My name is Darlene Ulmet. I live on the Outer Banks of coastal North Carolina and I am a rare disease patient. Before I share my patient story I would like to first clarify the definition of a rare disease.
There is no single, widely accepted definition for rare diseases.
Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.
Quoting from Wikipedia: In the United States, the Rare Diseases Act of 2002 defines rare disease as “any disease or condition that affects less than 200,000 people in the United States,” or about 1 in 1,500 people.
In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people.
The European Commission on Public Health defines rare diseases as “life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.” The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people. Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from their definition.
The definitions used in the medical literature and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.
Confusing? Yes, it is.
And that is why I chose to begin this patient story with the general definition of a rare disease. It is very illustrative of the typical total experience of being a rare disease patient seeking a medical diagnosis and a treatment plan. The information obtained from various sources is often varied and conflicting and it is maddening to try to ascertain the truth of the matter regarding your medical condition and prognosis. There are over seven thousand rare diseases that affect over fifty million people worldwide and I am only one among many.
I first became a rare disease patient at age four years of age when I was hospitalized for fever, swelling and uncontrolled bleeding under the skin. I was diagnosed as having Immune thrombocytopenia. Immune thrombocytopenia, also known as immune or idiopathic thrombocytopenic purpura and often referred to as ITP, is a rare bleeding disorder characterized by a low amount of platelets in the blood. Platelets are needed for clotting of the blood. In patients with ITP, a person’s own immune system creates antibodies that mark healthy platelets as “foreign substances” and then mistakenly attack and destroy them. As an autoimmune disease that results in the destruction of platelets, patients with ITP have a tendency to bleed or bruise. I was successfully treated and then released from the hospital but this would not be the end of my experience as a rare disease patient.
I grew up normally, attended college, received a degree in a technical discipline, married and had children – five of them! Throughout my life, I experienced brief episodes of both pain and fatigue but I did not, at the time, give much thought to the significance of these events as I was progressing through the stages of life successfully. Because the symptoms would often disappear as quickly as they had mysteriously appeared and they caused only minor nuisance interruptions in my life, I did not further pursue any medical investigation but looking back, it is now obvious that I never fully escaped the grip of autoimmune disease attack.
Just as my children reached adulthood and began to leave the nest and my career was reaching its full potential, I began to experience an alarming number of symptoms that caused me grave concern. My lower legs began to discolor in a motley rust colored lace-like pattern. It started at my toes, progressed to cover the entire area which would normally be hidden by an athletic crew sock, and began to spread up my legs eventually stopping, over the course of several years, at just below the knees. I began to experience seemingly random intense pains all over my body and they were of such intensity that normal daily living activities became interrupted. But far worse than the physical manifestations and the associated (I have now learned) pain, were the episodes of extreme fatigue that I experienced.
I recall two events that raised sufficient concern for me to launch a full blown medical investigation. The first event occurred at the University of North Texas in Denton, Texas where I was attending my youngest son’s freshman orientation program. The second event occurred in downtown Dallas, Texas on the return commute home from work. On both occasions, I became so physically exhausted that I could not travel further. At UNT, I missed the luncheon that I had been very much looking forward to attending with my children and in downtown Dallas, I became so weak that I had to sit on the sidewalk leaned against a brick wall (no doubt covered in urine, spit and other bodily fluids) while waiting for the next Dart Rail train.
Thus I began my medical investigation by scheduling an appointment with my primary care physician, Dr. Charles Cook at Bedford Family Medicine in Hurst, Texas. Dr. Cook gave me several referrals including: a cardiologist (to rule out heart disease as the source of fatigue), a sleep study (to rule out sleep apnea and related sleep dysfunctions as the source of fatigue), a neurologist (to rule out several possible neurologic diseases such as Muscular Dystrophy) and a dermatologist (to examine the abnormal skin condition). He also ordered blood work to be performed. But the greatest of all the things that Dr. Cook did for me was to acknowledge the limitations in modern medicine in many circumstances. He introduced me to the frightening world of “there is no cure” and “rare disease” with an honesty and truthfulness for which I will be forever grateful.
