An Exceptional Approach to Congenital Adrenal Hyperplasia

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Dr. Paul Thornton and Dr. Blake Palmer lead a lively round-table discussion on reaching clinical excellence through exceptional interdisciplinary care for patients and families.

Dr. Paul Thornton
Dr. Blake Palmer
Cortney Wolfe-Christensen PhD
Emily Haddad LCSW

Related Information
Congenital Adrenal Hyperplasia (CAH)
Treating Congenital Adrenal Hyperplasia
Cook Children's Endocrinology Department
Cook Children's Pediatric Urology Department

Transcript

00:00:02

Host: Hello and welcome to Cook Children's Doc Talk. Today we're talking about congenital adrenal hyperplasia. Cook Children's is designated by the Cares Foundation as a Center of Excellence for Congenital Adrenal Hyperplasia. Joining us are members of the team, Dr. Paul Thornton, Medical Director, Endocrine and Diabetes Program, Dr. Blake Palmer, Medical Director Pediatric Urology and Surgical Director Kidney Transplantation. Dr Cortney Wolfe Christiansen, clinical child psychologist, and Emily Haddad, a licensed clinical therapist and social worker. Welcome to all of you. 

00:00:39

All: Thanks for being here. Thank you for having us, happy to be here.

00:00:43

Host: Congenital adrenal hyperplasia or CAH, is one of the most common inherited metabolic disorders. We know that there are two forms of CAH, classic and non classic. Non classic is a mild form of CAH and fairly asymptomatic, while classic CAH  is very severe and often life threatening. From birth, the classic form of CAH affects approximately one in 15,000 babies born each year. While we can touch briefly on the non classic form, I'd really like to focus on the classic form of CAH and the unique challenges faced when caring for children with this disease. Dr Thorton, as the medical director of this program can you take us through an overview of CAH?

00:01:25

Dr. Thornton: Yes, congenital adrenal hyperplasia CAH as we like to abbreviate it, is a condition in which there is an enzyme deficiency in the adrenal glands and as a result we get a deficiency in some of the most critical hormones in the body for example cortisol with in excess of the sex steriods, particularly the androgens being produced. And why this is very important is that cortisol is essential for life and in times of critical illness our bodies make more cortisol in order to help us survive and children with CAH are unable to do this and hence they can have life threatening adrenal crises which can be manifested as hypotension and hypoglycemia and can be critically dangerous.

So with classical congenital adrenal hyperplasia there are 2 forms. there are those who are missing the cortisol and that would be called simple virilizing, and then 75 percent of the kids are missing both cortisol and aldosterone which is called salt wasting CAH, and that is by far the most dangerous of the 2 conditions.

00:02:31

Host: Dr Thorton, your specialty is endocrinology and Dr Palmer yours is urology can one or both of you talk about why you've combined the 2 programs and what that means in terms of patient care?

00:02:43

Dr. Thornton: Prior to forming the congenital adrenal hyperplasia clinic patients were seen isolated in either the urology clinic or in the endocrinologist clinic. And all of the patients, or many of the patients, had complex conditions that require the intervention of both urology and endocrinology. And in both clinics we operated in silos we did communicate with each other but we didn't provide all the psychosocial and emotional support that's required. So we had an opportunity several years ago to form a multidisciplinary clinic that was based on a model that had been performed in Oklahoma and we set that up here and so now patients come see us, they see us in one clinic. They see the urologist if needed the endocrinologist when needed the clinical therapist and the social worker and we get to take care of all of their needs both in terms of medical, educational. and psychosocial. And so really what we've been able to do is take a multidisciplinary team approach and we believe, dramatically improve the quality of care that the children get.

00:03:50

Dr. Palmer: In these cases, there's a great deal that I can learn from Dr Thorton and the endocrinology team about how I can best help take care of the patient I'm seeing at the same time that he is. There's a lot of patients unfortunately who do need to see multiple different doctors within the hospital and there’s some who just need to see a neurologist. But in this case there's a lot of discussion between the medical teams and the surgical teams that we can really produce a better product for the patient we feel.

00:04:17

Host: So basically this is a multidisciplinary approach but not really in the traditional manner. Rather than each of you meeting individually with a patient family you all come together as a team and meet with the family at one time. Why this approach and how does it benefit the care of patients and their families?

