A genetic diagnosis can't define anything and it can't predict the future.
It's not a crystal ball.
Really, it can provide a framework to help with.
Farah Ajavi is a leading voice in genetics and well -being who's on a mission to help families access emerging treatments and therapies for rare genetic conditions, along with counseling and genetic testing.
She completed fellowships at Harvard Medical School and has worked at Boston Children's Hospital and Children's Hospital of Colorado.
Now I need you to take a minute and grieve not for your child because your child is here and beautiful and loved and amazing that I need you to grieve for your loss of expectation.
In the millions of phone calls we had late at night when I couldn't sleep and you always picked up your phone you told me to to grieve the life that I thought I would live.
And I think in doing that, you saved the life that I got.
And with all the doctors and everybody that you speak to, nobody gave me that advice.
Hey, so we've got something really special for you today.
And if you enjoy it, maybe even on a rotating basis moving forward.
So for a while now here at Good Life Project, we've been thinking about inviting a few just deeply wise, kind, and curious friends and collaborators, people we love, to occasionally tag in and share the hosting duties.
It's a kind of a fun and exciting way for us to continue to share new and different perspectives and ideas and questions and energy on both sides of the mic.
And not to worry, I'm not going anywhere.
We're just genuinely excited to really expand the lens of our conversations with some wonderful friends along the way.
on the mic hosting is a dear friend and someone that longtime listeners have actually heard as a guest and a conversation partner a number of times over the years, Samira Rajabi.
So Samira is a professor, award -winning author and speaker specializing in trauma and grief and digital media and meaning -making.
She's also just a dear friend and someone I turn to personally for her intelligence, her kindness and wisdom on a regular basis.
And here's the coolest thing.
Her guest today is actually her sister, Farah Rajavi, who is a leading expert on genetics and genetic testing in the world of health and medicine.
You're going to love the energy between them and the wise and joyful way that they just dive into this fascinating and fast emerging field that is becoming so important in helping us understand and reclaim agency in our well -being and our futures.
And with that, I'm turning things over to Samira and Farah.
Enjoy. They say opposites attract.
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finding a genetic diagnosis can't define anything and it can't predict the future as much as we might want to say it will predict this symptom will happen or that symptom will happen it's no guarantee of anything it's not a crystal ball and so really it can provide a framework to help with primary preventative
care and so if i diagnose somebody with a specific genetic condition And we know that 40 % of individuals with that diagnosis might have a thyroid problem.
And we don't routinely test for thyroid in the average child, but a person with this diagnosis does get testing for thyroid.
It gives us a framework for their management that just helps them have that genetic diagnosis, not be the first thing that they think about when they're thinking about themselves, not the first thing that comes to mind when people see them, but their health is being addressed with keeping that diagnosis in mind.
But it's truly the 1000th most interesting thing about that child.
It doesn't define them.
It's just a framework to help their medical providers get them the right test at the right time.
And sometimes we have those answers for people, and sometimes we don't, but we try.
It's hard to think about, you know, So when somebody gets diagnosed with something, we tend to make that thing loom really large, right?
Like you said, that's maybe the one thousandth most interesting thing about someone.
But because you've spent so many years counseling patients and families, how do you get there?
Like, how do you encourage families to get there?
How do you get there yourself to see people in that way, right?
Because I know when I get diagnosed with something, it's like that thing looms so large in my mind.
It's really challenging in the beginning.
So those first few visits where somebody first hears about a rare diagnosis that's affected themselves or their child, it can be really overwhelming.
And I just sit with people in the fact that it's going to be really overwhelming.
a physician that I worked with in the past told me that families may only remember about 10 % of a conversation, especially when you're delivering big, heavy, important news.
So I just tell them, if you remember nothing from this conversation and you want me to do this entire visit again in a week, so you could actually listen to it, I'm fine with that.
The beginning of hearing something new does mean a lot of extra checkups.
It might mean seeing another specialist, And that's hard.
I say, you know, right when you learn about this, it's a really busy time, a time where you might be seeing a lot of other individuals to try to help make sure we understand what other symptoms may or may not be present.
Some that can be subtle and not visible with symptoms.
And so we try to get all of that set up for folks.
And then it calms down.
And then, you know, I deal primarily with children before they had that diagnosis.
And after they had that diagnosis, the diagnosis was always there.
And so the things that child may have been doing that were just typical, cool kid things like playing with their play kitchen, they're going to keep doing that afterwards.
You just know about this diagnosis at the same time.
And so as life moves on, as they do those typical things that all kids do, it does become the less interesting thing about them.
Of course, it looms heavy in a parent's mind because they're always thinking about it.
The diagnosis is there whether or not we choose to do the test to find it.
And so it definitely can't define the future.
The children define their own future.
The individuals define their own future by using themselves as the best gauge of their accomplishments and things they learn.
You know, as you said, for a lot of the patients you see, you see them once they've come across something that's facilitated them or necessitated them to see you.
For our listeners who maybe don't have that experience, for a more kind of general public, why do you think genetic testing can be important?
