A Response To Our Naysayers: Rare Disease Statistics Are Absurd Because They Are Accurate

On the Home Page  of our blog, we state that “Rare diseases affect more people than all cancers plus HIV combined, yet half of the patients do not know what is wrong.” In a recent Reddit string (we were not part of this conversation, but merely stumbled on it), this statistic raised a particular person’s ire, but not for the right reasons, in our opinion.  He/she stated:

“‘Rare diseases affect more people than all cancers plus HIV combined, yet half of the patients do not know what is wrong’…I’m calling BS on this. Well yeah, because … No.”

This person went on in another post to call us “pretty absurd,” following up with the following statement: “It’s pretty basic statistics that researchers do. From this document, we can infer that cancer prevalence is about 4.5% (14.5 million / 318.9 million). It’s pretty absurd to claim that these rare diseases, each of which 50 people have in the whole world, add up to more than 4.5%.”

When someone else stated that it might be feasible, he/she then stated: “No, it’s not really plausible. Given that the source is some layperson’s blog post on the internet, I don’t understand why you’re trying to find a way to give it credence… To give a bit of perspective, how many people have you known who have had cancer? How many have you known with one of these ultra-rare diseases? To broaden this a little bit, in my two clinical years of med school, I saw exactly one case of a rare disease while nearly all of my peers saw none. We all saw hundreds of patients with cancer.”

When someone finally pointed out that this response relied on anecdotal experience, he/she ended with:

“No kidding. And yet it’s stronger evidence than what she [Glenda] gave.”

We will bite our tongues on the lack of civility and arrogance in the tone of these posts, particularly when one considers that it is in response to efforts to raise awareness about rare diseases in general, and to share with the world our story. Others were also skeptical – though none were quite so arrogant. Therefore, we feel it merits a response and to provide the support for our statement. And, for the record, we are trying to make our blog readable, not a series of medical journal articles. Therefore, we are not loading it up with footnotes and citations. That does not mean we do not try to make sure our factual comments are accurate.

Let us clarify this prior statement. … It is correct exactly as worded, “Rare diseases affect more people than all cancers plus HIV combined, yet half of the patients do not know what is wrong.”

To use the words of the commenter, who goes by the user name uicucengineer, “well, yeah, because… yes.”

We “lay” “bloggers” did not originate this statement. You need not give us “credence” to believe it. We first heard it from a neurologist speaking as part of a panel of neurologists and geneticists at the United Mitochondrial Disease Symposium in DC.

Before we repeated it, we actually did some research. This statement is repeated on the Global Genes website  – go to the bottom, under “care about rare” you will see it come up as part of the rolling information. It and the statistics we set forth below, are repeated in many reports and studies. They are simple to find for anyone caring to look before they speak or post – Dear uicucengineer, Google is your friend.

One problem with uicucengineer is that he/she did not bother to educate himself/herself on the definition of “rare disease” before sounding forth. “Rare disease” has an actual definition. It is not just a disease “50 people have in the whole world” as uicucengineer (who claims to have two clinical years of med school) believes. While it is true that such a disease would qualify, in the United States, a condition is considered “rare” if it affects fewer than 200,000 persons (in the US) combined in a particular rare disease group.

Don’t want to take the word of a “lay blogger?” How about Federal law? Forty-two United States Code section 287a-1(c), provides as follows: “For purposes of this section, the term ‘rare disease’ means any disease or condition that affects less than 200,000 persons in the United States.”

There are over 7,000 diseases that qualify. See Globalgenes.org.

The numbers add up.  According to the Global Genes’ website:

  1. 30 million people in the United States are living with rare diseases (this number is supported by the NIH);
  2. This equates to 1 in 10 Americans or 10% of the U.S. population;
  3. Similar to the United States, Europe has approximately 30 million people living with rare diseases;
  4. It is estimated that 350 million people worldwide suffer from rare diseases; and
  5. If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country.

By contrast, according to SEER.cancer.gov, there are currently a little under 13.8 million cancer patients and survivors in the United States as of 2015. That’s right, 30 million versus 13.8 (rounding up).

HIV totals do not make up the 16.2 million difference. The global total of HIV infections is estimated at 34 million, with 1.4 million in all of North America (according to AVERT).

While cancer and HIV rates vary somewhat from country to country, these prevalence rates generally carry through. Cancer and HIV patients and survivors add up to far fewer than rare disease patients. Alone we are rare, together we are common.

Sorry you did not see more of us in your two clinical years at med school, uicucengineer, but we are out there. We are all around you. Please open your eyes and learn about us, what we suffer through, and what we need. Please do not go into medicine if you are not willing to learn and to research before you speak – unknowledgeable medical professionals are already a significant problem to the rare disease world.

Another commenter on this string (was far more civil) and stated:

“I do have a bit of an issue with this statement: ‘Rare diseases affect more people than all cancers plus HIV combined, yet half of the patients do not know what is wrong.’ Well yeah, because cancers and HIV are specific diseases whereas ‘rare’ diseases can be any number of undiagnosable things. I’m not sure what their point is.”

