Jennifer DiRaimo

Family histories are so important because they're just an extra tool to really identify clues to see if maybe there's something hereditary in the family.

Narrator

Welcome to the PDSA podcast, Bruised but Not Broken: Living With ITP. The diagnosis of a bleeding disorder like immune thrombocytopenia may leave you wondering, how can I really live my life with ITP? PDSA's podcast, Bruised but Not Broken: Living With ITP, brings empowering stories, the latest research and treatment updates, lifestyle tips, and answers to the real life questions the ITP community is asking. Here’s your host for this episode, Barbara Pruitt.

Barbara Pruitt

Why and how did I get ITP? I'm sure that's crossed your mind many times as it has mine. Does your ITP have anything to do with genetics? Well, today's guest is Jennifer DiRaimo. She is a certified genetic counselor with the Canadian Association of Genetic Counselors. Welcome, Jenn, and thanks for joining me today.

Jennifer

Thanks for inviting me, Barb. It's great to be here.

Barbara

I want to know all about what a genetic counselor is, but first, can I ask you to kind of explain what genetics are?

Jenn

Yeah, I think that's a great place to start, because I feel like people get really overwhelmed when they hear the word genetics, and they either kind of shut down or they think it's, you know, some sci-fi kind of field. And it really is something that impacts all of us. So, by definition, genetics is the study of genes, and genetic variation, and heredity in organisms like humans. But in the simplest of terms, it's really focusing on how our genes and our unique personal traits are acquired and often passed down to the next generation. So, the way that I think of genes, is I like to think of them like a blueprint. So, imagine you're building your dream home. Your genes are the blueprint for how that home will develop. So, your genes contain really important information that allow your body to grow and develop in a specific way, according to your unique set of genes.

Barbara

Well, that's a great analogy to, you know, building a home, that makes it kind of sound a little bit easier to understand. Now, tell me a little bit about your background. How did you get interested in becoming a genetic counselor?

Jennifer

Yeah. I mean, I've always really loved genetics, even you know, when I first learned about it in junior high, you know, I was the girl in the back of the class, like doing Punnett squares on everyone as soon as I knew what genetics was. But the other piece is that, I think the reason I was really excited about learning about genetics and learning about heredity and even learning about genetic counseling in junior high was that in my family, we have a neurodegenerative disorder. And I spent my whole life growing up being afraid that I would inherit it. And luckily, I found out that I'm not at risk for it. The condition in my family is Huntington's Disease. And I'm not sure if you've ever heard of that before, but it's one of those neurodegenerative conditions that looks a lot like ALS and Parkinson's and dementia, like all rolled into one, or Alzheimer's. So, it's a pretty scary disorder. And in my family, it was just something that nobody talked about. And my personality is, you know, I really, I always have a lot of questions, and I always ask a lot of questions, and they're not always well received. So, I didn't feel like I had the support growing up. So, I really felt like when I learned about genetics and genetic counseling, that this was something that, you know, I could do because I essentially became what I needed. And in a way, I became, you know, someone who really had to learn about a genetic condition and support oneself. And I thought, you know, there is an actual profession that does this to help other people. So that's kind of how I got interested in it. And then it was a long road in terms of schooling to get there. But I completed my Bachelor of Science undergraduate degree from Trent University in biology and physical anthropology, minored in psychology and biochem. And then in my last year, because I graduated, this is dating me, but I graduated in 2001 and I had applied that year to get into a genetic counseling Master's program. And at the time in Canada, there were only three programs, and they allowed eight students each year to go into the program. So, it was really competitive, and I got waitlisted, but I didn't actually get in that first year. And so, the big kind of, I guess, feedback that I got was that I didn't have enough counseling experience. So, I took a year off, and I actually ended up working as a Research Coordinator at the University of Waterloo. And then while I was there, I did some one-on-one counseling with the Sexual Assault Center in Planned Parenthood. And then I reapplied and then got in the next year. So, I did,

Barbara

That’s good.

Jennifer

Yeah. I did two years in a Master's program at Brandeis University. And, you know, through that program, there's a lot of coursework, a lot of research, but a lot of internships too. And then I graduated in 2004. I certified with the Canadian Association of Genetic Counselors in 2007, and then recertified 10 years later because it's only good for 10 years. So, you have to keep up your skills and recertify every 10 years.

Barbara

Okay.

Jennifer

So, yeah, that's how I became a genetic counselor.