Like, what does it do for us generally?
And then what does it do for us specifically?
So in general, I like to offer genetic testing most often when a symptom is present that may be genetic.
Because I think a lot of times people can see genetic tests in the population, like the ancestry testing that's really popular.
Or they get one test when they're pregnant with a baby and they're like, oh, well, we were tested for everything.
No, everything came back normal.
And it's just such an evolving technology.
Like, even if you have every single test that is existing right now, if you still haven't tested for everything, it's like an evolving technology.
It's an evolving knowledge sphere.
We don't even know what every gene does clinically.
We know more at a year from now than we know right now.
And so, really, it can be helpful to assess risk when you have a symptom yourself and when a family member has a symptom.
And assessing that risk can mean different things to different people.
Some people are really interested in understanding what their personal risks are because they want to take preventative measures to try to reduce that risk for themselves.
For example, if you have the gene for familial hypercholesterolemia, your medical management for high cholesterol might be a little bit more aggressive.
They might check your cholesterol levels more frequently.
They might start you on a medication earlier because they know there's a genetic risk factor on top of all the other risk factors that might exist.
to make a cholesterol level go high, that makes your level higher, and makes it harder for you to treat.
And so it kind of just helps you understand how the deck has been stacked at baseline.
So you understand what you need to do next.
So assessing risk can be really helpful for people who may have a symptom, sometimes having a reason to say like, okay, yeah, maybe I did eat that hamburger one month ago, but I can't believe it made my cholesterol level that high to actually know, well, okay, yes, I ate that hamburger, maybe I don't
need to eat hamburgers.
as often, but I also had this gene risk factor.
So it can also just give you like a sense of identity that helps you understand the things you do in the context of your genetics.
And I think that can be really helpful.
So actually having a diagnosis can be helpful for someone who has it.
Sometimes not having a diagnosis can actually be really helpful.
If you know something runs in your family and you find out that you don't have the thing that runs in your family, they can give big peace of mind you can also help your family members if you find it if you say you have an early onset cancer and you want to say gosh cancer treatment has been really
difficult and really hard and i wish we understood more preventative measures to screen for cancer could this have been helpful for other family members if you can figure out if your cancer was actually genetic in origin you can help other family members get tested for that same symptom and help prevent
them from going through a difficult treatment or a difficult course.
And then just being able to have more information about yourself can be really valuable to just say, like, this is a part of me.
It's always been a part of me.
Now I just have an ability to recognize what it is because our technology has gone far enough that we can recognize what it is.
And all of those things can be part of how it can be helpful to go through the genetic testing process.
And so in that process, you know, it can be really scary.
What is some language that we can use to kind of talk about it?
I know you've helped me and my family navigate some of the questions around our own genetics and genetic conditions we know have been passed down to us and perhaps into our children.
And you've been really gentle with the way you've talked to me and very generous.
And I just wonder if you could help us think through some of the language we might use to talk about.
Is it a condition? Is it a genetic condition?
Is it a disease? How do we think about this stuff?
So I think when you have a genetic risk factor, and then you've developed the condition related to it, it just feels like a disease at that point.
But nobody really has that.
Well, I said this before, but it's not like the crystal ball of the genetic testing will define you so nobody will be defined by their genetic change and even if it says you know this number of people with this genetic change develop this symptom it doesn't mean you yourself are going to develop that symptom
because frankly we have like 20 000 plus genes in our body and a genetic diagnosis maybe affects a few of them or one of them and sometimes we just don't really even understand how it will present symptoms and so there's this concept in genetics that we think of as something called penetrance and expressivity.
And this happens in a lot of genetic conditions.
So you can think of penetrance like a genetic symptom being there or not.
So like a light switch.
If the light switch is on, the symptom is present.
If the light switch is off, the symptom is not present.
So some things can have incomplete penetrance.
Not every symptom is present or no symptoms are present in some people.
The other side is called expressivity.
And it's almost like the number of symptoms.
It's like the dimmer switch of the light.
Are there very few symptoms or are there a ton of symptoms?
You have actually every single thing on the list of possible symptoms that can happen.
And we definitely see variable expressivity.
Now, why do we do that?
It's because you're not made up of one gene.
You're made up of 20 ,000 genes that give you strength and resilience and all sorts of other factors.
And then you're also living in an environment where you are exposed to different things that might give you strength and resilience.
And so the combination of all these things together will help understand whether or not that gene change has a significant impact on you and on a person in your family being diagnosed with that genetic condition.
And so it's really best to just not read into the book or the medical journal that's talked about that genetic condition, because your child or your family member is not going to read that book or that medical journal and say, well, I guess these are all the symptoms I'm supposed to have, so I'll have all
these symptoms. it's better to just look at the individual and understand what symptoms are they dealing with that we could maybe use the experience from that medical journal to help inform us on how to best treat it versus just kind of watching to see, does that symptom show up or not?
I remember you once described sort of these tests, right?
As if your body is a huge book, like this huge, you know, voluminous book.
