Transcription:

Dr. Monica Hulbert: Hi, I'm Dr. Monica Hulbert, I'm the director of the Pediatric Sickle Cell Disease Program at Washington University and St. Louis Children's Hospital. And I'm a Mom Doc.

Melanie Cole: This is Mom Docs, the podcast from St. Louis Children's Hospital. And today we're talking about sickle cell disease. Dr. Hulbert, it's a pleasure to have you join us today. For the listeners, what is sickle cell disease? We've heard of sickle cell anemia. We've heard the word sickle cell before, but we really don't know what that is.

Dr. Monica Hulbert: Sure. Sickle cell disease is a blood disorder in which the red blood cells are the cells that carry oxygen around to our bodies, can develop an abnormal shape. The blood cells are supposed to be round and kind of like a donut and in people who have sickle cell disease, the blood cells can turn into a sickle or C-shape and those cells then can get clogged up inside of the blood vessels and block oxygen from reaching different parts of the body.

Host: Then what's the difference between sickle cell trait and sickle cell disease?

Dr. Monica Hulbert: That's a great question. People with sickle cell disease got two copies of the sickle cell trait, one from each parent. And this means that their body cannot make any normal hemoglobin, only sickle hemoglobin and hemoglobin is what is inside of the red blood cells. People who have sickle cell trait, have one copy of the sickle cell gene, but they also have a normal copy of that same gene for hemoglobin. And so their blood cells can stay pretty normal. so the difference between sickle cell trait and sickle cell disease is that people who have sickle cell trait usually don't have any symptoms or very rarely can have some symptoms. And people with sickle cell disease can have a pretty serious medical condition where they have anemia or low red blood cells. They can have very painful episodes when the blood flow gets blocked either to their bones or, to other parts of their body. And they can even have really serious complications like strokes and kidney failure.

Host: Thank you for that clarification, Dr. Hulbert. We've heard that this is very prevalent in the African-American population. Why is that?

Dr. Monica Hulbert: That's another great question. So, let me first state that while sickle cell disease is most common in African-Americans in North America, it can happen in any racial or ethnic group. Depending on what part of the country you live in, you may see a larger proportion of Latino patients that have sickle cell disease. And even people, who are white can have sickle cell disease as well. The reason why it's more common in certain groups than others is because having sickle cell trait or that one abnormal gene copy helps protect a person from dying of malaria. So in parts of the world, where malaria either used to be or still is very prevalent, you would be more likely to survive your childhood and go on to have more children, if you yourself had sickle cell trait. So that's what's called selection, in which, the having that trait makes you more likely to survive and reproduce. So since malaria is very prevalent in Africa and in South America and Central America and the Caribbean, and even in parts of Europe by the Mediterranean, that's why sickle cell disease is more common in those places.

Host: When do you know that someone carries the trait or actually has sickle cell disease? Is this something that is tested in utero or when the baby is born, do you already know if both parents carry the trait? How is this determined?

Dr. Monica Hulbert: So in the United States, currently every baby born in the US, has a test called newborn screening and the newborn screening test identifies people who have both sickle cell disease and sickle cell trait.
Now what happens with that test result depends on, you know, what the result is. So patients, or babies rather, who have sickle cell disease identified on their newborn screen are immediately flagged for follow-up. They get referred directly, you know, in many states, including Missouri, directly to a sickle cell center.
And then, the child will go on to have more testing to confirm the diagnosis and begin treatment. For, sickle cell trait, the follow-up is not quite as, standardized. And so, while that test result would be detected, it sometimes doesn't make it back to the family. But every family should know that their child has been screened for these traits at birth. And by tracking down a copy of their newborn screen or talking with their primary care doctor, they can learn their results that way. And of course, there are tests that can be done on older children to, determine whether they have sickle cell trait or not as well.

Host: So tell us what it's like for a child with sickle cell disease. What are the symptoms that they experience and what treatment options are available?