Barbara

It sounds like you went into it to answer a lot of your own personal questions, and you were able to do that, obviously. So, when you work as a Genetic Counselor, what exactly is it that you do?

Jennifer

The best way to understand that is to understand that genetic counseling is really a process, where you essentially help people understand and adapt through all of the medical, psychological, and familial implications of having a genetic disorder, or being at risk for that. So genetic counselors help you to understand what a genetic condition is, you know, what might cause it, how to test for it, what potential results may mean, what surveillance you might need. So, there's a lot that happens, but oftentimes the actual roles and responsibilities, well, the core ones are the same. It depends on what type of a clinic you work in.

Barbara

Okay. All right. And I guess it's also helpful that you, when you get a diagnosis or something that people don't misinterpret it. So you, I'm, it sounds like you would make it much clearer to them, and be able to answer questions that they might have regarding their results. Are genetic counselors regulated? I mean, I know that you are certified in in Canada, but how does that work? Because I know you can't just hang up a sign and say you're a Genetic Counselor. There's a lot that goes into it as you explained.

Jennifer

Yeah, absolutely. Well, so the short answer is that no, they're not regulated. In Canada, particularly too. So, genetic counselors in both the US and Canada are certified, as you mentioned. But the big difference is that in the US, genetic counselors are often licensed in the state that they're working in. And that licensure you know needs to, you also have to be certified through the American Board. So, there is some differences between genetic counselors in the states and in Canada. I wouldn't say that it's regulated, but I would say that in the US, you know, there are some Genetic Counselors that are licensed. There are also some that aren't, and they just have certification. And that's usually enough in an academic setting, which is where most counselors work. And the certification process is very similar in Canada and the US, so they're recognized in both places. It's just that for the purpose of getting licensed, you have to have your American certification.

Barbara

Well, when we say genetic counselor, the other word that comes to mind is geneticist. So, I'm assuming the Geneticist is the actual MD. And okay, so, how is it that you, I'm assuming you work together. And how does that usually play out?

Jennifer

Yeah, I'm so glad you asked about that. Because I feel like, you know, a lot of times people assume that I'm a geneticist, because they don't understand the difference. And I think it's a really important one, especially in terms of expectations. A geneticist is a medical doctor. So, they go to medical school. They do residency in genetics. And so, their primary role when they're seeing a patient is to diagnose. So, if someone comes in with multiple symptoms, they're the ones that are going to try to find a diagnosis. Anything that requires an examination, that's going to go to a geneticist. Oftentimes, genetic counselors and geneticists will work together, but it really depends on the clinic. In a lot of the pediatric clinics, they tend to work together. Most clinics though, genetic counselors have a lot of autonomy. And so, while our role as a genetic counselor is not to make a diagnosis, often genetic counselors work under delegated medical functions. So, for example, like, there's a legal document that will outline, you know, what tests you can order, and what results you can give. And sometimes just by giving a result, you're giving a diagnosis. So even though our role is not to diagnose, sometimes that does happen, but we work under delegated medical functions so that we're sticking within what we're allowed to do. But traditionally the main difference is that, you know, geneticists are doctors and they're the ones that diagnose

Barbara

Right.

Jennifer

And do physical exams.

Barbara

And then you get that information and help the family, or the patient understand that diagnosis.

Jennifer

In a case where a physician, like where a geneticist and genetic counselor are working together, they will, like in a pediatric setting, a genetic counselor will go in and kind of assist recording, you know, various measurements, like head circumference, length, weight. And then once a geneticist kind of comes up with an idea, perhaps of what that child may have, then the genetic counselor will help fill out forms for testing. We'll talk to the family about, you know, do they want to pursue this? What is involved? You know, what the results could mean. They always take a detailed family history. And I know we'll talk about that in this episode as well, but there are a lot of things that the genetic counselor will do. And oftentimes, in certain situations, the geneticist will be in the room while the genetic counselor is counseling, but that's not always the case. It really depends on the clinic and what specialty you're talking about.

Barbara

Right. Well, you mentioned the family history and I know that that is something that is so important. I have done a family history for myself and found that it's really interesting because, I mean, I'm assuming it's the same for you, but what you're looking for is what people died from in your family history, but also any other medical conditions that they had. It's not just what they, was on the death certificate. I mean, if, yeah, you have to kind of dig a little deeper because maybe Aunt Sally had a heart attack and then it said she had a heart attack, but she also had MS, or something else, you know. That would be really valuable and important information to have. So how do you talk to the patient to put a family history together? What is the most important things that need to be included in that? And how far back do they need to go?

