Misunderstood: Raising my voice and awareness for those who are rare
March 2, 2023
One word to describe a patient living with a rare disease is misunderstood.
Rare diseases (RDs) are a severe, chronic, degenerative, and often life-threatening group of conditions. Their impact is often underreported and ranges from psychological and physical symptoms seriously compromising the quality of life. There is then a need to consolidate knowledge on the economic, social, and quality of life impacts of rare diseases.
My name is Susanne. I would like to start by telling you a little about myself. I was born in the United States. I am a 39-year-old mother of three beautiful children. My best friend is a 12-year-old English bulldog named S’more. In 2016 my health took a turn for the worse. I went from being an active happy, healthy, fit 32-year-old female to my health being stripped away and bedridden overnight.
From 2016 to 2018 I spent my time bouncing between doctors, emergency rooms, and in bed. My health continued declining and my weight started dropping significantly. I looked like I was malnourished and starving. Little did I know it was because of a rare disease.
I have lost count to the number of doctor visits, emergency room visits, scans, lab tests, and additional testing, and second third fourth doctor opinions I received. Medical providers have dismissed and medically gaslighting my health over the years. Empathy, strong communication, and shared decision-making are crucial in a patient-provider relationship.
Medical doctors stopped taking my concerns seriously. I decided to fight back and advocate for my health. I began journaling my health, I requested copies of my health records, test results, scans, and kept photographs of my visual symptoms. I became my own specialist.
In 2018, after countless battles with providers I finally had an answer. I was diagnosed with Behçet syndrome. I was relieved to finally have an answer yet devastated at the same time. Fast forward a couple of months and I received a second diagnosis of Idiopathic gastroparesis.
Within a two month time period I went from doctors telling me I was healthy to doctors telling me there is no cure and living with two rare diseases. The only thing a patient should have to fight is their illness never for the support from a medical provider. I have experienced a lack of ‘priority’ in the health system. A majority of doctors lack knowledge and interest in my disease. I have been forced to become an expert on my rare disease.
Sometimes I feel at war with my disease, medical providers, and society. Living with a rare disease can make you feel isolated, lost, lonely, unloved, depressed, hopeless, frustrated, misunderstood, forgotten, and unheard.
In sharing my story I hope to shed light on others who are suffering in the darkness looking for answers. Keep fighting. Until then find your strength from gratitude. It could be the sun shining beaming through your window, a pet who loves you unconditionally, friends, your job, or a rooftop, etc., It’s the little things in life that matter and give you the strength to keep living.
February 28th is Rare Disease Day, but for over 400 million individuals/families, rare disease day is every day for us! Every day I continue to strive and advocate for myself, and the voiceless, raise awareness about rare diseases, and awareness of the importance of health equality for the rare disease community.
Behcet’s syndrome is a rare, chronic, multisystem vasculitic disorder of unknown etiology. Patients are commonly affected by recurrent ulcers, skin lesions, thrombophlebitis, and arthritis. In addition, they may develop sight-threatening uveitis and organ-threatening complications from gastrointestinal, vascular, or neurologic diseases. https://www.behcets.com/
A rare idiopathic gastroesophageal disease (Gastroparesis) characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Symptoms include nausea vomiting early satiety postprandial fullness bloating abdominal pain and in more severe cases dehydration electrolyte disturbances weight loss and malnutrition.
Eosinophilic esophagitis (e-o-sin-o-FILL-ik uh-sof-uh-JIE-tis) is a chronic immune system disease. With this disease, a type of white blood cell, called an eosinophil, builds up in the lining of the tube that connects your mouth to your stomach. This tube is also called the esophagus. This buildup, which is a reaction to foods, allergens, or acid reflux, can inflame or injure the esophageal tissue. Damaged esophageal tissue can lead to difficulty swallowing or cause food to get stuck when you swallow. Visit CURED (Campaign Urging Research for Eosinophilic Disease) for more information.
For information on understanding our pain, please visit this helpful resource.
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