On March 25th in 2020, I began to itch. This itch began at my feet and worked its way up to my head. It felt like my skin was burning from the inside out and like a thousand mosquitoes had stung me all over. I chalked my symptoms up to us changing laundry detergents. I began to get new symptoms of exhaustion, nausea, depression and toughed them out until April 5th when we drove to the ER. The ER doctor reported my liver numbers as “astronomical”. Due to this taking place at the beginning of the Covid lockdown and because I was asymptomatic, the doctor released me and had me call my gastroenterologist immediately.
Five days after the initial visit to the ER, my doctor called me in for an emergency liver biopsy. We needed a biopsy to truly see what was going on inside my liver.
My gastroenterologist worked hard on my case to find answers. I received an ultrasound and daily blood draws that week. Each time I had my blood drawn; my reports showed that the liver enzymes had raised by almost 200. I quickly became jaundiced and a brighter shade of yellow each day. I lost taste, smell, remained nauseous, cold, began smelling ammonia, remained incredibly itchy, and was completely exhausted. Five days after the initial visit to the ER, my doctor called me in for an emergency liver biopsy. We needed a biopsy to truly see what was going on inside my liver. I prayed so hard that God would spare my life and searched rapidly through support groups for others who have been through something like me.
My amazing gastroenterologist found an experienced hepatologist and they concluded that I may have had an uncommon adverse reaction to my infusion treatments. I was officially diagnosed with drug-induced autoimmune disease, and I was just so elated to get a diagnosis.
I live my day-to-day life alcohol free, soda free, watch my red meat amounts, take zero medications (aside from an immunosuppressant prescribed by my doctors) and drink a ton of water. It took me almost a full year before I felt normal after my diagnosis. I don’t see a ton of side effects from the 50mg of the immunosuppressant anymore, but it makes me prone to skin cancer and requires me to be more mindful of sun exposure. I get monthly blood draws to check my white blood cell counts and my liver.
I learned that there really wasn’t a community of people with (drug-induced) autoimmune hepatitis on many of the social media platforms. I wondered if there were others out there feeling alone, hopeless and in the dark.
Today, I freely share about both of my autoimmune diseases and try to be available to anyone who needs to hear my story. I believe that sharing my faith, my struggles, finding humour in the ugly and having a community can play such a huge role in a person’s recovery.
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A Rare Patient Voice Case Study
In medical school, students are trained to look for common ailments and not rare illnesses, hence the saying, “When you hear hoofbeats, think horses, not zebras.” However, doctors should not ignore the possibility of an illness being a “zebra.” Those who do risk putting their patients’ health at risk.
However, doctors should not ignore the possibility of an illness being a “zebra.” Those who do risk putting their patients’ health at risk.
At Rare Patient Voice, the experiences and viewpoints of patients and caregivers are valued as vital components in progress towards new treatments and cures. A recent RPV case study on rare disease patients’ diagnostic “odyssey” — a long, complicated journey that inches forward towards a goal — was undertaken with the goal of revealing the effects of delayed and inaccurate diagnoses of rare diseases. Researchers surveyed 3,471 patients and caregivers across 436 rare diseases. Some of the questions asked were how often they had to undergo testing, how many physicians they needed to see, how long they waited to receive a diagnosis, and whether they were misdiagnosed. The results are not representative because of the respondents’ different experiences, but they reveal common issues in the diagnostic process.
Summary of the study:
Recognising the highly varied experiences of the respondents, the researchers focused on the commonalities of their experiences instead of making a conclusive statement about rare disease patients. The study’s key findings:
The average waiting period before patients received a diagnosis is 4.4 years.
The median waiting period is 1.1 years
This data means that half of the survey participants received their diagnosis after just over a year. Many, however, waited for a much longer period, which explains why the average (mean) waiting period skewed to 4.4 years. Other important findings are:
To find the common experiences of the patients surveyed, the researchers analysed the data of 61 diseases that had 10 diagnosed patients. The patients eventually diagnosed with primary immunodeficiency illnesses, ankylosing spondylitis, celiac disease, depression, Ehlers-Danlos syndrome, Fabry disease, mastocytosis, and Pompe disease had a median waiting period of five years and an average waiting period of 10 years. Researchers identified a couple of factors for the long wait:
Multiple testing was necessary
Patients needed to see many physicians
Some were misdiagnosed
The Zebras Do Exist case study highlights some common roadblocks to timely and correct diagnosis: allowing preconceptions about a disease to influence the direction of the diagnostic process, gender biases, lack of awareness about a specific disease, late consultations with knowledgeable specialists, and lack of insurance, among others.
Patients must overcome their fear and avoid being in denial of their condition. They must be vocal when they feel that physicians are inattentive about their symptoms, given the latter’s inclination to “look for horses instead of zebras.” Physicians must be proactive in learning more about rare diseases, their symptoms, and diagnostic procedures.
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The founder of the Visual Snow Initiative, Sierra Domb, tells us about her journey with visual snow syndrome. Sierra struggled to find support and answers for her condition and is now on a mission to make sure no one goes through what she did. Sierra explains how her experiences shaped the charity now providing support, education, and furthering research for visual snow syndrome.