Jennifer

That's a great question. Yeah, I mean, family histories are so important because they're just you know an extra tool to use to really identify clues you know, to see if maybe there's something hereditary in the family. So, in terms of taking a family history, again, it would depend on, you know, why you're seeing a genetic counselor. There's certainly lots of different things that can come about in a family. So usually when someone is referred, you know, they would be sent to a questionnaire to fill out ahead of time that would really kind of ask targeted questions concerning their referral to try to get a lot of that information upfront. And in a setting that, I used to work in a cancer setting primarily. And so, we would oftentimes even request things like pathology reports before we even saw the patient. And so, the family history, you know, you usually have a lot of information before you see a patient, but you want to make sure that you're getting a three-generation family history. So not just asking about parents and siblings, but what about aunts, uncles, cousins, grandparents, and also asking about where people are from because sometimes your ethnic background can also give a clue about, you know, other risk factors that you may have. So, it depends on the indication of why you're being seen in a genetics clinic. But you know for our patient population, like individuals with ITP or other platelet disorders, you know, for when you're collecting a family history, it's really important because then you can notice patterns among relatives. Like you can ask about, you know, does anyone have any blood cancers? Does anybody have thrombocytopenia or frequent infections? Does anybody have a lot of nosebleeds or easy bruising? And so, by asking kind of targeted questions like that, you can really determine if there is something more than just, let's say, ITP running in the family.

Barbara

And I know that one question that comes to mind is, you know, maybe somebody said, oh, yeah, uncle so-and-so was a bleeder. Well, you know, they didn't have a lot of the terminology when we go way back. And so that might be something really important to have. You know, so-and-so was a bleeder. You know, in quotation marks, we don't really know what that means, but it might give you a little bit of a clue. When thinking about a family history also, it's good to have, not just for yourself or your child if they are diagnosed with ITP, but it would be good for the rest of your family to have in case in the future something was to show up, you would have that information to share with them and it could really be helpful.

Jennifer

Yeah. And I mean, I want to say too, because I know many of our listeners will have ITP and you know, the grand majority are going to be properly diagnosed with ITP. They're not going to have another underlying platelet disorder or another underlying cause for their low platelet count. But sometimes, especially in adults, we know that one in seven, or 15% may experience a misdiagnosis. And while I've never seen that type of a stat for children, you know, I often wonder if it might be slightly higher. But even if we go with 15%, that means the majority of people with ITP truly have ITP and are not going to need to worry about, you know, thinking about genetics and heredity. But because of the fact that there can be misdiagnoses, it's always a good idea to look at your family history and ask questions just to see if maybe there's something that needs addressing. And it can be really hard to do that because some family members, maybe you're not close with everybody. And, you know, maybe certain people don't want to talk about or share that information. So it can be really hard to do that.

Barbara

Well, I think with taking or creating the family history, you might be able to find a link that you would question. Does this mean anything when it comes to my ITP? And then maybe take that to your doctor, your hematologist. And you know if he feels that there's an indication for further testing, I'm sure that's something that you would talk about.

Jennifer

I think even before, even thinking about a family history, you know one of the things that I would encourage our listeners to do would be, you know, to spend some time on our website. So, we have two sections that I want to draw everyone's attention to. So, one of them, and they're both under the patient and caregivers tab. So one of them is the “ITP and Genetics” page, and the other one is the “When it's Not ITP”. So, sometimes when you're wondering, you know, is my low platelet count driven by something else? If you visit those websites, there's a list that we've developed with some of our medical professionals that we have put together that kind of go through, you know what are the red flags that you should be thinking about if you're worried that maybe your ITP might be due to something hereditary. And the other camp is like, maybe[GU1]  it might be due to more of an inborn error of immunity. So, there are lots of different things to ask yourself and to, you know, I think that some of the red flags when providers think about maybe this is, there's something more to this than just ITP would be if the person who has ITP has an enlarged liver or spleen. Are there other blood counts that are off? Like maybe they have a low white cell count or a low red cell count as well. Are they resistant to standard therapies? Are their platelets different in size? So, are they abnormally large? Are they really small? You know, are they bleeding out of proportion for the platelet count that they have? Like for example, if your platelet count is 76,000 and you're having a lot of bleeding, that would not truly be expected with a platelet count at 76,000. You know, have you had a low platelet count since birth? There's lots of different things that you can first ask yourself and think about. And then if you have any of those red flags, then that's a time when you can talk to your doctor and say like, maybe genetics is something I can, I should consider, or maybe we together should think about, you know, exploring additional testing. We just had actually a Regional Meeting up in Canada, and Dr. Kristin Hunt had done a talk for us on inborn errors of immunity. And she also pointed out some red flags to think about, you know, again, recurrent infections, particularly bacterial infections, often requiring antibiotics, family members that have multiple autoimmune conditions. So, these are all red flags to keep in mind. It doesn't mean that what you, that your diagnosis of ITP is incorrect. But these are just kind of launching pads to have that discussion with your doctor to see, you know, should I be concerned that my ITP may be more than just ITP?

