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When Cancer Runs in Families: When to Worry; When to Refer · Pediatrics Now: Cases Updates and Discussions for the Busy Pediatric Practitioner

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The role of the pediatrician when a child is diagnosed with cancer is just to
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be there supportive for the family. They're a familiar face.
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They can reassure the family that they did nothing to cause this.
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In most cases, there's no way it could have been prevented.
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And I think, you know, even a phone call or, you know, a little bit of continued
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contact helps the families a lot lot because they're subject to a whole new
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team of people that they don't know.
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I'm Holly Wayment. Today on Pediatrics Now, we're talking about cancer,
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when cancer runs in families, when to worry, and when to refer.
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Joining me here in the podcast studio is a dream team of people who have high-level
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training to help children and families going through often the worst time of their lives.
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Joining me here in the podcast studio is Dr. Gail Tomlinson.
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She is our division chief of pediatric hematology and oncology.
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And Dr. Tomlinson, you have been doing this work for many years that affects so many people.
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One in four people will develop cancer sometime in their lives?
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Yes, I would say 25 to 30 percent of people overall will get cancer sometime
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in their life. most of them at older ages, though.
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And in fact, the strongest risk factor for getting cancer is getting older.
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Children's cancer is different. It occurs in very restricted age groups,
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and different types of cancers occur at different ages.
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I'm a pediatric oncologist by training. I see and treat children with cancer,
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but I've also spent a lot of my career working with families at highest risk of cancer,
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who may have children or young adults with different kinds of cancers.
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Working with multiple generations to assess risks.
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And try to help guide them through potential ways of screening or methods to decrease their risk.
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My training and expertise is really focused, however, on the challenge of working
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with children in cancer-prone families.
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And we work with this in the clinic and also in the research setting as well.
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Our pediatric practitioner listeners, they have so much coming at them.
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When it comes to your area of expertise, and they know that they have a family
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they're seeing, and one of those patients, one of the children in the family
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has cancer, what's your advice?
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Well, I think one piece of advice is you can assure the parents that the cancer
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came about not because of anything they did, not because of what they ate,
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not because of what their lifestyle was.
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In most cases, we simply don't understand the etiology of cancer in children.
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There is a percentage, however, we know that is caused by genetic predisposition,
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and our job is to tease out and determine which children with cancer develop
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this because of a genetic predisposition and if there's any risk to others in the family,
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and if there's anything we can do for the family to decrease the risks.
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And is it okay if I call you by your first name? Absolutely. listeners.
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So Gail, let's talk about a case.
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So say there's a four-year-old child who has a brain tumor that's cancerous.
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Well, first of all, brain tumors are the most common solid tumor in children.
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Leukemia is the most common cancer overall, but brain tumors is tight second in frequency.
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Most brain tumors are not associated with a precise cancer risk,
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but about 10%, maybe a little bit more, but not much more, may be associated with a genetic risk.
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We look for physical signs in a child with a brain tumor. We look at cafe au
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lait spots or little brown spots on the skin.
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These can suggest neurofibromatosis. I think we talked about that last time on a podcast.
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But this is only a very small percentage as well. We also look for the existence
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of cancer, particularly early-onset cancers, in family members such as parents,
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aunts, uncles, and cousins.
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And although we don't do genetic testing on everyone as a standard of care,
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genetic evaluations is becoming more and more common in children with cancers,
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but with brain cancers in particular.
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But we do look carefully for signs of hereditary predisposition and we do involve genetic
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counselors in our work to help us identify signs of potential predisposition
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and when genetic testing might be indicated.
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And so for this child with the brain tumor, what specifically,
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before we go to some of the genetic testing, is there anything else that the
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pediatrician should be looking for and say, yes, I think your family should go for genetic testing?
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Well, I think they should know the signs and symptoms of a brain tumor,
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early morning headaches, headaches that are getting worse, problems with gait,
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complaints of double vision. Those are just the early warning signs.
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And then say after this child's already been diagnosed. After they're diagnosed.
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Well, I think getting them into treatment is obviously important.
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And then I think just providing supportive care, reassurance.
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Sometimes when the pediatrician is and the family lives far away from the hospital,
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they can help with some of the things that can be done near to a home,
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like checking blood counts,
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being available to advise if they develop a fever or other symptoms,
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and also just be as a liaison to us as well.
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So, and you all see patients, it's in the Horizon Tower on the ninth floor at University Hospital.
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Correct. And so joining us here is Kirsten Murray.
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She's a genetic counselor. And Kirsten, your background, you did some,
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you worked for a crisis hotline and had to deal with people calling in who didn't want to live any longer.
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And you also helped in a rape crisis hotline. Tell me about that.
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Yeah. So prior to going into my graduate school, I volunteered with the crisis text line.
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So essentially when people were going through hard times in their lives,
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maybe were having suicidal thoughts or didn't want to live anymore or just having
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really big, overwhelming feelings.
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And they could text in and have somebody there to kind of talk them through
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it, as well as provide support for any resources that they may have needed.
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And then prior to that, I did volunteer with the Rape Crisis Center here in San Antonio.
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That one wasn't a text line. It was answering calls for people that may have
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just gone through sexual assault or were coming up on like an anniversary or
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were just having a really hard time.
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So again, it was providing support, providing resources for people in those situations.
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Do you see the genetic counseling that you're doing that, like this other work
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that you've done that obviously helps people, but the genetic counseling is
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empowering people about their own health, but it can be so complicated too.
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Yeah. So when it comes to genetics, there's a lot to kind of go through and
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it's a lot for people when they're coming in, they're going through a cancer
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diagnosis or somebody that they love is going through a cancer diagnosis and
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that's a lot for them to take in.
