Rare Disease Day is February 28th and it's a great opportunity to get involved and advocate for the countless number of people affected by these conditions. In the United States, a rare disease is one that occurs in less than 200,000 people, but there are estimated to be between 5,000 and 8,000 rare diseases in existence. In honor of this day, I will write a series of posts on the difficulty of having a rare disease, starting at the beginning.
It is easy to ask why we should care about rare diseases if they do in fact afflict a small number of people. This is in fact the unfortunate reality that many of these patients do in fact face, as evidenced by the problems they continue to be burdened by. As it can be noted from the numbers above, the total number of people with a rare disease is by no means small, NORD estimates the number in Americans to be nearly 30 million. There are a number of good reasons for considering them as a category in and of itself.
Patients with rare diseases face a more difficult time from the very start. I am referring to the diagnostic process. A great many patients are forced to wait a long time between the time that symptoms present themselves and the time they receive an official (and correct) diagnosis. This is if they ever receive a diagnosis at all. In order to illustrate why this is the case, it is necessary to take a look at the diagnostic process.
Many people believe that any given disease will always present a specific set of visible symptoms that will allow a doctor to easily identify and treat it. To understand why this is not so, I will use carcinoid as an example.
The majority of carcinoid patients are asymptomatic, and will not present any symptoms at all, even when they have metastasised. This implies a couple of things, but probably the most important is the fact that most people will continue to be diagnosed only accidentally.
The symptoms, known as carcinoid syndrome, occur in roughly 10% of carcinoids. These include include an increased chance of arthritis, heart disease, cramping, cyanosis (bluish skin spots), diarrhea, flushing, and wheezing.
Of these, the most diagnostically relevant is likely to be flushing. Flushing, however, has a multitude of causes. These include, but are by no means limited to: physical exertion, embarrassment, inflammation (which itself has many causes), caffiene consumption, rosacea, and high doses of niacin. The presence of flushing therefore, by itself does not indicate very much, something that is also true of the other symptoms.
There are multiple diagnostic tests to confirm the presence of carcinoid, but a biopsy, in which cells are removed and examined directly, is the only way to be sure. This is because tests typically either measure the effect a disease may have (akin to a 'non-visible symptom') or observe it through imaging techniques such as a PET scan, neither of which are infallible.
It becomes easy to see why diagnosing a rare disease is no easy matter. In order for a doctor to intentionally diagnose carcinoid, a patient must appear with a set of symptoms that indicate a specific disease enough to warrant ordering a test that may lead to a false positive or negative. The odds of a doctor suspecting a disease is almost certainly going to decrease with the prevalence of the disease. In the case of carcinoid, we can see a 10% chance of someone with a tumor presenting symptoms, and among those who see a doctor, a small likelihood that a doctor will see those specific symptoms as indicative of a rare disease and ordering an invasive procedure to confirm.
This is a serious issue, everything that follows diagnosis, including treatment methods, is obviously not an option if noone is aware of the disease in the first place. Fortunately, the situation is not hopeless. Part of advocacy is supporting research that not only includes finding a cure, but also discovering more about diseases and how to detect them early. The Caring for Carcinoid Foundation is steadfast in both, and they, and other organizations like them, require support.
It is my hope that people will recognize rare diseases as the serious problem that it is. Just as people cannot begin treating a disease until it is diagnosed, a problem as serious as this cannot begin to be corrected until it is fully acknowledged.
One way to offer this support is outlined by NORD. People around the country are asking their governors to issue a proclamation supporting Rare Disease Day. Check here to see if your state is included. If it isn't, I encourage you to contact your state's governor. Here is a sample template adapted from NORD:
DATE
Dear Governor:
We are writing to ask you to declare February 28, 2010, Rare Disease Day in [your state]. On that day, millions of people around the world will observe the 2nd Annual Rare Disease Day to raise awareness of these diseases and the special challenges encountered by those affected.
In [your state], thousands of patients, their families, medical professionals, researchers, educators, social workers and others will join in this observance of Rare Disease Day. Rare diseases are those that affect fewer than 200,000 Americans, and there are nearly 7,000 such diseases affecting nearly 30 million Americans, according to the National Institutes of Health (NIH).
Rare Disease Day was observed for the first time in the United States last year and was a great success. This year, Rare Disease Day will be observed by millions of people throughout the U.S. and around the world. We respectfully ask you to consider designating the last day of February Rare Disease Day in [your state] on the basis that:
- Thousands of residents Wyoming are affected by rare diseases, as patients, friends and family, caregivers, physicians and other medical professionals, providers of social services, and researchers seeking to develop safe, effective treatments
- Many rare diseases are serious or even life-threatening
- Most rare diseases have no treatment
- About half of the people affected by rare diseases in the U.S. are children since many rare diseases are genetic
- Research on rare diseases is important because it often adds significantly to the general understanding of more common diseases
People with rare diseases experience certain challenges that occur as a result of the fact that their diseases are rare. These include:
- Difficulty in obtaining a timely, accurate diagnosis
- Limited treatment options
- Difficulty in finding physicians or treatment centers with needed expertise
- Treatments that are generally more expensive than those for common diseases
- Reimbursement issues related to private insurance, Medicare and Medicaid
- A sense of isolation and hopelessness
Rare disorders affect the entire family of an individual patient. Caregivers endure ongoing stress and isolation managing the medical and financial issues that arise. When there is delay in the diagnosis of a rare genetic disorder, siblings may be born with the same condition. When a rare genetic disorder is diagnosed during adulthood, other family members may need to be informed that they may also be at risk…and this may lead to difficult decisions regarding genetic testing, if such testing is an option.
On the basis of all of the above, we hope you will join other governors around the nation in declaring February 28, 2010, Rare Disease Day in your state.
With best regards,
Your name
Your organization
There are also a number of activities and events taking place on February 28th, and they can be found on the Rare Disease Day website that will be linked at the end. Find your own way to support rare diseases, even if it only consists of mentioning it to a co-worker, friend or family member. While it may not seem like much, every new person made aware of the problems posed by rare diseases is another step towards finding a solution. To me, there's something poetic about small groups of individuals banding together to fight against a collection of rare diseases that together pose a great threat.
Some links for your consideration:
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