00:04:37

Dr. Thornton: Okay I'll take that one. The key thing about seeing the patients in the multidisciplinary clinic is that we meet all together at the beginning, we discuss the past history, our anticipated plans and issues for the day, and at the end of the day we meet again and do a wrapup,  making sure that we covered all the options. So some people would describe it as interdisciplinary others as multidisciplinary. In essence, we tailor the visits to the patients at each visit.

00:05:06

Host: And the benefit to the patients and families then is that they don't have to make as many visits or they don't have to spend like an entire day or how does that help them?

00:05:17

Dr. Thornton: The best benefit I think for the patient is that they get to ensure that we have complete communication. Everybody's on the same page, we’re all working together as a team for the benefit of the patient. Of course the secondary benefit is that they come and see us in one day. The visits are a little longer but they get to see everyone. But I think more importantly when we were seeing these patients individually in clinic we did not have the psychosocial support. There wasn't time for the proper education and so we're doing sort of fully integrated health care for those patients and at the end of each day I think the patient leaves better educated understanding their condition more comprehensively and thus better prepared for the difficulties that they will face out in the world on a daily basis.

00:06:01

Host: So how often does your team meet with each family?

00:06:05

Dr. Thornton: Typically we see patients 4 times a year, every 3 months. However in the newborn period where there's a lot of decision making that has to be done a lot of education that has to be done we would see the more frequently and then perhaps later in mid childhood or adolescence we would see them less frequently when their medical conditions are stable, when the families are very comfortable with what they're doing and when the child or adolescent has a good understanding. So the frequency varies from perhaps once a month in the initial newborn period to maybe twice a year.

00:06:40

Dr. Palmer: And different different members of the team may have more of a role at different time points and their course, depending on how their health is going also. For instance, from urology we may be more involved in girls early on in some the surgical decision making like not to have surgery or to have surgery and discussing those pros and cons. We may be more involved later on when they start to go through puberty and start mid season the females and then as they get older in teenage and young adulthood talking about sexual questions that they may have. For the boys we may not be very involved or needed much early on, but then when they go through potty training and then later on after they go through puberty, be more involved in those patients. So it certainly depends on the patient and depends on where they are in the process.

00:07:24

Cortney Wolfe-Chiristensen: Behavioral health is also available more frequently than the scheduled ordinary visits so depending on the experience of the family and how they're coping with their child's illness, behavioral health is available as needed.

00:07:38

Host: So we know that there are some very serious conditions caused by classic CAH, can you talk about the challenges and risks each one presents and how they're treated?

00:07:47

Dr. Thornton: From a hormonal perspective, the biggest issue we have is the risk for acute adrenal insufficiency where the body is not able to adjust to the stress of illness and make more cortisol. So we focus on teaching our families how to identify endocrine illness. How to increase their dose of steroids to take into account the increased need of the body and then when the child is not doing well how to do a intervention such as an emergency injection of hydrocortisone and how to get to the hospital quickly. When we give our families educational materials and emergency letters so that when they go to the emergency room they can give them to doctors who are not as familiar with adrenal insufficiency and adrenal crisis in congenital adrenal hyperplasia. Blake.

00:08:35

Dr. Palmer: So for the most part for most for kids an acute urologic or a problem or infection are not very common but they can occur and helping families be able to identify when that's happening and get them treated appropriately is important. In my opinion though, for kids that are born with congenital adrenal hyperplasia especially in the girls, who may have differences and their families anticipated appearance of their genitals or their female anatomy all of these families, maybe not the kid because the kid is usually very healthy, but the families have a crisis and that's where our behavioral health team is really important and I think should speak to that.

00:09:15

Cortney Wolfe-Chiristensen: From a psychosocial perspective, like Dr Palmer said, when these kiddos are born the parents describe the birth as traumatizing. Oftentimes the baby is born there not expecting the baby have atypical genitalia, and the baby gets whisked off to the NICU, mom's miss out on that skin-to-skin contact and that bonding that happens immediately after birth. And then the other thing that they report is just feeling isolated because when your child has a difference in their genitals it's not very easy to talk to other people about that. And we know the parents of these children have experienced levels of posttraumatic stress symptoms that are equivalent to parents whose children were just newly diagnosed with cancer. But when your child was just diagnosed with cancer you know you have an entire community that supports you in people making t-shirts and bracelets and bringing you food. And yet when you have a baby born with different genitalia you don't have that support. And then the last thing especially now with social media and post, “We’re on our way to the hospital to have a baby,” and then people are wanting to know did you have a boy or a girl? And our parents also report you know being inundated with text messages and people not being happy with just hearing it's a healthy baby.