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So having somebody to kind of be there to guide them through the process,
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Kind of hold their hand, walk them through what this means, what testing could
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look like, all of the risk assessment, things like that.
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So we're talking about this case, the four-year-old child who has brain cancer.
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So say the pediatrician recommends that we need genetic testing.
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What would you look for? Would there need to be other cancer in the family?
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There's quite a few things that we look for when we're doing like a genetic
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counseling session. So we start off by getting some medical history because
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sometimes even if the patient themselves has other findings, like Dr.
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Tomlinson mentioned the cafe au lait spots, that in and of itself may warrant genetic testing.
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If there's other cancers in the family, of course, that might pivot our plan.
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So instead of looking for one condition, we may be looking for multiple.
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So really, we're looking for other cancers in the family, other symptoms for
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the patient themselves, just kind of a lot of things.
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And do you have any advice, though, for pediatricians? When would be...
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I really wanted to make it clear, like when should, because they get a lot of
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questions about genetic testing.
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So who qualifies for genetic testing?
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Yeah, so that's a good question. We have kind of national criteria that we follow for genetic testing.
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So if a kiddo comes in with a brain tumor and let's say their mom had like a
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history of breast cancer in her 40s or even earlier in her 30s or 20s.
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Potentially we would start thinking of other conditions such as like Leigh-Fraumeni
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syndrome. That might be a kiddo that we want to see.
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Sometimes if the cancers are later in ages, so if it's like colon cancers or
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breast cancers in like the 40s, 50s only, then maybe we want to start with testing
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for the parents rather than starting with the kid themselves.
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Can you tell me about Leigh-Fraumeni syndrome? It's not the most common,
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but it's one you see often?
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Essentially, it's caused by harmful genetic changes in the TP53 gene,
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and it's associated with an increased risk for cancers kind of throughout the body.
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So we think of really early onset breast cancers, osteosarcomas, soft tissue sarcomas.
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You can also think of central nervous system tumors and kind of,
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there's some other main ones that should raise a red flag, like an adrenal cortical carcinoma.
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So certain types of cancers, kind of tend to clump together.
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And so for this child, what specifically would need to be in the family in order
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to go through the genetic testing for it to be covered by insurance?
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Or do you want to say anything there?
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So if the kiddo just has a brain tumor in and of itself, so no other findings for the kid,
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If he's got a family history of cancer, so multiple people on the same side
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of the family with cancer. So like mom had cancer, a maternal aunt.
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So if we're seeing like a pattern of multiple people, that would probably be
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our biggest clue to go ahead and pursue testing.
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And then when you test, it depends on the child's age. Can you tell me about that?
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So as far as testing goes, are you asking about like sample type or?
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I know it can be a blood test, saliva, cheek swab.
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Tell me about that first, and then we could go into my question.
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Yeah. So when we do testing, there's different types of samples that we can
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collect. So we can do a blood sample.
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Normally for the ones that can't give a saliva sample or it's hard to get like
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a cheek swab, that's our go-to.
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That's also going to be our sample type that has the lowest risk for a sample failure.
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But for the kiddos that are older in age, so like they can produce saliva enough
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to spit in a tube or they can hold their mouths open long enough for us to get a good cheek swab,
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those are options as well. So we don't always have to poke them and get blood.
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And then is it a child can be tested after a certain age?
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Like you don't want to test too early or can you tell me about the criteria
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there? Yeah, so that is condition specific.
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So some genetic conditions do show up with childhood onset cancer,
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such as neurofibromatosis type 1 or Leigh-Fraumeni syndrome,
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while others such as like hereditary breast and ovarian cancer syndrome are
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adult onset cancer syndromes.
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So that kind of goes back to if all the cancers we're seeing in the family are
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older in age, 40s, 50s, where the parent may meet criteria, we're not going
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to test the kid for an adult onset condition.
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So really, it's what we're seeing in the family, what ages people are diagnosed
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at, if there's any other symptom.
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It can be really tough if one child is found to have that risk,
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higher risk, and the others don't. And is that where we could...
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To go to Dr. Leanne Embry, clinical psychologist at the University of Texas
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Health Science Center and also University Health.
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Thank you for also being here today in the podcast studio. Thank you for having us.
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So tell us, where do you step in to help these families who are going through
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the hardest time of their lives? Right.
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So we have two psychologists, myself and Dr.
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Crystal Robinson, who are part of the Pediatric Hematology Oncology Treatment Team.
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And we provide support to children and their families across the spectrum of diagnoses, really.
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But we also get involved when a family comes in for genetic testing because
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there's a lot of distress inherent in that process.
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We try to do a lot of preparation with families for what the outcomes might
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be if they consent to the testing.
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And that includes the possibility that one or more of their children may test
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positive for a particular predisposition syndrome and the others may not.
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Leanne, how crucial is the psychology part of it, that counseling and going
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through this tough time?
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Well, I'm probably biased, but I think it's very important. And I also think
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it's sort of a value-added service that we offer in our program.
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Well, and I know you, we were talking about it, when you were going through
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your training for this, you had met an adolescent with leukemia.
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Tell me about that. I did. So I actually came to San Antonio to do my pre-doctoral
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internship here at the Health Science Center in the Department of Psychiatry.
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And one of my long-term psychotherapy cases during that year of training was
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a young woman who was 16 and she had been diagnosed with leukemia.
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She was in the middle of treatment And was having a lot of anxiety and depressive
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symptoms around that, around the
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social isolation and inability to attend school and changes in her body,
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which for her included weight gain and hair loss and some visible scarring.
