O C T O B E R 2 0 1 5 O U T P A T I E N TS U R G E R Y. N E T 1 1
Part of the difficulty in reacting to
my son Jake's malignant hyper-
thermia event was where to turn
next. Patients who are concerned
about their own susceptibility or
want confirmation that an episode
they experienced was in fact MH
are often told to undergo muscle
biopsy testing.
That's easier said than done.
I'm a nurse, health-literate and
know where to find resources on
the Internet, but I didn't know where to begin to find out why Jake had an episode and if any
other members of my family were in similar danger. The experts on the hotline of the Malignant
Hyperthermia Association of the United States recommended muscle biopsy testing and told
me where I could go to get it done.
The University of Minnesota is 1 of 5 facilities across the United States and Canada that offers
the service. I scheduled an appointment with an expert there, but the clinic is 3 hours from where I
live, and I had concerns about the risks and cost of muscle biopsy testing, so I also contacted a
genetic testing center at a health system near my hometown. After a counseling session, staff drew
Jake's blood and sent it off for testing to see if one of the known genes associated with MH suscep-
tibility could be identified. Jake was positive for a mutation of the RYR1 gene, the most common
mutation associated with MH. I was tested and also found to have the RYR1 gene mutation.
My advice: Suggest that patients who are concerned about MH first contact a local genetic test-
ing center. It's an accessible and affordable place to start in their quest to determine their MH sus-
ceptibility.
— Kim Scott, RN, MSN
GENETIC TESTING
Determining MH Susceptibility
z DRILL TEAM Testing can identify at-risk individuals, but your
team still needs to be prepared to act when MH isn't suspected.
Pamela
Bevelhymer,
RN,
BSN