00:10:27

Dr. Palmer: And there's a lot of challenges from the health care standpoint too. And this is why one of the things that we think is really important as part of our team is not only educating the families and educating the patients as they get older about congenital adrenal hyperplasia, but it's really important to us in a rare condition such as this though that can be very impactful is educating the health care community. One of the biggest challenges we have is that this is not common and so they'll be born at a hospital where often the nurses never had a kid who's been you know born with congenital adrenal hyperplasia, or CAH, and is unfamiliar with what what's going on what this is and so they are not purposely but they are because of their own uncertainty their at their lack of confidence in what they're doing they're not able to provide the good support that they need to and the parents sense this. And the parents talk about that later about the discomfort the nurses had with it. They feel like sometimes it’s because their kid had different anatomy. Often what it really is, is just the nurses or the health care staff just being uncomfortable with the diagnosis entirely.

00:11:30

Host: So what kinds of surgeries might be considered for female patients with CAH, and is there an optimal time in terms of overall health and recovery?

00:11:39

Dr. Palmer: So it's really important when we talk with our with our families who have congenital adrenal hyperplasia. The females often were exposed during embryology and during development when moms are playing with them to hormones that were different than what would cause their female genitalia to develop optimally and so sometimes this means that they are virilized or exposed to more male type of hormones, doesn't mean that they're males but it just means that they saw a male type of hormones, and this can cause changes right? And so they're on the outside and having a separate opening for they pee from and where the vagina would be, those can be fused together and so externally it looks like there's only one opening. There is still a very normal vagina, normal uterus in all of these girls with CAH. But it just may not be apparent from the outside. They also can have those hormones that make their female genitalia look a little different, more masculinized, and their clitoris can be somewhat enlarged. These can vary widely.

Some of these girls may have just very minimal differences some of them can have profound differences. And so things that are really important for us is being able to explain to the family and for us to understand exactly what their female anatomy is like and understand and help the families understand what are the important functions that the female internal and external genitalia and urinary system are supposed to do and if those functions will be different based upon the anatomy that they're born with. In some of those cases we will talk about procedures to separate the opening where they pee from and where their vagina is, to minimize their risk for any urinary complications and then later on to allow for typical vaginal functions that a, you know, young woman or a fully functioning adult woman may desire to have.  If not having those procedures wouldn't necessarily be the case or be optimal certainly there are some times during their lives where we would recommend that the servers are more optimal to be done but certainly recognizing that and a lot of times the surgeries and would not be required or necessary or necessary at those times. So early on in development, less than 2 years of age, that's a time where we can do these procedures very safely and successfully but have minimal impact on the patient's ultimate development, their recall of these procedures that are done.

The families in those cases would be making those decisions. But there are definitely times we counsel the families and give them the option is to wait until that patients older that patient could be after puberty into young adulthood before they choose to have those types of procedures. There are lots of reasons why families have chosen one option or the other and certainly lots of good reasons why parents have chose not to have surgery at all. And as long as this doesn't have any functional deficits for them and they're not having problems with urinating or urinary tract infections this is a child who can be very healthy whether they had surgery or not.

00:14:36

Host: So in terms of the surgeries, Emily. there's a lot of controversy around what kinds of surgeries may need to be done, as we just talked about, and when, particularly in girls. So why is the controversy?

00:14:47

Emily Haddad: Historically these procedures were completed on females with what we call concealment-centered model. What I mean by that is that parents were counseled to not educate their daughters about surgeries that took place when they were infants. Our team prioritizes a patient and family centered model of care we discussed the options of pursuing surgery in the option of not pursuing surgery with each family over several visits we also share with families that there is controversy about the autonomy of the patient and the full informed consent. We meet amdcounsel each family during several office visits as I mentioned before any decisions are made then the importance of full disclosure and education of the patient as the agent as it's appropriate is prioritized by our team.

