Parents' Guide to Sickle Cell Diagnosis in Children

Deborah Howell (Host): You know, it can be challenging to hear your child has a medical condition that needs treating, and that's certainly the case with sickle cell disease. Our guest is Leigh Hunter, a Pediatric Hematology Nurse Practitioner at Miller Children's and Women's Hospital, Long Beach, and we'll be talking about pediatric diagnoses of sickle cell disease, understanding the condition, managing the symptoms, treatment options, and how to support a child's overall well-being with this condition. Welcome, Leigh.

Leigh Hunter, RN, MSN, CPNP: Thank you for having me.

Host: It is our pleasure and let's dive right in. Can you tell us what is sickle cell disease?

Leigh Hunter, RN, MSN, CPNP: Sure. Sickle cell disease is an inherited blood disorder. It affects more than 100,000 people in the United States and it's a genetic mutation that results in a distortion of the red blood cells in the body. So, they go from basically a round shape into the shape of a crescent moon, or what we would call a sickle, coming from the old farm instrument that was called a sickle.

Host: Sure. And what are some of the common symptoms parents should look for in children that may lead to sickle cell disease diagnosis?

Leigh Hunter, RN, MSN, CPNP: Sickle cell disease nowadays is picked up right away on newborn screening, and newborn screening is done in all 50 states of the United States. So, parents are alerted right away that their child has sickle cell disease.

Host: Well, that's certainly an improvement because the sooner you diagnose something, the sooner you can treat it. How does sickle cell disease impact a child's daily life?

Leigh Hunter, RN, MSN, CPNP: When we look at sickle cell, the problem with these misshapen cells is that they tend to become very rigid and sticky, and they can actually obstruct blood flow in the body. And depending on where that happens, it can cause any number of things from severe pain episodes to strokes. So, when you look at children who are having a lot of pain episodes, obviously they're going to be missing a lot of school, missing activities, missing time with their friends, so it has a very big impact on their life.

Host: I can imagine. What are some common misconceptions surrounding sickle cell disease and how can parents manage these misconceptions?

Leigh Hunter, RN, MSN, CPNP: I think one of the most common misconceptions is that the pain isn't real. And that's because we can't see it from the outside. So, if someone has a visible injury, a cut, or a broken bone, we can see that from the outside and it's easy for us to accept what they're telling us, oh, I'm having all this pain.

With sickle cell, we don't see anything on the outside. There's nothing objective that can tell you. Even vital signs don't tell you; blood counts don't tell you. The only thing you can rely on is what the patient themself is telling you. And we've had patients tell us that the pain feels like a broken bone or that it feels like there's ground up glass inside their body.

So, we understand that the pain is very severe, but again, people on the outside and it can even be family members sometimes don't acknowledge how much pain there is because they can't actually see it visibly. So, we just have to trust when the children are telling us I'm in you know, 10 out of 10 pain that they actually are in 10 out of 10 pain.

Host: Right. That must be incredibly frustrating all around. So, the good part is, we have some options. What are the treatment options for children with sickle cell disease that are specific to Miller Children's and Women's?

Leigh Hunter, RN, MSN, CPNP: There isn't any treatment option that is specific to our hospital. We use national guidelines for the treatment of sickle cell, which are really used internationally, I would say. So, there are medications that are started early in life. We start prophylactic antibiotics in infancy because sickle cell patients have a higher risk for serious bacterial infections than other people do. We start a medication called hydroxyurea which helps the body to make normal blood cells. We start that at about age nine months. We do routine screenings of blood work, as well as ultrasounds of blood vessels in the head to assess for stroke risk.

And all these things, like I said, are, pretty internationally utilized for all patients with sickle cell.

Host: Okay. Got it. Thanks for clarifying that. So, how can parents ensure their child with sickle cell disease receives appropriate medical care and support, especially during emergencies?

Leigh Hunter, RN, MSN, CPNP: The most important thing is for them to know their child's diagnosis. There are different types of sickle cell, so it's important for them to know which type of sickle cell their child has. And it's very important to have a list of medications with you at all times. So that anytime you present to an emergency room, you're able to say, my child has sickle cell disease, and my child is on these medications.

Host: How many types are there?

Leigh Hunter, RN, MSN, CPNP: There's four main types. There's hemoglobin SS, hemoglobin SC, hemoglobin beta plus thalassemia, and sickle cell beta zero thalassemia, but there are also a whole bunch of other variants. People can get a sickle cell trait from one parent and get a whole number of other different hemoglobin variants from their other parent, but the main four are the ones that we focus on because those are the ones that cause the most complications.

