NARRATOR: Meet Kayla, a 10-year-old girl who loves school, horseback riding, running races,
and playing with her friends on the playground. In many ways, Kayla is like most other girls
her age. But Kayla is one in a million. She has a rare disease known as NOMID.
KAYLA: My condition is a rare disease with less than a hundred known cases throughout
the world.
NARRATOR: NOMID is a progressive disease and often fatal. Up to 20 percent of children
with NOMID don't survive to adulthood. But Kayla's prognosis is more promising than that,
thanks to a treatment discovered at the National Institute of Arthritis and Musculoskeletal
and Skin Diseases at the National Institutes of Health. The treatment was discovered by
Dr. Raphaela Goldbach-Mansky.
DR. RAPHAELA GOLDBACH-MANSKY: Well, I've been studying NOMID for the last 10 years, and
NOMID is an acronym: it stands for neonatal-onset multisystem inflammatory disease, and it is
an autoinflammatory disease that occurs in children at birth.
NARRATOR: NOMID is a subtype of a larger category of syndromes known as cryopyrin-associated
periodic syndromes, or CAPS. While NOMID is the most severe form of CAPS, other syndromes
include Muckle-Wells syndrome and familial cold autoinflammatory syndrome.
MS. DORELIA MARTINEZ: I think I knew Kayla needed medical attention really early on.
It was about 4 months after she was born: she started just having a lot of fevers, a
lot of rashes, and really just didn't want to eat and seemed to be always in pain. So
we started going to doctors really early on, and we went to maybe 22 different specialists
her first year of her life. So I knew she needed some help.
DR. GOLDBACH-MANSKY: NOMID is a genetic disease, so it is caused by mutations in a gene called
NLRP3. It's not present in the parents; it occurs actually as a novel mutation in the
children.
NARRATOR: Researchers had found that the mutation in the NLRP3 gene leads to the oversecretion
of a protein called interleukin-1, which can trigger uncontrolled and widespread inflammation
throughout the body. Tests have shown elevated levels of interleukin-1 in NOMID patients.
Based on these studies, finding a way to block the overproduction of interleukin-1 in NOMID
patients seemed to be a promising therapy.
DR. GOLDBACH-MANSKY: We could test that because a medication -- anakinra, or Kineret -- that
blocks interleukin-1 had been approved by the Food and Drug Administration for the treatment
of rheumatoid arthritis. So we were able to access this medication and design a treatment
study to test whether the disease, in fact, is mediated by interleukin-1.
NARRATOR: Based on the outcome of that study, the FDA approved the use of anakinra for NOMID
in just 6 months.
DR. GOLDBACH-MANSKY: So Kayla came to us when she was 15 months of age. Kayla was one of
the few patients who had inflammation in the back of her eye and she had lost vision in
one eye, and in fact she had active inflammation in the back of her eyes. She also had rashes
all over, and she had aseptic meningitis and headaches and was in a lot of pain. At the
time when we saw Kayla first, she had not lost any hearing, which is another feature
of the disease. We started her on the medication, and like all the other patients we have been
treating, the rashes disappear within days or sometimes even within hours of treating
with the medication. Her eye inflammation stopped, she did not require any further treatment,
and she has not lost any further vision.
MS. MARTINEZ: Within 2 weeks of being on the Yahoo group and talking to other parents,
we found out who Dr. Goldbach-Mansky was, what she did. The research -- at that time,
again, we weren't sure if it was NOMID -- and within 2 weeks we were here, and within a
day of being here she was diagnosed. They did blood work, and she had the gene. Within
2 days, we started giving her the Kineret that she takes now every day, the shot that
we give her, and since that day she's never had a rash.
DR. GOLDBACH-MANSKY: Kayla was one of the first patients -- or was in fact the first
patient -- who was younger than the age of 4 who we enrolled into the study. So we could
observe the whole benefit of the drug before permanent organ damage occurred.
NARRATOR: Kayla and her family live in Illinois, and during the family's many trips to the
NIH Clinical Center in Bethesda, Maryland, they are able to stay at the NIH Children's
Inn. Adjacent to the Clinical Center, the Inn is a home away from home for families
with sick children participating in clinical trials or undergoing treatments.
KAYLA: My mom used to tell me, when I was little I used to be in a lot of pain, but
since I've been coming to the NIH and the Children's Inn, I've been feeling a lot better.
And since I've been taking my medicine, I don't get sick very often.
MS. MARTINEZ: We'd like to say thank you to the NIH really from the bottom of our hearts.
It's been such a support system for our family. It's really, really in the rawest sense kept
my daughter alive. I don't think she would be here if it wasn't for the team at the NIH.
It's been a long road, but it's been a good one.
DR. GOLDBACH-MANSKY: So we have followed Kayla now for close to 10 years, and she has not
had any progression of her disease. I have data to be quite optimistic that if we can
continue to block inflammation that the prognosis of this disease might be quite good. Just
to give you an idea, the mortality of this disease has been very high when patients were
untreated, but now we have first patients -- female patients -- who actually start having
their own children, which is something that has never happened before treatment.