00:15:29

Dr. Palmer: We also think it’s extremely important during these times is that they get education from the different members of our team independent of the surgeon also. And then we think it's really important that they seek and are provided information in any way we can from other families who've gone through making these decisions and who have they've had an experience right? They have an older child or their family's gone through this where they can provide a very different perspective than we can as health care providers their families who've been through this and we try and and make sure that they have the opportunity to talk with families who’ve chosen not to have surgery and what was that experience like for their family, and why was that right for them. And parents and families who’ve chosen to have surgery or even patients who were older and had surgery and why that may have been right for their family and right for them as well. So independent and lots of education for different sources are things we think are important.

00:16:17

Dr. Thornton: In addition we encourage them to contact the Cares Foundation which is a family support group that advocates for children with congenital adrenal hyperplasia and stimulates open discussion and helps direct patients into research protocols. So we would recommend all our families would go and look up at their website at www Cares Foundation dot org, where a lot of useful information and a slightly different perspective than they might hear from us can be found.

00:16:49

Host: So all of this combines to no doubt create a lot of emotional, mental, social and behavioral challenges that both parents and their families have to cope with. Current guidelines emphasize the importance of mental health in CAH  patients, so Emily you and Cortney are well versed in providing psychosocial care and services. Who's involved and how are patients and family members assessed and managed?

00:17:14

Emily Haddad: Our team prioritizes the behavioral health team meeting independently with the families. We’re also available by phone calls, email messaging. We use a comprehensive psychosocial approach to our assessment which means we take in the well being of the entire family as we address the individual with CAH. We attempt to understand every family's cultures so we can utilize that family’s strengths and coping with their child with a chronic illness. We know that certainly having a child with a chronic illness can lead to a lot of external stress, anxiety, depression, but with adequate interventions and support families can do very well coping with their child with CAH. 

00:17:51

Host: And do they meet here, or do you have support groups here on site?

00:17:56

Emily Haddad: Since the start of our clinic we have hosted family support group meetings and we also attempt to introduce families in clinic when it's appropriate. Sometimes this can be really helpful for one teen who feels very isolated to meet perhaps another teen who also has CAH.

00:18:13

Dr. Palmer: This is one thing that I really think this is kind of fun and it it's if we don't have a chronic condition that's rare we don't ever think about this. But if you live your life and you have something that really identifies you that's really core to yourself but you've never met anybody else who's like that you maybe have heard other people or whatever it can be pretty neat to meet a bunch of people. And for new families who have a new a kid with a new diagnosis they're learning about the opportunity to meet and see some excellent well developed healthy kids who are older can help ease some of that uncertainty about what's gonna happen there kid because now they can visualize, “Oh, this is a kid who’s in high school, who's very normal, he's got good grades who goes to school, who has these things,” and they see oh, it's okay right. And that's one of the things that I think that our team in these kind of groups does a great job with. As we don't have anybody who will be a teenager and just have never met anybody else was CAH. Or families who've just never had the opportunity to talk with somebody or meet somebody. It may be something that we underestimate, and I underestimated until I saw it actually happening, and it's it's a pretty good thing.

00:19:20

Cortney Wolfe-Chiristensen: For our support groups we generally separate our parents from the children so the children got to have a fun afternoon of activities that are related to CAH  but they might not necessarily realize how much they're learning about CAH  at the time because they are having so much fun. And then on the parents side we usually bring doctors Thorton and Palmer in for a little while to answer any medical questions that the family has and then we kick them out of the room and the rest the support group is just parents talking to parents and bringing up their concerns and we try to keep it as a really positive environment and really focusing on families coping skills and their strengths and what has worked for them.

00:20:01

Host: Fantastic. So Cortney, you're actually involved in research with regard to helping parents pf kids with CAH cope with their feelings about this diagnosis, can you tell us a little about the study?

00:20:11

Cortney Wolfe-Chiristensen: Sure we actually have an ongoing study right now that is supported by NICHD and what we're doing is we're developing an intervention that can be accessed online and the goal of the intervention is to help parents cope with the uncertainty that they have when their child is born with CAH. So this intervention was originally developed for parents of children with type one diabetes and then we adopted it and made it an in-clinic intervention for parents of children newly diagnosed with cancer and then this step we have adopted it and put it online so that it can be accessed by anybody at any time. And the first part of the project involved interviewing 30 parents of children with CAH  to really understand what their experiences were like and what information would be best to include in our intervention for those families who are going to be going down that road.

