(Music) It can happen for minutes, to
hours or even last for days.
Temporary episodes of
severe weakness or paralysis most often
in your arms or legs.
On today's Behind
the Mystery we're going to talk about a
rare genetic condition called Primary
Periodic Paralysis or PPP.
So rare in fact that it affects 5 to
6,000 individuals in the US.
Here to help us bring awareness about this
disease as a neurologist and professor of
physiology at UCLA Dr. Steve Cannon, who
has done a great deal of medical research on primary periodic
paralysis.
Also joining us today is Linda Feld
patient advocate and Vice-President of
the Periodic Paralysis Association.
Welcome to both of you!
Thank you very
much.
Doctor let me start with you, what
exactly is PPP, it sounds scary.
Yeah well the periodic paralysis are a
group of rare inherited disorders that
cause temporary episodes of severe
muscle weakness or even paralysis and in
the most common forms of this condition
these episodes are triggered by changes
in the potassium level in the blood.
So for hypokalemic periodic paralysis
the potassium level is low in the blood
during an attack whereas in hyperkalemic
periodic paralysis the potassium is high
during an attack.
Now these patients can
have symptoms even between attacks where
there's lingering feeling of fatigue,
weakness, and clumsiness so it's more
than just these episodic attacks and
there can be variations from patient to
patient.
So all races are affected, both
men and women, the onset is usually late
childhood certainly by age 20 and just
about any muscle in the body can be
affected.
So the legs, arms, difficulty
standing sitting and unfortunately for
some later on in the course of the
illness there can be fixed permanent
weakness especially of the legs.
Doctor, do we know why this happens to
people?
The problem resides in the muscle itself
so there's nothing wrong with the nerve
that's bringing the information from the
brain.
This all occurs through electrical
signaling that controls the regulation
of your heart or tells muscles when to
contract.
Which occurs by having salts
like sodium or potassium move in and out
of the cells and this occurs through
microscopic little pores or so-called
ion channels and mutations of ion channel genes
that causes periodic paralysis.
Linda, let me bring you in now to the
conversation.
I think you went through most of your
life undiagnosed which I just can't
imagine how difficult that must have
been.
So can you share with us what it
was like growing up?
As a child you're
pretty much in the hands of your parents,
your parents are taking care of you you
know that maybe you have something wrong
because you aren't as good an athlete as
some of the other children in school.
And you weren’t?
And I wasn’t.
I was always
the last one picked for a team.
When I reached high school I started to
realize that there really was something
different and it came to light one day
specifically when we had a fire drill in
school.
And the fire alarm went off and
everybody else got up and ran out of the
room and I tried to get up out of my
chair and I was stuck.
I literally
couldn't stand up
and I realized wow I'm
having one of these quote unquote attacks.
By the time class was over the
potassium had started to right itself in
my body, I was able to make it to the
nurse's office and my parents came and
picked me up.
Doctor why is this so difficult to
diagnose?
The symptoms come and go and so
by the time the patient comes to medical
attention they might look completely
normal to the physician, or from lack
of familiarity with the
condition.
Performing certain tests can help establish
a diagnosis of periodic paralysis
or rule out other conditions.
For example blood
tests can look for potassium levels or
electrical tests of muscle and now most
importantly the availability of genetic
testing.
It's important to realize that
while finding a mutant gene associated
with periodic paralysis is very informative but that if there's
no mutation found it's still an
open question and periodic paralysis
remains a possibility.
I know that this disease
was passed genetically through my family
and I have tried tracing this disease
back through genealogy and med ical
records that I've collected as far back
as my great-grandfather.
My grandmother was mildly affected, my
father was in a wheelchair, he actually
died of complications due to periodic
paralysis.
And that pushed me towards
trying to find out more about this
disease and help my sister and myself
who both have the disease.
It kind
of solved the puzzles.
Yes, solved a big
puzzle for me, a big puzzle.
Which probably brought some peace of
mind as well!
It did, it did.
Doctor how is this disease
treated?
Well it's important for the
individual to recognize his or her
trigger factors and then work with the
medical team to learn how to minimize
and avoid those events.
In addition to
these lifestyle changes, medications are
now available to help with an ongoing
attack that's already started or to also
prevent and/or reduce the severity of
attacks from even coming.
And Doctor what
triggers this disease?
Well most commonly exercise is a trigger.
Really?
Surprisingly, the episode comes
when you stop to rest after exercise but
in addition it can be triggered by the
amount of potassium in the diet or
carbohydrates, fasting or even cool
temperatures.
Linda how are you today, you look great!
I'm doing very well.
I think you're
doing great!
There there are days when I
don't feel as well as I do on other days
but I have really tried to make my life
centered around periodic paralysis at
this point.
I'm vice-president of the
Periodic Paralysis Association and I
spend a great deal of my time helping
other people who have periodic paralysis
try to find the answers to their disease
because the Periodic Paralysis Association believes that no one
should be alone, that everyone should
have an advocate for them within this
disease.
Raising awareness is very important so
that patients don't have to needlessly
put up with these episodes and not
be able to get any assistance.
It's also important to raise awareness in
the medical community when these
individuals come to the emergency room,
oftentimes there's confusion on what the
best approach is to manage them.
We also think
that if we can reduce the frequency and
severity of attacks they can avoid some
of the later complications of permanent
weakness.
The sooner we get to it,
the better the outcome.
Absolutely.
And I must say the future is brighter.
Now genetic
testing is widely available, advances in
understanding the science is giving us
clues at new treatment opportunities and
finally I'd say that there's a tremendous growth in the
community through social media like the
Periodic Paralysis Association which is
bringing patients and caregivers together
and really creating a sense of
community for these patients.
Thank you so much for
your time, thank you for the information!
And Linda thank you for being such an
inspiration to others who are watching
here today!
Thank you, appreciate it.
And if you'd like more information
about uncovering periodic paralysis, a
genetic testing program for primary
periodic paralysis offered by
StrongBridge Biopharma you can visit
uncovering periodic paralysis dot com and
for more information about periodic
paralysis and resources we've discussed today
you can visit periodic paralysis dot org
or HKPP dot org.
And strong bridge bio dot com.
And as always you can find out more on
our website the balancing act dot
com [Music]