Hemophilia & Baby Sleep – PediaCast 379
- Dr Amy Dunn and members of the Homecare Factor Team visit the PediaCast Studio to talk about hemophilia. We explore the cause, diagnosis and treatment of this bleeding disorder and highlight the challenges these families face. We also consider baby sleep and a new room-sharing study that may impact safe sleep guidelines. We hope you can join us!
- Safe Baby Sleep
- Are There Long-Term Consequences of Room-Sharing During Infancy?
- Mother-Infant Room-Sharing and Sleep Outcomes
- Safe Baby Sleep – AAP Policy Statement (October 2016)
- Hemophilia Helping Hand
- Hemostasis and Thrombosis Center at Nationwide Children’s
- Homecare Factor Team at Nationwide Children’s
- Homecare at Nationwide Children’s
- National Hemophilia Foundation
- Flying Horse Farms – Hemophilia Camp
- WFH Humanitarian Aid Video
- Treatment For All – WFH Humanitarian Aid Program
- World Federation of Hemophilia
- World Federation of Hemophilia USA
Announcer 1: This is PediaCast.
Announcer 2: Welcome to PediaCast, a pediatric podcast for parents. And now, direct from the campus of Nationwide Children's, here is your host, Dr. Mike.
Dr. Mike Patrick: Hello everyone, and welcome once again to PediaCast. It's a pediatric podcast for moms and dads. This is Dr. Mike, coming to you from the campus of Nationwide Children's Hospital. We're in Columbus, Ohio.
It's Episode 379 for June 21st, 2017. We're calling this one "Hemophilia and Baby Sleep". I want to welcome everyone to the program.
We have another big show for you this week on an important topic. It's a disease you've probably heard of. It's not crazy common in the United States, although it still affects thousands of families. And I say, you know, every week I say it's an important topic. That's because pretty much everything we cover is important to one family or another. I mean if your family is dealing with the particular disorder, it's important for you.
But I think that it's also important for all of us because there really is value in understanding the trials and challenges that other families face. Your challenge maybe a different disease, but I think there is some empathy that develops when we really hear about the things that affect others even when it's not in our own home. That's why every week is an important topic.
So hemophilia, it's not something that we've talked about before, I don't think, on PediaCast. Maybe a passing mention here and there. So, bottom line, we're long overdue in talking about this disease. It's a type of bleeding disorder. And we'll cover hemophilia in our usual amount of thoroughness.
In fact, we have a pediatric hematologist joining us today. That's a doctor who takes care of folks with blood disorders. Dr. Amy Dunn is from Nationwide Children's Hospital.
We also have a primary nurse with the hemophilia programs. She's taking care of kids with this bleeding disorder for many, many years and has great insight into the challenges that these families face, and also how treatment and outcomes have changed over the years. So, we'll talk about exactly what she has witnessed in terms of the evolution of a hemophilia treatment and how families get along.
We also have an infusion pharmacist joining us because kids and adults with hemophilia need factor replacement through an IV or other means of vascular access and sometimes they need it often. We'll explain why and what factor is and how it works. So, lots of questions to answer for you today.
Our fourth guest is our hospital's Factor Care Coordinator. There's a lot pieces parts in caring for kids with hemophilia. It can get confusing. And we don't want families to slip through the cracks or miss out on services that can keep their kids healthy and reduce stress and strain on the family. And there can be lots of stress associated with hemophilia, in terms of kids trying to live a normal life and dealing daily with the chronic illness.
How can we just help them be kids? That's a really important question for kids with chronic illness. Here you are dealing with something day in and day out. It's hard enough being a kid as it is without adding chronic illness on top of that. So, we'll talk about with all of these folks, what's it really like day to day having hemophilia and what can we do to make these kids lives a little bit better?
Then, there's also the financial concerns, factor cause money. So, how is it that families pays for this? And what kind of burden does that place on the home?
So, lots to think about which is why we have assembled our expert panel today. Before we get to them, I have a few comments for you regarding safe baby sleep. We've talked about this before especially the basics of safe baby sleep. The so-called ABCs, Alone, meaning no co-sleeping. You don't want to sleep with the baby in the same bed or the couch or a recliner. You always want to be awake when your babies asleep, in your presence and not in their own crib.
But Alone also means nothing in the crib with your baby. So, no pillows, blankets, pamper pads, stuffed animals, toys, nothing like that. Just alone, on their back, in a crib.
And we also mentioned that last October, the American Academy of Pediatrics revised their Safe Sleep Policy Statement which takes into account the latest research evidence and puts it into a practical language and guidelines for parents. So, in the revision, they advised babies to room-share, and not bed share but room-share, alone, on their back, in a crib. But in their parent's room, ideally for a year, but at least for six months.
And on the surface, this makes sense, if the baby is struggling or having a problem, parents are more likely to be aware and intervene in a timely manner if baby's in the room rather than across the hall or halfway down the stairs.
Now, when the AAP added this idea of room-sharing, there is some voice concern even among pediatricians that perhaps this would interfere with sleep among babies and parents who are sharing a room.
On the other hand, this was a hypothetical concern; there was any data to consider. Well, we do have data now. A new study published this month in the journal Pediatrics took a look at four-month-old and nine-month-old babies, ones who slept in a parent's room, and then compared those kids with a group of four-month-old and nine-month-olds who slept in their own room or their own space, so called solitary sleepers.