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And that was really my first exposure to a child with cancer.
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And I sort of fell in love with her and with that process and found a different
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niche that I didn't even anticipate when I entered training.
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And found that I was really drawn to the medical side of things.
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So providing psychological support in the midst of a medical trauma just felt
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like a very good fit for me.
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And can you tell us a little more about your genetic counseling when you're
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talking about people going through all of this? Yes.
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So we get involved in several different areas.
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For a child who has tested positive for a genetic predisposition but does not yet have cancer,
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we provide some age-appropriate patient
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education and anticipatory guidance for the
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family about what they will experience so for
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example they may need to do a full body MRI every year and so we help help the
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patients understand why they need to do that and what they will experience during
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that process to try to to help with some of the anxiety they may that may be
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feeling and a big part of this, as we're talking about,
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is the knowledge is power, but it could also be stressful.
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But having the right surveillance is crucial.
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That's right. And so while nearly everyone has some anxiety around the time of scans,
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so MRIs or CT scans just inherently cause anxiety for many people,
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I also try to reframe it as a point of reassurance.
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So it's our job to worry about whether or not they have concerning findings.
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And that's why we want to see them regularly for follow-up and for screening.
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And that way they don't have to be overly concerned about whether they may be developing symptoms.
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I don't know if I really said that in a good way, but I could maybe say that differently.
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I thought that was good. I think, and it's such an honor to talk to all three of you.
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So say for this, the four-year-old child with a brain tumor.
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So say it's found that he's at higher risk for cancer again,
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and then one of the other children in this family is also at risk,
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but two others are not. Right. And that does happen.
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So one of the things that I think is most important about my role is trying
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to allay some of the fears for the parents and the guilt, even for children
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who have cancer and do not have a genetic predisposition.
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Parents often feel guilty about, is there something I could have done to prevent this?
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Should I have taken him or her to the doctor sooner?
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And so we really try to help support them through those feelings of guilt and
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help them understand that it's not their fault and it's not something they could have prevented.
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When it comes to the different outcomes for different children in the family,
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that's really difficult because the children are aware of the differences.
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They're aware that two of the siblings have to go through surveillance visits
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and pokes and prods that the other two kids don't have to experience.
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And it's sort of all tied up in this story.
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Life is not fair, right? And so helping to support them through that is,
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I think, is really important.
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I can build on that a little bit. I'm old enough that I actually knew Dr.
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Fred Lee of Lee-Fraumeni Syndrome, and he was kind of a super mentor to me from afar, role model.
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Well, I didn't work directly with
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him, but I went to many of his talks and emailed and visited him once.
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But when the testing became available, he had been studying these families that
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had multiple individuals with cancer, and the families were also very tight-knit, very.
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Concerned about each other.
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And then when testing became available, he was very worried about exactly what
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you said and what Dr. Embry elaborated on.
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If one person tested positive and somebody tested negative, then he would worry about survivor guilt.
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And the person who tested negative may take it just as hard as the one who tested positive.
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And then it's only natural that the parents could treat the two children,
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not intentionally, but look at them differently.
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I mean, one of them has a lot of doctor's appointments, gets scans,
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worry about it. and the other one might sit at home while the other child is
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at the doctor's. And I think that can be hard on families, too, in multiple ways.
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That's right. I agree. I think parents often struggle with trying to provide
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enough attention to all of their children, even when all of their children are
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healthy, right? That's a struggle for all parents.
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But when you have one or more identified children who either are ill or have
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a predisposition, and that's even more of a struggle for parents.
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For many of the syndromes, we do ask our families to bring their children in
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periodically, in some cases every six months, in some cases every three months, in some cases yearly.
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And when it's every three months, say, that's a major toll on these families.
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And sometimes they go for a year, they skip appointments, and I've had them
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tell me that they experience a lot of anxiety, and we do involve our psychologists
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in that, and they're very instrumental.
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But sometimes I tell them, but if you come every three months,
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like Dr. Embry said, you're getting scans, and that's reassurance.
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If you skip and come every 15 months,
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then if there is a cancer developing, there's a longer time that it can be developed,
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and it's a greater risk, and there's probably a little bit more to worry about
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than if you come every three months.
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Chances are if we find something, most of the time it's going to be small.
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Sometimes it's going to mean a biopsy. Sometimes it's going to be a biopsy that
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doesn't reveal anything serious.
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And that's problematic too because then we put them through a big procedure,
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an additional worry that's something that doesn't turn out to be significant.
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So a lot of stress, a lot of emotional ups and downs going through screening.
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That's why we really depend on Dr. Embry and her colleague, Dr.
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Robinson, to really help us and help the families, guide them through and assist
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them at different points during the screening process.
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If a family has eight kids and three children have cancer and they're saying,
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what is going on with our family? We need to be genetically tested.
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What would you say? That would be very significant. And like Kirsten said,
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it depends on what type of cancer.
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There are many different syndromes. If they were three different cancers involving
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different areas of the endocrine system, different hormone-producing organs
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like the adrenal or the pancreas or the pituitary,
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there are syndromes that we look at, the multiple endocrine neoplasia syndromes.
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If they're sarcomas and brain tumors and maybe a 20-year-old who got breast
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cancer, than we think of the TP53 gene.
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So it depends on the types of cancers.
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They don't always have to be the same type of cancer in the family,
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but there are different clusters of different types of.
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Cancers that suggest different syndromes, and that helps guide us as to what genetic tests to order.
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Sometimes in a family, we see multiple types of cancers at all different ages
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and types, and sometimes that's when we just do a big array of maybe 70 or 80 different genes.
