Families find
to face genetic
Two policing families with children affected
by rare genetic conditions are among those
to have found support in a national network
established by a police officer’s wife.
STORY BROOKE EGGLETON
POLICE MEDIA UNIT
PHOTOS REUBEN ENNOR
PUBLIC AFFAIRS BRANCH
W
hen her daughter Georgia
was a week old, Patricia
Jonas was told her baby had been
diagnosed with an incredibly rare
condition, involving two duplications
of her fifth chromosome. It is so rare
that Georgia is the only person in the
world diagnosed with the genetic
condition.
One in 10 people across
Australasia will be adversely
affected by a genetic condition
during their lifetime, according to
current estimates.
Genes, which are found
on chromosomes inside our
body’s cells, dictate our physical
characteristics such as height, hair
and eye colour, bone strength and
other regular bodily functions. A
genetic condition can develop when
there is a fault within a gene or
12 PoliceMonthly FEBRUARY 2014
chromosome. While these disorders
can be hereditary, often they occur
without any family history.
After an exhaustive and ultimately
disappointing search for support
and information, Patricia established
the Australian Rare Chromosome
Awareness Network (ARCAN) in 2011.
Having started with just four mothers
and now boasting more than 600
members, the group aims to connect
with other families affected by a rare
chromosomal diagnosis.
Patricia said ARCAN has helped
families share information and
experiences with similar families
that live nearby. This way families
have been able to share information
on where and how to apply for
government funding and where
specialist doctors and specific
therapies can be accessed.
LEFT Patricia Jonas with
her daughter Georgia
RIGHT Imogen and her mum,
Snr Cst Keira Todd, share a laugh
support
conditions
FEBRUARY 2014 PoliceMonthly 13
ARCAN recently held its inaugural
Fundraising Gala Dinner while there
are plans for further fundraising
events including golf days and poker
and trivia nights. ARCAN is also
planning gatherings across each
state, where families can meet one
another and build new networks.
“ARCAN is a place where families
can have a sanctuary with those
who understand, where they can
have peace to grieve and joy to
celebrate,” Patricia said. “It’s become
a home to many who otherwise
have nowhere to go, no one to turn
to and no idea how to get help.”
The Todd family
Snr Cst Keira Todd’s five-year-old
daughter Imogen was first diagnosed
with a rare genetic condition when
she was six months old. Imogen’s
condition has resulted in a raft of
serious side effects including brain
abnormalities, epilepsy, joint and
muscle issues from ataxic cerebral
palsy, autism and sensory modulation
disorder.
“Despite all of these health issues
Imogen is a very affectionate, friendly
and happy child,” Keira said. “She
completely inspires me as she never
gives up and she always bounces
back so quickly.”
Imogen’s condition has also not
been named due to its rarity. There
are currently about 40 people in the
world with her condition, however,
the associated health issues vary
according to the individual.
Keira Todd said that when Imogen
was diagnosed they were given very
little information about the impact
her condition would have on her life.
“Both my husband and I were
tested but neither of us have the
condition,” she said. “The doctors
told us that it was just a fluke thing
that happens and they couldn’t
explain why Imogen would have it.”
After spending time with Patricia
Jonas’s family, Keira became a
member of ARCAN and said it has
felt like coming home to your family.
“So many families whose children
have rare genetic conditions feel so
alone and isolated,” she said. “I want
them to know that they aren’t alone
and ARCAN is here to help.”
She added that the State Crime
Command’s Firearms & Organised
Crime Squad has been fantastic in
allowing her the flexibility to maintain
a career while also caring for her
children. Her husband Matthew is a
detective with the Robbery & Serious
Crime Squad, so they’re constantly
balancing their police careers with
parenthood and family life.
They also have a three-year-old
son with autism, who requires
ongoing medical treatment and
associated therapies.
“I understand how hard it can
be managing a policing career, not
only as a mother, but also as one
with two kids that have special
needs,” said Keira, whose work on
various strike forces has earned
her commendations at the Rotary
Awards.
She hopes that by raising
awareness for ARCAN, there will
be a greater sense of understanding
for other families in similar positions
to hers.
“If people read about ARCAN
and know what it’s about, then
one day they might come across
someone who could benefit from the
organisation,” Keira said.
The Jonas family
Patricia Jonas’s daughter Georgia
requires ongoing physical and
occupational therapy and her
respiratory illness can require
frequent hospitalisation.
She recently turned eight. While
she was diagnosed at a very young
age, her parents had to wait until
she was two years old for precise
testing because the technology did
not yet exist.
The accuracy of testing is
improving every year, Patricia
said, meaning more children and
adults could likely be diagnosed in
the future.
“The microarray testing revealed
that when Georgia’s cells were
dividing they copied a few portions
of chromosome five that were
then added back into the same
chromosome,” she said.
“Often duplicated genes are added
to other chromosomes, so we have a
super rare gem indeed.”
Patricia said it was extremely
difficult to find support,
knowledge and understanding of
her daughter’s condition.
“When your first born child is
disabled, has a condition that no
one knows about and you can’t
explain that to others, you end
up walking a very lonely path,”
she said.
Both Patricia and her police
officer husband Nigel were
placed under an enormous
amount of stress as they
struggled to advocate for their
child without knowing the true
extent of her medical issues.
However, having people accept
their situation did make it just
that bit easier.
“There is a difference between
acceptance and understanding,”
Patricia said.
LEFT Det Snr Cst Matthew
Todd and Snr Cst Keira Todd
have benefited from support
and information from ARCAN
RIGHT Patricia Jonas
established ARCAN to
help families faced with
challenges similar to her own
14 PoliceMonthly FEBRUARY 2014
“Even though many people cannot
truly fathom the stress involved with
raising a disabled child, knowing
that there is that acceptance within
the police, means that we know we
have support.”
At the end of 2010, she met
some other mothers online who
were members of Unique, a rare
chromosome support group in the
United Kingdom. Together they
shared a dream of a similar support
group for Australian families.
A year later she established ARCAN
and now at the end of 2013 the
organisation boasts a membership of
605 people, who have all been either
directly or indirectly affected by rare
genetic conditions.
While no one has Georgia’s exact
chromosome anomaly, Patricia said
the members of ARCAN have faced
similar battles.
“The most wonderful part of being
supported by like-minded people
is that you can rejoice over the
milestones that other families would
likely miss all together,” she said.
“The first time Georgia ever used the
sign for ‘more’ she was sitting on
the swing and wanted me to keep
pushing.
“That was almost seven years
ago now but I will never forget
that moment.
“The ongoing challenges can
become so overwhelming, but when
the milestone is reached and the
goal is achieved the celebration is
astronomical.”
Visit www.arcan.org.au to
learn more about ARCAN
or make a donation.
FEBRUARY 2014 PoliceMonthly 15