So, what did they find? Well, at four months of age, those who share the room with their parents, average about seven hours of sleep at the longer stretch. But those who are solitary sleepers, so in their own room or their own space, they average 44 minutes more sleep than their room-sharing counterparts. So, four months of age, babies who are room-sharing got about 44 minutes less sleep on average than those who were in their own room. And at nine months of age, most significant differences were noted.
So, here's an example of well-meaning evidence-based advice running into new data that might end up changing recommendations, although, we still have to look at the big picture. Does room-sharing really decrease the risk of infant death? If so, to what degree and for which populations and what affect does less sleep have for babies?
Less sleep certainly sounds better than dying in your sleep, but only if the increased risk of infant death is real and significant for babies who were sleeping in their own room.
Of course, then we have to consider what is a significantly elevated risk and what is the family's risk tolerance, and what population of folks are more at risk? So lots a little pieces parts to think about.
And we have even began to consider the effect of babies sleeping in the room on the parent's sleep and how that may or may not interfere with family dynamics and household health, as we know that a good night sleep is important for parents, too. In particular, how they function the next day.
So, lots to consider. And it really shows you the balancing act that guidelines must sometimes thread. We do our best to let you know best practices for keeping baby safe, but sometimes, it's a moving target. And at the end of the day, you're probably scratching your head and asking, "Well, okay, what's a parent to do with all these information?"
Well, Dr. Rachel Moon, she was the lead author of the October, 2016 AAP policy statement, the updated one, on safe baby sleep. The statement that recommended baby sleep in their parents' room. And she actually has some wise words on all of this in an article that she wrote for the journal Pediatrics in the same edition with the new research. And her article is called Are There Long-term Consequences of Room-Sharing During Infancy?
And I'll put a link to her article. It's a very thoughtful, well-written piece. And I'll put a link in the Show Notes for this Episode 379 over at PediaCast.org. I also put links to the October 2016 Safe Sleep Policy from the American Academy of Pediatrics and also the new sleep study we've been talking about so you can see all those things for yourself, again, in the Show Notes for this episode, 379, over at PediaCast.org.
One important point remains, none of these impacts the ABCs of safe sleep, which state that babies ought to be alone. So alone means no co-sleeping, not on couches, recliners. Babies need to be alone, no pillows, no blankets, no bumper pads, no stuff animals, toys, nothing except baby dress and clothes. A sheet on the bed is fine as long as it's a fitted sheet and they're dressed in something appropriate for sleeping, on their back and in a crib.
All right, let's move on. Don't forget that PediaCast is your show. If there's a topic that you would like us to talk about, if you have a question for me or you want to point me in the direction of a news article that you've seen or a journal article, it's easy to get in touch. Just head over to PediaCast.org and click on the Contact link.
Also, I want to remind you the information presented in every episode of our program is for general educational purposes only. We do not diagnose medical conditions or formulate treatment plans for specific individuals. So if you have a concern about your child's health, be sure to call your doctor and arrange a face-to-face interview and hands-on physical examination.
Let's take a quick break. We'll get our panel assembled and I will be back to talk about hemophilia, it's coming up right after this.
Dr. Mike Patrick: Four members of the Hemophilia Factor Team at Nationwide Children's Hospital join me in the studio today. Dr. Amy Dunn is director of Pediatric Hematology and an associate professor of Pediatrics at the Ohio State University College of Medicine. We also have Charmaine Biega who is a primary nurse with the Factor Team, which by the way is a service of Nationwide Children's Homecare. And we'll explain what all these terms mean as we move along.
Terry Laurila is also here today. He's a pharmacist and manager of Factor Programs Transfusion Services and Debra Humbert who serves as Factor Team coordinator.
Thanks to all of you for stopping by today. Dr. Dunn, I want to start with you, first, let me say welcome to the program.
Dr. Amy Dunn: Thank you.
Dr. Mike Patrick: I really appreciate you taking time out of your busy schedule to share your expertise with us today. Let's start with just a definition, what is hemophilia?
Dr. Amy Dunn: Well, there really two major forms of hemophilia. Hemophilia A is factor VIII deficiency and hemophilia B is factor IX deficiency. And combined, they are some of the most severe bleeding disorders that we see.
Dr. Mike Patrick: So in terms of how many kids this affects, it's not crazy common, right? But the kids who are affected are, I mean, it really is a big impact on their lives.
Dr. Amy Dunn: Yeah. The hemophilias are relatively rare conditions. There's about 20,000 patients with hemophilia in the US, but they do take a lot of time and resources to make sure that we can keep them healthy and well.
Dr. Mike Patrick: Yeah. So, what exactly is happening under the hood, in terms of the bleeding disorder with hemophilia? What's going on?
Dr. Amy Dunn: Essentially, these children are missing a particular clotting protein in their blood. And without that really important protein, their blood doesn't clot effectively. So, they can have really significant bleeding and they can have bleeding in unusual occasions.
Dr. Mike Patrick: And depending on which of those factors in that, because there's really a big cascade, the coagulation cascade as I learned in medical school is very complicated. And so, these pathways, each step is important and if you're missing a step in the pathway, then that can really cause there to be a problem with the clotting process.
But we also know it's not a simple matter of whether the factor is present or not present because there are degrees of severity with hemophilia. How does that happen?
