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My Patient Story

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Marc

State: California
Congressional District: CA26

Diseases

Eye Disease, Immune Disease, Rare Disease, Skin Disease

Issues and Challenges

Marc has encountered: Access to Expert Providers, Access to Medicine, Copay Issues, Insurance Issues, Medicare / Medicaid Issues, Medical Records Access, Mental Health Access, Rare / Underserved Disease, Surprise Billing, Caregiving, Copay Accumulator, Disability, Financial Assistance, Geography, Invisible Illness, Job Insecurity / Loss, Medical Devices, Non-Medical Switching, Premium Payments, Prior Authorization, Social Security Disability, Step-Therapy / Fail First, Transparency in Health Care, Underserved Community

My Story

I was diagnosed with Mucous Membrane Pemphigoid in 2007. Pemphigoid is a rare, serious, and potentially life threatening autoimmune disorder characterized by painful blistering of the skin and mucous membranes. The blistering occurs because of an immune response that results in autoantibodies attacking the proteins that bind the cells of the skin and mucous membranes together. Open sores left by the blisters increase the risk of infection, which can be fatal if it spreads through the bloodstream.

I first had symptoms in my eye and just thought that I had an eye infection. After seeing several eye specialists who did not know what I had, I began to also have symptoms in my mouth, in my nasal cavity, in my throat, and on my skin. After 2 months, cornea surgery, and seeing several other doctors, I was referred to a dermatologist. After 2 biopsies, it was determined that I had Mucous Membrane Pemphigoid.

Because I have a rare disease, medical and dental professionals are unaccustomed to seeing it in practice. As a result, people like me are often misdiagnosed with having a more common illness that is seen more frequently by healthcare providers. Clinically, many rare diseases can mimic other conditions and are therefore misdiagnosed or go undiagnosed. Laboratory studies, including a biopsy and immunofluorescent studies, are needed to distinguish my rare disease from other blistering and erosive diseases and to achieve a correct diagnosis. These tests are invasive, expensive and not readily available to patients in the U.S.

I then began the long journey of treatment known as step-therapy. I was prescribed high-dose corticosteroids, and an anti-malarial drug. These drugs were ineffective, expensive and just made my quality of life worse with more side effects. They caused uncertainty, fear and anxiety for me and my family as I lost my eyesight and became partially blind, lost my career and professional life, and wondered if I would ever be a productive part of society again. After being hospitalized twice, and undergoing expensive treatments, the financial burden of the disease was immense. My doctors even told my wife to get my affairs in order because they didn't think that I would make it. I wondered if I would ever have the chance to watch my daughters walk down the aisle when they got married or share the joy of being a grandparent with my wife.

My Motivation and Inspiration

Fortunately, I didn’t give up and soon found a community of people with my disease and an even larger community of people living with rare diseases. This gave me hope that I could overcome my obstacles and help others with rare diseases. Advocating for public policies that impact the lives of people living with rare diseases became my source of healing.

Having a rare disease affects people well beyond just their healthcare. Like all people that are diagnosed with a rare disease, I was not prepared for the challenges that came with my disease like; the loss of employment and accessing stable work, the financial hardship, difficulty accessing appropriate healthcare, and the stigma of being a person living with a rare disease.

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