Rare Disease: The Movement to Save Lives
It is an honor to speak about the people who search for light no matter how dark it is…These are the patients that enter appointments with files, documents, and lists of information. This information is not to be taken light-heartedly… this information is evidence, knowledge, details of their ailing bodies. This information is how to keep their bodies going. Ironically, they come more prepared to a doctor’s appointment than the doctor they are meeting with. These are the patients where doctors leave the appointment learning more than they did before entering the room.They have to defend their conditions: a result of their cases being so rare, their issues have not been written in textbooks, leaving doctors eager to question things. They put their fate into the hands of researchers and clinical trials. It is not an easy choice to make, but the only option they have. Their fate rests in the hope of the unknown.
These patients are the brave, fierce, and courageous warriors of rare diseases. In America, a rare disease is defined as a disease or disorder that affects fewer than 200,000 Americans at any given time. According to the Rare Disease Day Organization, approximately 80% of rare diseases have a cause that is known to be genetic, while others are a result of infections (bacterial and/or viral), environmental, allergies, or proliferative and degenerative. The profound thing regarding rare diseases is that for the few patients who have the same diagnosis, their symptoms can be entirely different for each individual patient. The symptoms of rare diseases are normally misdiagnosed and mistreated. This malpractice leads to lack of awareness and proper medical action, which can further decrease the patient’s quality of life, and survival time.
When you hear of a disease and hear its symptoms, classifications, and descriptions, you expect the next flow of information to be the treatment or cure. Science and medicine have come far in medical treatments and therapies. Patients are constantly being introduced to new, innovative, and life-saving treatments. Tragically, that is not always the case. With rare diseases, there is the devastating combination of the immense medical challenges rare disease patients face, along with the lack of financial incentives to cure these diseases. The lack of large amounts of patients means pharmaceutical companies have no drive to create treatments and therapies. This combination means for most rare disease patients there is no treatment or cure. Symptom relief and management become the only option left to keep these patients functioning as doctors try to keep them alive.
The results of lack of awareness, knowledge, and medical advancements for rare diseases lead to the consequences that these patients and their families endure daily. The Kakkis Everylife Foundation states 95% of rare diseases do not have a single FDA approved drug treatment. This means only 5% of rare disease patients are given a safe, and proven, treatment for their condition(s). I fall into the 95% of patients who are left with no treatment or cure. All of the medical interventions that have been done for me have been done with no guarantee of any chance of recovery. Every choice has been made in hopes of stabilizing my health, or improving my symptoms. Not curing me, or restoring full health again. This leaves patients and families having to grasp serious choices with little guidance as to right or wrong. Parents are left signing consent with the hopes of a best outcome, knowing it would not cure their child, but hoping it will give them a chance. Before having to get my first ileostomy, we waited from an appointment with my motility doctor in May, until September to make the choice. Emotionally we did not know how to say yes… there was no guarantee it would work, and it was only for symptom management. We had no statistics to help us make a choice. We had no studies of patients in similar situations, or documented cases to compare and contrast. As time went on we were left with no choice but leaping off the cliff, with little guarantee our fall would be cushioned. I reached the point where the entire GI team and head of pediatrics at the Medical College of Wisconsin came in my hospital room and stated quite frankly: without creating an ostomy following that meeting, my colon would perforate. My tearful Mom signed the consent as we heard my passionate surgeon say “its our best shot”, and days later I was on the operating room table. I fell asleep before surgery not with hopes of regaining health, but hopes this would at least stabilize me. I knew the sad reality of having no treatment or cure due to my rarity.
This story of having to decide an impossible choice is one of countless events my family and I have persevered through. Tragically, we are just one family. There are countless others that have to face similar situations everyday. This is one of the infinite amount of reasons why we must raise awareness and advocacy for rare and undiagnosed diseases. Rare and the word “undiagnosed” come hand in hand. Most of these patients, myself included, have a lengthy list of very specific diagnoses. In my case I am currently diagnosed with Intestinal Failure, Chronic Intestinal Pseudo Obstruction, Gastroparesis, Adrenal Insufficiency, Factor V Deficiency, Osteoporosis, Scoliosis, Ehlers-Danlos Syndrome Classic-Like (confirmed TNXB collagen gene mutation), Undifferentiated Connective Tissue Disease, cysts of leaking spinal fluid along entire spine, Structural Autonomic Dysfunction (as well as Postural Orthostatic Tachycardia Syndrome, and Orthostatic Hypotension), Hypothyroidism, Chronic Migraines, Neurological Muscular issues, atrophy of diaphragm, and more. My Chronic Intestinal Pseudo Obstruction, Factor V deficiency, Ehlers-Danlos, TNXB mutation, and more classify as rare diseases. These conditions have made themselves pronounced as progressive as we look at the continuously downward trend of my health. Science states that when there are such a lengthy list of conditions, and multiple rare diseases, there should be an all inclusive diagnosis. Due to lack of research, my all-inclusive disease remains un-diagnosed. Despite our best efforts, it will most likely remain this way for the rest of my life, and that is the case for countless other rare disease patients.