Dr. Amy Dunn: Exactly. Some boys produce no factor at all. And so those are the boys with the most severe bleeding disorders, most severe types of hemophilia. Some boys have a moderate deficiency in their clotting proteins. So, they will have between 1% and 5% levels in their blood. And our boys with milder deficiencies have between 6% and 40%.
And I say boys usually because most of the time, boys are affected by hemophilia. On rare instances, there are girls and women who are affected. They tend to be carriers of hemophilia but some can be affected.
Dr. Mike Patrick: And why is it the boys are most affected?
Dr. Amy Dunn: The hemophilia, both hemophilia A and B are X-linked conditions which mean they're carried out on X chromosome. And so, women have two X chromosomes, so they essentially have two chances to get this gene correct where is men only have one. So, if the gene is incorrect, then they just will be affected by the disease.
Dr. Mike Patrick: And isn't it that, this is just my own curiosity and I know that we do have a lot of pediatric providers in the audience as well. The kids who don't make as much factor, is it a matter of volume a factor? Or is the factor that they make, the protein itself change in such a way that it doesn't work as well as a normal factor? Or some combinations of those things.
Dr. Amy Dunn: Most of the time, it's an actual deficiency in the amount of protein. There are rare occasions where the protein is dysfunctional. Almost always, it's a deficiency in the total amount.
Dr. Mike Patrick: And is that because some cells are making it and other's aren't? Or, I'm just thinking in terms of the process of making a protein by a cell. You think, you know either you're making it or you're not making it but there must be something else involved.
Dr. Amy Dunn: Right. That's a great question and in some cases we don't know. In some of those cases where you make some, it's that there's a processing defect within the cell that prevents some of that protein from getting out.
Dr. Mike Patrick: Very interesting. Now, you mentioned hemophilia A and factor VIII is the one that's involved there. Hemophilia B is factor IX. I want to mention hemophilia C because I know that we do have a large number of listeners in Israel who listen. And it's actually much more common there, is that right?
Dr. Amy Dunn: Yes. Hemophilia C is factor XI deficiency and that's slightly different in that it's not an X-linked condition. And so, men and women are equally affected in that condition. And it's a bleeding disorder that is less tied to the factor level in the blood stream than hemophilia A and B.
Dr. Mike Patrick: And though, it's not as common as in the United States?
Dr. Amy Dunn: Correct.
Dr. Mike Patrick: So how is hemophilia diagnosed?
Dr. Amy Dunn: We typically either diagnose patients because there's a family history and we know to test for it when the children are born. Or, they have bleeding symptoms early in childhood that lead to the diagnosis.
Dr. Mike Patrick: And what kind of symptoms would a parent and the provider be on the lookout for and would make you think about hemophilia?
Dr. Amy Dunn: Bleeding with circumcision is one of the big ways that these children present. Also, bleeding into the joint or muscles or intracranial hemorrhage.
Dr. Mike Patrick: Yeah, that sounds scary.
Dr. Amy Dunn: It is.
Dr. Mike Patrick: Is that something that happens very often or is it a rare complication of hemophilia?
Dr. Amy Dunn: It tends to happen in families where there's no known family history. If we know there's a family history of hemophilia, we can do things, obviously, like not circumcise until we know for sure. But it is an uncommon complication but certainly a varied dramatic way to present.
Dr. Mike Patrick: Yeah. So, if you have someone who does present with easy bleeding, what kind of work up — and again, this is not one of our CME episode, but we do have lot of providers who listen — and so, if there was a concern for hemophilia, what kind of laboratory testing would you do? Would you start with a genetic test or there's some other things you'd do first?
Dr. Amy Dunn: Also a great question. So, the first test I would recommend for any child who have bleeding symptoms is a simple CBC. You want to make sure that they have the right number of platelets, first and foremost, because platelet number problems are much more common than hemophilias. And then with hemophilia, particularly, if there's a family history, you'd want actually do a factor VIII and factor IX levels.
Dr. Mike Patrick: And that is the test that you order for those things specifically. Is PT, PTT, bleeding times, does that come into play at all or you just go straight to the other things?
Dr. Amy Dunn: PTT is typically prolonged in patient with hemophilia but you can miss patients with mild hemophilia, if you'll just rely on the PTT. The PT will be normal in all forms of hemophilia.
Dr. Mike Patrick: Okay. So, that something important to remember, just because it's normal does not mean that hemophilia absolutely is not there.
Dr. Amy Dunn: Correct. And every labs, PTT sensitivity to factor VIII and factor IX is different. So, it's important to know where you practice what factor levels will prolong your PTT.
Dr. Mike Patrick: And bottomline, get a hematologist involved. Try to talk to him on the phone and get the right stuff ordered. What about a prenatal testing, can families have that done, too, especially if there's a family history and there's a particular concern?
Dr. Amy Dunn: Yes. So prenatal genetic testing is available. It's not available widely but certainly the more sophisticated centers can offer that for families. It's easiest if you know the genetic mutation within that family.
Dr. Mike Patrick: And since women have two copies of the X chromosomes, so they may have one that's abnormal and be a carrier and don't have any symptoms. Is there any way for moms to find out if they are a carrier before they have a baby?
Dr. Amy Dunn: Genetic testing is the best way to know because factor levels, particular during pregnancy, can be misleading. And so, we do now have very effective genetic testing for both hemophilia A and B, so that what I would recommend.
