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Caring for Courageous Kids: Advancing Pediatric Sickle Cell Care · Meaningful Medicine with Novant Health

• 0:03
  Amanda Wilde (Host): Meaningful Medicine is a Novant Health Podcast bringing you
• 0:07
  access to leading doctors who answer questions they wish you would ask.
• 0:11
  From routine care to rare conditions, our physicians offer tips to navigate medical
• 0:17
  decisions and build a healthier future.
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  I'm Amanda Wilde, your host, And in this episode we'll look at signs, symptoms,
• 0:25
  And the latest advancements in treatments of pediatric sickle cell disease.
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  Pediatric hematology oncologist, Dr.
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  Felipe Batista, is here to break it down.
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  And Dr.
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  Batista, welcome to the podcast.
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  Thank you so much for being here.
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  Felipe Bautista, MD: Thank you so much for the invitation.
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  Amanda Wilde (Host): To begin with, can you explain what
• 0:43
  sickle cell disease is and how it presents specifically in children?
• 0:49
  Felipe Bautista, MD: Yes, of course.
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  sickle cell is an inherited blood disorder.
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  It's congenital.
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  That is a small genetic change in the hemoglobin.
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  The hemoglobin is a protein that we all have that carries oxygen around
• 1:00
  our bodies inside the red blood cell.
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  So, nowadays, it is, diagnosed on newborn screen, uh, in the United States.
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  Every state screens for this at birth, so we get to diagnose it.
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  as soon as a baby is born.
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  Now this disease can affect, any organ in the body.
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  You know, that change, in the genetic code of the hemoglobin causes that, hemoglobin
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  to like, we call it polymerization, meaning it kinda like it sticks together.
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  makes that red blood cell abnormal, like, Kind of half moon,
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  crescent shape, sickle cell shape.
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  And, it, causes other downline, changes in the biology of things which, increases
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  inflammation, the stickiness of things.
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  The immune system is also involved and it leads to problems.
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  It pretty much any organ in, the body, you know, and as time
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  goes by, that can get worse.
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  In children, as compared to adults, obviously you're just
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  kind of born with it, right?
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  And at the beginning, your body is protected by hemoglobin f
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  fetal hemoglobin that we all have, has no sickle cells in it.
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  That's the vast majority of hemoglobin at birth.
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  So we don't see symptoms right away.
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  But of course you have a family That has a baby with this chronic blood disorder.
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  So there's a lot that goes into that, at the beginning as compared to obviously
• 2:10
  an adult where, it's the actual patient being diagnosed and things like that.
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  Amanda Wilde (Host): So there's screening from birth, but you just mentioned there.
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  maybe no symptoms right away, but what symptoms or complications should
• 2:21
  parents be aware of in younger kids?
• 2:25
  Felipe Bautista, MD: So, again, it takes about four or six
• 2:27
  months for, the hemoglobin.
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  s or the sickle hemoglobin to be the most abundant in the body, right?
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  So during those first few months of life, kids are relatively protected.
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  But, the changes that start to happen, little by little, also right away.
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  So one of the first, things that occurs is that the spleen, the
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  spleen is an organ that we all have.
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  It is a filter for blood.
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  It starts to, trap those sickle cells.
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  The sickle cells get stuck in the circulation in there.
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  and, the spleen slowly stops working very well, little by little, right?
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  So the spleen in all of us protects us against some infections, some important
• 3:03
  bacterial infections that can make us very sick and can be life-threatening.
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  So the first thing that we're always, trying to make families
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  aware of that we're on the lookout for is, Severe infections with
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  what we call encapsulated bacteria.
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  So these things can present with, SEPs seeds, bloodstream infections,
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  meningitis, things like that.
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  So one of the most, important things to, make families aware of or to understand is
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  that, there's, an increased risk of some infections that can be life-threatening.
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  So.
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  at any point in the lifetime of a patient with, sickle cell throughout their entire
• 3:34
  life, if they have a high fever, they always need to be evaluated right away.
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  And that's something that, even some physicians or some healthcare
• 3:42
  providers I'm not aware of, and, we still recommend that, they
• 3:46
  need to be evaluated right away.
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  And, go through a workup, make sure that, there's no, bloodstream, life-threatening
• 3:51
  infection and get treatment, like that.
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  I would say the initial maybe more emphasis that we plays on, on a
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  potential early symptom that we see, but of course, the most common symptom
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  in sickle cell, This is, most people know about the ACS pain crisis, right?