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We try to be a little bit more specific than that, but sometimes we just see
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things that doesn't ring a bell for or any particular syndrome, so we test broadly.
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And then sometimes we don't test at all. If a family comes in,
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child has leukemia, and the parent says, and my grandmother died of this,
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and my grandfather had this, and we have a cousin who has that.
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If you recall that one quarter to one third of people are going to get cancer
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in their lifetime, and if you look at all the individuals in the family,
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that's probably just a population risk.
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So sometimes we don't encourage genetic testing at all.
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And that's where the genetic counselor comes in as well in assessing the risks
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and trying to explain this to the families that genetic testing might be beneficial
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or it really might not be that helpful.
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Anything else you want to say, Gail, that we haven't mentioned yet about for
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the pediatric practitioner listener when you should refer for genetic testing?
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Well, I think when there are siblings of a child with cancer and there are other
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cancers in the family, like if a parent has had cancer.
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At a young age, like breast cancer? At a young age, like breast cancer in the
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20s is very significant and associated with a childhood cancer.
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Less commonly, but still significant, is early-onset colon cancer.
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Now, I want to be careful how I phrase that because right now we are seeing
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more and more early-onset cancer in young adults in their 30s,
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and that's another type of mystery that hasn't been figured out,
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not necessarily genetic.
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But early-onset breast cancer, even a colon cancer at age 22 or 24,
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that should ring a bell that this is not typical and is there a genetic factor at risk.
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But again, as Kirsten said, we would often test that young adult first,
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either the parent or it could be an older sibling.
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We would probably test them first if it was a type of cancer that generally
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is more common in adults.
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If other adults in the family had other sarcomas, sarcomas can run in the family.
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That can be P53. It can be other genes as well.
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So we might test the child first. We might test the other relatives first. It just...
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Depends on just an evaluation of the pedigree or family tree.
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And also sometimes who's available, who's most willing and able to go through
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the genetic testing process.
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And sometimes it's a child, sometimes it's a family member.
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And it's usually covered by insurance? Often it is. And it's not that expensive.
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I mean, it's, you know, I mentioned already, ready. I've been doing this for a while.
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Well, you really can't say you've been doing this since the early 1990s. Okay.
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So I finished my training in 1992, I believe, and I've done cancer genetics
25:55
since then, in addition to other types of pediatric cancer care.
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So when would you worry? You were answering about the cost. Oh,
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yeah. Yeah, cost. It's changed a lot.
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It's changed a lot. It's Initially, it was several thousand dollars and also
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several months of waiting sometimes to get a result back.
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And then it went to several weeks, and now we can get a cancer genetic test back.
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Almost any genetic cancer test we can get back in about four weeks.
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Now, in a few instances, when we look at all the genes in the genome, that can take longer.
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We don't do that very often, though, because it's frankly not that helpful for patients.
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Patients we tend to see, but we'll often do 20 genes or 35 genes or 70 genes.
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There are lots of different types of cancers in the family.
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And ideally, we'd want to test the person in the family that looks most like
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it was a genetic, like the most relatively young age of onset.
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Those take a few weeks to get an answer back.
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Sometimes they surprise us and tell us in two weeks, but we often say about a month.
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And you know it might cost
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an insurance company a thousand dollars some of them are
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less expensive and with justification most of the time we can get coverage sometimes
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people will come in and say i really want to know if i have a genetic predisposition
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in this gene but they don't have any of the features of hereditary cancer sometimes
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particularly with adults insurance won't pay but
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they can be options for paying out of pocket,
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which could be a few hundred dollars, but it's not an exorbitant cost.
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Kristen, what do you think about this? I was just going to say to add on to
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that, even with insurances, if the copay deductible is really high,
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they haven't met their deductible, it's going to be like $600, $700.
27:52
A lot of the commercial labs that are the most frequently used do have a patient
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pay option. So instead of going through insurance, the patient can pivot their
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billing and it's usually around 250.
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So that's whether the patient just wants to pursue testing on their own,
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even though they don't meet criteria or insurance deductible copay is like really
28:13
high or they're not going to cover it.
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So that's usually the max I would quote for a patient for testing. Okay.
28:19
And Gail, do you have any advice on what would you say to, for pediatricians,
28:25
what would you suggest they say if a family does not have a child who has cancer,
28:32
they have some relatives that have cancer, but they really want to get that
28:35
genetic testing? Like, I want to know.
28:39
I would call on our genetic counselors. No, seriously, we would really want
28:45
to ask why they want to know.
28:47
You know, some people, when a child is born, would want to have their child
28:52
tested for every gene, and whole exome sequencing can be done on newborns in
28:59
conjunction with parents.
29:01
I don't know how often that's done, but I've heard of parents wanting to have
29:06
that done. It's not being done at university hospital?
29:09
No, it's not a routine test. And that would be more expensive.
29:14
And really, whole exome is most effective for children who have serious but undiagnosed diseases.
29:24
And sometimes it's effective in finding a suspected cause.
29:29
It doesn't necessarily lead to a treatment. but really talking to the parents
29:34
about why they would want to know that and letting them know the cost and the time.
29:41
And I don't know what the going rate is for whole exome, but it's much more than a gene panel.
29:47
Whole exome is a few thousand. So if you can't, so if insurance isn't willing
29:53
to cover a whole exome, it's going to be about a few thousand out of pocket for the patient.
29:57
And it doesn't predict necessarily if the child will develop the cancer just at higher risk or when.
30:04
It could be much later in life. Correct.
30:06
So it'll tell us that there's an increased risk potentially,
30:10
but it's not going to tell us 100% guarantee this child is going to develop cancer.
