Kayla’s Story: A Bright Future Through NIH Research (Spanish captions available)

Kayla’s Story: A Bright Future Through NIH Research (Spanish captions available)


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.

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