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  So those sickle cells get stuck in the circulation, decrease blood
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  flow to different areas of the body.
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  Of course, your bones.
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  And, it's more complicated than that.
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  there's inflammation, there's other things that go on it, but, in general,
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  pain crises are the most common symptom.
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  And in babies, while the, other things that we can see are like swelling of the
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  hands And the feet, we call it dactylitis.
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  And then there's again, inflammation.
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  That's the way that a pain crisis may present in a little baby.
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  but overall the pain crisis, again, where is the pain?
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  Pain can be anywhere actually.
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  that's another thing that we're on the lookout for, early on.
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  Amanda Wilde (Host): And what treatments or management
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  strategies are currently available?
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  For pediatric sickle cell disease.
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  Felipe Bautista, MD: So, the, field is undergoing an exciting
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  time in the sense that there's more, research than in the past.
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  for a long time these disease was not, at pair with another, with
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  other similar chronic illnesses that.
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  maybe affect more people, in terms of research and things like that
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  affects populations, differences in the healthcare system for minority
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  groups, are well evidence in this disease, unfortunately, And for a long
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  time, we've made progress in that.
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  So it's an exciting time in the sense that there's more research, newer
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  therapies that are coming in And we may, uh, address those in a little bit, but.
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  Traditionally we've had, blood transfusions, to, help
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  manage some of the symptoms.
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  Of course, there comes with a big burden to the family, lots of other potential
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  side effects from blood transfusions.
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  And it is only like, we try to use it more only on the acute
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  issues and things like that.
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  But there's a medication, most people are aware of these, hydroxyurea
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  that has been, used in sickle cell since the 1970s, 1980s.
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  And, it still remains our.
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  Best, outpatient therapy even after all these decades, it still remains our
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  main, least aggressive disease-modifying.
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  medication and, it actually, can be very helpful in most patient's.
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  You know, it's tricky in sickle cell because, there are different types of
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  sickle cell And we, the different types.
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  There's still a lot of variation within patient's.
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  So not everybody responds very well to hydroxyurea, but most people do.
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  And, especially the ones with severe forms of sickle cell.
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  So, hydroxyurea, has been.
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  shown during these decades to prolong life.
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  So extend the life in patient's with severe forms of sickle cell.
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  Imagine is a medication that can make these patient's live longer.
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  So that's something that we found with research, along all these decades.
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  So that's, still very good.
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  It helps by protecting.
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  The damage from sickle cell to the different organs in the body.
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  And, the downside is that, as a medication they have to take every
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  single day for essentially the rest of your life, unless you're undergoing
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  other disease-modifying or, curative transformative therapies, right?
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  So that's a big burden on the patient's.
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  And again, not everybody responds.
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  Even they take it every day, but most people do have a benefit, right?
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  It's not a hundred percent effective, but it helps to decrease, essentially.
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  Most complications from sickle cell.
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  Maybe not all, but most complications, including, those pain crisis.
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  Amanda Wilde (Host): Along with that, early and consistent
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  care can make a difference.
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  In a child's long-term health and quality of life, how have you seen that play out?
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  Felipe Bautista, MD: So, in, pediatrics, right?
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  Uh, we first start dealing with, the parents, with the
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  family, actually throughout most of our, the patient's, right?
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  So we're, there's lot, um.
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  Education, education that needs to go, on and establishing that trust That
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  is so important in healthcare, right, with the patient's family, right?
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  So a baby, imagine that it's just a baby, right?
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  It's just there.
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  And, we're sharing all these, risks that the disease can carry, affect any
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  organ in the body and things like that.
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  So.
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  Just, having a connection with the family is very important.
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  So a lot of our efforts go there in a education, trying for the families to
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  understand, the, risks of the disease.
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  That can be very overwhelming.
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  how to navigate the healthcare system, how to understand what needs to go in.
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  A lot of prevention.
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  A lot of prevention.
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  Prevention.
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  Prevention is what we do mostly on our outpatient visits and, a lot of families.
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  I have hard time understanding that or keeping up with the multiple
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  appointments that are required.
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  So at the beginning it is really again, getting to have that
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  connection with the family.
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  understanding education, what things to look out for and things like that.
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  And also a big component of This is, genetic counseling, some of these,
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  families never had a, member of their families with, sickle cell disease
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  and suddenly have a baby with a severe form of sickle cell disease.
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  What does that mean?
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  So.
