Bringing Rare Disease to the Forefront

“Be strong, be happy, and enjoy every second of life.”  It’s sound advice under any circumstances, but awe-inspiring coming from one of the 300 million people who live with a rare disease.

Yet it’s the personal philosophy of Catilena, a patient from Spain who lives with what’s known as hATTR amyloidosis. The incurable and degenerative disease is caused by a build-up of abnormal protein in different bodily organs.  It can lead to debilitating cardiovascular, neurological, renal or other symptoms. 

“Living with hATTR amyloidosis is not easy,” Catilena explains, adding, “It is a continuous process of learning and adapting to the changes your body is experiencing.”

The burden of the disease can be severe, impacting both the life of the patient and that of their caregiver. And, like other people with a rare disease, amyloidosis patients can experience a lengthy diagnosis process. There are over 6,000 identified rare diseases, so many primary care physicians may never have heard of a given rare disease. And they may not be able to identify the signs or symptoms. 

Patients with amyloidosis may be misdiagnosed or see five or more physicians before reaching the correct diagnosis. 

Yet reaching a diagnosis as quickly as possible is critical if amyloidosis patients are to benefit from existing treatment options.  While no cure yet exists, several treatments can slow the disease’s progression and protect quality of life.  “The most important thing is to access treatment as soon as possible,” Catilena emphasises.  

Given that amyloidosis and other rare diseases often impact multiple parts of the body, clinicians and patients must shift from treating individual symptoms to a more tailored approach that considers the patient’s full experience.  Different specialists may need to work together.  

Rare disease patients can also benefit from advocacy and support groups.  Catilena, who is involved with the patient group Asociación Balear de la Enfermedad de Andrade (ABEA), says her philosophy is “to learn and ask for help from others.”

The experiences of Catilena and other patients take center stage this February 28 as patients, clinicians, caregivers and advocates come together to recognize Rare Disease Day®. Learn more at RareDiseaseDay.org or get involved online using #RareDiseaseDay.

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