Dr. Mike Patrick: Very interesting. So, how is hemophilia treated?
Dr. Amy Dunn: The main stay of treatment for hemophilia is to really try to prevent bleeding as much as possible. And that's everything from counseling these patients and families to really make good life choices about the activity that they participate in. Things like avoiding contact sports to giving prophylactic factor replacements. So, whatever protein is missing, we give that back to the children on a regular basis.
Dr. Mike Patrick: And we'll talk a little bit more about exactly how we get factor and how it's given and all those sort of things. And then, of course, there are things that can make kids more at risk for bleeding. I would imagine you'd want to avoid those things.
Dr. Amy Dunn: Correct. We want to avoid certain activities — high-risk activities, high-impact activities — particularly where you injure the head, the neck, or the large joints in the bodies, the knees, the ankles, the elbows. Then, we also want to avoid certain medications that increase bleeding risks. Those are things like ibuprofen, aspirin, Naprosyn.
Dr. Mike Patrick: So, really these kids and families have a list of things, medicine that they shouldn't have and maybe wear a medical bracelet that let folks know they have hemophilia and you should not get X, Y or Z.
Dr. Amy Dunn: Correct. And they absolutely should be taken care of by hemophilia treatment center.
Dr. Mike Patrick: So your factor is going to be important to keep the levels up and to prevent bleeding. If you are bleeding, what should families do quickly to stop the bleeding?
Dr. Amy Dunn: The first thing they need to know is they need to recognize a bleed early. What are those signs and symptoms of bleeding? And then, they have to be prepared to treat those bleeds as soon as possible so you can limit any long-term damage.
Dr. Mike Patrick: In terms of specific things that you do to stop bleeding, do you have any tricks up your sleeve other than kind of get factor in?
Dr. Amy Dunn: Right. Factor is the big thing, but then we also recommend rest, ice, compression, elevation.
Dr. Mike Patrick: All important things to stop bleeding. The pressure's really important. You going to keep it there for longer than you think you need to, right?
Dr. Amy Dunn: Yes, yup.
Dr. Mike Patrick: And what about long-term outlook for kids with hemophilia? Is there any cure on the horizon like through gene therapy to help them start making their own factor again? And do you think that kids who have it now will ever see that sort of thing? And if not, what is their life like as adults?
Dr. Amy Dunn: Well, the current expected life span of someone with severe hemophilia or with hemophilia in the developed world, where they have access to get treatment is nearly normal. But that treatment is quite burdensome right now with routine factor replacement. So, gene therapy is something that we all in the hematology community are very interested in. And finally, over the last few years, we've had the first really promising results with gene therapy both hemophilia A and hemophilia B. So I do think hemophilia care is going to change dramatically over the next decade.
Dr. Mike Patrick: Yeah, very interesting. Now, how has that long-term outlook changed? You mentioned that today and in the developed world, folks with severe hemophilia can still with proper care and the care of hemophilia center, it's almost normal prognosis or normal life expectancy. How has that changed?
Dr. Amy Dunn: It has changed quite a bit. We went from having no effective treatment from hemophilia in the 1950s to now really incredibly effective treatments. But hemophilia is really a disease of the haves and have-nots. If you have access to the right treatment, you can do very, very well. But unfortunately, three quarters of the world does not have access to the right testing or treatment. And so, the outcomes in those areas of the world are very, very different.
Dr. Mike Patrick: And so, life expectancy there, kids may not even make it to their teenage years.
Dr. Amy Dunn: Correct. The average life expectancy of someone with severe hemophilia without access to care is around 10 to 11 years.
Dr. Mike Patrick: Is there anything that folks as they're hearing this can do to help kids in countries where they may not be the level of care that we have here?
Dr. Amy Dunn: Yeah, absolutely. The World Federation of Hemophilias are worldwide organization for advocacy. In our region, the World Hemophilia of USA board is really tasked with trying to get access to care for people who don't have it. So, that would be the organization that I would reach out to.
Dr. Mike Patrick: Great, great, great information. I want to transition over to Charmaine Biega. She is a primary nurse with the Hemophilia Center here at Nationwide Children's Hospital. So, Charmaine first, welcome to PediaCast.
Charmaine Biega: Thank you.
Dr. Mike Patrick: Yeah. Appreciate you stopping by. Tell us about what daily life is like for kids and families with hemophilia? What was it look like to have this disease?
Charmaine Biega: They have a normal activity level. They participate in school, they participate in sports. Initially, their diagnosis, it's very overwhelming because of the limitations that they have with hemophilia, but pretty much they participate in anything that any other child participates in.
Dr. Mike Patrick: Yeah. To some degree, I mean, probably football is maybe not the best choice. But, folks have different tolerance levels and there's different severities of the disease too that you'd have to consider. So, they still can have a normal life. But there's a lot of pieces parts that have to go into having a normal life, right?
Charmaine Biega: Right. So, with all the patients, they have to learn to do infusions. We teach most of our patients, in order to prevent them from having to come to the emergency room or the clinic, how to do infusion, which would involve either peripheral infusion or accessing a port, so that they can limit time in the hospital.
Dr. Mike Patrick: How often do these kids need to get factor? And I'll bring Dr. Dunn back in here. Is there something, is it really variable depending on severity of disease? Is it weekly, monthly?
Dr. Amy Dunn: Yeah. It's really variable. So our patients with the mildest versions of hemophilia may go an entire year without needing factor, whereas our boys with severe hemophilia are often infusing every other day or at least several times a week.