30:15
It won't tell us, like, so for example, leframini, it affects many parts of the body.
30:20
It's not going to tell us exactly what part of the body, and it's not going
30:24
to tell us, like, you know, the biggest age risk factor for them either.
30:29
So there's not really much that could be done.
30:31
Am I understanding that correctly? Right now, there's not from guidelines.
30:36
Now, there is discussion about doing cancer gene panels, adding them into newborn screening.
30:43
And there are a few places in the country that's done that on a research basis.
30:48
And, you know, really, if they're worried about cancer, there aren't so many
30:53
cancer genes that we understand that we would need to look at every gene that's known.
30:58
If we look at, you know, 50 or 60 genes, that's probably just about all the
31:03
genes that are really significantly associated with childhood cancer.
31:07
And someday there may be those gene panels added to newborn screening.
31:13
What you would do with that, we're not sure.
31:16
You can't screen for every type of cancer in every patient, but I think the risk and benefit is.
31:25
Analyses have not been really tested on large populations, but there are some
31:29
studies coming out, and it's been talked about.
31:32
It's even been talked about doing it in Texas, but we're not there yet.
31:36
And that would, I think, also require another layer of consent.
31:43
I mean, not sure what you would, how you would advise, you know,
31:47
mothers and fathers of newborns, and that's, Yeah, that's a very different scenario
31:53
that we haven't reached yet.
31:56
But, you know, it could be coming in the future.
31:59
When I was in training, I didn't think we'd be able to predict who would get
32:03
some of the more common types of cancers we've seen in adults and didn't know that there would be.
32:09
Now there are over 50 pediatric cancer genes that are known about,
32:15
and we've come a long ways in the last two decades,
32:20
and particularly in the last decade as well, as far as ease of testing,
32:25
knowledge of potential interventions to decrease RICs.
32:31
And there are some genes that we can link to surveillance programs to try to decrease risks.
32:40
And then there are others that we have really very poorly developed ways of
32:45
doing effective surveillance for as well.
32:48
So lots of unknown issues here in doing large-scale genetic cancer screening.
32:54
And Gail, tell me about a surveillance program.
32:57
Program that is successful that we're doing now?
33:01
Well, I think in neurofibromatosis, I think we discussed this last time,
33:06
there are certain target areas of the body that are particularly prone to develop tumors,
33:13
and we watch them very carefully, very carefully by physical exam,
33:17
by symptoms, by development of certain types of masses, and then certain type
33:23
of eye cancer that can develop in young children.
33:26
So our ophthalmologists play a huge role in the surveillance.
33:30
And then in adulthood, patients with neurofibromatosis, when they get to be
33:37
about 18 to 20, we start thinking about breast cancer surveillance in women.
33:42
And then there's talk of doing whole body imaging periodically.
33:47
Not sure if this should be every year, every three years.
33:51
Those studies have not been done, but there is talk about continuing cancer
33:56
surveillance throughout the life of somebody with NF1.
33:59
For the Li-Fraumeni syndrome, we have talked about, we do a lot of sonography
34:06
early in life because some of the tumors developed in the abdomen.
34:11
And then in the teenage years, we rely more on MRIs, doing more and more whole
34:15
body MRIs, which are now available at our public hospital here,
34:19
University Hospital, and other imaging centers as well.
34:24
And then really getting the women, the girls, as they become adults into breast cancer screening.
34:31
Also advising them that for breast cancer screening for them might be a little bit different.
34:36
We try to avoid radiation in screening, try to avoid mammograms and go more for sonograms and MRIs,
34:44
just because we know radiation can be an aggravating factor for somebody who's
34:50
already genetically prone to get cancer.
34:53
Can someone who isn't already genetically prone go for the sonogram rather than
34:57
the traditional mammogram?
35:00
They can. I mean, they can talk to their physician about whether that's appropriate.
35:06
I mean, lots and lots of data on mammography screening, and I think it's agreed
35:11
upon that that's an effective way of screening sometimes for young women,
35:16
women in their 20s, whether they're cancer-prone or not.
35:20
Sometimes mammography is paired with ultrasound because breast cancer composition
35:27
in young women is different, so mammography might not be as effective in some
35:31
women with dense breasts, but a sonogram might pick up some other things.
35:34
So it's not necessarily an either or, but should you combine them? And it really.
35:41
Requires really a discussion with a physician or the imaging physicians as well,
35:46
the radiologists, which is better for this.
35:49
So in our Pediatrics Now news feed, we have, so what you were referring to for
35:53
our listeners, an NF1 podcast, if you search that.
35:56
We have a Grand Rounds episode from last week on bone health.
36:00
We also have another episode with one of our pediatric neurologists about that
36:05
That small percentage when a headache is worrisome and needs more testing because
36:11
it could be a brain tumor.
36:13
What about a teenager who has a bone tumor and that family? Tell me what you would do there.
36:21
Well, teenagers tend to be very active.
36:24
They tend to sometimes play sports, get in injuries, and complain of pain in
36:29
a bone. and pain in a bone that goes away after a couple of days,
36:34
after a game or after a track meet is probably not something to worry about.
36:39
But a pain in a bone, a leg in a teenager that doesn't go away can be something
36:46
to be concerned about, something that's watched over time, not too long.
36:51
Well, sometimes we see presentation of bone tumors where the pain has been there for quite a long time,
36:58
Sometimes with Ewing's sarcoma, the pain can be there for weeks or months and
37:03
mistaken for something that occurs more commonly,
37:06
back pain, sprain or something.
37:09
But pain that's getting worse, not better, usually requires more of an evaluation, at least with imaging.