00:21:01

Host: Just to elaborate a little more what are some of the bigger concerns that a parent might have or a fear that they might have or things that they feel like they can't talk about with others?

00:21:13

Cortney Wolfe-Chiristensen: Absolutely I think that parents really struggle with finding the balance between seeking support for themselves and also their child's privacy. Right so trying to figure out how do we access and the adults in the community are in our family to help us but also allow our child to have the privacy that any child would have freight and to allow the child to make the decision about who he or she wants to disclose this diagnosis to. Really interestingly in the interviews almost everyone of the moms cried when discussing the delivery of the baby and actually we took that clinically and we have had a couple prenatal consults of moms who have suspected girls with CAH  and we've put together a letter, doctors Thorton and Palmer wrote one, and we send a letter to the mom's OB, to the pediatrician, and we give a letter to the family and it outlines what needs to be done. And when the baby is born if the baby does look like she has CAH it explicitly says you can leave the baby with mom to feed and bond normally and it tells them what labs to draw in who to call. And so that was something that happened in the midst of the research study because it was just so apparent that these moms really struggle. And then the other interesting thing. so the last question that I ask parents is what would you tell new parents of kids with CAH?  98 percent of them, moms and dads, all said, “It's going to be okay.”

The first year is really hard. They're trying to learn the diagnosis, how to take care of them, how to watch for symptoms of adrenal crisis. Iind of always being on their toes worried, but then after a year they fall into a routine and they understand things better and I had one mom who said when my child is out on the playground nobody knows now that he has CAH.

00:23:03

Host: So in the past there's been a big disconnect in care for patients as they transition between pediatrics to adult medicine, why is that and how does the CAH program at cook Children's address it?

00:23:13

Dr. Thornton: You raise a very important point. The literature would suggest that only 10 percent of adult patients with CAH get specialized care and this is very distressing and comes about probably because in the past this was considered a childhood illness and that when children became adults the would go through a period of time maybe where they didn't have health care or they would end up seeing a family doctor who would think, “Well this is just adrenal insufficiency we can handle this.” So historically the transition from childhood to adulthood has not gone very well. In recent years we’ve started to learn that as we have done a better job taking care of our patients and their lifetime survivals are now almost normal we need adult providers to be familiar with congenital adrenal hyperplasia.

00:24:08

Host: So Emily, at what age do children with CAH begin to transition to adult care? What is the process and what role does the child's primary care doctor play? 

00:24:18

Emily Haddad: We introduce our transition program to adult care beginning around ages 12 to 14. Depending on the child's maturity we work with the caregivers and our goal is to make sure that each patient fully understands the name of their disease, the disease process, medical and surgical history, risks associated with their condition, how to obtain their medications, navigate insurance, schedule appointments, what their emergency plans are. So essentially we try to transition all of the responsibilities from the parents, the caregivers, to the patient slowly over time. So we might make small goals at each visit to accomplish for the next visit.

Then along with Dr. Mary Cox we’ll transition the child into it adult care. It's important that we teach the child that although they do have a chronic illness they can manage this and reach all of their goals whether they be academic or career. We ensure that this child gains the responsibility at a young age so they can start working with their parents to gain that independence.

00:25:22

Host: So you work with the parents and the child a lot to to help the parents kind of let go and allow that transition, or is that just kind of normal?

00:25:29

Emily Haddad: Sure, so it's very normal for any parent of a child with a chronic illness to have anxiety or stress related to transferring those responsibilities to their child, so we support the parents and coping with that challenge and then also entrust that the child can learn these details and learn how to manage their health care.

00:25:48

Host: Of course as patients begin to enter adulthood they may start to consider having families, so what role does genetic counseling play in the care of patients and when should it be considered?

00:26:01

Dr. Thornton: When children with CAH  want to go on and have families there are a couple of issues that we have to really address. Number one is the importance of compliance and taking their medications in order for their reproductive health to be as good as possible. For example, if teenage boys and young adult men stop taking their steroids they can develop secondary tumors in the testicles that will impair their fertility. So whereas they may feel okay on a day-to-day basis and they may be lucky and not have any episodes of acute illness that could trigger an acute adrenal crisis they could impair their fertility. So number one is helping them understand that good compliance and following the medical guidelines will result in more likely than not normal fertility but not doing so increases the risks for infertility.