Host: Okay, got it. And what role does genetic counseling play in families with sickle cell disease, and how can it help parents make informed decisions about family planning?

Leigh Hunter, RN, MSN, CPNP: When the parents are tested, and usually through the newborn screening program, once they've identified the child, they will ask the parents to both be tested as well. And that way we know, let's say they're in hemoglobin SC, we know which parent is carrying the S and which parent is carrying the C.

Once we get the genetic makeup of the parents, then the genetic counselor is able to look at the risk with future children of what the odds are that they would have sickle cell or perhaps just carry the trait for it.

Host: Right, so they can make their informed decisions. Okay. Are there any advancements or promising research in the field of sickle cell disease that parents can be aware of?

Leigh Hunter, RN, MSN, CPNP: There's so many now. For a good, at least 20 years, we really only had one medication that we were using in sickle cell disease. A few years ago, we got a couple more, and again, these were, medications that could minimize some of the complications of sickle cell disease, but not to a great extent of really modifying the disease. And now we have these new gene therapies coming, which, really have potential, I think, to change the whole landscape of sickle cell disease. In terms of, really profound therapies in the past, the only thing we had was bone marrow transplant and only a certain number of patients would be a candidate for that.

And now with gene therapy it's going to open it up to a lot more people. And there's a lot of companies now that are getting in on it and doing their own research. So, as we go forward, I think that's going to be really the tipping point for us to really treat people in a way that's really going to change the course of their disease.

Host: And with the help of AI and, you know, the entire world working on the same thing, there's hope on the horizon, for sure.

Leigh Hunter, RN, MSN, CPNP: Definitely. Sickle cell was a very overlooked disease, for many, many, many, many years, um, being a disease that primarily affects people of color, it was sort of overlooked when people were doing research on curing chronic diseases. Now in the past few years, thank heavens that as we've become more aware of racial disparities in medicine, sickle cell has come to the forefront.

And again, that has initiated a lot of research and looking at new potential treatments and cures by a lot of different companies in different areas. And we're really happy about that.

Host: Oh, long overdue, but so welcome. So how does Miller Children's and Women's Hospital address the emotional and psychological aspects of caring for a child with sickle cell disease?

Leigh Hunter, RN, MSN, CPNP: Well, we're so fortunate here because we have a really robust social work and psychology department that work directly with our kids. So, we're able to provide counseling, we're able to provide neuropsychological testing. We have a great school reintegration program for kids who are missing a lot of school.

And both of these divisions are very good about keeping in touch with the schools, making sure that the schools understand any limitations that the children have and working with the schools to make sure that the children are given the best opportunities that they can.

Host: This has been fascinating. Is there anything you'd like to add to our conversation, Leigh?

Leigh Hunter, RN, MSN, CPNP: The only thing I would add is just that it's so helpful for people to be becoming more educated about this disease. Because it's been hidden for so long. And now that people are becoming more educated, it makes it so much easier for people to exist out in the world who have sickle cell disease and to not have their pain dismissed, you know, when they go to a doctor, or they go to an emergency room, or they go to school, or they go to work.

I mean, I have patients who have lost jobs because the boss said, sorry, you, you call out too often because you have pain. So I think that the more people become educated, the more that we can embrace these people with sickle cell disease in our communities and provide opportunities for them to work and go to school and be able to have time that they may have to miss because they're having pain or another complication and still be afforded that opportunity to return to exactly the same spot they were.

Host: Yeah. Amen. Beautifully put. Well, it's been really fascinating and interesting and, um, informative. Thank you so much for being with us today, Leigh. Where can consumers learn more about pediatric blood disorders and treatment options?

Leigh Hunter, RN, MSN, CPNP: Well, we have a website that I think you guys will be able to post, through Miller Children's Hospital. The CDC is also a great place. They have multiple pages on sickle cell. So I always, I tell my patients, if you're going to use Dr. Google, make sure that you're using websites that either, you know, end in G-O-V for government or E-D-U for education or it's a well-known facility like our hospital or one of the other big children's hospitals so that you're getting accurate information.

Host: Sure. And I have a website that we can also add to that. It is millerchildrens.org/specialties/JonathanJockChildren'sCancerInstitute. Thanks again, Leigh.

Leigh Hunter, RN, MSN, CPNP: Thank you so much.

Host: That's all for this time, for more info or to listen to a podcast of this show, please visit memorialcare.org. I'm Deborah Howell. Have yourself a terrific day.