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  Having the parents understand, where it came from, the risks, even if there's
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  no family members that were affected, how do you navigate all of that?
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  What does it mean for family planning in the future?
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  So, our goal is not to make decisions or say what do you or should
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  not do, but you know, educate.
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  Parents, with the tools that are there to make decisions for themselves.
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  So for example, You know, you have a child with severe form of
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  sickle cell disease, you plan to have more children in the future.
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  my goal is for people to understand that there are.
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  Things available out there.
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  You know, there's things like in vitro fertilization that you can pursue to
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  prevent having a child from sickle cell, but that's, their decision.
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  it's not that they should or should not do that, but most people are not
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  aware that That is even an option.
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  Right.
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  to people with who are carriers For sickle cell, You know, it
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  typically is about a 25% chance of having a child with sickle cell.
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  So that also means for a family That is a 75% chance of not
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  having a child with sickle cell.
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  So how do you navigate those, decisions?
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  Just, You know, our goal is to empower families, to be armed with the knowledge,
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  to make decisions for themselves and later on, as the Chi children.
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  Continue to grow, right?
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  They start to venture into the early teenage years or sometimes we forget
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  that we did all this teaching with the parents, but we are now have to translate
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  that and communicate it in an easy way to the patient and as they keep growing
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  to the teenager and prepare them.
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  To be empowered on their own because their parents are not gonna be there
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  holding hands, you know, like, forever.
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  And the healthcare system also, it's not as, welcoming
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  or as helpful in this regard.
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  You have to be empowered to really kind of keep going on your own.
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  Right?
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  So all of Those are the challenges of, pediatric sickle cell care.
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  But we, try to do our best.
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  Amanda Wilde (Host): That's interesting.
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  I was just going to ask what comprehensive care that addresses
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  pain management to school support to mental and emotional health look like?
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  Not just for children themselves, but for families.
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  Felipe Bautista, MD: Very good question.
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  So, it takes a village to provide the best care possible for, individuals with
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  sickle cell and, multiple levels, right?
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  So, Important to start early, right?
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  With an expert in sickle cell who at least, you know, it's, involving
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  some regards, some areas of the country, don't have access to a
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  pediatric hematologist near home.
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  So, primary care physicians can play key role also in managing a
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  lot of the, things from sickle cell.
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  But, having an expert who's at least guiding every few months that,
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  unfortunately here in Charlotte, here in our network, we do have
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  a, comprehensive sickle cell center who, has the expertise to.
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  explain they do the education things to look out for and start treatments early.
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  So we started the hydroxyurea at nine months of age in individuals with, severe
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  forms of sickle cell, the milder forms.
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  again, a lot of, patient's do well with the milder forms
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  without a lot of complications, especially during childhood.
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  And, we do follow them a little bit less often, still very closely, but a little
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  bit less often as they're less, likely to run into, a lot of complications early on.
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  But, the comprehensive treatment for children, involves multiple things, right?
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  So not only the education piece, which we actually have, for example, a dedicated
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  sickle cell nurse who, uh, has her own curriculum and kind of tracks, how much
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  progress, we have made with each family.
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  So that's, great to have the luxury of, somebody else, not just the physician or
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  the nurse practitioner or the provider.
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  Do it and kind of track these changes.
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  Right.
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  we have, medications, again, use of hydroxyurea And then vaccines.
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  I didn't talk about vaccines, but they've been so important, so important to.
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  Prevent the infectious complications from sickle cell.
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  You know, we see now much less often those sepsis or things that my mentors
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  used to see and those, deaths from infectious complications, not that
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  they don't happen, but they are much, much more rare is because of vaccines.
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  So we are really like, Hey, we gotta go on with Such an important part of the
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  preventative care and, Recommendations for vaccine can be a little bit complicated.
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  So, it, they keep updating every time and, staying on top of that also
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  requires a little bit of extra effort from providers and, again, where the
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  expertise comes in, but we are fortunate to be able to administer those extra
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  vaccines or those extra doses or boosters, here in our office too.
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  So again, the comprehensive care, not only the specialist, but being
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  able to provide some of these extra things so that the family doesn't
• 12:33
  need to have another appointment with somebody else to get some of these
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  extra interventions that are necessary.
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  another key important component sickle cell.
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  It's screening for, things like stroke.
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  So, sickle cell is one of the most, common, reasons for a stroke in
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  pediatrics And in general, patient's with sickle cell in the adult years
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  that at increased risk of stroke, right?
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  So very important, complication to try to prevent, keep an eye on.
