>> Imagine being in fifth grade
and all of a sudden going suddenly deaf in your left ear.
Imagine for years after that,
suffering from chronic sinusitis, chronic tonsillitis,
a variety of medications, seeing many physicians,
and never getting to the bottom
of what really was going on.
That was my life for over 20 years.
>> Narrator: Tara was almost resigned
to a life of endless health issues,
but then she met a doctor who specialized
in solving just this kind of mystery.
>> I heard a lot about Hopkins.
Someone recommended I see Dr. Lippincott,
who is a specialist here, and he recommended
that I see an immunologist named Dr. Antoine Azar.
Hi, nice to see you.
>> So Tara came to see me about two years ago,
she did not have very frequent infections
but when she did get infections, they were very severe.
For someone's whose been sick for years, and years,
and years, to figure out what's been going on,
and how to approach it, what are the best test to diagnose.
The immune system is very very broad.
There are so many different components
that you need to check and look into, and so on.
So it takes quite an extensive time to
to get an evaluation done for these patients.
>> We make advances chiefly when great doctors
and passionate patients with rare diseases come together.
And with that combination,
we end up learning something about the biology.
And usually that also leads us to discover that
the disease we thought was really rare, isn't quite so rare.
>> Narrator: Finally the diagnosis,
Adult Primary Immunodeficiency,
it's a disease caused by genetic abnormalities
in your immune system.
An imbalance between the bacteria in your body
and the bacteria in the environment outside of your body.
We live with bacteria and different kinds of
micro-organisms everywhere around us.
In the soil, whenever we touch stuff,
there's stuff everywhere.
But most of us, do very well with that
and we don't get sick.
But if we do not have a good immune system
or immunodeficiency, that's where we no longer
can have this normal balanced relationship.
Part of this misconception is that people
don't think much about immunodeficiency
when there's an adult patient coming with
frequent illness and infections and so on.
And because of this, there's a significant delay
in having these patients diagnosed.
On average, some patients wait for about nine years.
And even more, before finally, somebody
makes a diagnosis of immunodeficiency.
>> By the time people come here,
they're exhausted, and or have seen
so many specialists, and they are coming here
just praying that it's the right place to be.
Everyone wants an extremely intelligent physician,
that's a given.
But to find someone who genuinely cares,
and is kind and listens,
is a whole 'nother aspect of healthcare,
much harder to find and really rewarding
to be a part of his team.
>> I got a chance to ask him a
about all of the questions that I've had.
Which is the first time I'd ever
ever met a physician that could put
some of these puzzle pieces together.
>> If you have adult immunodeficiency,
there are very few places in the world
that have the expertise, to evaluate you,
diagnose you properly, and treat you properly.
And there are even fewer places,
that have the capacity to bring other scientist in,
to ultimately shine a light on the biology of this problem.
The possibility of curing these diseases
is a really big deal.
>> It's something that I think
healthy people take for granted.
To day in and day out, know that I'm gonna wake up
and I'm going to be feeling okay.
To be able to go out into the world.
That's amazing.
(light music playing)