world.  “I don’t think I would be here without it. I can feel normal”.

An older patient from the U.K. who has lived most her life without treatment reflects on largely negative experiences and paternalistic approach of physicians. Being an advocate for a better drug approval process she shared:What I haven’t heard is the patient’s lived experiences. They are thinking about facts, figures and numbers. It doesn’t come down to how the patient is, it just comes down to numbers”, feeling frustrated and isolated throughout her life.

Many patients have shared frustration over lack of empathy stemming from limited understanding of how FCS impacts patients’ overall health, work, relationships, and ability to lead a normal life. The common concern is that patients’ voices are not being heard when drug approval decisions with life changing implications are made. Patient autonomy and choice to make informed decisions is eliminated when effective drugs with potentially monitorable side effects are not approved. Variables determining benefit vs. risk disregard quality of life and psychosocial burden of disease. “All they kept looking at were the number of pancreatitis attacks and hospitalizations” several patients shared. Resources can be directed to understanding the significant impact on daily life, disability, higher risk and costs of managing acute complications and chronic diseases, which is the long-term sequelae for many FCS patients.



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