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  So have the ability to do some of the screening tests that we do to Try to
• 13:01
  prevent catch early, things like that.
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  So, for example, there's ultrasounds of, the head called transcranial, ultrasounds
• 13:07
  that are done to screen for the risks of, stroke within the sickle cell population
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  That is already at increased risk.
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  is also recommended to do MRIs, school age years, to screen for silent strokes,
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  you know, uh, smaller lesions that may not be a full-blown stroke, but I have.
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  Big implication for the lifetime of the patient, that can create
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  neuropsychological symptoms, learning difficulties, increased risk of
• 13:29
  the stroke farther down the line.
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  So all of those things are embedded in how to apply them.
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  It is, challenging sometimes, but, uh, we have the ability to do that.
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  Continue with that.
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  Then we do screenings, for.
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  cognitive, development, the learning difficulties.
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  We started doing that not too long ago with the help of, one of our
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  neuropsychologists that we have available here in the network.
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  We have the luxury of having that, that's not available everywhere.
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  And to further kind of, identify those kids who are already
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  having some issues, right?
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  Support them, make sure that we are, addressing the brain imaging
• 14:00
  to see if it's related or not to sickle cell support, and kind of set
• 14:03
  'em up for success in the future.
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  And, the other thing, part of the comprehensive care here ideally, would
• 14:09
  be, the, psychiatric psychological part.
• 14:12
  sometimes chronic pain is a big, problem.
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  Very challenging to treat in some of our patient's.
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  Usually, when you get into more like the teen years, not everybody,
• 14:20
  but some patient's get into.
• 14:22
  this chronic pain cycle That is so difficult to get out of and it needs
• 14:26
  expertise from multiple specialties, but that's something that, ideally, every.
• 14:32
  Centers should have.
• 14:33
  and it is also again, a luxury, right?
• 14:35
  Having a psychologist in the clinic who sees the patient's, you know, at
• 14:39
  the same time of the regular visits, who's an expert in pain, right?
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  I mean, that's again, some of the things that will be ideal.
• 14:44
  And, we don't have it at the moment, but we continue to work
• 14:47
  with the, outpatient services within our network or outside of it.
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  And finally, not to get too long on the days, but, the best comprehensive
• 14:54
  care for these patient's will be like a lifelong, center for sickle cell, like
• 15:00
  the ones that care the lifespan, right?
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  and there are some centers in our country that do that.
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  And what what that means is really your same sickle cell expert seeing
• 15:08
  you from birth until the end-of-life.
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  So your whole life.
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  Your same team, your same provider, your same doctors, same nurse
• 15:17
  practitioners, same nurses at the same center, at the same physical clinic.
• 15:21
  That's, again, dream here.
• 15:22
  You know, we have our adult colleagues who also help us And we
• 15:25
  are trying to, work with what we have.
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  But, it's difficult to accomplish that.
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  But that will be, ideal for this chronic illness.
• 15:31
  And there are some centers who are, doing that.
• 15:33
  Amanda Wilde (Host): You have described a sophisticated set of tools and systems
• 15:37
  for addressing this disease in all of its.
• 15:39
  Facets.
• 15:41
  You also mentioned there are new therapies and research developments on the horizon.
• 15:46
  What are those and are there any curative options that give you
• 15:50
  particular hope for the future?
• 15:53
  Felipe Bautista, MD: Yes.
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  Like I said, I said earlier, it's an exciting time for sickle cell in the
• 15:56
  sense that, there is more research, there is more advancements that are actually
• 16:00
  happening very quickly, and how to implement them is still very difficult.
• 16:04
  So first, well, for a long time we had a cure for sickle cell.
• 16:09
  But that cure, it's, the stem cell transplant or bone marrow
• 16:12
  transplant is another term for that.
• 16:14
  That, has been available since the 1980s when we first realized that
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  it cures sickle cell by chance.
• 16:20
  You know, somebody with leukemia, uh, bone marrow transplant and right cure the
• 16:23
  leukemia And also the sickle cell, right.
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  But anyway, that, process is very complicated.
• 16:29
  It involves chemotherapy, knocking down your immune system, very high-risk
• 16:34
  of complications like graft versus host disease and things like that.
• 16:37
  And while.
• 16:38
  Things have gotten much better, And we are making progress in that field as well.
• 16:42
  there's high-risk of complications.
• 16:44
  So the cost of cure it can be pretty high too right now.