Dr. Mike Patrick: Yeah. And then, they would have to learn, if they don't have a port and I would imagine that the ones who need it more often are more likely to get a port. What is a port, Charmaine?
Charmaine Biega: A port is a central line. So it's basically like a little button in their chest. It can be other places too but where they have to access that with a needle, so it has to be sterile as possible. So then, they access the port with a needle.
We use numbing cream, things like that. So you decrease the amount of pain. There's not a lot of pain associated with it, but as kids, they get… Prevents a little bit of anxiety.
So, they're accessing that and they have to prevent infection, be alert for fevers, that they need to call in because they would need to come to the emergency room.
Dr. Mike Patrick: I think a lot of folks in the audience had probably heard of this sort of thing before because it's people who are getting chemotherapy may have a port that's there, that can be accessed. But some of these kids have to do a peripheral IV, and so they learn, I would imagine, would they have to go a medical care facility to do that or they learn to start an IV on their own?
Charmaine Biega: No. Pam and I actually teach them how to do it. We have an Infusion Weekend ever year that's usually held at Deer Creek State Park, where we invite probably around 14 to 20 families to come. And we actually teach them how to do peripheral infusions.
Dr. Mike Patrick: It must be pretty scary to them at first, but unless they have a medical background.
Charmaine Biega: Right. Yeah, I would say it's probably either one parent or the other, not always typically both parents. But sometimes it is, but they learn how to do it.
Dr. Mike Patrick: What sort of programs and support systems are in place to help these kids. Because I would imagine, in addition to the medical component of this, there's also a really a mental health component as well. I mean, you're dealing with the chronic disease and you're different than other kids, what sort of things are there to help them?
Charmaine Biega: Well, Central Ohio, we have a Chapter of the National Hemophilia Foundation. It's for Central Ohio, eight chapters in the whole entire state, eight treatments centers. So, each treatment has chapter or joint chapter. So, it provides education for families. It provides support network. So, they can interact and learn from each other.
There's the National Hemophilia Foundation that we can invite people to go which is the national organization.
Dr. Mike Patrick: Yeah, rather than just the local chapter.
Charmaine Biega: Right. Just the local chapter.
Dr. Mike Patrick: I went to their website as I was researching the show, and they're quite the organization, in terms of having it together. Tons of educational resources, so folks even if you don't have hemophilia in your family and just more interested in learning about this disease and helping kids who do have it, there's great educational resources that has the list of all the local chapters, clinical trials that are going on to explain the science and what's happening. Even scholarships that folks can apply for.
And then, they also run some camps. Tell us about hemophilia camp?
Charmaine Biega: So, Flying Horse Farms is our camp for the state which started probably four or five years ago. So, we dedicate a weekend or the week to teach kids how to infuse at camp and participate in the other activities they participate in, the archery and swimming.
And then, in Michigan, there's a hemophilia camp that's just dedicated to hemophilia, Camp Bold Eagle. And then, they different outreach clinics, too, that's based on age groups. And that's strictly patients with hemophilia and they teach infusions, too.
Dr. Mike Patrick: Yeah. And they have fun.
Charmaine Biega: Right. And they have fun, right.
Dr. Mike Patrick: What kinds of activities occur at hemophilia camp?
Charmaine Biega: Usually like archery, swimming. There's some canoeing, fishing.
Dr. Mike Patrick: So all the things that kids do in a normal camp because we encourage these kids to live a normal life. But there's the folks that would help them if there was a problem there on site but still try not to get in the way of them being kids.
Charmaine Biega: And what we try to do as a treatment team is we try to teach the families and the kids if they take control of their hemophilia, then hemophilia can't control them.
Dr. Mike Patrick: Yeah. And then, we talk about there's some activities that kids should avoid, but in terms of just normal activities, are there precautions, extra precautions? I guess they're things that all parents should be doing anyway with their kids, but in terms of bike riding and skateboarding and…
Charmaine Biega: Yeah, the National Hemophilia Foundation has a sport handbook that we pass out to our families. And they have different ratings for each of the sporting activities. It ranges from anywhere from one to four. Four being high risk like football, lacrosse, boxing, wrestling. But they're kind of labeled so that the families can kind of judge about what activities they can participate in and how high risk they are.
Dr. Mike Patrick: And it's important for all kids, but especially for these kids you want to make sure, they're wearing a helmet when they're riding a bike or skateboarding and then think about elbow pads and knee pads. And you can't wrap them in bubble wrap but you almost want to, right?
Dr. Amy Dunn: That's a really good point. What I always found is that being active really helps my kids. The stronger they are, the more coordinated they are, the less likely they are to bleed. So, there's fine line between activities and the right activities and how healthy they are.
Dr. Mike Patrick: Yeah, so again, you don't want to put them in a bubble, right?
Dr. Amy Dunn: Right. You don't want them to be a couch potato and be overweight and not participating. So, it's really helping… Each child and family is slightly different, so we try to meet their needs and guide them in the right direction so that they can be the healthiest that they can be.
Dr. Mike Patrick: Right. Let's move on to Terry Laurila. He is our infusion pharmacist that joins us today. Thank you so much for stopping by. Really appreciate it.
Terry Laurila: Thank you.
