While it's not a rare disease, it's rarely
diagnosed.
that's because it mimicks so
many other diseases.
We're talking about Alpha-1 Antitrypsin deficiency
also known as AAT Deficiency.
it's a genetic disorder that increases your risk for lung
disease.
We traveled to Chicago to learn
more from a renowned expert on the subject
matter but first meet a patient who was
caught totally off-guard by his
diagnosis.
Difficulty breathing and a, 56 year old
Jay Whitmore is not a smoker yet he
was battling infections normally associated with smoking.
His issues began
in 2005 while on a hiking trip in the
Dominican Republic.
Well I was hiking with
friends and my chest got very tight I
had a hard time breathing I know that had a little
congestion, I felt like maybe I was getting
sick but I've never had that chest
tightness and heavy feeling before.
You don't have your
doctors around, you don't ever feel these
symptoms, so at that moment you come back to
the states and you do what?
When I went
to the physcian he diagnosed me with
bronchitis he gave me antibiotics and
then that's when I asked for a chest
x-ray.
He called me two days later the chest
x-ray came back and said I had emphysema,
Emphysema?
Yes.
Surprised?
Totally surprised there
should be no reason why you know at 43 that
I would be diagnosed with emphysema.
Dr. Carl Hogarth a pulmonologist at the
University of Chicago says that's a
familiar reaction for many people
especially when they have no idea that
Alpha-1 deficiency runs runs in the family.
Dr. Hogarth is an expert in pulmonary
diseases including Alpha-1 Deficiency,
also known as AAT deficiency which is a
hereditary condition.
Alpha-1 Deficiency is the name for a
disorder where your body is not
manufacturing enough of a specific protein.
If you take
a breath right now you're breathing in a
lot of different materials in the air: smoke
and and dust and pollens and bacteria and
viruses.
Those things land inside the
lungs, your immune system takes over
fights that you don't get sick.
Alpha-1 is what shuts off all of that
destructive force and if you don't have
enough alpha-1 around then all of these
destroying enzymes are allowed to run
free and so you can imagine that one of
the things that's going to happen
and is a lot of excessive damage to the
lungs because you can't regulate your
body's response to anything foreign
coming into the lungs.
If you're walking
around with not enough protective
enzymes but plenty of destructive
enzymes that imbalance leads to progressive damage to the lungs
overtime or an accelerated damage to the
lungs so the way that manifest is
frequently COPD, and emphysema, and an asthma,
and bronchiectasis, and bronchitis.
You can pick a term, the commonality
here is damage to the airways and damage
to the meat and substance of the lung.
Alpha-1 deficiency is a genetic
condition passed from one generation to the next.
You're born with this deficiency you
inherited one abnormal gene from mom and
one abnormal gene from your father.
The reason of course this is so relevant
is that the carrier rate in the United
States's is actually quite high and if
you think about your own extended family
tree and you realize how many families
marry into your family tree just over
two to three generations you start to
realize that there's a good chance that
another carrier is going to enter into
your family tree somewhere.
As we
mentioned earlier Alpha-1 deficiency
it's hard to diagnose because the
symptoms mimic many other conditions
people present with shortness of breath,
they're coughing, they're having trouble
with exercise, or and simple exercises.
You know, walking around they may
notice that they wheeze occasionally um
that's what frequently does happen as
they're told they have asthma, until they
have COPD or emphysema or bronchitis.
The problem is Alpha-1 manifests as COPD,
or asthma ,emphysema, something that an
average physcian sees several times a
day, every single day.
And Alpha-1 the
actual disease that is buried in the
noise if you will, the disease manifests
at all ages across, all races and
ethnicities ,and presents with multiple
different obstructive type lung diseases
that frequently a physician would prescribe
an inhaler for and in fact the only way
you're going to make this diagnosis
you know I can look at you and I can
examine you and I can swear up and down that
you have Alpha-1 deficiency but
until I do the blood test I have no idea if
I'm correct or if i'm wrong.
Jay Whitmore was
first diagnosed with lung disease in
2004 about four years later and still no
clue that he has AAT deficiency.
Jay met with a pulmonologist and
enrolled in a clinical trial for COPD,
something he read in a waiting room changed his
life forever.
And as I was sitting at the table
getting my pulmonary function test when
that finished I was reading a magazine
and the magazine there was an article on
Alpha-1 antitrypsin deficiency.
I had never heard of it,
I tore out the card where you can order
a free test took the test and it came
back positive for Alpha 1-Antitrypsin
Deficiency.
You learned that it was
genetic did you find out more about the
family tree that would help kind of like
figure things out for you?
Yes my mother was a smoker so she has a
little bit of COPD I don't know if it's
related to the other one but my father is
also a carrier, is asymptomatic he didn't
have any symptoms at all.
Dr. Hogarth says there are some general
recommendations on who should be tested
to rule out Alpha-1 Deficiency.
The key points for the following: Its
anyone with the diagnosis of COPD regardless
of their smoking history.
It's anybody with
the diagnosis of emphysema regardless of
their smoking history, it's anybody with
the diagnosis of Chronic Obstructive
Asthma, clearly people who have family
members with the disorder should be
tested, bronchiectasis, otherwise
unexplained liver disease should also be
another person who's tested,
there's also a rare inflammatory condition of the skin and of the
blood vessels if you have those
disorders you should be tested.
You'll notice over and over that thing I
kept saying is regardless of smoking
history, if you've been labeled with one
of these obstructed diagnosis and you're
on inhalers for these medications
this is the test you need to rule out
this disorder.
Would it shock to learn that
the average Alpha-1 patient goes eight
years and has to see three separate
doctors before someone orders a simple
blood test.
The doctor also says that testing for
Alpha-1 deficiency is not complex nor
expensive.
It can be done with any
form of a blood draw, also think of every time
you've been to the doctor's office and then
they sent you down the hall or
whatever and put the needle in your vein and
tube or two of blood,
well that that's, it's a simple as that.
So anytime you get your blood drawn
you can be tested for Alpha-1 we can
do it even more simple though it can
actually be tested with just a simple poke
to the finger and a few drops of blood
from your fingertips.
It can also be done for free there's
really no excuse.
And Dr. Hogarth says
that for certain patients that have a
severe Alpha-1 Deficiency with emphysema
there's a treatment available for that
as well.
For the correct patient the
management of this disease involves
replacing the deficient protein.
Do you don't make enough so what if we
could put it back into you.
So once a week you receive an injection,
an infusion of the purified protein that
you're missing so that we can raise your
levels back up, try to normalize the
levels of your Alpha-1 protein since
you don't manufacture enough and of
course the alternative, not treating the
disease you have.
How's that an option?
J Whitmore followed
his doctor's advice and modified his
lifestyle, he actually moved from Atlanta
to Florida he says because there's less
pollution there.
How is Jay today?
I'm a lot better.
My lung function still
continues to drop but you know I that take care of
myself i'm pretty healthy
don't let it really bother me too much.
Still active?
Very active.
I ride my bike, walk everyday, go to the
gym, so yeah, and I try to travel to do things
I mean I do have my limitations such as
altitude or smoggy cities but other than
that everything's been going pretty
good.
So there is life after solving this
puzzle?
There is life after solving the puzzle.
And for more information on Alpha-1
deficiency you can visit rule it out dot
org or go to our website thebalancingact.com.
And coming up making
sure you're covered when life throws you those
unfortunate curveballs.
(music.)