37:17
Also, any suspicion of a mass or an asymmetry between the limbs should be followed up on.
37:27
Anything else you want to say about like when you would be really worried,
37:30
hey, this family needs to get in to get genetically tested?
37:34
Well, when I see certain patterns within the family, we've talked a lot about
37:39
this one syndrome, the Leigh-Fraumeni syndrome, which we do see because we're
37:45
a referral center and we see quite a few families.
37:47
But there's also, I've studied in the past tumors of the liver, which are fairly rare,
37:54
but we've also had patients who have a family history of colon cancer,
38:01
and then a child gets a liver tumor.
38:03
And that's another association.
38:06
It's not common, but it's one that we see in our clinic.
38:10
So when I see a liver tumor and they tell me the parent has had colon cancer,
38:17
maybe at age 23 or something, that's a pretty sure sign there's something going on genetically,
38:23
and that's a condition of familial polyposis.
38:27
And we really have to look and see if other adults and other children are at
38:33
risk. And we do that by genetic testing.
38:35
And the child might need to get colonoscopies throughout his or her life.
38:39
The child would have to get colonoscopies starting around age 11 or 12 and then
38:43
followed for development of polyps.
38:45
But bone tumors, brain tumors, those are the ones more common in childhood.
38:51
Still not common, right? Right, right. Brain tumors are one of the most common.
38:56
Solid tumors and then bone tumors are another.
39:00
Solid tumor that we see often. And then less commonly, but tumors of muscle tissue.
39:05
Those are rhabdomyosarcomas or other soft tissue sarcomas.
39:10
Do you want to reiterate with brain tumor, what are some of the red flags?
39:14
For diagnosing a brain tumor or things to look at for home.
39:19
And as I preface this by saying brain tumors are rare, but, and lots of kids get headaches.
39:25
We have an episode coming up on headaches.
39:28
Good, good. I'll listen to that one for sure. But headaches that occur early
39:32
in the morning, headaches that occur every day and tend to be getting worse
39:39
even over a week or two, that's concerning.
39:42
Now, it could be a head cold, sinusitis, but the headaches are severe and getting worse.
39:48
Visual changes, change in vision, seeing double
39:51
vision and then headaches and
39:55
nausea together yeah headaches and nausea together that
39:58
can be yes because or a migraine right couldn't it well
40:01
migraines are pretty common yeah but they're sometimes a little bit hard to
40:05
diagnose too that's why we need that podcast on on headaches so yes that's coming
40:11
with dr azra akbar so she's a neurologist who just joined the team at the The
40:16
University of Texas Health Science Center and University Hospital. I look forward to that.
40:19
And then any change in the way a child walks.
40:24
Now, a young child, a toddler, is going to stumble a little bit,
40:27
and that's why we call them toddlers, because they toddle along and they bump into things.
40:31
But an older child who had been walking well and all of a sudden starts stumbling
40:37
and bumping into things and falling over repeatedly when they were walking well
40:43
before, I mean, that's a concerning finding as well.
40:46
This is also insightful. I know, Gail, you all are doing research to help families
40:52
on this road once they have genetic results that shows that cancer is running in their family.
41:00
Yeah. I mean, we've done lots of research looking at which genes go with which syndromes.
41:07
And right now, after years of diagnosing children with certain syndromes,
41:13
we're looking at really how to help families cope and go through the surveillance process.
41:20
For adult cancers, breast and colon cancer, there are very well-established
41:26
evidence-based practices of recommending surveillance to detect cancers early that are effective.
41:34
And in children, though, it's first of all the guidelines, how often a screening
41:42
should be done, on what kinds of screening is not that well fleshed out as far as recommendations.
41:50
So the recommendations, there are many professional groups, I'm part of one
41:55
of them that goes over recommended screening guidelines every few years and
42:00
they do evolve with time.
42:03
But it causes a lot of, it's definitely a burden on the family.
42:08
It causes a lot of stress and worries.
42:10
And I think Dr. Embry has already commented on that.
42:13
I don't know if, and she's a big help to us. And one of our research studies
42:17
we're doing now is just evaluating what are the stress factors?
42:23
How do parents cope with going through surveillance? And what are the barriers?
42:27
What are the things that make it difficult?
42:29
Is it the cost? Is it taking time for work? It's having to leave the other kids
42:34
at the babysitter to take the other kid to the hospital to get their Q3 months
42:39
or Q6 months, whatever, MRI or sonogram.
42:43
So you have specific funding that you wanted to mention? Well,
42:48
our current grant is from SEPRA, the Cancer Prevention Research Institute of Texas.
42:55
And then we also have funding from the Hyundai Hope on Wheels to help facilitate
43:01
our genetic testing efforts and make genetic counseling more available to more families.
43:07
Families but right now we have a it's a
43:10
four-year study may end up
43:13
being a five-year study and we're collaborating with
43:16
several sites in Texas as well two in San Antonio
43:19
us and Christus Children's Driscoll Hospital in Corpus Christi and El Paso Children's
43:26
so we we hope we will learn more about And we hope we will just find ways to
43:34
help families cope with going through all the surveillance.
43:38
And is it also looking at the right types of surveillance or more how to deal
43:44
with the stress and the knowledge?
43:47
This one is this particular case.
43:51
Project is basically looking at the barriers for testing and the anxiety and
43:56
the worry and just things that make it hard for parents.
44:02
And then we're also looking and we'll be surveying them for what helps, what makes it easy.
44:07
Does it help to have a gas card to fill up your tank with gas every time you come to the doctor?
44:13
Does it help to know that you have a psychologist that you can work with?
44:17
Does it help to know that there's a genetic counselor if something else changes
44:21
in the family that you can talk to?
