Page 23 - PMCC on the Globe and Mail - 2016 Edition
P. 23
It’s news no parent cardiologist “just to make sure.â€
wants to hear, but They were transferred to the
Brian and Jacqui
Latimer were told that Scarborough Hospital for an
their son, Alex, may ultrasound and found that Alex’s
fall asleep and never aortic root was a little bit dilated.
wake up again. That led them to SickKids for
genetic testing, where Alex was
They lived with that fear diagnosed with Loeys-Dietz
for nearly eight years, until a Syndrome.
collaborative operation between
Toronto’s Hospital for Sick Loeys-Dietz Syndrome (LDS)
Children (SickKids) and the Peter is a genetic disorder that affects
Munk Cardiac Centre (PMCC) the connective tissue in the body,
gave them the opportunity to plan similar in some ways to Marfan
for the future. syndrome. “It may be inherited
from one of the parents or may
Alex is the Latimers’ fifth child, be the result of a new mutation,â€
and he was born at home in says Dr. Maral Ouzounian,
Bowmanville, Ont. The first 24 Cardiovascular Surgeon and
hours were fine. “The birth was Surgeon Scientist at the PMCC.
normal and natural,†says Jacqui.
“He was big, 11 pounds, and we The connective tissue is what
noticed that his feet were clubbed provides strength and flexibility
and his hands were curled. At first to bones, muscles and blood
they thought it was because he vessels. “There are multiple genes
was so long.†in the transforming growth factor
(TGF)-beta family that may be
The next day was the start effected in LDS.†While the genes
of their medical journey. The involved might be different, all
midwife didn’t like how Alex was of them are characterized by the
breathing. The family went to the enlargement of the aorta, the
Markham Stouffville Hospital large blood vessel that moves
for a series of tests and then went blood from the heart to the rest of
to their pediatrician, who said the body. With LDS, the aorta can
Alex was normal but a lot quieter. weaken and stretch, which causes
But he sent them to a pediatric a bulge in the vessel wall known
as an aneurysm. The stretching of
Dr. Maral the aorta can also lead to a sudden
Ouzounian, right, tearing of the layers in the aorta
wall known as an aortic dissection
and Dr. Chris – a catastrophic and sometimes
Caldarone, left, fatal complication of this disorder.
were part of the Once patients are diagnosed with
team approach that LDS, says Dr. Ouzounian, they
helped treat Alex are closely followed with regular
Latimer, far left, MRIs and CT scans of the aorta
who was diagnosed and all of its branches.
with Loeys-Dietz
LDS is usually passed down
Syndrome. through families, but the genetic
testing done on the Latimers
found that neither Brian nor
Jacqui has it. Alex’s LDS was a
spontaneous occurrence. The
Latimers learned a lot about LDS
as a result of Alex’s diagnosis.
“It was pretty daunting at first,â€
says Brian. “I started researching
the genetics and the collagen
factor in his DNA and what it
meant. Then we went from there
to learning about the heart and
the aorta and what imaging can
show you, any symptoms to watch
for. It’s been a real journey trying
to familiarize ourselves with the
terminology and the medical
community and how they work.â€
(Patients or families with LDS or
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