ing a mechanism to recruit for research studies and clinical trials.
It also helps put the disease on the map for researchers studying
cures, causes, and treatments for this disease and the dozens of
other conditions it’s related to. At first, O’Boyle was tentative to
commit to the offer.
“I said ‘I don’t even know what a registry is. I’ll do a newslet-
ter or raise money, but research isn’t my thing. I don’t think it
[research] will help my daughter in her lifetime. I’m not inter-
ested,’” O’Boyle says. “Finally, I asked her [the other mom] if
she was asking me because I live near the National Institutes
of Health, and she said ‘Yes. We need someone who can go to
meetings and learn more about what we need to do.’ I’m the
least likely parent to be thrown in the deep end of data. Back
then, I didn’t know what Big Data was, or what a registry was,”
O’Boyle admits with a laugh.
But 18 months later, with the help of a registry “boot camp”
sponsored by the Genetic Alliance, the Phelan-McDermid
Syndrome Foundation launched the first Phelan-McDermid
Syndrome International Registry, where O’Boyle is listed as
the principal investigator, a full-time volunteer position.
Creating a New ICD- 10 Code Often Improves Rare Disease Research
RARE DISEASES LIKE Phelan-McDermid Syndrome are at
a disadvantage when it comes to capturing the attention of
researchers and the organizations that fund them. But that
doesn’t mean the money isn’t there for potential research,
or that the people living with these diseases aren’t worthy
of attention. While a disease doesn’t need to have an ICD-
10 code to officially be recognized by insurance companies,
physicians, or specialty societies, having a code makes it
easier to research.
That’s why it always bothered Trish Stoltzfus, CCS, CDIP,
system director, coding and HIM systems, at the University
of Pittsburgh Medical Center, Pinnacle, that there was no
code for the rare autoimmune disease her 24-year-old son
Travis suffers from, called primary sclerosing cholangitis
(PSC). PSC is a chronic liver disease of the bile ducts.
Stoltzfus says that in the days of ICD- 9, she assumed
there would be a shiny new code for PSC when ICD- 10
was finally implemented. When it wasn’t included, she
was disappointed but moved on. Then, when she attended a conference for PSC patients and caregivers, another
woman asked what she did for a living. She responded
with her standard explanation of what HIM is, but really
piqued the other person’s attention when she got to the
part of HIM that included coding. The woman explained
that a researcher in Europe had contacted her about pursuing the creation of an ICD- 10 code for PSC. And with
that, Stoltzfus started researching the code creation process. She soon realized she only had two weeks to create
and submit a proposal for the next meeting of the ICD- 10
Coordination and Maintenance (C&M) Committee, which
is convened by the National Center for Health Statistics
two times per year to vet new codes.
A proposal requires a description of the code being re-
quested, the rationale for why it’s needed, and clinical ref-
erences and literature supporting that request. Stoltzfus
wrote the HIM case, combined it with the clinical case,
and sent it off. Shortly after that, someone from the Cen-
ters for Disease Control and Prevention (CDC) called her
and said the code was being taken off the C&M Com-
mittee’s agenda because there was too much work to be
done in differentiating PSC from totally separate diseases
with similar sounding names and symptoms. With a lot of
last minute maneuvering, Stoltzfus was able to convince
the CDC to put the code proposal back on the agenda.
She then made the trip to present her proposal at the
C&M Committee meeting in September 2017 after study-
ing past proposals for guidance.
Proposals to this committee also undergo a public commenting period, which gives organizations like AHIMA and
other specialty societies time to comment on why they think
a condition does or does not deserve a code.
Sue Bowman, MJ, RHIA, CCS, FAHIMA, senior director
of coding policy and compliance at AHIMA, says there are
all sorts of reasons a code can be rejected. “Sometimes it
has to do with level of detail, beyond what’s needed in ICD-
10 or whatever would be documented in a medical record.
That’s a common rejection. Usually any that don’t fit within
the structure of ICD- 10, outside the scope, or codes that
don’t fit in the system [are rejected],” Bowman says.
Stoltzfus argued that PSC needed its own code because
for too long the diagnosis was only given a catch-all cholangitis code. Additionally, having a PSC-specific code would
help healthcare providers identify PSC in their patients and
recommend appropriate treatment options, as well as reduce confusion in the billing process.
Following her presentation in September 2017, Stoltzfus
waited for several months with no word on her proposal.
Finally, after sending multiple emails to the CDC, she got
word in April 2018 that PSC finally had its own ICD- 10 code:
Stoltzfus says that prior to the approval of the code, if
a doctor in her hospital wanted a report on all of the patients treated for PSC in a given year, she wouldn’t have
been able to run a report. She would have had to give
him a report on all the patients treated under the catch-all code. All that changed with the approval of the ICD-
10 code. Stoltzfus estimates that there are about 30,000
people in the United States with the condition—though
that estimate will be much easier to nail down now that
an ICD- 10 code exists.