44:24
Because our genetic counselors don't just see the patients when they go through
44:29
testing, but they're available in the clinic and sometimes they'll stop in and
44:33
see a family that they've tested the previous year and just see how things are
44:37
going and see if they have any questions.
44:38
And they're also available to help the children as they get going as they get older.
44:44
Sometimes we'll see a family for several years and all of a sudden the child
44:49
will say, how come I have to keep coming to this clinic?
44:52
And that's a good question.
44:55
And so those, the questions that the children have change with time as well.
45:01
Too much stress isn't good for any of us. And that can be its own issue if it's
45:07
not dealt with, with these families going through this. Yeah, absolutely.
45:11
We know that from working clinically with these families for a long time,
45:15
we know that sometimes it's hard to just make yourself go for that appointment,
45:19
even though you know it's important.
45:20
And so we are trying to figure out what are those barriers, like Dr.
45:24
Tomlinson said, and maybe are there facilitators to get families to come in
45:29
for those surveillance appointments?
45:31
And that may be something like help with transportation or childcare for their
45:36
other children, or it may be dealing with the stress and the anxiety related to it.
45:41
I think sometimes it can actually trigger a memory of a sibling who's passed
45:46
away, especially if a sibling's been seen in the same clinic or a child all
45:53
of a sudden remembers their mother who may have passed away.
45:57
I think all of those are things that our families deal with,
46:02
And we don't always, if we're just very focused on the scan result and the blood test result,
46:10
we don't always focus on those.
46:12
But that's why we have a psychosocial team involved as well.
46:15
I know, Leanne, you see families going through the hardest time of their lives.
46:22
I think you have the hardest, best job in the world.
46:25
What would you say about that? What do you do to be able to have the strength
46:29
to be there, be present, listening with these families?
46:34
I love the way you said that. I do have the best, hardest job in the world.
46:38
I would say there's more good than bad, but it's not always an easy job.
46:43
And self-care is critical to prevent burnout so that I can continue to do the
46:49
job I want to do and support families the way I want to support them.
46:52
I also have to be mindful of the fact that even though it seems like there's
46:56
never a good time to take time off, taking time off is essential.
47:00
And so one of my favorite hobbies is traveling. traveling so I try to make sure
47:05
that I'm at least have a trip that in the planning stages is something to look
47:09
forward to and planning time away because that's how I recharge my battery personally.
47:15
And you recently went to Hawaii that was one of your favorite trips.
47:19
Yes I did I last year went to Hawaii with my husband for a couple of weeks it
47:23
was the maybe the first time I've ever taken off two weeks of PTO at the same
47:26
time which felt overwhelming.
47:28
How was that? But it was amazing And it was definitely a really nice way to
47:32
unwind and, you know, feel re-energized when I came back to work.
47:37
And driving along, there was areas that you rented a car.
47:40
Yes, rented a car and spent a week on Maui and drove the road to Hana on the
47:45
island of Maui, which was beautiful and amazing and just sort of unplugged during that time.
47:50
And I know you all, you help lift each other up through as being colleagues,
47:57
but also friends, right?
47:59
It's important. I think we all get along.
48:03
Yeah, I think it's not always easy to talk about our jobs with our friends outside of work.
48:10
And so we do rely on each other. We're sort of one big family here.
48:15
And so we sort of rely on each other for support when the times are hard,
48:20
you know, when times are hard with patients.
48:22
Leanne mentioned that when she came to San Antonio, she was interested in another
48:27
field, and then she met a teenager with cancer.
48:29
I had a similar experience. I was a little bit intrigued with cancer, just...
48:36
Before I got into the field, but I had one patient as an intern.
48:39
No, I'm sorry, a third-year medical student who had leukemia,
48:43
and I just, I loved the family, and the little girl was adorable,
48:48
but I also liked the way we gave drugs, and we watched her white count just
48:52
melt away, and that was rewarding too, but I just fell in love with the specialty,
48:58
and I think a lot of my colleagues feel the same way. We really love our specialty.
49:02
We love our patients, and yes it's hard sometimes but there are a lot of good
49:07
aspects too we see a lot of survivors go on and do well and we we try to help
49:14
families get through the the difficult spots as well.
49:20
And we don't always have the outcomes we want but you know we can assist them
49:25
along the way and so it's it's a great profession it's also come a long way
49:30
since i've been in it lots of new medicines Lots of better outcomes.
49:35
We're curing lots of diseases that maybe 20 years ago we weren't so good at curing.
49:42
So it's a very rewarding field.
49:44
And as Leanne says, there's just a lot of rewards that come along with it,
49:50
but it's not always an easy field.
49:52
But we all get along sometimes we'll sit in the
49:55
room and laugh and just you know get
49:59
around with each other and but we do
50:02
I think rely on each other we help each other out when somebody needs you know
50:07
have a personal day or something comes up needs to have some coverage we we
50:12
we all we all help try to help each other out as well and what inspires you Gail to do this work.
50:20
Each day and lead this team? Well, I like to see good outcomes,
50:27
but I also like to see all the.
50:32
Effort and the dedication that really all of our staff has.
50:36
We have not just the three of us here, you know, a genetic counselor,
50:42
psychologist, and a pediatric oncologist doing this work, but we have a whole
50:46
team of pharmacists and social workers.
50:50
And it's just on the inpatient ward, we have just lots and lots of good inpatient nurses.
50:56
And no one can do this work alone.
50:59
It's definitely a team effort. And it's a calling. It is a calling.
51:04
The genetic counseling and testing and surveillance is definitely a team effort,
51:10
but so is all of cancer care.
