Police and fire sirens usually signify an emergency situation.
Emergency responders are on the way, and our bodies also have
their own emergency responders.
They're part of our immune system.
Now, there's a very serious and rare condition which can damage
our immune system from birth.
Here to shed light on this disease is hematologist and
blood disorder specialist, Dr. Daniel Ambruso, and one of his
special patient families, Brad and Jennifer Smith.
Good morning to all of you.
Good morning.
Thanks for being here.
Doctor, let me start with you.
Since we're talking about an immune system disease, let's
first talk about how our immune system works in our body.
Sure, Olga.
You can think about the immune system as the function of white
blood cells in your body.
You can split it into two main parts.
There's the innate immune system.
These are the first responders you were talking about.
They're like the police or fire, and in fact these are the
neutrophils, so neutrophils function by going to a site of
infection, and when they get there, they try to ingest and
kill the bugs.
There's another set of white cells, lymphocytes and
monocytes, and these are the memory cells.
These cells will make a copy of the microbe, and will help make
antibodies and other kinds of cell responses to the infection.
So, these two parts of the immune system, the innate and
the adaptive immune system are important, and work together to
help us fight infection.
Now, we want to raise awareness on this rare disease.
What it is and what is it called, doctor?
The rare disease is called chronic granulomatis disease, or
CGD.
This is a disease which occurs in about 1 in 200,000 live
births, and the basic defect is in the neutrophils, these first
responders.
They can get to the site of infection and they can ingest
the microbe, but they can't kill it.
They can't make these toxic action radicals like hydrogen
peroxide, and then that results in an increased risk to serious
bacterial or fungal infections.
Can it be life-threatening, doctor?
Yes, it can be, and in the early days it was called fatal
granulomatis disease, because, in fact, many children died at
an early age from serious infections.
But, these days, with new ways of approaching the diagnosis and
the management, the patients who are affected live much longer.
Now, Brad and Jennifer, let me bring you in.
Your son Grady, I know, was diagnosed with this rare
disease, but let's talk about first what happened.
What did you notice?
What symptoms were you seeing that you realized hmm, something
may not be right.
Well, he was getting a lot of low grade fevers in a short
period of time.
I thought it was teething.
Normal.
But it was over the course of a week or so that that was
happening.
Then, what got worse?
He had lymph nodes underneath his chin here got about golf
ball size.
They operated on him.
Teams of doctors would come in to try to find out what was
going on, and then Dr. Ambruso came in and was like "your son
has CGD."
When you hear that, first of all, did you know what it was?
No.
No, and what did you do?
I'm assuming, like a parent, you probably googled what it was.
We googled it and it's terrifying.
It says most children don't make it to the age of 10.
I came to him and he's like "stop reading everything you
see."
Stop reading.
You were scared, as a parent, obviously as a parent, I can't
imagine what was going through your mind.
We were very scared.
You started with fever, golf balls and now you get this
diagnosis.
Now, doctor, they got the diagnosis pretty quick, as a
result of the blood test, which is fabulous.
That doesn't happen in most cases does it?
No, it doesn't, and sometimes the diagnosis can be delayed.
There's a number of different, as we talked about, a number of
different defects in the immune system that can be related to
these types of infections, and there is a screening test for
CGD.
These are called the NBT test, the nitroblue-tetrazolium test,
or the dihydrorhodamine test, and when we looked at the tests
on Grady, we found that his cells did not make any oxygen
radicals or any hydrogen peroxide at all.
There's a genetic connection to this rare disease and
fortunately, thanks to Dr. Ambruso, and today's treatment
options, there is hope for Grady and his family, so stay right
there.
(music).
Welcome back to The Balancing Act.
We're rejoined by Dr. Daniel Ambruso, and one of his special
patient families, Brad and Jennifer Smith.
Doctor, before the break, we were talking about a rare
disease, and the genetic connection to this disease.
Can we talk about that a little bit?
Sure.
CGD is a series of genetic diseases.
The most common mode of inheritance is sex-linked
recessive, and that's where mother's can pass the mutation
for chronic granulomatis disease on to their children.
It's usually males that are affected, so mother's are
carriers, and 2/3 of the patients are actually boys.
With the autosomal types of disease, both boys and girls can
be involved.
Now, we're going to meet Grady and his big sister, Nyah, in
just a minute.
Doctor, what are some of the treatment options today for
Grady and other patients that have this rare disease.
Yeah, the main regimen for these patients is to put them on low
dose antibiotics, to fight off bacterial infections, and low
dose antifungals.
Then, in addition, to treat them three times a week with
Actimmune, or interferon gamma 1-B.
Actimmune, or interferon gamma 1-B is indicated for reducing
the risk of serious infections in patients with chronic
granulomatis disease.
The exact mechanism of action is not completely understood, but
it enhances the function of both the early responders, and also
the memory cells.
This helps to enhance the function of the cells, and it
decreases numbers and severity of infections that these
patients have with bacteria and fungus.
What about side effects with this treatment?
Yes, the most common ones are flu-like symptoms, so fever,
headache, chills, fatigue, sometimes muscle aches, and this
can be reduced by giving the drug at bedtime, and also
treating these symptoms with the administration of acetaminophen.
It's important to know if you have had allergies, either to
interferon gamma 1-B, or E. Coli induced products, and not
to use this drug if you have those allergies.
In addition, this drug can cause reversible changes in the
nervous system, and liver function.
It can also suppress bone marrow function and decrease the
production of white blood cells in the body.
These effects are usually reversible, when this drug is
either discontinued or the dose is decreased.
You should talk to your doctor before you start Actimmune, if
you have had cardiac conditions, if you've had neurologic
disorders, such as seizures, or if you've had reduced bone
marrow function.
In addition, you should consult your physician if you are
pregnant or plan to become pregnant, or to nurse.
Well, I do want to bring Grady and Nyah.
Come in, children.
Look how gorgeous these two kids are.
This is Grady.
Grady, how old are you?
Five.
Five!
And Nyah, six.
Six.
Mom and dad, tell me how he's doing.
He looks great.
He's doing well.
He's very healthy right now, and we're following our treatment
protocol.
Progressing forward, doctor?
Yes, he is.
No severe infections since the first one.
Excellent.
I love hearing that.
I love hearing, Brad, how the community came together to help
you out.
There was so much support for you and your wife during this
difficult time.
Tell me about that.
Some friends set up a fund to help raise some money for us
while we were out of work for a little over a month, taking care
of Grady.
It's a great community that we live in.
And that's what it's all about.
Everybody coming together for a great cause.
Yes.
Thank you for sharing your story and creating awareness.
I do appreciate it, and God bless both of your children.
Doctor thank you for your time and all the knowledge you've
brought here today.
I do appreciate that as well.
And again, if you'd like to log on to CompassForPatients.com or
Actimmune.com, or TheBalancingAct.com for more
information on this rare disease.
(music).