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.




BOJANMIRKOVIC/DIGITALVISION VECTORS
INCLUSIVE FAMILY
In 2013, she founded A Cure
for Ellie (now Cure LBSL) with
the mission to spread aware-
ness about the condition,
offer support to other fami-
lies and drive research toward
finding a cure. According to
Frigola-McGinn, since they
began their mission, the Cure LBSL team has
raised nearly $3 million dollars for research.

The foundation has also led to the formation
of a strong online community.

For many, an online community is key to
feeling supported on a daily basis.

“I was overwhelmed at first, and scared
to share. But then you see your kid, and
she’s just stronger than what they tell you,”
Vazquez says. “I probably worry about [Vio-
let’s condition] more than she does.”
The future can be uncertain when dealing
with conditions we know very little about,
but through the efforts of parents, doctors
and researchers, science is making promising
strides every day.

Kennedy Krieger neurogenetic specialist
Ali Fatemi, M.D., is one
of the researchers search-
ing for a cure for McGinn,
with research plans ranging
from those that involve new
techniques, from nanomed-
icine to stem cell therapy, to
gene editing.

Meanwhile in Philadelphia, CHOP is
looking at a whole classification of genes
using high-throughput screening (HTS).

HTS allows researchers to quickly con-
duct millions of chemical, genetic or
pharmacologic tests.

According to Frigola-McGinn, these tests
are being used to see which potential med-
ications already in use might also be helpful
for conditions affecting certain genes.

Vasquez knows that even with these
strides, there is still a long fight ahead.

“People have to stay strong, and it is
a fight,” she says. “I love calling our kids
TBCK warriors. That’s what it takes to fight
this rare condition. You really do have to be
a warrior.” T
The future can be
uncertain when
dealing with
conditions we know
very little about, but
through the efforts of
parents, doctors and
researchers, science
is making promising
strides every day.

Parenting isn’t
easy, but there
are strategies
that can help.

Parenting HelpLine: 800.243.7337
familytreemd.org/flip WashingtonFAMILY.com 27