Dr. Monica Hulbert: So children with sickle cell disease, oftentimes starting from, you know, a few months of age, can have these episodes of really serious, really severe pain. a lot of times in very young children, it starts in their hands or feet where their hands or feet might swell up and just be intensely painful.
You know, the baby's crying inconsolably and you can't touch their hands or feet because that makes them cry. And, it's very, very uncomfortable and it's very hard for families, especially with little tiny babies because the babies can't tell the parents what's going on. So I think that that is very stressful for families to, you know, to experience that. As children get older, they may have pain in other locations and this pain can sometimes be so severe that the children have to be admitted to the hospital for IV pain medicines just to keep it under control while their body kind of, you know, resolves that painful episode. Other things that are really important symptoms, for families and doctors to look out for in young children, we worry a lot about their spleen. Their spleens can become enlarged and filled with blood and that can actually become life-threatening and may require a blood transfusion, sometimes even to take the spleen out. And also children with sickle cell disease are very high risk of certain bacterial infections that can cause sepsis and can be fatal. So all infants, with sickle cell disease are started on penicillin every single day until they're at least five years old to help prevent those infections. But anytime they have a fever, they have to come to the hospital and get evaluated and oftentimes admitted to the hospital as well. And then as people get older, there are other symptoms that are, complications that we're on the lookout for. People with sickle cell disease are at much higher risk of strokes than the average population. And we have some tests that can help figure out which kids are at the highest risk, so we can do some preventive treatment. And we monitor kidney function after, as, as they get. To be age 10 or so, they need to have their eyes examined every single year because they can develop some serious eye problems.
So, having like a real access to really comprehensive care, that's going to take into account all of these really critical features, both first screening and treatment is really important. In terms of treatment options, we have, several treatments that have been around for a long time. And then there are newer treatments that are just starting to become available that are pretty exciting, but we don't have a ton of information about them yet. So the existing treatments are a mainstay of treatment for the past decade or so has been, a medication called hydroxyurea. This is a daily oral medication that babies with sickle cell disease can start taking at age nine months. And it helps to keep that blood cell and the round shape like it's supposed to have and helps keep the blood cell from turning into that C or sickle shape that's going to get blocked up in the blood vessels. Our other main treatment that we've had around for a long time is, giving blood transfusions. And so sometimes we'll give a blood transfusion, just, you know, for a onetime because the patient is really anemic or has a very low blood count. And that can happen with any of the times that they're admitted to the hospital or so on.
But some children have enough symptoms and, that they really need to be on blood transfusions every single month to help prevent, further complications of their sickle cell disease. And so, deciding which of these treatments is right for a particular child, requires a lot of expertise and experience. And, we really, in a lot of conversation with the family about which treatment is right for them, and their child. And we really, strive to provide that individualized level of care, at Children's to where we can, you know, have really, identified the best treatment option for each patient.

Host: Well, as you've mentioned St. Louis Children's Hospital, tell us just a little bit more about the Sickle Cell Disease Program there and what support opportunities are available for patients and their families.