This is a typo on like page 93, line 54, but the rest of the book is still intact.
And that felt so helpful to me.
But, you know, you say like, don't read the medical journal article, right?
Easier said than done.
We live in an era of Google searches.
I know every genetic test I've asked you about, I've also come to you with like 30 articles that I found about it with just that have filled me with fear, right?
So we also live in an era where we can go get a myriad of genetic tests from a number of companies that offer them rather than a doctor or specialist that we come to like you when we have a symptom.
How do you think people should use those tools or not use those tools and navigate then the plethora of information that's sort of unorganized, just out there for us?
What do we do with that?
I think it's actually really helpful for people to look things up because they have the internet.
And I think people have to just know themselves and what's helpful for them.
So for some, I'm not here to gatekeep knowledge that's on the internet.
There's a lot out there, right?
But I'm also here to be an expert on rare disease and to help families interpret that.
And so I actively encourage families that I follow to say, oh, is there anything that you read about that you think could be causing symptoms in your family that you want to take this moment to ask an expert about and sometimes I'll say okay you know I am concerned about that that's going to be part
of the testing that we're doing or you know I'm not very concerned about that and these are the reasons why because I think it's really hard to become an expert on genetics when you're reading a few articles on a specific gene and so I think we can definitely learn from families who do their own research
though because sometimes families have come to you with something.
And I was like, wow, you know, I haven't seen that before.
Let me look more into it and we'll team up together and figure out what to do.
It has to be, there's such a big knowledge space here.
So, you know, just you can't ignore all that knowledge that's there.
And so, I think that as people are navigating all that information and they feel like it's benefiting them to like feel a little bit more informed on their own, it helps them come into a visit to have done their own research beforehand.
I'm totally in favor of that because you want to be in a position to get all your questions answered during a visit and it's hard to see specialists now.
It's a big wait list for every clinic that I have and I wish they weren't so long and so I think I'm totally on board with people learning things but and it's evolving.
Even the things that I tell someone about a specific condition right now might be totally different five years from now as we learn more about that condition as more people have access to testing.
Now for the second thing you brought up on whether people you know accessing information on their own from companies you know it's really hard for me to gauge every company that's out there offering genetic testing but generally when results are returned to individuals that can impact their management
and health I do think that needs to be interpreted not by just a company but by somebody who understands genetics.
So it's really challenging to kind of understand, you know, a lot of families have come to me with testing that they've done through different companies.
And I can't always understand the analysis that's been done or how it's been done or what was or wasn't included in that test.
And I'm left wondering, you know, some families just like, well, I was tested for breast cancer risk as part of this.
But I said, well, how and which genes and did they test every part of that gene?
And will it be enough to understand the risk that you're concerned about in your family or based on family history?
And so I would say if you had a test done to try to understand your own personal risk or you want to have a test done, I'd actually recommend just speaking with a genetics professional.
And there's both genetic counselors that can meet with individuals or geneticists, which are physicians that are specialty trained in genetics.
There are lots of other positions that are very informed about genetic testing.
Like many cancer prevention physicians are very informed about genetic testing and they work hand in hand with genetic counselors as well to kind of help inform the limitations of every type of test because every single genetic test has some sort of limitation.
And my concern with a lot of those direct to consumer tests, those tests that you can order yourself on the internet is, I don't always understand what their limitations are.
And I don't want someone to think their risk is significantly reduced when they actually would benefit from screening or other interventions.
So it's really hard for me to recommend those.
But if you, some people like the novelty of being like, I am 1 % Neanderthal.
So I guess for novelty purposes, they seem fine.
It's interesting, right?
Because on one hand, this is a sort of window and gateway and key to preventative medicine.
But it seems like unless you have a reason to dip your toe into this pool, you won't necessarily have a doctor or physician that facilitates this process.
So like, let's say I'm a healthy 38 year old woman with no genetic conditions.
Now you and I both know that we I have a genetic condition, but that's fine.
We won't get into that.
But let's say I just, you know, as I'm getting older, I'm sort of feeling, you know, the pressure is, you know, you get closer to 40, you got to test for this.
And as you get closer to 50, you got to test for this.
And I just want to know, but I don't have any reason to want to know.
Do you recommend that?
What do I do with that?
Yeah. So there is a specific list of genes that have been outlined by the American College of Medical Genetics and Genomics that when families are going through really broad -based testing are kind of listed as secondary findings.
And all of these genes have some actionable impact.
So if you find a change on one of these genes, so for example, that familial hypercholesterolemia gene is on there, some of the breast cancer risk, colon cancer risks, metabolic conditions are on that list.
If you find you have a change in one of these genes, they're all genes that you would do something about it, like an early screening and early monitoring.
And it really does hopefully have this big benefit, that better health outcome for you because you found a problem earlier, you treated it earlier, better health outcomes.
That's a major benefit.
And so when families are going through really broad -based testing with us, we offer checking for these other genes and to go through the different risks and benefits.
