Recently, the smoldering embers of conflict in my family's rare disease community have burst into flames over the use of an eponym: Niemann-Pick.
An eponym is a name derived from a person who first discovered a disease or who was otherwise closely associated with its identity. Such was the case for a neurodegenerative condition observed in a child and documented by Alfred Niemann in 1914. He believed that the child's condition was a variant of Gaucher disease, discovered in the 1880s. In 1926, Ludwig Pick, a physician known for his stellar skill in lab science, discovered that the condition Niemann identified was actually a separate disorder, distinct from Gaucher. The new disease was given the eponym Niemann-Pick.
Niemann-Pick was considered a single disease until the 1960s, when physicians Allan Crocker and Sidney Farber ascertained that it was in fact two distinct diseases, each with different disease etiology, progression, and prognosis. Unfortunately, prioritizing loyalty, tradition, and the status quo over the clarity of knowledge that new nomenclature could offer, Crocker and Farber chose a sub-classification system for the two diseases, labeling them Niemann-Pick types A, B, C, and D.
Historically, my son's rare disease has been called Niemann-Pick types A and B. Around 2017, at the recommendation of a strong scientific cohort, and with the support of industry, people with the disease, and their families, it was renamed acid sphingomyelinase deficiency, or ASMD.
Most people with ASMD and their family members, including my son Evan and I, seek to promote the newer name to highlight advances in disease understanding and treatment and to distinguish ASMD from Niemann-Pick type C (NPC).
But to our frustration and disappointment, we have faced stonewalling from physicians, researchers, and leaders in our rare disease community. They insist on continued use of the historic nomenclature, labeling both ASMD and NPC as "Niemann-Pick disease" or the "Niemann-Pick diseases."
While both NPC and ASMD are classified as inborn errors of lipid metabolism, ASMD is caused by mutations in the SMPD1 gene, whereas NPC is a result of mutations in the NPC-1 or NPC-2 gene. Both diseases result in a toxic buildup of sphingolipids, a type of fat, but ASMD is distinguished by a deficiency of the enzyme acid sphingomyelinase, and NPC by errors of cholesterol metabolism. NPC is neurodegenerative, whereas ASMD exists on a spectrum, and neurodegeneration occurs only at the severe end.
Coincidentally, other lysosomal storage diseases characterized by inborn errors of lipid metabolism such as Tay-Sachs, Krabbe, Gangliosidosis, and Gaucher also result in a buildup of sphingolipids. But for good reason, these diseases were not named as sub-classifications of a single disease under one eponym with subtypes such as Gaucher types A through G.
Alexander Woywodt, a U.K.-based nephrologist, recently argued in the British Medical Journal against the use of eponyms in medicine. He notes, "eponyms may have two completely different diseases attached to them," insinuating that there may be serious potential consequences.
Another problem with eponyms is their probable conversion to possessive eponyms (think apostrophe "s," as in Lou Gehrig's disease). Rachael Leung and colleagues noted in a 2020 article that "possessive versus non-possessive forms of medical eponyms" create complications and errors when conducting literature-based research and suggest that researchers "advocate for future nomenclature to be strictly non-eponymous."
In fact, my son and I both hear clinicians as well as members of our own disease group calling both ASMD and NPC Niemann-Pick's. We bristle every time.
Furthermore, given our modern obsession with language brevity and the need for speed in physician note-taking, eponyms are sometimes altered by shortening them. One of our physicians repeatedly lops off the inconvenient "Niemann," referring to ASMD as "Pick's disease," which is an entirely different disease -- it's a type of dementia.
ASMD is a disease name formally recognized by the FDA, NIH, multiple federal government and rare disease agencies, and the World Health Organization. It is therefore frustrating that in his electronic patient record shared across his physician team, my son's diagnosis is recorded as Niemann-Pick type B. We asked three of his specialty physicians to update this diagnosis to ASMD, but nothing changed.
It wasn't until recently that we learned why.
A few months ago, after his primary care physician was dropped by our insurer, my son moved to a new provider, and we made sure ASMD was written on his new-patient information form. Imagine how my son felt when his new doctor's first words to him were, "So ... you have Noo-man Pick." It was cringe-worthy and made a terrible first impression.
During a tense follow-up conversation about disease names, the physician pointed out that the diagnosis code had not been updated in Epic software for medical charting, which still lists ASMD under Niemann-Pick disease, as does the WHO's International Classification of Diseases. These physicians still have a choice about the name they use in their notes and in conversations with us and other professionals, but despite our efforts to educate them about the reasons why the name matters, they don't seem to care.
Still, other doctors such as Borja Mora-Peris and Xavier Bosch get it. They are acutely aware of the problematic nature of eponyms and advocate for change. In their 2010 commentary "Medical Eponyms: Time for a Name Change," they make a valuable point: "Given the problems inherent in naming diseases after people ... it is preferable to name complex syndromes using acronyms that convey the underlying features of the disease." That is exactly what the name ASMD accomplishes. It's easy to pronounce, too.
More importantly, having ASMD is a significant facet of my son's identity. A refusal to honor our preference for this name causes more damage than just frustration and resentment. It also degrades our trust.
Recently, I asked a lab scientist who self-publishes a valuable online digest of newly published ASMD and NPC research articles to change the digest's subtitle from "Niemann Pick Types A, B and C," to "Niemann Pick C and ASMD." Sadly, but unsurprisingly, I didn't hear back.
For my family and others, the name ASMD celebrates a new era marked by access to a long-awaited and highly effective enzyme replacement therapy. To us, the name ASMD is synonymous with progress and hope. We have come a long way since Pick's discovery 100 years ago.
I was hoping to find some reinforcement from the family support organization for ASMD. But much to our disappointment, the organizational decision has been to give our genetic disease's name a fourth and fifth iteration: Niemann-Pick type ASMD and Niemann-Pick ASMD. And in their last two biannual campaigns, executive leadership obliterated references to ASMD in their personal messages to the community, whereas once they had been prominent. When I saw that happen twice, I felt as though we had been erased. There may be legitimate concerns here -- about familiarity, fundraising, cost of website updates. But those problems are minor compared with the continued use of the eponym.
Today I decided to search "Niemann Pick's" online, and Google's AI assistant returned the following: "Niemann-Pick disease (NPD) is a group of rare genetic disorders that cause lipids to accumulate in cells in the brain, liver, and spleen. The disease is also known as acid sphingomyelinase deficiency (ASMD)." That's just not correct, and it gets to something important.
Woywodt distills the case against eponyms when he states, "Eponyms lack accuracy, lead to confusion, and hamper scientific discussion in a globalized world." The WHO officially agrees and discourages their use for any newly discovered diseases (despite the ICD's continued use of Niemann-Pick instead of ASMD). By naming two different diseases with the same eponym, we risk confusion. Confusion is dangerous. Confusion in medicine leads to errors.And that is my biggest concern of all.