I continued to investigate my health condition over the course of several years seeking treatment near and far from home eventually landing at John Hopkins Medical University in Baltimore, Maryland. I recall the day exact day when one of my physicians (I have since come to refer to my medical team as my group of “ologist”) made the final connection that led to the identification of my one of my rare diseases – Cryoglobulinemia. I was describing several examples of recent fatigue incidents and I casually mentioned that “I often can barely make it to work in the morning. Getting dressed alone is exhausting and I find it difficult to get through my morning routine in a timely manner. I used to take the early train and now I can barely make the mid-morning departure. Once at work, I sometimes have difficulty performing tasks that once were very easy for me to execute. And after work, I sometimes feel fantastic!”
Much to her credit, Dr. Costner (a dermapathologist) keyed in on the timing and weather factor and ordered tests for Cryoglobulinemia- a very rare blood disease in which blood proteins thicken as precipitates when the patient is exposed to cold temperatures. She correctly connected the dots regarding temperature and weather in that when I went to work in the morning, I was often exposed to cold weather conditions and at work the air conditioning was blaring but in the afternoon, especially in Texas, the environment had warmed up sufficiently to allow my system to operate more efficiently. She, unlike many physicians, had the insight to look for the “zebra among the horses.” If you are not familiar with that phrase, it is really a quite interesting analogy to rare disease patients. “Zebra is the American medical slang for arriving at an exotic medical diagnosis when a more commonplace explanation is more likely. It is shorthand for the aphorism coined in the late 1940s by Dr. Theodore Woodward, professor at the University of Maryland School of Medicine, who instructed his medical interns: “When you hear hoofbeats, think of horses not zebras”. Since horses are common in Maryland while zebras are relatively rare, logically one could confidently guess that an animal making hoofbeats is probably a horse. By 1960, the aphorism was widely known in medical circles.”
What is it like to be a patient with a rare disease? To put it bluntly, it is living hell. The damage Cryoglobulinemia inflicts on me is not limited to my physical body alone. It affects my mental faculties through decreased concentration abilities and cognitive functioning skills. It has robbed me of a rewarding career. It bleeds over into many other areas of my life also, destroying anything and everything in its path – finances, relationships, and psychological health. Both self-sufficiency and self-esteem are annihilated as one becomes more and more dependent on family, friends and society at large. Private insurance companies long-term disability coverage and governmental Social Security Disability Insurance program payments take years to obtain and are frequently terminated sporadically for months at a time leaving me and other patients like me in further medical and financial distress.
I fight the good fight every single day of my life. I fight for maintaining the best possible health outcome possible with a disease that can turn as angry as the Atlantic Ocean in a nor’easter and wipe me out just as swiftly as the sea takes down an old wooden pier. I fight for funds to keep me from going hungry and homeless – a constant fear that is very threatening and real during times of substantial loss of income. I fight for medical treatment access and expensive medications that will keep my disease from progressing into organ involvement that could prematurely end my life in a very short period of time. I fight for rare disease patients of ANY kind as a patient advocate for rare disease individuals, perhaps selfishly, in an effort to take the focus off myself and identify ONE single reason for living through many difficult painful and exhausting days. I fight for “others” because I am often far beyond having the required energy to fight solely for myself.
I am so very thankful for the Alliance for Cryoglobulinemia, for they have not only provided very important medical information necessary for keeping me as healthy as possible with a rare disease but they have also warmed my heart by reminding me that “I am RARE but NOT alone.”
And I am also very much thankful for each and every day that I can remain on the Outer Banks of North Carolina which is and always has been “my happy place.” In many ways, living on this wonderful sandbar is all that I have left in my happiness tank. I hope and pray that I will be here for many years to come.
Take care, thank you for reading this post through to the end and learning more about what is like to be a rare disease patient, and God Bless!
You are invited to attend, Raise and Join Hands OBX! – a National Organization for Rare Disease awareness event sponsored by the Alliance for Cryoglobulinemia on Saturday, February 28, 2015 on the front lawn at OBX MD, Milepost 2.5. 4721 North Croatan Highway, Kitty Hawk, NC. I will be presenting the North Carolina Governor’s Proclamation of Rare Disease Day at this awareness event. I hope to see you there!