• 16:48
  the field has made advancements in the sense that if, for patient's
• 16:51
  who have, full ceiling who is a full match for something like a cure.
• 16:54
  Curative therapy like a stem cell transplant.
• 16:56
  You know, again, the outcomes are improving and we're
• 16:58
  getting better at that.
• 16:59
  So that's something that certainly we offer or we talk about, right?
• 17:02
  Again, we are the families, the patient's with knowledge to
• 17:05
  make decisions for themselves.
• 17:06
  But if a patient has a full much sibling and has severe forms of sickle cell
• 17:12
  disease, we do, encourage, A referral to a transplant center to talk about, this
• 17:17
  curative therapy Now, newer therapies out there as a lot of people have heard,
• 17:21
  I've been on a New York Times a lot in the press and, things like that.
• 17:24
  And different news outlets is a gene therapy or gene editing,
• 17:28
  some other work for that.
• 17:30
  And I was at the approved a couple years ago, Commercially available
• 17:34
  for kids, in adults, kids older than 12 years of age in adults.
• 17:38
  it's, a very promising, treatment, already giving us, more hope.
• 17:42
  Already transforming the disease in a lot of, patient's, but
• 17:46
  a lot of challenges remain.
• 17:48
  So I'm hopeful, and I'm excited that this will keep going, And we will get to a
• 17:51
  place where it's, more accessible, more affordable, not only here in the United
• 17:55
  States, but in the entire world where most of the patient's with sickle cell.
• 18:00
  Live and, a lot of challenge remain.
• 18:03
  But again, it's an exciting time, right?
• 18:04
  It is, very expensive And it's still, we're trying to work out
• 18:06
  who is the best candidate for that, how to pay for it, and, how do
• 18:10
  we speed things up a little bit.
• 18:11
  But very promising.
• 18:12
  So I am overall very excited about the future for the options that
• 18:15
  we'll have to cure or transform the disease in our patient's.
• 18:18
  Amanda Wilde (Host): Well, with all of this happening, I can imagine parents may
• 18:22
  easily feel overwhelmed by the diagnosis of pediatric sickle cell disease.
• 18:28
  I just wanna end by asking what guidance or reassurance would you
• 18:32
  most want those parents to hear?
• 18:34
  Felipe Bautista, MD: Yeah, the first thing, I mentioned
• 18:36
  it before too, but it's.
• 18:38
  Establishing that trust, having the family And the patient trust the.
• 18:42
  providers who taking care of them, the specialists, are taking care of them.
• 18:46
  It's so, so important.
• 18:48
  And, again, the healthcare system has had some barriers.
• 18:51
  It still has a lot of barriers for minority populations including,
• 18:55
  the patient's who are most affected with these condition.
• 18:57
  African Americans, Hispanics, minority populations from other parts of the world.
• 19:01
  that has made it very challenging, our trial record with some research, we think
• 19:04
  sickle cell is also, tricky to navigate.
• 19:07
  So, try to relay and establish the trust so that, you know, we can have, honest and
• 19:11
  helpful conversations is so, so important.
• 19:14
  And, I would say, trust your medical team.
• 19:16
  we're here to help in the best way we can talk to you,
• 19:19
  inform, arm you with knowledge.
• 19:21
  And then, talking about this new, gene therapy, gene
• 19:24
  editing, it's an exciting time.
• 19:26
  it gives me a lot of hope already.
• 19:28
  more tools that I can offer my patient's already.
• 19:31
  You some of our patient's are going through these treatments as
• 19:33
  we speak, which is very exciting.
• 19:35
  and before, we only had, the transfusions, hydroxyurea, and,
• 19:38
  that much more to offer, but again, patient's, families with knowledge
• 19:42
  to make decisions for themselves.
• 19:43
  that's the thing.
• 19:44
  but hopefully better days are coming for sickle cell.
• 19:47
  Amanda Wilde (Host): It's evolving.
• 19:49
  Well, Dr.
• 19:50
  Felipe Baltista, thank you so much for this conversation And for sharing
• 19:54
  your expertise and insights today into pediatric sickle cell disease.
• 19:59
  Felipe Bautista, MD: I appreciate the opportunity to talk about this
• 20:01
  disease and thank you very much.
• 20:03
  Amanda Wilde (Host): To find a physician, visit novant health.org.
• 20:07
  For more health and wellness information from our experts,
• 20:10
  visit healthy headlines.org.
• 20:12
  This is Meaningful Medicine, a Novant Health podcast.