Now, there's a couple of different places that are kind of offering that kind of secondary findings panel for healthy adults who just want to understand their risks for conditions.
The problem is who's going to order that testing?
right? There's a shortage of adult geneticists and not every primary care provider feels informed enough to order this type of genetic testing.
And so a lot of times that they're worried about, you know, cancer risk or heart disease risk, they end up getting the testing through a cancer prevention doctor or a heart doctor.
Whereas, you know, it may be that as this testing becomes more available, insurance companies find the benefit in doing the testing as well.
They actually offer this testing in a way that a primary care provider may be able to help people get access to that testing.
I think right now there's limitations in place.
We just don't have enough genetics professionals to help people understand that.
But I think increasingly it's being recognized that some people will benefit from getting this information and make a real impact to their health.
Now, beyond the benefits of this information, there are some other real risks.
For example, to have a breast cancer risk gene means getting more monitoring, more frequent imaging, maybe more biopsies that are normal that cause a lot of anxiety.
So sometimes that extra screening might have already been informed by your family history.
So getting this extra information has just created a more anxiety -provoking medical system for you to come through.
Sometimes there can be a breast cancer risk gene that someone has, but they never actually get breast cancer.
And then they've gone through all these extra screenings.
So there's some risks associated with doing this type of testing.
There can also be some unfair risks.
So insurance discrimination is possible.
So life insurance, disability insurance, long -term care insurance.
Those companies can discriminate based on having a genetic diagnosis like this, saying you're a higher risk individual.
And so insurance companies are very good at saying this risk is not going to cost the same as another person.
So we're going to charge you more or, you know, you're not going to be eligible for our policy because of your genetic diagnosis.
There is a law in place to protect health insurance and most employment.
So it's called the Genetic Information Nondiscrimination Act.
So that if you choose to learn that you have one of these risk genes, you can actually do all that screening and extra management to protect your health.
and you're not at risk of losing your health insurance or your job.
There are a few exceptions to that.
The Genetic Information Non -Discrimination Act does not extend to active duty military employment and some other very small employers.
But it is a protection in place.
It just doesn't protect every type of insurance.
So to actually have families be able to go to their primary care provider and get all of the counseling about all of the risks, all of the benefits, the insurance risks is a challenge.
And so to have every piece of this process feel informed to folks is a big hurdle to overcome in our field of genetics to give, I want to give people access to their genetic testing.
I want them to be able to seek out genetic testing and do genetic testing if they feel informed and emotionally ready to go through it.
But who are the people to help from death there.
That's the challenge.
Yeah. It seems, I mean, it seems like a lot of the, a lot of the medical system, you know, a lot of really hardworking, really good doctors, but just not enough to help us all get what we need.
And so like kind of advocating for yourself seems so important.
And we'll be right back after a word from our sponsors.
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So you talked about the counseling, right?
The walking people through and the understanding what this means for your life.
And that's something you have helped me with in my life considerably, right?
Like the reason you inspire me, like right now I'm like sitting here like, dang, my sister is so, so smart.
That's amazing. And I knew that about you, obviously, objectively, but to hear you, you speak on your expertise is incredible.
But the thing that's inspired me about you and that I think could help so many people is sort of how you both walk that path with families of sort of helping them navigate that emotional readiness, but then also how you walk that path for yourself.
Like, you have a job where you spend a lot of your time telling people maybe the hardest bit of information they may ever get.
And so I also want to understand and help people learn from how you walk through that process yourself after you've walked alongside so many of the families you work with.
I have to compartmentalize one thing, which is sometimes not easy because families will associate me with the genetic diagnosis that's being made in their family.
But I do have to compartmentalize that the test did not cause the genetic change to happen.
the genetic change was there before the test just identified it and i think one of the things that can be really hard about what i do the one is that the test can come back uncertain so sometimes we don't get a clear answer one way or another and that's because we just our knowledge doesn't isn't perfect
we don't understand every single part of genetics and so there's uncertainty about results.
So you can get uncertain results.
And then that incomplete information can be especially scary.
And then there can be a lack of treatment.
So a lot of conditions don't have treatment.
So I think when you're sitting in that space already, when you have a family member with a symptom that may be scary, to actually say that like, okay, what are the things I can do in this situation because this was always there we just have the ability to find it now well i can try to see is there anything
that helped anybody else with the same diagnosis and i do that a lot for people and i and that's something i can provide because it's really hard to go to someone to be the expert on something and they say well i don't really understand this thing that's happening because it's so rare and so that that feels
just awful that's not fair to somebody so I try to figure out what I can know.
And I'll tell them if it's rare and we don't know enough, then I have to go harass an expert on a meeting.
I was just at a genetic meeting last week to see what can we do next?
Is there a treatment that's going to come available soon?
So that's part of it.
And then I also, I think I've told you this word, these phrases before.
I've learned a lot from the people that have mentored me through this field and watching a lot of them counsel families in this situation.
And one of the most impactful counseling sessions that I watched was a geneticist who told a family that was just being amazing with their child that got a genetic diagnosis.