Dr. Monica Hulbert: Yeah. Thank you for asking about that. So, we are the, we have the largest sickle cell disease program in the region.
We take care of almost 400 children and young adults with sickle cell disease at our center. And, in terms of, what sort of treatment options we offer, as I mentioned, we are very, very proactive with early use of hydroxyurea in infants. And, you know, if a child isn't responding to that therapy, as well as we think that they should, we will not hesitate to talk about other treatment options like blood transfusions or other potential options as well. we are implementing some of the newer medicines, that have just recently been approved by the FDA for sickle cell disease. so we are starting to use those in our, in our patients as well and developing expertise with those. These are medicines that were just approved within the past six months, so they're very new to us. And then we also have a very, strong relationship with our bone marrow transplant team at St. Louis Children's Hospital. And, currently, bone marrow transplant is the only cure that's available for sickle cell disease. We, meet with the transplant team every month to, discuss patients who might. Be eligible for this treatment. And, you know, it's not something that we can offer to every patient immediately because it does have significant risks. And there are a lot of sort of factors that go into deciding who should be considered for a bone marrow transplant and who should not.
But one of our most important principles in our program is that every patient and every family deserves access to information about their treatment options. You know, even if the medical team thinks that a transplant is not right for a particular child at this particular time, we're still going to discuss that situation with the patient and their parents so that they, know that this is a treatment option.
You know, here's why we think this is, or isn't the best thing for you right now. And of course, you know, we're open, you know, we'll rediscuss it, as, you know, as either the child's situation changes or the transplant options change as well. So in terms of, support, I think one of the most important things that we do in the Sickle Cell Disease Program at St. Louis Children's Hospital is that we do spend a lot of time with families educating them. And discussing with them about their, you know, their child's condition, their treatment options and, making, collaborative decisions with the patients, and their family. In terms of other support that's available for our patients. So we have a full-time education liaison who works with our team. She is someone who has an extensive background in special education and, case management within school systems. And so she is able to help kids with sickle cell disease make sure that they are getting the most, appropriate, educational accommodations that they need to for their condition. we find that a lot of times, because children with sickle cell disease mostly look pretty normal, their educational needs may not be recognized by the school system. And so she is a really strong advocate for patients and families to help them get, the appropriate school accommodations that will benefit them the most. And we also have a social worker who is dedicated to our team as well. and in addition to providing kind of individual-level assistance, she also runs a support group once a month, for the caregivers and parents of children with sickle cell disease, just to help, help them, you know, kind of, get support from each other and, and figure out, you know, I guess learn from each other about how to navigate this complicated disease with their child. We do have also community links, with some outside organizations that have other support mechanisms available for patients and families too.

Host: So as we wrap up and what an interesting topic and really great information for parents to hear, speak a little bit about genetic counseling for couples with one child with the disease that may want to have another, and wrap it up with information about people with sickle cell disease and can they live a long and productive life.

Dr. Monica Hulbert: Yeah. So people with the sickle cell disease, you know, can do all of the things that we expect for children to do. They can go to school, they can graduate, they can get a job, they can go to college if they want, they can have a family if they want. it is, you know, it's a condition that does require every single day management. So, all of those achievements are doable with some extra help and support, you know, from the parents, from, you know, with the medical team, as a backup to what the parents are doing at home every single day. So another, another important thing to keep in mind is that the survival of people with sickle cell disease has improved over the past few decades and now there are many more treatments available up until about 15 years ago, there was one treatment available and now we have four or five that are approved by the FDA and newer treatments that are being investigated, you know, through clinical trials, to try to expand the benefits, of these treatments for people with sickle cell disease. So I expect that as we move forward, the children that we're seeing now are going to live very different lives than the children, you know, that we would have seen 20 years ago with sickle cell disease. And then, of course, the possibility of bone marrow transplant and other, other therapies that may be a cure in the future, you know, that are also being studied in clinical, clinical studies. In terms of genetic counseling. So, if two parents each have sickle cell trait, or one has sickle cell trait on the other one has another abnormal hemoglobin trait, then each pregnancy that they have would have a 25% chance of having sickle cell disease. So, and it's like, each pregnancy is like a coin flip. So, you know, it's random whether, you know, whether. each one would have the disease or not. And we do provide genetic counseling for all of the families that come into our clinic, with their children, newly diagnosed. And we also see a lot of, babies, or older children with sickle cell trait who are there for a onetime counseling visit. And genetic counseling is always a very important part of that conversation as well. And in fact, if the parents of a child with sickle cell disease or trait themselves do not know whether they have sickle cell disease or trait, we will either, you know, write a prescription for them to get, their own blood work tested, and if they don't have insurance, we have a mechanism to pay for that as well, because information is power. And the most important thing that we can do for families is give them good information so that they can make their own decisions about their future family.

Host: Absolutely. Great information. Thank you so much, Dr. Hulbert for coming on today and sharing your incredible expertise. For information on the sickle cell disease program at St. Louis Children's Hospital, please check out the disease page on the website at stlouischildrens.org. That concludes another episode of Mom Docs with St. Louis Children's Hospital. For more advice and articles, check out the Mom Docs website at childrensmd.org. Please remember to subscribe, rate, and review this podcast and all the other St. Louis Children's Mom Docs podcasts. I'm Melanie Cole.