Page 5 - 2020 Summer CMTA Report

A DIAGNOSIS WORTHY OF A TATTOO

BY VITTORIO RICCI
first time I almost passed out dur- I don’t think I’ve
hen I found out that my ing an exam (due to dehydration), completely wrapped my
type of previously unknown so suffice to say it was quite a head around the diagno-
WCMT had been identified, rollercoaster experience. The sis and prognosis for a
I was very excited—partly because biopsy confirmed that one section potential treatment. One
I was finally going to know the of DNA base pairs was missing in thing I’ve learned over
truth after six years of being in the my SORD1 region. the years is that big
dark—and partly because I’d been The results of the study were events can take a while
planning on getting my first tattoo officially published in May in to set in. I’ve spent the
to commemorate the occasion. Nature Genetics. The article past six years reading,
In the past, I visited Dr. Shy’s details the methodology of the listening and speaking
CMT Center for Excellence in study and explains how the muta- about big goals—getting
Iowa to track the progression of tion inhibits enzyme function and a diagnosis, finding a
my disease in order to determine eventually leads to the breakdown treatment. It seems sur-
Vittorio accepting a
its severity and to undergo more of peripheral neurons, which was real to learn the full truth of my Youth of Tomorrow
genetic testing. The scientists there fascinating to the bioengineering condition after so many years of Award with his
mother Jill.
had been sequencing my genome student in me. questioning. It’s just another
and comparing it to all the other Having participated in the example of the great things the
patients in the Inherited Neuropa- study, I read the article with the CMTA community has accom-
thy Consortium registry in an notion that I already knew what it plished and of the many more to
attempt to find the mutation that contained. I had been privy to the come.
caused the neuropathy. progress of the study and how the Another great thing to come?
My third trip to the clinic in mutation leads to neuropathy. I My tattoo—the DNA code that
the summer of 2018 had a differ- was just excited to see it officially includes the SORD1 mutation on
ent purpose: The mutation had published. Toward the end of the my lower leg. h
been discovered on Chromosome article, I was surprised to read Vittorio, 22, is a rising senior at Northeast-
15 in a region titled SORD1. about potential treatments. There ern University. He is currently interning
Intrigued by the diabolical-sound- are drugs currently in clinical trials at Alnylam Pharmaceuticals. Vittorio and
his family, which includes Boston Branch
ing name, I flew out to Iowa for that could jump-start the afflicted
Co-Leader Jill Ricci, have raised well over
my first-ever skin biopsy to con- enzymes, effectively preventing a quarter of a million dollars for CMT
firm the diagnosis. It was also the further damage. research since 2012.

SHOWING THE CMT COLORS

ittorio Ricci isn’t the only one to rep his CMT on his body. Recently, 63-year-old
V Dave Loy got his very first tattoo—a shark with a nerve cell in its mouth and the words
“CMT Will Not Defeat Me” on his arm. As he said, it is not small. He got it because he
wanted to let people know about CMT—and that it’s not going to beat him.
“Within 24 hours of getting the tat, I had five people ask me about it and within the
last week that number has grown to 13,” Dave said, adding, “It has opened the door for
me to tell them about the disease.”
This isn’t Dave’s first venture into creative self-expression to benefit the CMT commu-
nity. When he lived in Iowa he had a vanity license plate that said CMT1A. People often
asked about the plate, giving him the chance to talk to them about the disease. His hope,
then and now, is that using exciting ways to spread the word will encourage others to find
their new way of telling people about CMT.
Dave, who is retired on disability, lives in Independence, Missouri.

SUMMER 2020 THE CMTA REPORT 5