What is visual snow syndrome?
Q. Please can you introduce the Visual Snow Initiative and explain why you founded it?
I had several misdiagnoses and was told I might go blind or even die. I spent years believing this—until I discovered what visual snow syndrome was.
Years ago, I began experiencing symptoms of Visual Snow Syndrome (VSS). Thousands of black dots and flashing lights in my field of vision 24/7 was not normal. I visited numerous medical professionals and underwent years of testing, but no one could provide an answer. I had several misdiagnoses and was told I might go blind or even die. I spent years believing this—until I discovered what visual snow syndrome was. An online article, written by Dr. Peter Goadsby, perfectly described my symptoms. I reached out to him, and he made my official diagnosis of visual snow. He explained how, despite the scientific evidence, many in the medical community were unaware of VSS, and some even questioned its legitimacy. Countless patients around the world were being turned away, undiagnosed, isolated, and void of hope. That thought saddened me deeply. I hoped that fostering education and awareness for visual snow syndrome could reduce the problem. Doctors should know more about the condition, diagnose it, offer helpful resources to patients, and become interested in furthering research. In 2018, I organised the first-ever Visual Snow Conference in San Francisco. Dr. Goadsby and other experts from around the world joined me in presenting facts about visual snow. We shared current research and discussed VSS with those affected, their families, and medical professionals. I continued my mission by founding the Visual Snow Initiative (VSI), a non-profit dedicated to raising awareness, spreading education, and funding worldwide research for VSS.
In 2018, I organised the first-ever Visual Snow Conference in San Francisco. Dr. Goadsby and other experts from around the world joined me in presenting facts about Visual Snow. We shared current research and discussed VSS with those affected, their families, and medical professionals.
Q. I understand your diagnostic journey was difficult. What is the biggest barrier to receiving a diagnosis of VSS?
Another obstacle was clarifying that visual snow syndrome is neurological, not ophthalmological: the parts of the brain that control visual processing operate abnormally.
Previously, the biggest obstacle was a lack of knowledge about visual snow syndrome. The creation of VSI and the distribution of our content internationally has dramatically improved this. We have developed diagnostic criteria for VSS and an online global directory of doctors/specialists so we can direct people to the right specialists and resources. Videos, campaigns, and online content about visual snow further our mission, and VSI has featured in the media and academic articles. We collaborate with doctors and scientists globally to educate and fund research. Another obstacle was clarifying that visual snow syndrome is neurological, not ophthalmological: the parts of the brain that control visual processing operate abnormally. People with VSS do experience visual changes and impairments 24/7, yet their eye examinations typically yield “normal” results.
Q. What was your primary objective in setting up Visual Snow Initiative and how has this evolved?
Firstly, to generate awareness and educate the medical community. We needed them to recognise VSS, learn through our resources and events, and accurately diagnose it. Our information has been translated into many different languages and VSI has now been heard from people in 70 countries. We maintain a worldwide directory of doctors/specialists who now recognise and diagnose VSS. Our global research team of VSS experts collaborate and raise awareness for VSS within their respective fields and communities.
Q. Attracting research in rare diseases can be challenging: what is the current research environment like for visual snow and how does VSI support this?
Visual snow syndrome is not a disease; it is a syndrome or a collection of symptoms. Symptoms can be debilitating, ranging from visual (palinopsia, photophobia, enhanced entoptic phenomena, etc.) to non-visual (tinnitus, depersonalisation, etc.).
The biggest obstacle is a lack of funding. Donations translate to greater awareness and increase the possibilities for treatment and research. The VSI has brought together doctors, researchers, and scientists from around the world who are collaborating. In the future, this collaboration will lead to treatments or, ideally, a cure, for patients. VSI funds research worldwide. Studies are taking place currently in Australia, England, and the USA. In addition to research, the VSI works on near-term solutions and possible treatments. Studies in California and Texas have had positive initial outcomes in reducing VSS symptoms and returning those affected to their previous quality of life.
Q. What can people do to support raising awareness for visual snow syndrome and what advice would you give to others?
There are countless noble causes, but this condition’s severity does not match the attention it has received. Please help spread the word about Visual Snow, follow us on social media, and join the cause by donating! Your contribution makes a difference to people of all ages and backgrounds around the world. To those with VSS, you are not alone—thousands are affected. I really feel people need to hear that because VSS can be isolating and scary. Knowing that someone else understands your experience can keep you going, and this will inspire others too! If someone doubts you, feel confident expressing yourself and using the resources on our website or published studies.
Things may look and feel different, but there are still plenty of things you can do. Focus on what makes you happy. Make some lifestyle adjustments if you must. Look out for your health, both physically and mentally. Focus not on what you cannot do anymore, but what you can do. While the experts work on solutions, shifting your perspective can do wonders.
'Visual Snow Syndrome is a neurological condition that impacts an individual’s vision, hearing, and quality of life. Patients see flashing lights, flickering dots, and static, all of which obstruct their visual field 24/7. There is no relief for them, even when their eyes are closed. Our goal is to help those with Visual Snow live and enjoy their life without fear. Together, we will find a cure!'
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Rare Revolution Editor