They were just on board.
They were joining the local support group.
They were taking their child to this meet and greet.
And they were like a baby.
They were just all on board.
and the doctor said you know you guys doing so much we're so impressed with everything you've done now i need you to take a minute and grieve not for your child because your child is here and beautiful and loved and amazing but i need you to grieve for your loss of expectations because everybody when they're
having somebody born into their family have expectations And they can be little expectations, like going to, you know, wear their first Halloween costume that looks like a pumpkin.
They can be big expectations, like playing for Major League Baseball.
And a genetic diagnosis may throw those expectations out the window.
It may not be possible.
And so families do need to take some time to actually grieve for that and realize that it is different to raise a child who may not be able to meet those expectations you had before they were born.
And that can happen.
That applies to any illness.
You know, if you get a cancer diagnosis and you are about to go on a cruise ship and you can't because you have chemotherapy, you have to grieve for those loss of expectations.
This happens across all versions of medicine.
And you can't really reorient yourself to addressing that condition without simultaneously getting through that grief process.
which feel silly right because you're like i'm grieving my cancer diagnosis like i'm about to grieve a cruise ship too yeah grieve the cruise ship grieve the not playing little league grieve all of those things because you will come out on the other side of that grief and reorient reorient yourself
to new expectations and new amazing things that your family member or yourself or your child will do, but they're going to be different than what she thought from before.
And once you find that new place where you are, it might be, you know, amazing in its own way.
It's just different.
And so it's important to kind of acknowledge that it's different.
I'm tearing up a little bit because you shared that wisdom with me.
I don't know if you know this, Pharah, but I have a brain tumor.
I'm aware. I'm aware.
Yeah, I've unfortunately forced you to be the first person to look at my MRI and made you diagnose me.
So I will always be sorry about that.
But in the millions of phone calls we had late at night when I couldn't sleep and you always picked up your phone despite being two hours ahead of me.
So it was probably one in the morning for you every time you told me to grieve the life that I thought I would live.
And I think in doing that, you saved the life that I got.
And with all the doctors and everybody that you speak to, nobody gave me that advice.
Nobody shared that, hey, losing your hearing or your balance.
I was a yoga teacher at the time.
Losing your balance is kind of a big deal.
Nobody shared that with me.
And I'm just reflecting on it because I think there's a softness to the way that you shared my diagnosis with me and, you know, talk to your patients and I've made you make my entire family your patients.
And there's a gentleness to the way that you share.
and I just wonder kind of where in you that comes from and what you tap into to get there.
I mean, it's really seeing people.
I've definitely messed up in the way I've talked to families about how things happen, genetic diagnosis, rare conditions.
I've made people burst out into tears and I've had to watch people smarter than me, learn how to do it from them.
And so I remember the doctors who said the things that were really helpful to me.
So I remember I was a medical student when I heard that grieve your loss of expectations.
It was Susan Cassidy, who probably doesn't know who I am, but she's a geneticist with expertise in a lot of rare pediatric genetic conditions.
And I was a medical student in San Francisco doing an away rotation in genetics because they didn't even offer a genetic rotation where I went to medical school.
And so I was doing this extra rotation to say, well, what is this job of genetics?
And it was towards the end of my rotation, I heard her say this to a family.
I was like, I'm definitely writing down that.
I mean, that's something I need to keep.
Because it was just, I was in the mind frame of every other provider I'd ever met before that time that was like, yeah, you're doing great.
You've learned about the diagnosis.
You feel informed. You've got the family support group.
You have everything you need.
It sounds like you guys are all hooked up.
And she was kind of I think it took the family back, too, because they're just like, what do you mean I have to do that?
And it's like very hard to make sure that they don't mistake it as grief for their child, because it's still a celebration.
It's still a huge celebration that they brought this child into the world, that they're doing amazing things, that they're making accomplishments at their own pace, whatever they may be.
So it is not the same thing.
it is just reorienting to be where you are right now and to see this present moment and not be with the expectations that you had before.
And so that was Susan Cassidy.
I remember Dr. Wen Han Tan telling a family in a session, you know, why did this happen?
He's like, you were struck by lightning.
You were struck by lightning in one of your jeans.
You know, this was chance.
This wasn't something you did or didn't do during your pregnancy.
You didn't do anything to cause this.
you're struck by lightning.
And I've seen countless other genetic doctors and genetic counselors are also amazing at giving this information to families, just help families understand that even if something genetic does run in your family, you don't choose the genes you pass on.
It's kind of random.
You pass on half and then their other parent passes on half and then together it makes offspring.
So it's a person and their partner.
And even if you carry something.
You don't choose what you pass on.
And so it's nobody's fault.
Nobody causes it. We just try to take things that I've found helpful from other people, and I try to integrate them into the next families I meet to try to continue to be helpful.
So I also don't know if you realize that I really oriented my entire career around that phrase that you said to me one night late at night.
And one of the things I've been reading and working on a lot is this concept of ambiguous loss, right?