Genetic counseling is very important because the children need to understand the mechanism of transmission of congenital adrenal hyperplasia. It's an autosomal recessive condition and so they have two broken genes and they need to understand that approximately 1 in 55 to 1 and 60 of the population also has a gene that's broken for congenital adrenal hyperplasia. And so they need to understand their risks of having a child who could be affected more severely or less severely than they are. Thus, we believe it's very important to have a geneticist as part of the multi disciplinary team. A genetic counselor who can come in and help counsel the adolescents. We often do some of that ourselves but at the end of the day when they become an adult it's good to have that adult man or woman meet with the genetic counselors for final education and to make sure that they really understand the implications of their disease on future reproduction.

00:28:00

Host: So the team is also involved in research studies on the short-term outcomes of interventions for reproductive dysfunction. Dr Palmer, would you like to share the details?

00:28:10

Dr. Palmer: Yeah, excellent. We think it's really important and our ability to educate and give families an idea of what surgical procedures would hold for them in the short term but also in the long term. And this is just not great information that's previously been available. So in the short term, looking at just a family's acceptance of the external genitalia, whether they had complications or not, and so the the study that we're doing this with is at 13 different major pediatric centers who specialize in treatment and surgery in kids with congenital adrenal hyperplasia. And so we’re able to pool this into a study sponsored by the NIH that is the largest study on surgical outcomes of kids with congenital adrenal hyperplasia. In cases where we have rare conditions we think this is really important to be able to pool this to have accurate information that we can say is similar to what people can expect anywhere. The other thing that's really important is this study is being prolonged so that we will be able to provide long-term information. So really importantly, whenever we do procedures, especially if it's going to be something that impacts the woman's function but not until she's an adult, being able to follow those kids all the way into adulthood and be able to report back on what were those outcomes did they need any further surgeries. did they have any problems, we feel is extremely important. And so this study with continued followup, hopefully we'll be able to provide that information that's never really existed.

00:29:37

Cortney Wolfe-Chiristensen: And going along with that study we also have a simultaneous study looking at the parents and how parents are coping with their levels of depression, anxiety, stress, and trauma. And we're following those parents over time so we had baseline assessments and then after the patient surgery and now they're on yearly followup. This information is very helpful because we can use that to educate future families that it's typical for families to go through an increase in uncertainty prior to making surgical decisions. And then after those decisions are made that uncertainty comes down pretty significantly. And as part of the second part of the study we're also looking at behavior in children with CAH  and having their parents fill out behavior rating scales.

00:30:22

Host: So for pregnant women whose fetuses at risk of being born with CAH, what are the health risks to both mother and baby and how are those risks managed?  Doctor Thornton?

00:30:30

Dr. Thornton: There is very little health risk to the mom in terms of her own body and the safety of the pregnancy. Obviously the psychosocial risks of the anxiety of not knowing what the baby is going to look like and whether they're going to be critically ill and the newborn period or not are an ever present risk. However, to her health itself there's no real risk. For the fetus there is no inherent risk and no danger that you're not going to make it through pregnancy, the problems arise after labor and delivery when those hormonal deficiencies in cortisol become an issue or the excess hormones, the androgens, can have an affect on genital development. And so really what we focus on for ladies who are pregnant, who’ve been identified as being at risk is we focus on giving them a clear cut understanding of what will happen at the time of labor and delivery. In the next few days after labor and delivery we give them a plan that allows the physicians to be comfortable in allowing that baby to bond with its mother and gradually we arrange for them to come and see us in clinic so as they have knowledge of the future and what we find is that the anxiety of the unknown is the greatest problem.

00:31:51

Host: What is the long term outlook for CAH  patients?

00:31:55

Dr. Thornton: Medically, most CAH  patients should do very well. If we replace the hormones that they're missing, if we teach the families how to identify acute endocrine illness, and how to stress those appropriately, and we fix any of the problems that are causing health issues for example if a young girl has labia that are fused together obviously when the time for puberty comes along she's not going to be able to menstruate and get the blood out and so if we address these issues either by stopping puberty or by making an opening then we can generally prevent major problems that will have an impact on their health.