Dr. Mike Patrick: So, tell us more about factor. So, we mentioned that it's a part of a cascade. It's a protein, it's a step in clotting, where does it come from?
Terry Laurila: Both factor VIII and factor IX are proteins that are made in the body. They're made in the liver sinusoidal cells as well as in endothelial cells. And it binds to like the von Willebrand factor and it floats around the body until it's time for it to be needed. Then once there is a bleed, then those chemicals come out that say, "Let's activate this because we need to form a clot," which means form fibrin. And then, the clot will be formed and the bleed will stop.
Dr. Mike Patrick: Yeah. And as any medical student will tell us, "This is a complicated system." It really takes some learning.
Dr. Amy Dunn: Yeah. It's typically people's least favorite part of medical school.
Dr. Mike Patrick: Yes.
Dr. Amy Dunn: Except mine.
Dr. Mike Patrick: Now, what about factor that these kids then are getting? So, where does that factor come from?
Terry Laurila: That's a very good question. Originally, factor was found to be floating around in the body so that we could actually like go ahead and draw blood out of people's bodies and refine that and then pool it together, so that there was enough. And so, actually, we first started to treat people with hemophilia with actual human factor that was pooled.
Then, with the development of recombinant DNA technology, we can actually then have mammalian cells that you cut a piece of the human genome out and put into it, so that it actually will now make the factor, and it makes it very very well. It's almost like this little factory that it will make more than what other cells would make. So that then you could harvest all of these extra factor and then purify it. And what happens is once it's purified then it's washed and put in vials and it's freeze dry so that it is very stable.
And not only is it's stable that way, we also like to keep it refrigerated, so that it won't degrade. Because when you look at factor, it is a protein, so when you think of egg whites. If it's something that will turn an egg white white, then it's going to be hurting it. So, temperature and time, both of those things would turn egg whites white. So, avoid those.
Dr. Mike Patrick: Yeah. Now, as you're talking about how a factor is made, I get this vision in my mind of the Jurassic Park video, you can see dino DNA. But it is sort of that process, right? I mean in terms of using cells to manufacture a protein.
Dr. Amy Dunn: Yeah. It really is it. It was one of the real successes of recombinant technology to make these products. And they're still not incredibly easy to make and there are very few companies that can make them. So, you have an entire factory dedicated to making only factor VIII or factor IX, for example.
Dr. Mike Patrick: Yeah. And then when folks go to give plasma is, what are we getting there? I think a lot of people in the audience would be wondering, do you get factor from plasma? Or there's something else?
Dr. Amy Dunn: Yeah. The different clotting factors of proteins do live in the liquid part of the blood or the plasma. So, we would always encourage everyone to donate blood because there is lots of different people who need different components of blood for lots of reasons. We don't routinely use a lot of plasma in and of itself for patients with hemophilia anymore because there's just not enough either factor VIII or factor IX in a single unit of plasma to be effective.
Dr. Mike Patrick: Yeah. But it's still important for folks to give plasma because there are patients who need it for other reasons.
Dr. Amy Dunn: Absolutely.
Dr. Mike Patrick: And tell us, while we have you here, a little bit about the safety of blood products today. What are we doing now to make the blood products more safe? I'm sorry, I didn't warn you that I was going to ask that question.
Dr. Amy Dunn: No, that's okay. It's a great question. So, hemophilia patients, historically, did get expose to a lot of blood-related proteins. And so, in the 80s, when it became apparent that there was contamination of the blood supply with a number of different viruses — in particular hepatitis C and HIV — the hemophilia community really was devastated by those infections. Because the older a plasma concentrates, to get one dose of factor for patient with hemophilia, you're essentially being exposed to about 5,000 blood donors.
So, in addition to concentrating the factor, we were concentrating a lot of viruses along the way, unknowingly, of course. And so, now hemophilia products are some of the most heavily regulated and tested and the safest products even if they are plasma-based products in the world. And so, it's something that though every time we hear of a new virus or prion or bacteria that's in the community, whether it's Zika or Chikungunya, the hemophilia community always goes, "Are our products safe from that new infectious agent?"
Dr. Mike Patrick: In terms of side effects, we talked about if it's a blood product, it's safer than it has been but that you certainly want to have hepatitis B immunization. What about the developments of factor inhibitors as a consequences of getting factor? Tell what that is and what families need to know about it.
Dr. Amy Dunn: Inhibitors are antibodies to factor VIII or factor IX. And essentially, those antibodies will destroy any factor that the body produces or any factor that we try to give that patient. They are relatively common unfortunately in hemophilia A.
So about 30% of children with severe hemophilia A will develop these antibodies. And only about 1 to 3% of our patients with hemophilia B will. But these are really devastating complications potentially of hemophilia treatment. And so, that adds another layer of complexity to the care of those kids.
Dr. Mike Patrick: So, the factor that these kids are getting the body's immune system is saying, "Hey, this didn't come from us. And so, we're going to fight it because it's a foreign substance." Do we think that, you may have no idea because it is not researched yet, but if we do use gene therapy to get the body's own cells to make factor, what would expect there to then be inhibitors made against factor we make ourselves?
Dr. Amy Dunn: We have certainly seen that in animal model, so it's definitely a concern. And it's an area of ongoing research.
Dr. Mike Patrick: As I think about factor being made by recombinant DNA technology, that sounds expensive. What is the cost like for families who have to have factor on hand all the time?
