INCLUSIVE FAMILY
What is Rare?
D.C. and Baltimore families share their
journey with rare diseases
BY HEATHER M. ROSS
W PHOTO C/O KENNEDY KRIEGER
Inez Vasquez and her 7-year-old
daughter Violet Colone. The family is
working with Kennedy Krieger Institute
to research Violet’s rare disease, TBCK
syndrome. 26
Washington FAMILY
MARCH 2023
hen you hear hoof beats, think
horses—not zebras. This
is what doctors are taught
during their training, meaning that the
first and more likely diagnosis is the one
they should be thinking about. But what
about when it really is a zebra?
This was the case for Inez Vazquez. Her
7-year-old daughter, Violet Colone, is the
first person in Maryland to be diagnosed
with TBCK syndrome.

TBCK is a rare neurogenetic disorder
characterized by decreased muscle tone,
developmental delay and intellectual dis-
ability, but the list of potential symptoms
is long and highly varied.

And the term rare is not used loosely.

“When we think about a rare con-
dition, in general, we’re talking about
conditions that exist in less than 1 in
1,000 individuals in a population,” says
Dr. Mahim Jain.

Jain works with Kennedy Krieger Insti-
tute’s osteogenesis imperfecta clinic.

Osteogenesis imperfecta is a rare genetic
bone condition more commonly known
as brittle bone disease. This condi-
tion puts those with it at a heightened
risk for bone fractures, hearing loss and
teeth abnormalities.

According to the National Institutes of
Health, osteogenesis imperfecta is just one
of more than 7,000 rare diseases.

Violet—now patient ambassador for
the Baltimore-based Kennedy Krieger—
and her mother work with Jain and one
of the syndrome’s co-discoverers, Dr.

Xilma Ortiz-Gonzales, at Children’s Hos-
pital of Philadelphia (CHOP), on Violet’s
treatment. According to CHOP, Violet’s
condition is so rare, there are only 35
reported cases worldwide.

“It’s a hard process, but Kennedy
Krieger helped us a lot — to get our team
together,” Vasquez says.

For children who find themselves with
one of these 7,000+ rare diseases, it can be
a tough journey because their condition is
often harder for doctors to recognize.

“We got [Violet’s] diagnosis when she
was 2. They had to do a special DNA test to
check for it. A lot of insurances don’t cover
it, or it’s not the first test the doctors do,”
Vazquez says.

This is why families touched by rare
diseases advocate for more awareness.

Rare Disease Day, recently celebrated on
February 28, provides visibility and oppor-
tunities for advocacy so they can get the
support they need.

And parents such as Beth Frigo-
la-McGinn are taking an active role in
raising awareness and providing advo-
cacy for a community that too often feels
unheard or forgotten.

Frigola-McGinn was working on Capitol
Hill in Washington, D.C. when she found
out her daughter was diagnosed with a rare
disease, in 2011.

“At first, Ellie met all her milestones,”
Frigola-McGinn explains. “It started with
her not being able to do some things, strug-
gling on the balance beams. I remember
thinking, ‘I hope something’s not wrong.’”
“There is nothing that prepares you [for
it],” she says.

Her daughter Ellie, 14, has a condition
known as LBSL (Leukoencephalopathy with
brainstem and spinal cord involvement and
lactate elevation). LBSL is characterized by
a range of neurological issues. People with
LBSL typically experience stiffness of the
muscles, weakness and difficulty coordinat-
ing voluntary movements. Similar to the far
more common multiple sclerosis (MS), it
affects the myelin sheath, but LBSL is not
an autoimmune disease.

Now Frigola-McGinn uses her political
prowess to dedicate herself to advocacy
full time.