And so that is a term coined by Pauline Boss who is a psychotherapist.
And it's kind of these losses that plunge us into that uncertainty, right?
We still have a life to live and it's a beautiful life to live.
Or if you had a child that's diagnosed with someone, you still have this beautiful, incredible, worthy, wonderful child, right?
But we don't know how to grieve those.
Like, do you have any strategies of your own or have seen patients?
If somebody goes through a death loss, we sort of have a social script, depending on where we grew up and our family and our religious beliefs and all of these different things for how we navigate that.
And we have literal rituals that can feel like comfort in those moments.
But if there's something that's a little bit more uncertain, and it's a grief that we carry alongside and with celebration and joy, how do we carry those two things?
And do you have a sense of how we might ritualize these things or what kind of steps we might take to do that?
I think community is a big part of it, but it has to be careful community.
I think in -person community is really helpful.
I think online community can be really anxiety provoking.
Sometimes I've had the occasion to diagnose a condition that's never been diagnosed in somebody else before, and that's really isolating.
and so I might try to connect a family to something similar but I can talk about everything I've learned as a physician but I'm never going to be able to offer the perspective of another parent who's been through it and how they've emerged on the other side of this information and so I try to connect
families when it's possible.
I typically tell them that sometimes these online support forums often contain the worst versions of every story.
Because like, when are you making a post online?
It's usually like in the middle of the night when you're like having an anxiety spiral about some odd symptom that's happened.
And you're like, has anybody else had this terrible thing happen?
Like, you're just like, it's totally anxiety driven.
They're like, is my left toe gonna fall off?
And I think that's amplified when you're dealing with a rare diagnosis with potential rare, freer side effects, like seizures, like cancer, like all those things.
And so I think sometimes online forums cannot be as helpful because of that.
And then there's also that comparison that's built into that, you know, I'm not doing as well as this other person with the same diagnosis, or, or, you know, I'm a lot better off than this other person, they seem like way worse, I feel better, you know, it's it kind of can breed comparison that's not very
helpful. So I don't know that I have a magic answer for everyone, but definitely I think in -person connection with other families can be really helpful just to say, you know, I've been through something similar and this is how we learned to cope with it.
And a lot of times it's amazing community of families can pass it on for generations.
I've seen some families become, you know, these within these huge family support groups and, you know, continue to pass on the things they've learned to other families to kind to help those families feel less defined by this piece of news from genetic diagnosis.
How do you cope, right?
Because you go home at the end of the day after carrying so much for so many families.
And, you know, you're a busy mom, you have two beautiful babies.
Like, how do you, what do you do?
Mostly, I just negotiate with a toddler that wants popsicles at all times.
I think I mean, when I first started in genetics, it was a lot harder.
And I started doing, you know, things like the couch to 5k running app, you know, things that got me moving to kind of help me just feel like I had a release from all the tension that's built up through the day as you're kind of delivering sometimes difficult news.
And then I did improv comedy for a while, and then life got busy.
And so I think just finding community that gets you out and about, something that gets your heart pumping, is really helpful.
But now I just negotiate with a toddler about whether 6 a .m.
is an appropriate time for popsicles or not.
So there's this world of genetic testing.
There's these companies that offer it.
there's also this, I think, really applicable and relatable conversation around grief and uncertainty, right?
That we've sort of stepped into a little bit.
How do you think anybody who's going through any kind of diagnosis that sort of plunges them into uncertainty, you know, let's say you can't find in -person community, right?
Are there questions you think people should be asking?
Are they steps that you think that they should be taking?
Like, how do you move through it?
I think really so much of this depends on how an individual person best copes with having new information about themselves.
And so much of this is completely individual.
Community is one thing.
Sometimes you just need help one -on -one.
So I often advocate for individuals to consider meeting with a therapist, a licensed therapist, try to help them understand next steps, how this information makes them feel about themselves, what things they could do next, if it's hard to do the next thing, how they can get help for that.
And I think everybody's response is individual.
And sometimes it just takes time.
I think it's not defined.
It's not like you have to move through this information.
You can be sit and be bummed out about it anytime you want to be, you know, right?
It's not, it's cut and dry what you have to do in every person.
Like some people will go through learning about all of the aspects of genetic testing and say, you know what?
Genetic testing isn't right for me.
And that is totally valid.
Genetic testing is not something that you definitely have to do.
And sometimes I will say, you know, I think it would be really helpful.
And sometimes I say, you know, I don't know if it will help right now, give you more information or this is the information it would be, but you get to decide for yourself whether or not you want to move forward with it.
And so everybody has to decide and figure out next steps based on their own ability to kind of cope with information, their own ability to understand the emotional impact of getting testing, whether it's positive, whether it's negative, or whether it's uncertain.
You know, you've been saying a lot of the things that you say.
You've been telling me about a lot of the things that I've said that have been helpful for you.
But I'll tell you one thing that you said for me that I think has been helpful was that we have these uncertain results that come back called a variant of uncertain significance.
We call them like MOUSES because we get them so often.