Terry Laurila: Yes. That has changed over time as well, because originally, when we had just the recombinant factor, that would be given like every other day or even like three times a week. So, that would be about a dollar a unit and that the amount that a patient would usually get would be a thousand units. And so, that thousand units would be a thousand dollars per dose.
But over time, they've actually added on extra molecules to a factor, so that we have a longer-acting factors now, too. Now, when you look at the cost of those, that cost is going up as well.
Dr. Mike Patrick: Yeah. Is there help that families can get to pay? Does the insurance usually cover it? Are there grant systems out there to help families? How does the typical family deal with the financial burden of this?
Terry Laurila: Well, actually, you know, it's like it's great to be part of the hemophilia treatment center because they really drive a lot of it whether a patient can actually have a choice to be put on a study protocol. And so, the drug would be paid for that way.
The patient also has choice to select which factor product to use. And each one of those factor products, the manufacturers will have different programs available. So that once, they're on these programs, they will make sure that the factor's available even if they were to lose the insurance. And we try to make sure that every factor dose that we send out is prior authorized and paid for.
Dr. Mike Patrick: Yeah. And I want to bring in Debra Humbert, who's a factor care coordinator. Debra, thank you as well. I really do appreciate you stopping by.
This is so such a complicated set of circumstances that families have to deal with. I mean, in terms of making sure that they have factor that is available to them, that there is a system in place to cover it if they're having a problem. So, tell us a little bit about your work and why it's so important that families really be part of a center like we have here at Nationwide Children's.
Debra Humbert: I'm definitely part of their families. And I'm the coordinator from… The nurses would call me and let me know a patient needs factor. Therefore, I go for the insurance piece of it. I also follow the families monthly to make sure they have a proper amount of factor in the home. And if they need any extra supplies or anything, homecare can offer those as well.
Dr. Mike Patrick: I would imagine that there is a lot of anxiety in these families in terms of, "I want to make sure that I have factor available, that I have the proper education to give it, that I know when there's an emergency, when do I need to call someone and not call someone." So, I can imagine that the service that your team offers is just so comforting to them.
Debra Humbert: Yeah. I try to educate them to not use the last dose of factor.
Dr. Mike Patrick: To give you a little bit of heads up.
Debra Humbert: Give me a little bit of heads up. But we can get the factor out same day service as well. But we do like to have a couple of day notice if possible.
Dr. Mike Patrick: And you really do work with each family individually because it can get pretty complicated to figure out who's paying what and what the best way to go, which factor product to get, where to get it, or the programs to use. I mean, each family's sort of unique in terms of how you can help them.
Debra Humbert: Right, exactly. It just depends on your factor — the pharmacist. We'll fill the prescription and then, I do the coordination of delivery. We have a courier service that we can do same day courier delivery or we do FedEx overnight kind of things.
But it just depends on what, how the family needs it. If they need it right away, sure, we'll get it out to them right away, within a few hours if possible. And if they're okay with two or three days, we can FedEx it and get it whenever they need it.
Dr. Amy Dunn: Factor because it's a rare medication and because of the expense, it's not the type of product that's carried by your regular pharmacy. You cannot go to the pharmacy on a corner and pick up a dose of factor, ever. There are only special pharmacies that can handle the complexity of this medications. So, and because hemophilia care is so expensive, we really try to take that into account with each and every patient. We want to make sure they have the absolute best care but also be very economically minded.
Dr. Mike Patrick: Yeah. And these families really, it must become like family. Just in terms of the degree of interaction that you have with them and helping them out to live as normal life as possible.
Dr. Amy Dunn: I think that's one of the things that draws all of us to hemophilia, is that we get to be part of the family and we meet these children often when they're infants. And we take care of them for the next 20 years or so until they transition to adult care. So we really do get to know them.
And I always tell all of our trainees that when you meet one patient with hemophilia, you've met one patient of hemophilia. They're all unique, they all need to be treated as unique. And we learn what they need over time. And so, we tailor our treatment to what they need.
Dr. Mike Patrick: I would imagine that there also is some stress that comes with moving. So, if a family has a kid with hemophilia, they want to make sure that there is a hemophilia center that is close enough that they can have regular appointments. Speak to that, that stress that can provide for some folks.
Dr. Amy Dunn: Yeah. The hemophilia treatments centers network across the US and Canada is a really strong network. There is about a 150 treatment centers in the US. And so, we can easily tell families or guide families if they are looking to move to other places, what's the next closest hemophilia center to them. But that, being close to a treatment center really is important.
Dr. Mike Patrick: I mentioned early on in the program that the Factor Care Team is part of Homecare Services at Nationwide Children's. Debra, tell us what are some of the other things that Homecare, what are the services do they provide to the families of Central Ohio?
Debra Humbert: We have a private duty nursing. That's the nurses that go out to the home to help the families that work. So, they'll spend like eight hours or whatever the family needs. So, the family, the father and mother can go out and provide for the patient.
We also have intermittent nursing. And that's just for someone who needs to go out and do the antibiotics or what-not, whatever they need, TPN, whatever.
Then, we also have an Asthma Program. There's just so many programs that we have to offer. And we do have a website for everything as well.
Dr. Mike Patrick: Yeah, absolutely. Physical therapy, occupational therapy, speech therapy, things that can be done in the home. All great services and we will put a link in the Show Notes for this episode, 379, over at PediaCast.org, so folks can learn more about Homecare at Nationwide Children's and also the Homecare Factor Team here.