Barbara

Okay. Well, Jenn, when you've referred to look at these pages, let me explain. Not only is Jenn a Genetic Counselor, but the Platelet Disorder Support Association is fortunate enough to have her on staff. And she is considered the Director of Research and Canadian Advocacy. And a lot of the articles that you see published that come in our newsletter are written by Jenn. Because of her medical background, she's able to understand it and put it into words that we all can understand. And we really appreciate that. So, tell me once more, what are those two specific pages that people should look at if they're concerned about all this.

Jennifer

Yeah, or even just wondering about it, I would say under the Patient and Caregivers tab, which you can find on the main webpage, scroll down to there's a tab called “When it's Not ITP”, and that talks about secondary causes of ITP. And then there's a tab called “ITP and Genetics”, and that really focuses on inherited platelet disorders.

Barbara

Well, that's great news and great that you explained where to go because I'm sure that's going to be looked up after this podcast, after people listen to this podcast. But that's what we're here for. We're here to share information. We're here to help. And we hope that what we present to you will help you in your journey with ITP. Jenn, I want to thank you for being here today and I want to also say that we will have a follow-up episode and during that episode we will have Jenn again be one of our guests as well as Hannah Helber, and she is also a Genetic Counselor, and she works at Texas Children's Hospital, and she works with patients that have inherited blood disorders. So, she's really in the mix when it comes to inherited blood disorders. So, she will also be sharing with us some examples of patients that she's had in the past. And I think it'll be a very interesting podcast for all of you to hear about. So, I want to thank you again, Jenn, for joining us. And it's been a pleasure to talk to you. All this information is very valuable.

Narrator

How do you live your life with a bleeding disorder like ITP? From working in the kitchen with knives, to navigating sharp corners in your house, going out to eat in a restaurant, traveling on a plane, attending a sporting event, even dancing at a wedding. ITP patient, Barbara Pruitt, shares her tips and tricks for moving through life with ITP for more than 60 years. Here's her lifestyle lesson for the day.

Barbara

You know what vasodilation is? Vasodilation is when your blood vessels actually dilate. They relax and dilate. They become a little larger than their normal size. When they're in that state, they can be more apt to leak blood, which is something that we need to be concerned about as an ITP patient. How does that apply to our everyday life? Well, when you think about it, if you apply heat to your body, heat causes vasodilation, whereas cold makes vasoconstriction, making the blood vessels a bit smaller. So, applying heat to your body in general is not a great idea. I'm not saying, occasionally it's okay if you have an injury and you need put heat on it or something like that. But you need to think about going in a hot tub or going in a sauna because that is exposing your whole body to some heat that could be the cause of a little bit of leaking, you could come out of that with having petechiae. I know myself, I don't like hot water and I don't like to take real hot showers, whereas some people really love to do that. And it also, you know realistically, it depends on what your platelet count is and how you respond to the number of whatever your platelet count is. I know myself, I've even been outside on the boat for the day, even though I had sunscreen on, I came in at the end of the day with petechiae on my arms, on the tops of my legs, because the sun was hot enough that I was having some vasodilation. And it certainly made sense when I stopped and thought about it. So that's my lifestyle lesson for the day. Be careful out there.

Narrator

Thanks for listening to the PDSA podcast, Bruised but Not Broken, Living With ITP. Made possible by our presenting sponsor, Amgen. Special thanks to Gus Mayorga for composing our theme music. To see what's coming up, visit our website at pdsa.org and subscribe wherever you get your podcasts. Please share this podcast through social media with anyone who you think might benefit from the information and stories we share with the ITP and other platelet disorders community. As always, please speak with a health care professional before making any treatment decisions. But know that pdsa.org is a wealth of information and resources to help you navigate life with ITP and other platelet disorders. Remember, you are not alone.