We need an acronym.
And I remember you having a report with a variant of uncertain significance.
And you were like yelling at me.
You were like, what do you mean you don't understand what it means?
What have you been doing studying genetics for so long?
And I was like, well, you just don't understand what it means i'm sorry i was like we're spelling the genes for hair differently they're variants but are they the same as a reference i don't know they're probably uncertain so you were like are you telling me that my genetic result is a shruggy emoji
and i don't know if you remember saying this but i sometimes will tell families that these results happen all the time even within my own family and my sister yelled at me and she said is this the shruggy emoji and it's like the thing that makes sense to people, right?
Like it's to break it down, like go through all of the aspects of testing.
You're like, okay, I can get a yes, or I can get a no, or I can get a shruggy emoji that my result is.
And so to everybody navigating genetic testing has to understand how they feel with the emotional impact of all of those different versions of results.
And if they get in that uncertain result, how they're going to cope with having incomplete information, you may or may not have a very high risk of breast cancer.
Gosh, that feels rude to tell someone.
I mean, it's just plain rude, but sometimes doctors are rude.
That's accurate. Speaking of rude, I do, on the record, would like to apologize for yelling at you, but also you're welcome for the analogy that is helpful.
We're not taught to cohere with uncertainty.
So I think that's what gets us, right, is like a shruggy emoji.
But really, when you think about it, it doesn't leave you in a place that's any different from where you started.
Like you said, that always existed and we didn't know before and we still don't really know.
Yeah. I think just people want a clean answer from a test.
Like yes, I have anemia.
No, I don't have anemia.
Not like, oh, my result is somewhere in between what's abnormal and what's normal.
And so you're like, well, why'd you make this in between reference zone?
What am I supposed to do with this?
And that's, yeah, that happens.
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One of the things I've realized by having a body that's been, you know, heavily medicalized since I was, you know, 15 or 16 years old, starting with MRIs, you know, is that there's so much more gray area than we realize based on the narratives we've sort of been culturally fed around bodies, right?
That they are really not these, you know, infallible machines that we completely understand.
They are these complex mechanisms that often have things that are intangible for us to understand.
And I think that is the thing that I've spent so many years trying to unpack and understand.
But to me, that seems like, you know, the crux of what you do is so much to sort of sit in this uncertainty and be like, yeah, I know a little bit, but in the grand scheme of what I could know, we really don't know that much.
Yeah, that happens.
And then sometimes we're like, yeah, this is exactly what's happened and this is what's caused your symptoms.
And that can feel both satisfying and scary and unfair too.
And so all of it is, all of it can be hard.
I mean, I think it's also, there is a certain comfort to getting a diagnosis.
Like you said, when I got my diagnosis, again, sorry for making you give it to me late at night over FaceTime.
But when I got it, it was this moment of all of these things that didn't make sense in my way I moved through the world suddenly makes sense.
And so, especially as women, I think we're sometimes taught a little bit to gaslight our symptoms away.
And so it did feel like this moment of like, oh, I am feeling the thing I know that I'm feeling and that I've been telling everyone I'm feeling.
It's not like that you want it to be like, I'm a sick person.
I have a disease. But I always think about this episode of Jemma, let's talk about a competing podcast.
There's an episode of This American Life that has stuck with me for a long time for an individual who had Mosaic Down Syndrome.
And this individual's mother was very thoughtful.
All families are thoughtful, but this mom was very thoughtful about how she conveyed this information to people about this diagnosis, including the school system, and chose not to disclose it.
And then, you know, many years later, this individual, I don't remember all the details of the story.
You have to go back and listen to it, but chose to tell this individual that they had mosaic down syndrome.
And they talked about, it just stuck with me because this person talked about how it was like a relief to understand that there was like a specific reason that he felt different from his peers.
And he had conveyed in that episode about how he had felt like an alien from another planet hanging out with all of these other people.
So I am also really big advocate, like sometimes families are unsure about whether they're a teenager or child should understand all the aspects of their diagnosis.
And I'm a big advocate of sharing the diagnosis and kind of like age appropriate ways as they get older so that they can grow in their understanding of it as we learn more and as they get older.
And yeah, I'm a proponent of sharing the information and every family has to come to decisions on their own.
I support families to meet them where they're at.
But I thought that story was really interesting.
And that kind of makes me think of, you know, I recently got my daughter genetically tested for some things that run on, you know, our side of the family, my partner's side of the family, and you were a very helpful guide as I walked through that.
And so I know that most families don't have a sister on the line that they can call.
But one of the questions that came up that I really hadn't anticipated, and I felt silly for not thinking of it beforehand, was this question of, like, would she want to know in the future?
And in testing her now, are you taking away some sense of her agency and then there's other you know ethical and cultural and religious questions that people might ask that I don't think we'll get into but how do you navigate that question of agency where's the line you know we ended up testing her
for one thing that was childhood onset and not testing her for another thing that's adult onset and letting her make that choice herself but how do you sort of navigate that line of when to know like when to know if you're empowering your kid or not.
