Rare Diseases and Being Treatment Ready
William Sarraille, JD, Founder, Sarraille & Associates – The barriers to treatment for people living with a rare disease can be substantial. Challenges such as treatment costs, travel expenses, and medication copay expenses require patients, their family, and providers to plan, secure a diagnosis, and make sure it is documented. But you can put yourself in a position to be “treatment ready” by focusing on a few fundamental steps.
1. Don’t Be Lulled into Inaction
Rare disease patients are often frustrated by the time required for a rare disease treatment to be studied, submitted for review to the Food and Drug Administration, and approved. The arc of the process of drug development and approval can lead patients to miss regular medical visits, not seek specialist care, avoid tests necessary to firmly establish a diagnosis, and take other steps to prepare for treatment.
As a rare disease patient myself, I get it. You may just want to put your disease to the side as much as possible, focus on other things, and live your life.
Unfortunately, as natural as all that may be, it could mean that your treatment is delayed for months or years after a treatment is approved. The reality is that it takes time to become treatment ready and, once the time for a treatment’s approval begins to shrink, more patients start (belatedly) to take the necessary steps. This leads to patients feeling overwhelmed with limited resources and creates treatment bottlenecks.
The problem is particularly substantial in rare diseases that are a consequence of genetic mutations, as multiple family members will simultaneously need to take the same preparatory steps, including genetic testing.
2. Begin Researching Specialist Options
Rare diseases, by definition, involve such small numbers of people affected that even relevant specialists may not be knowledgeable about your disease. To navigate through a complicated healthcare system and the successive referrals that may be necessary to get you to the “right” sub-specialist, it’s both necessary to start early and to be persistent.
Don’t put off to tomorrow what you probably should have started yesterday. The journey to treatment-ready status begins with that first, small step you take today.
3. Be Persistent about Getting a Diagnosis
A critical component of being treatment-ready is having the relevant diagnosis specifically documented in your medical record. Unspecified diagnoses that are unsupported by genetic testing, where that is a component of the recognized diagnostic guidelines, aren’t good enough. Unspecified diagnoses in patients lacking genetic testing mean that your insurance carrier has a ready-made reason to refuse the coverage you need to access treatment.
As an unspecified muscular dystrophy patient for years, I was not ready for treatment. Several years ago, however, with treatments still several years off, additional genetic testing became available. That testing allowed me to be diagnosed with a specific form of muscular dystrophy, fascioscapularhumeral muscular dystropy (FSHD). Tied to a specific genetic mutation that can be definitively diagnosed only based on genetic testing, an FSHD patient, like me, is not treatment ready without that testing and that specific diagnosis.
4. Get the Right Code
Having the “right” diagnosis may not be enough if your medical record does not include the “right” code for that diagnosis.
Diagnoses are communicated in the health care system using a coding system called the International Classification of Disease or ICD system. Payers often insist, at a minimum, that any patient qualifying for coverage for treatment for a rare disease has the relevant ICD code at the required level of specialty documented in his or her medical record.
For me, an FSHD patient that means payers will be looking for the diagnosis code, G71.02 — which is specific to FSHD and does not apply to any other form of muscular dystrophy.
A recent review of a database housing more than 200 million U.S. medical records found only approximately 5,500 patients linked to the G71.02 code. Based on the expected prevalence of FSHD in the United States, there should have been between 13,000 and 20,000 additional FSHD patients in that database, assuming 1 in 8,000 to 15,000 people have the condition.
This, sadly, is strong evidence that most FSHD patients are not ready for treatment. Even when a new definitive, specific diagnosis is made, old unspecified codes could continue to be reported in a patient’s medical record and may be at least part of the reason that there appear to be so many undocumented FSHD patients.
5. Confirming You Are Treatment Ready
If you have a specific diagnosis, but aren’t sure how it is documented in your medical record, what can you do?
You can use two rights under the Health Insurance Portability and Accountability Act (HIPAA): the right to obtain access to your medical record and secure copies of that record, and the right to seek an amendment to your record.
Under HIPAA you can ask your health care provider for a copy of your medical record. Asking for the record of your last visit should be sufficient. The provider generally has 30 days to produce copies. You may be charged for the records request, but only a reasonable cost-based fee. Once you get your record, take a look and see if the code you need is listed.
What if the code you need isn’t recorded?
Have a conversation with your health care provider. It may not be listed because your records haven’t been revisited since the ICD codes were last updated. Maybe your provider requires additional testing before committing to the diagnosis. If you have not yet had genetic testing in a condition that is genetic in nature, your provider might be hesitant to commit to that diagnosis even though you are confident you have it.
A conversation with your provider should clarify the situation.
What if you still aren’t satisfied after speaking with your provider?
Under HIPAA, you have the right to request an amendment to your medical record. Ask your provider in writing to add the desired code to your records. If the provider does not do so, he or she is required to explain why.
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As rare disease patients and caregivers, we must advocate for ourselves and our loved ones. Getting treatment ready is part of that self-advocacy. You can do it. Start today and stick to it. One step at a time.
Special thanks to Analysis Group, a prominent international economic consulting firm that provides expert analysis and testimony on healthcare issues and strategy to leading law firms, Fortune 500 companies, and government agencies, for its claims analysis, which it provided free of charge to inform this article.
Disclaimer: The views, thoughts, and opinions expressed in this blog post belong solely to the author and do not necessarily reflect those of Accessia Health.