When someone chimed in with some points about funding (thank you 88Wolves, whoever you are), the original poster responded:

“But funding for cancer can be applied across a finite number of diseases, whereas for rare diseases it’s literally anything. It does seem the funding would support increased genetic research which I suppose can only be a good thing, but a ‘rare’ disease is never going to be able to receive the funding that cancer or HIV do because they’re rare.”

This comment makes some valid points, and deserves a response. Here are a few additional facts:

  1. (From Global Genes) 80% of rare diseases are genetic in origin;
  2. (not from Global Genes, but carrying through on the math contained therein) That means of the approximately 30 million people in the U.S. with a rare disease, approximately 24 million have a genetic origin;
  3. (Global Genes) Approximately 50% of the people affected by rare diseases are children;
  4. (Id.) 30% of children with rare disease will not live to see their 5th birthday;
  5. (Id.) Rare diseases are responsible for 35% of deaths in the first year of life;
  6. (Id.) The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases;
  7. (According to the Kakkis EveryLife Foundation) 95% of rare diseases have not one single FDA approved drug treatment;
  8. (Global Genes) During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined;
  9. (According to the National Institutes of Health Office of Rare Disease Research) Approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease;
  10. (Id.) Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease;
  11. (According to the Rare Disease Impact Report) The average time to diagnosis for a rare disease is about 7.6 years in the U.S., and 5.6 in the U.K.;
  12. (Id.) The typical patient goes through 8 physicians before getting a diagnosis;
  13. (Id.) The average patient is misdiagnosed between 2 and 3 times before getting an accurate diagnosis;
  14. Few insurance policies will cover the genetic tests necessary to diagnose these diseases; and
  15. (Id.) While over 90% of rare disease patients/families surveyed had insurance, 55% had uncovered expenses related to the disease, 53% had to spend their savings to reach a diagnosis, 34% had to obtain charitable or public assistance, and 23% had to use their retirement accounts.

While it is true that research into one disease might not benefit another, this is not invariably true and there are many common issues across diseases.

For example, since most of these diseases have a genetic cause, it is important to all of the disease population to have easier, cheaper, and faster access to genetic testing. Insurance companies need to stop refusing to cover these tests and should drop requirements that all non-genetic tests be exhausted before genetic tests are considered. In our case, our daughter went through numerous tests before Whole Exome Sequencing, all because we had no prayer for insurance approval until we did so. These included two MRIs, two skin biopsies, a spinal tap, an EMG, an EEG, an EKG, a genetic ophthalmologist appointment, dozens of blood tests and numerous urine tests. These required our daughter to be anesthetized several times, and some were invasive (EMG, spinal tap, and biopsies). None led to answers, only a misdiagnosis of Infantile Neuroaxonal Dystrophy. The Whole Exome Test required a mere blood draw and gave us a correct diagnosis – a year and a half later and after two insurance denials and appeals and having to live with a misdiagnosis that gave our child a life-expectancy of 7 to 10 years of age. No patient should go through this. With progressive diseases, as many of these are, delays can cause irreversible damage as possible treatments (like EPI-743 and Mitochondrial Cocktails) are not given.  Patients need to be allowed access to the best diagnostic tools available, to have access to the less invasive and better test first, and to the insurance coverage they thought they were paying for, not to have insurance companies delay diagnosis, dictate care, and refuse coverage. With expanded knowledge, with coordination and a gathering of our voices, pressure can be put on insurance companies (or legislation when necessary) to stop these practices.

With expanded genetic testing comes expanded understanding of our genetic code. This may lead to the next generation of medicine, including the genetic bases or susceptibilities toward all diseases.

Government initiatives like the Undiagnosed Disease Program at the NIH and the Precision Medicine Initiative can help spur research and diagnosis.

Some research and treatments can carry across diseases, including stem cell research, genetic therapies, and technologies like CRISPR (or the like).

With expanded genetic testing, screening can become cheaper, leading to treatments at an earlier age and the prevention of unnecessary disease progression.

The government can continue to provide incentives like the Orphan Drug Act to encourage companies to invest in rare disease treatments and research.

Databases with wider access can be created to allow professionals and advocates to make connections themselves.

According to the professionals (as discussed in the Rare Disease Impact Report), physicians are not sufficiently aware of rare diseases. Many have no idea how to spot them or where a referral needs to be made. See also uicucengineer.

Finally, many of these diseases have traditionally been the things that people “just don’t talk about.” The stigma of genetic disease needs to go away. Our rare children are beautiful and the world needs to know about them. See Katherine Belle.

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One thought on “A Response To Our Naysayers: Rare Disease Statistics Are Absurd Because They Are Accurate”

  1. Mr. Med School needs to do two things:

    1) Retake descriptive statistics. Because then he might know that his sample size was WAY too small and there are incredible biases in his method of data collection. Therefore, his conclusions are invalid.
    2) Change his attitude. That attitude is the REASON it takes people so long to get a rare disease diagnosis and they have to see so many doctors to get one. THIS NEEDS TO STOP.

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