Yeah. We try to follow, there's actually been like ethical guidelines passed down in genetic practice for a while.
And generally the ethos is to not test a child for an adult onset condition without having them at the age for consent, which is usually 18, or if it's a teenage onset condition, at least to the age of ascent.
So a teenager can assent to a study, even if they don't consent.
So if a teenager does not want to do a genetic study that their family member really wants to do, they're at the age of assent.
And I think it's really important to actually talk through that assent process and understand why they don't want to do it and actually help the family come to a decision that helps give that individual authority over their own genetic information that doesn't go away.
It's not like you can unlearn a genetic test result once it's there, unless it's like an uncertain result.
We're like, hey, neither here nor there is an uncertain result.
But still, so we generally don't offer genetic testing for adult onset conditions in children, with the exception of some people who get secondary findings done.
But even there, there's some controversy that says, you know, do you really want to test, you know, a baby who has hearing loss for every potential adult onset that genetic condition, right?
When they're a baby, because they have this one thing, hearing loss, you know, there's, it's a discussion with every family and every family has to come to a decision on their own.
And you do take a little bit of their ability to make that choice for themselves if you do it when they're a baby.
There've been other times where I think families have been extremely grateful for having learned about a genetic condition that runs in their family that could have been life limiting to a parent through this type of testing.
And then they could actually make an intervention that preserves their life and their ability to be apparent to their child.
So there's many sides to this coin and many aspects to consider.
But yeah, not a clear answer, but usually we wait till they're able to decide for the adult onset conditions.
So this whole conversation, I think, is for me wanting to understand, right?
Like how can this knowledge, how can our potential access to this knowledge, especially as it becomes more robust, help us kind of live a good life, right?
Like is the name of the show, right?
And I, you know, I wonder how you think, you know, practically this can facilitate wholeness, goodness.
And I don't mean like a good life in the sense of like optimize every part of yourself, hyper wellness, make yourself like, you know, live forever, but in a sense of like wholeness and, you know, loving yourself and being wholehearted, how do you think that these kind of preventative steps that can facilitate
that for people? I think that for people that aren't interested in preventative steps, I think that it is really helpful for those two sides of assessing risk and providing peace of mind, right?
Both of those things are helpful information for somebody who does want to understand preventative risk.
Because if you understand that risk is there, it might help you get through those yearly visits for screening.
You do it and you move on with your life and keep living, knowing that you've had extra screening done.
Because you know this risk lives in your family, you've seen it in other family members and now because you've been able to really identify the aspects of that risk that apply to you it helps you understand well i'm getting my test done now no test is perfect even people who don't inherit a familial
example breast cancer risk gene it's only a breast cancer for another reason so right it doesn't totally control everything but it can give you a better understanding and it can give you peace of mind and it can help inform your family members it can just lend itself to understanding for people who do
want it you know not everybody wants it but for the people who do want it i think it helps you get through what we're all trying to do in preventative health care in a little bit of an augmented way it becomes personalized it becomes not just every recommendation that goes for every other joe schmo
out there is a recommendation for you because of your history because of your own dna it's personalized it's such a beautiful thing when you say it like that because it feels like such an act of love too for family to say i got this test.
In the case of someone with cancer, I already have the cancer, but I got this test and it changed the course of my kid's life or their life in that.
So my sister, my hero, my inspiration, chief toddler negotiator, for you right now in this moment in your life, this stage of where you're at and where you carry people, what does it mean to you to live a good life?
It is to win the popsicle and negotiation every day.
You know, I think every aspect of what I understand being a position has been changed by having a family of my own.
And so right now, a good life for me is to, you know, have these moments of joy with family.
I think that's good life for me.
And I think understanding that those moments of joy come with careers that has, how you interacted with a lot of families that are in the depths of an interruption in their joy because they're trying to get further evaluations.
And so I think my own journey of having a good life and being with my family helps me understand parents and patients and navigating all that in such a more entombed and special way than I did before.
And so I think a good life is for me is just being with my family.
Yeah. Grabbing joy.
I love you. I love you too.
Hey, before you leave, if you loved this episode, say that you'll also love the conversation we had with Samira Rajabi about navigating well -being and challenging moments.
You'll find a link to Samira's episode in the show notes.
This episode of Good Life Project was produced by executive producers, Lindsay Fox, and me, Jonathan Fields.
Editing help by Troy Young, Christopher Carter crafted our theme music, and special thanks to Shelley Del Bliss for her research on this episode.
And of course, if you haven't already done so, please go ahead and follow Good Life Project in your favorite listening app or on YouTube too.
If you found this conversation interesting or valuable and inspiring, chances are you did because you're still listening here.
Do me a personal favor, a seven -second favor, share it with just one person.
I mean, if you want to share it with more, that's awesome too, but just one person even.
Then invite them to talk with you about what you've both discovered, to reconnect and explore ideas that really matter, because that's how we all come alive together.
Until next time, I'm Jonathan Fields signing off for Good Life project.
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