Page 14 - 2020 Summer CMTA Report

W H Y W E G I V E :

like the CMTA’s Patients as Part- became more aware of the work
ners in Research initiative for the the CMTA was doing, and she
link it provides between CMT and Louis began contributing on
patients and the researchers trying an annual basis. In 2013, Pru
to find a cure for them. began wearing supramalleolar
Pru’s CMT journey began rel- orthotics (SMOs), which sur-
atively late in life. As a child, she rounded her ankles and gave her
was athletic and well-coordinated much-needed support. By 2015,
and the only foreshadowing of Pru was experiencing enough foot
what was to come were several drop and lower leg fatigue that she
ankle sprains. Other than that, she moved to custom carbon fiber
enjoyed all the pleasures of a New braces, which she wears along with
England childhood—ice skating her SMOs.
in the winter and hiking, tennis Pru, now 75, and Abby, now
and soccer the rest of the year. 81,along with Abby’s daughter
In her early forties, though, Reeve Washburn, 56, made a fam-
she developed increasingly pro- ily pilgrimage to Dr. Shy’s clinic in
nounced pronation as the muscles June 2014. Pru, who clearly enjoys
in her feet weakened. She began the nitty gritty of medical research,
wearing custom made a “CliffsNotes”
orthotics, which stood “We make edition of CMT basics
her in good stead for annual gifts for her sister and
many years. After a niece. She still has the
New York neurologist to the CMTA paper towel that Dr.
diagnosed her older because Shy used to explain
ru and Louis Ryan like to sister, Abby Wakefield, we think that the unfolded protein
support organizations that with CMT, Pru fol- response.
“move the needle” in the lowed in her footsteps all the work Not long after
right direction. They and was diagnosed at they do is that family visit, Pru
believe that the CMTA is the age of 42. She was and Louis became
one of those organiza- still relatively symp- important.” aware that another
P tions. That’s why they are tomless, but the family was making a
once again matching another diagnosis didn’t come as a com- substantial contribution for
CMT1B family’s gift for plete surprise, given her sister’s CMT1B research. Inspired by
$300,000, following an earlier diagnosis and the fact that a neu- their example, the Ryans decided
$500,000 match. rologist told their mother that she to match it.
“We make annual gifts to the had some kind of peripheral neu- Louis said that was a water-
CMTA because we think that all ropathy back in the 1970s. In shed moment for the couple.
the work they do is important,” 2005, at the suggestion of Abby’s Although they had previously
Pru said, adding, “We like it that neurologist, she and Pru both had contributed to the CMTA’s
the CMTA supports many aspects genetic testing, which gave them a annual campaign, they decided to
of research and also many aspects more definitive diagnosis of make a more significant gift
of information and support for CMT1B with an MPZ variant because they knew for the first
people who have CMT and fami- H39P. time that they could be more
lies affected by CMT.” In 2009, with the weakness in focused in their giving. While
The CMTA has grown by her lower legs and feet worsening, they wanted to help everyone who
leaps and bounds both in terms of Pru visited Dr. Michael Shy’s clinic has CMT, the idea that it could
research and patient resources, Pru at the University of Iowa for the directly impact Pru’s subtype,
said. She and Louis particularly first time. Through him, she CMT1B, was appealing. They

14 THE CMTA REPORT SUMMER 2020