51:12
And it's not, we hear a lot about balance, but maybe in certain professions
51:17
like the one you all are in, there might not be a way to have total balance,
51:23
but what do you do to recharge your batteries or do you want to talk about that?
51:29
I try to get away occasionally as well.
51:32
I like to travel. I like to see family. Sometimes I just like to sit and have
51:37
a nice dinner with family, go out, visit my three adult children.
51:41
I have two grandchildren and just decompress.
51:45
After a week, whenever I'm on the inpatient service that weekend,
51:48
I just have to decompress. Yes, that's so important information.
51:54
Kirsten, I know you like to read. I do. Is that your escape?
51:58
I'm a big reader. Yeah. So I've been a reader since like middle school.
52:02
It's always been my kind of go-to escape.
52:04
You're a busy mom of a toddler. I have a two and a half year old,
52:08
so he keeps me super busy all the time.
52:10
But thankfully, he likes reading almost as much as I do.
52:14
And funny enough, one of his favorite books is about DNA.
52:19
So I'm hoping for a little...
52:21
Interesting DNA for two-year-olds. it's do you remember what it's
52:24
called or we could put a link to it in the in the chat so
52:28
the book itself is called dna and i
52:31
think it's baby biochemist or something like that if i'm not mistaken and now
52:36
i feel like an underachiever as a mom i will say i'm really big on the science
52:41
books so he's got like a whole host of like physics neurology cardiology cell
52:46
biology i just shameless plug for the science over here in his life.
52:52
But yeah, it's a good book and it is by Baby Biochemist. And that's the title, DNA?
52:58
Nice. So and then do you have any adult reads you wanted to recommend?
53:03
So I don't have any specific titles. I'm very much a fantasy type reader,
53:10
so it's not Not everybody's go-to genre of books.
53:14
Do you have an absolute favorite you want to mention?
53:18
Not currently. I don't try and choose favorite books. If it's about a vampire, you can say it.
53:22
It's not Twilight. I will say that. I've gotten over my Twilight phase.
53:27
But no, I don't have a set favorite. I go through different books all the time.
53:31
It's hard to choose one book.
53:34
Here on Pediatrics Now, we love quotes. quotes? Do any of you have a quote you
53:39
want to mention, something that inspires you?
53:42
Leanne? Well, you asked me that when we were preparing for this.
53:45
I had to look up some ideas because that was hard.
53:48
But I did find one by Steve Jobs that I really like. And it says,
53:51
the only way to do great work is to love what you do.
53:54
And I think that's true for all of us because this job is too hard.
53:58
It and not love it. That's really beautiful. I like that one too.
54:03
I'm going to third that. I think that's a great one.
54:07
Anything else you want to mention to the pediatric practitioner,
54:11
listener, anything we didn't cover?
54:13
No, I just want to say I have a huge amount of respect for the general practitioner.
54:18
I've always said when a child comes to us with cancer, our job is to get the
54:24
scans and talk to the pathologist and the surgeons, but they come to us with
54:29
a diagnosis or a tentative diagnosis.
54:31
I mean, we make the diagnosis, but they come to us with symptoms.
54:37
And it's just really hard out there in general practice.
54:41
They have to be on guard for any number of serious diseases,
54:48
knowing that most of their kids come through the door of their practice,
54:52
are going to walk out just healthy,
54:54
but a few of them probably do have something and they have to be on the lookout for something.
54:59
And I think that would be very difficult, just being trying to keep abreast
55:04
of some knowledge of almost every subspecialty and being able to realize when
55:10
something's just not quite right and when that child needs a little extra testing or evaluation.
55:18
I just think that'd be very difficult. And in that sense, our job is a lot easier
55:22
because we work on defining what the child has, but then we know what we're
55:30
dealing with, and then we deal with it.
55:32
Okay. Yeah. So I'm always available to field questions when it comes to genetic
55:36
testing, whether it be a parent or provider.
55:40
But my email is murryk1 at U-T-H-S-C-S-A dot E-D-U.
55:47
So M-U-R-R-A-Y-K-1 at.
55:51
CTL Science Center, sanantunio.edu. Majority of pediatric cancers do not run in families.
55:57
Yeah, probably not more than 10%, maybe 12%.
56:01
But we're here to support them. And the future of... You're here to support
56:05
them. If they need us, yeah.
56:06
And the future of genetic testing, do you want to say anything? I mean, what's to come?
56:12
I think there'll be more and more of it. And you already talked about somebody
56:17
who just wanted to come in and have genetic testing for anything just in case.
56:23
There may be more structured early genetic testing surveillance.
56:29
I think that's, I'm going to leave that for the next generation of clinicians as well.
56:34
I'm going to stick to my small gene panels, my known syndromes,
56:38
and trying to deal with what we know now.
56:42
No, seriously, I think, you know, technology is evolving very,
56:47
very quickly, and a lot of ethical issues,
56:51
but we are getting to the point where it will be possible to,
56:56
when somebody's born, look at 10,000 genes and try to figure out what they might
57:02
be at risk for in 20 or 30 or 40 years.
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And then do people want to know? But do you want to know?
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Do they want to know? And that if you do it at birth, then that's the parent wanting to know.
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Yes. But not the person. Those are all very ethical issues.
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We do discuss those in medical school with students and graduate school.
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We do have lectures on that. That's right.
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And some things you can deal with and some things you can use to guide your
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life and make you healthier or make your children healthier.
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And then some things you can't change. Right. Or at least not now. Right.
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Dr. Gail Tomlinson, clinical psychologist Leanne Embry, and genetic counselor
57:44
Kirsten Murray. Thank you.
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Music.