When science and medicine are not advanced enough to give an inclusive diagnosis and treatment for a medically complex patient, it means they are living life against a racing clock. It is a clock that ticks by with chimes of disease progression, lack of symptom management, and relentless schedules of medical care. Rare disease patients have to dedicate themselves to their health. Without taking on the full-time job of medical cares, the lack of understanding for their condition, in combination of the disease(s) itself, can make this clock change too quickly. I have learned to let go of my “old lifestyle” of being a busy teenager, and taken on the role of being my own full-time caregiver. That does not mean its easy to watch my sense of being normal disappear. It has become a necessity to invest myself fully into my health as it is the work that comes from this dedication that keeps my body alive. Without proper care, my extremely detailed pain management plan from my care team, medication schedule, and more would crumble. The result of this care crumbling would mean being admitted to the hospital due to inability to care for myself at home. This is the reality for rare disease patients. They have no choice but to become full-time surgeons, nurses, respiratory therapists, doctors, everything… They must make up for what science has failed to provide them. They must tie together the loose ends, and march on bravely.
I have realized my passion for raising awareness for these conditions and diseases. I want to give a voice and platform to the medically complex patient’s and their families that are left drowning in the reality of not having enough research or awareness. One way of doing this medically is by having signed the paperwork to allow the National Institute of Health’s center in Boston Children’s Hospital rerun my labs periodically to compare it to evolving information to try and find connections. I know the likelihood of the discovery of the answer to my health in my lifetime is very slim. However, I still will dedicate myself to this cause. I dedicate myself for the other patients, patients to come, and those who have lost this battle. I share my story not to receive support or recognition, but to share one of the countless stories of these patients. I share my story to invigorate the scientists and doctors to become more determined to find answers. I share my story to help the other patients feeling lost and alone, to remind them they are never alone. I share my story to help light the path towards awareness, which in turn lights the path towards cures. Cures that were needed years ago. It is the frightening reality of rare disease patients that we are used to having life-or-death conversations with our fellow warriors… it is not okay for a community of patients to be used to seeing their fighter-friends pass away or be left bed-ridden from disease. I share my story to end this vicious cycle.
It is humbling to be a part of this community of patient’s and their families. I have met some of the fiercest individuals ever. These patient’s and their families have untouchable grit, dedication, grace, compassion, dignity, resilience, and countless other traits that make them warriors. I have seen people defy statistics and odds, I have even defied some of these odds myself. The community of rare and undiagnosed patients and their families is a place of solace amidst a horrific war. This community understands and lifts each other up. I fight hand-in-hand with some of the most courageous people. We raise our voices loudly. We know we may not find answers for ourselves, but we are igniting a fire to save the future waves of medically complex patients. I want to ensure the future of another rare disease patient. I want to make sure no patient is ever questioned by medical professionals again. I want to make sure no one endures the medical trauma my family and I have. I want to make sure no family has to be used to having regular discussions about disease progression. It is through these hardships and battles that I have become who I am today. It is these ugly diseases that have shown me the beauty in life. It is the traumatic medical events that lead to the treasuring of precious moments with loved ones. It is the accusations and neglect from medical professionals that motivates my family and I to gain valuable knowledge and information about my conditions. Having a rare disease is the scariest thing in the world, but has lead to everything beautiful I know. And for that, I remain grateful.
However, rare diseases must be given cures. The death toll must stop rising. The suffering demands to be stopped. And the guarantee of a normal lifespan should be a given to every human on this earth. It is now that I humbly ask you to be #AwareOfRare. Together we start the wave to save lives. I follow the campaign to #ShowYourRare to ignite change. I am one of thosands of patients who fight to see a new day. Let us fight together, as together with love and unison, we will create change.
May Our Voices be Heard,
I have worked on a small capsule of a peak into my life. This video is a diary of what encompasses my life 24/7, every day, every week, every month, my entire life until a cure is found. This video has had half of its footage cut out. It is also sped up, at some points up to 8 times as fast. That significant amount of editing is something that is beneficial to the footage, but is not available in real life. No matter how much I desire, like other rare disease patients, I have no breaks or ways to speed up my routine. I spend most of my time doing medical cares. This is why we need more awareness, research, and a cure. The music credit in this video goes to Imagine Dragons, “Whatever it Takes”. Due to technological issues, the video could not be uploaded to this site. However, the full video is on the Facebook page for this blog. The link is in the header bar of the blog to the page, or you may search for “Isabelle’s Fight” on Facebook. My apologizes for this extra step to view the impact footage.
For more information and knowledge (knowledge is power!), like what is in the blog post, please look at the Global Genes Project and the Rare Disease Day page. I ask you to please spread this story of hope, even when the odds are stacked so highly against that very essence of hope. Thank you for all you do… spreading this movement will save lives. I also want to take a moment to thank every nurse, surgeon, doctor, care partner, genetic counselor, technician, medical aid, and countless other medical professionals that have believed my truth and fought along side us to keep me alive as long as we have. Thank you to the medical professionals who fight to give me the best chance I can have, and trying to give me the best quality of life possible. Thank you to this community of finding #ThePeaceWithinTheFight, my local community, my friends, my family, my tribe… Thank you for keeping our spirits alive and thriving. I have eternal gratitude… you make rare less dark. You make rare beautiful, and that is just how life should be/and is: beautiful.