So what we find is the biggest impact that they have is the psychosocial and emotional stresses of maybe being different, of having an acute life threatening illness, even though they know that if they treat it appropriately they can eliminate most of the risk. However, sadly, every year we hear of someone who dies with adrenal insufficiency, whether it be from congenital adrenal hyperplasia or other causes. And so this is an ever present threat that the families need to understand.

00:33:10

Emily Haddad: As doctor Thornton mentioned, the long term outlook for CAH patients is good. With proper support and proper interventions individuals with CAH can live a very fulfilling life and reach their greatest potential.

00:33:22

Dr. Palmer: And our role with each different aspect that we provide is just to make sure that from whatever their individual goals are for their life that they aren't held back by CAH. 

00:33:33

Emily Haddad: What we've learned from our patients and from patient advocates is that when people are fully informed about their conditions and their medical and surgical history they do better. So we, our, team prioritizes the integrity of the individual by educating them fully on their own medical history.

00:33:50

Host: Fantastic. So is there anything else that any of you would like to add as we wrap up?

00:33:55

Dr. Thornton: One of the things that we found is that the families are faced with making some very difficult decisions. And what we've often found is they don't know the right questions to ask. So one of the approaches we take as a team is that when one physician or clinical therapist or social worker will say things to the family those of us in the room might ask some of the questions that we know the family should be asking but they're not asking because they don't know to ask those questions. And so typical things would be if we were having a discussion about the medical necessity of a surgery I might ask the surgeon well could we wait till the child is 12 or 13 and defer the surgery until that time? And then the surgeon, or Dr. Palmer, would then go through all of the pros and cons of doing that. So by the family seeing us question each other not because we're doing it because we don't think they know what they're saying but really asking the question on behalf of the family it empowers them to ask questions that they might be nervous to ask.

00:35:00

Dr. Palmer: And I think that's an excellent point. And it's definitely an area that is different than how I run a lot of my clinics because usually it's just me talking with and back and forth of patients. Having Emily, Cortney or Dr. Thorton, or one of the endocrinologists or other people on our team in there and us having a little bit of a discussion in front of families also helps them be involved. And it's an excellent way for us to make sure that the things we want to get communicated across actually are getting community across. And what we need to understand as health care providers is sometimes a lot of the things we say may be more complicated than it sounds like when it's coming out of our mouths. And what's actually being understood is way more important than what we actually say. One thing that we think is important when we hear from patients and families and when we're talking about our job or our role, is educating other health care providers, whether it’s staff in labor and delivery units or primary care providers, is that families may have questions or may be uncomfortable and then maybe those providers those health care workers may not be comfortable answering things or may not be comfortable around them. And the things that I would want anybody who may come across a patient with CAH or a  family who has CAH to know is that they're healthy, that they really are okay, it's okay to talk to them, it's okay to say they're not familiar with CAH, it's okay to say that they don't know exactly what this is. But what we want to make sure they know is, is be able to say, “But we know of a team that will be excellent to help you.” And we're going to get that information for you, and we're gonna be there to help out not feeling like you don't know what it is. And that's a lot of our job to make sure that were available for everyone and and to provide that education.

00:36:42

Dr. Thornton: It's important for other primary care physicians and pediatricians to remember that they can call us through cook direct connect 682-885-1940, and within minutes have an expert on the line who can guide them through talking to a family at any given time. The immediate crisis is the concern over the ambiguous genitalia but the medical crisis happens anywhere from 5 to 14 days later with acute adrenal insufficiency.

00:37:14

Cortney Wolfe-Chiristensen: And we're trying to help the family so it's not a crisis.

00:37:16

Dr. Palmer: That's correct right this is a group discussion just like we had this is exactly how we doing clinic is that Dr Thornton's expertise in those areas are gooing to different than what mine are. And I'm going to advocate for these things and so it's a group process that we work with so good work.

00:37:34

Cortney Wolfe-Chiristensen: We speak about the trauma that some of these families experience. The good news is that the human brain can heal from trauma. So these families can have very good outcomes.

00:37:16

Host: Thanks to all of you for taking the time out today to talk about the CAH  program here at cook Children's. The work you do is amazing and so important to the patients and families you care for.

Thank you for having us. 

We're so glad you could join us today. If you'd like to learn more about this program or any program at Cook Children's please visit us at Cook Children's.org.