First In Human EP1 (4/6) | Observing Lucy’s Job Syndrome & Bo’s Leukaemia


The NIH certainly has set a precedent for
the rest of the world. Science was not just a responsibility to be
left either to private industry or to the academic sector without support from the government. Today, there are 16-hundred clinical trials
being conducted at Building 10. They encompass everything, from neurological
disorders, to gene therapy, to diseases so rare they impact only a very few patients. Alright, are you gonna stop yourself or shall
I stop you? I can stop myself. Lucy Wiese has one of the rarest diseases
in the world, Job Syndrome. A genetic disorder that affects fewer than
300 people in the United States. Your music is great. Thank you. When Lucy was first born. She was overall healthy, but she had a lot of what seemed to us at the time to be small, unrelated health
issues. She had a lot of rashes, a lot of skin infections. She had a skull formation issue as well and
as she got a little bit older, we saw some gross motor delay. No one really knew what it was. It just didn’t fit any normal mold. I want to see how high I can climb. You can try. Whoa Lucy. Ta dah! I’m taller than you, Mommy. Sure are. When she was three years old, she was admitted
to the hospital with esophageal thrush, which is very uncommon in patients her age who have
a normally functioning immune system. They recognized Lucy’s combination of symptoms
for what they were, Job’s Syndrome. Hello Lucy. Hello Mom. Those born with Job’s have an incomplete immune
system, which can make some infections deadly. Awesome Lu, I love it. By the time we got the diagnosis, it was almost
a relief… Yes. …because it explained so much… I agree. …of what had been so confusing for the past
three years. There is no cure for Job’s. But since Lucy’s diagnosis, she has been observed
and treated at Building 10, which is a leading facility in the world for the study of rare
diseases and has a team devoted to Job Syndrome. Hold it. I’ll get you down. Ooohay! Whooo. After several life threatening infections,
Lucy’s doctors are now confronted with the task of trying to fix her dangerously incomplete
immune system. An immune system is largely the white blood
cells that function to fight off the invaders that come in from the world, the bugs, the
bacteria, the viruses. It should be able to recognize things that
are foreign and attack those things and get rid of them. When immune cells go hopelessly awry, they
can lead to problems almost anywhere. The trials at Building 10 have the potential
to change the course of medical science. In Bo Cooper’s case, that may mean a new way
to fight a leukemia for which there currently is no cure. Doing good, Bo. Over the past six years, Bo has undergone
several rounds of chemotherapy and a bone marrow transplant. Each time his cancer has returned, more resilient
and resistant to standard care. Bo has rapidly progressive leukemia. It is always an aggressive cancer. Unless treated, it goes from small levels
to, you know, lots of cancer in very short periods of time. The surprise was that he came in with a new
fever. Lot of pain. It’s really bad right here. Does it hurt when I rub on your leg? Yeah. It’s worse than it was before. Leukemia’s not fun. Not fun for anyone. There’s major bone aches. You can’t even touch your skin really. Leukemia is a cancer that originates in the
bone marrow, the interior of the bone that produces blood cells. So what we’re looking at here is Bo’s bone
marrow. What we see in this bone marrow is essentially
wall to wall leukemic cells. His leukemia is dividing out of control. 90% of the space of his bone marrow is, is
infiltrated with leukemia at this point. If this goes without treatment, he would likely
not survive more than, you know, weeks to a few months.

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