We'll also have a link to the National Hemophilia Foundation. We have some other educational materials from here at Nationwide Children's. We'll put those in the Show Notes as well. So, if you're interested in learning more about all of these with hemophilia, just head over to PediaCast.org again. Again, Show Notes for this episode, 379, and you'll find everything there.
I want to thank Dr. Amy Dunn, Charmaine Biega, Terry Laurila and Debra Humber. Thanks to all of you so much for taking time and telling us all about hemophilia.
Dr. Amy Dunn: Thanks, Mike
Charmaine Biega/Terry Laurila/Debra Humbert: Thank you.
Dr. Mike Patrick: All right, and we are back and before I get to the usual goodbyes and thank yous and reminders and all that sort of thing, one more link that's going to be in the Show Notes this week. As we were going into the break, I mentioned that there were going to be a lot of helpful links regarding hemophilia and we do have those so be sure to check them out at PediaCast.org in the Show Notes for 379.
But one I didn't mention and I think it's really important — and in fact, sort of offline as the folks were leaving the studio, Dr. Dunn reminded me about it — and that is again this whole notion that there's a lot of kids around the world who have hemophilia and do not have access to factor. And they die young without the factor, especially if they have severe disease.
And so, that's very troubling to me. And hopefully, it's troubling to you as well. It turns out that even though hemophilia is not crazy common here in the United States of America, it turns out, if you look internationally, it ends up being about 1 in 1,000 people who suffer from a bleeding disorder. And there are a lot of kids who die from bleeding disorders like hemophilia because they do not have access to the treatment that they need.
So, the question becomes, how can we help? And the World Federation of Hemophilia does have a humanitarian aid program to try to get factor into the kids who need it internationally, who otherwise would die without the factor from this program.
And so, I am going to put a link in Show Notes for the World Federation of Hemophilia. They do have a USA chapter. So I'll include a link to that as well and then a site called Treatment For All which is the World Federation of Hemophilia humanitarian aid program to try to get factor into the hands of families whose children would die without it.
And then they do have a video as well, the World Federation of Hemophilia humanitarian aid video and I'll put a link to that.
Really just gives you some of the stats. And you can meet some of the families who are affected. So, definitely if you are looking for some place to donate money, this week as we're thinking about hemophilia, please consider that. And again, links in the Show Notes for you because these kids really do need our help.
Also, it's been a while since we talked about it. At the beginning of the program, we talked about safe baby sleep. We'll have links in the Show Notes for you to the AAP policy statement from October of last year on safe baby sleep. The new research is out on mother-infant room-sharing and the sleep outcomes. And then, commentary are the long-term consequences of room-sharing during infancy, all those links in the Show Notes.
All right, I do want to thank all of you for taking time out of your day and making PediaCast a part of it. Always do appreciate that. And of course, again thanks to our guests, Dr. Amy Dunn, Charmaine Biega, Terry Laurila and Debra Humbert for their expertise.
And also, just thanks for their work. I mean, it takes a lot of effort and a lot of physical effort and emotional effort helping families in need. And these folks really do put their heart into their work. And so, not only thank you to all of them for being a part of PediaCast but just for what they do in general in helping families and children every single day.
Don't forget, you can find PediaCast in all sorts of places. I don't know how you came across this today but there may be an easier way for you to follow us. We're in iTunes, Google Play, on iHeart Radio, Stitcher, TuneIn, most mobile podcast apps including the Apple podcast app that just come installed on every iPhone that's out there.
Of course, the landing site PediaCast.org, we have our entire collection of archive shows and the Show Notes for each one of those, transcripts, written transcripts if you'd rather read the material than listen to it. Although, you know, I prefer you consume it as a podcast because that's what we're doing here. But if you don't have time to listen, you can skim the transcripts.
We're also on social media, Facebook, Twitter, Google+, and Pinterest. And always appreciate it when you connect with us there and share our content.
And, of course face to face, letting folks know about PediaCast when you see them, that means the most. I mean that word of mouth really makes a difference. And the whole point here is to have a place on the internet where we have trustworthy, evidence-based information. And that's what we were trying to provide for moms and dads everywhere. And so, every time you let someone know about it, you just help them to find a good place to get information.
So, we appreciate when you let your family know, your friends, your neighbors, co-workers, babysitters, daycare folks, grandparents — I mean, anyone who has kids or takes care of kids — and of course, that includes your child's doctor. We want every pediatrician to know and every family doctor, every nurse practitioner, anybody who takes of kids as a provider of children, we want them to know about PediaCast, so they can share the show with their other families.
And then, we also have a free open-access program for pediatric providers. It's called PediaCast CME. That stands for Continuing Medical Education. And it's similar to this program, we turn up the science a couple of notches and offer free Category 1 Continuing Medical Education Credit for those who participate. Shows and details are available at the landing site for that program, which is PediaCastCME.org.
Those programs are also in iTunes, Google Play, are also in the iHeart Radio channel. So, just search for PediaCast CME in any of those locations and you'll find us.
All right, thanks again for stopping by and until next time, this is Dr. Mike saying stay safe, stay healthy, and stay involved with your kids. So long, everybody.
Announcer 2: This program is a production of Nationwide Children's. Thanks for listening. We'll see you next time on PediaCast.next time on PediaCast.