A Genetic Counselor’s Journey into Patient Advocacy

Finding a diagnosis for a child with a rare condition can be challenging, even when his mother is a genetic counselor. Danielle Bonadies’ son Ethan was born with a brown birthmark known as a café au lait spot. But as the spots proliferated over the next few months, his pediatrician recognized it as a potential sign of a rare genetic disorder. It wasn’t until Ethan was 2 that genetic testing led to a formal diagnosis of neurofibromatosis type 1, a genetic condition that leads the development of tumors that can affect the brain, nerves, and spinal cord. We spoke to Bonadies about caring for a child with neurofibromatosis, how her professional and private lives have been thrust together because of her son’s diagnosis, and her evolution as a patient advocate.

Daniel Levine: Danielle, thanks for joining us.

Danielle Bonadies: Thank you for having me. It’s great to be here this afternoon

Daniel Levine: We’re going to talk about your son Ethan, neurofibromatosis, and his diagnostic odyssey. Before we do that though, I thought it would be worth starting with you. You spent nearly 20 years as a genetic counselor. For listeners who may only have a vague sense of what a genetic counselor does, can you explain that?

Danielle Bonadies: Absolutely. It’s a really common question when I get asked about what I do and what a genetic counselor does. But genetic counselors have advanced training in medical genetics, and one of our main jobs is to help counsel and guide patients through the genetic testing process. We learn about whether someone might be at risk for an inherited disease and then help them determine if genetic testing is right for them, interpret that test result, and then incorporate those results back into their healthcare decisions. So, genetic counselors can really be found in lots of different areas of medicine—prenatal, pediatrics, oncology—and I’ll give you a few examples. I think that these kind of bring the role to life, but anybody considering a pregnancy might be referred to a genetic counselor to learn about whether their future child may be at risk for a genetic condition, or even if that person is already pregnant, they might be referred for testing during pregnancy or maybe based on an ultrasound finding. So, that’s a lot of people, right? Anyone who’s thinking about getting pregnant or who already is pregnant or other examples might be a seemingly healthy teenage athlete who experiences a cardiac event during intense exercise. Many of those have an underlying genetic cause, or the area that I spent most of my clinical time is actually in the oncology space. So, I saw individuals with either a personal history of cancer or a family history of cancer, and I’d help them go through the genetic testing process to learn if those cancers might be genetic or running in their families. And really in all of those situations, the goal is to provide more information to those patients so that they can make good healthcare decisions with them. And not all of those decisions are easy. Some individuals that I met with were choosing to have their breast tissue removed to reduce their risk of breast cancers. For others, it might be honing in on treatments that can help treat their condition. But really in all of these settings, our goal is to provide patients more information. And I should also say that that’s the role where patients interact with genetic counselors, but they can also be seen in all sorts of different industry settings, laboratories, research, education, industry, really across the healthcare field.

Daniel Levine: Well, how do genetic counselors work with patients? Where do they fit in within the care continuum, and does their involvement extend beyond just a diagnosis?

Danielle Bonadies: That’s a great question because genetic counselors often do see patients just for a short period of time. So it’s often during a diagnosis period or when they get referred based on something. But I truly believe that because the pace of genetics is evolving so quickly and we are learning so many things not only about genetic testing, but also about the genetic conditions that we know about, that we really need to have a system to keep in touch with patients over time and deliver those updates to them. And so, it was actually from some of the things that my colleague and I experienced in clinic of wanting to reach back out to patients to let them know about changes that had happened, that we left clinical practice to start a company called My Gene Council, which is a digital health company. And so what we do is we track and we collate, and then we deliver those updates directly to patients that are based on their genetic test result. And so it’s really from the idea that without good information, you can’t make good decisions. And so we’re putting that information into the hands of patients and clinicians so that they can make informed medical decisions.

Daniel Levine: I wanted to touch on your own background because your son Ethan was eventually diagnosed with a rare genetic condition. You were a genetic counselor before he was born. When did you first become concerned? What happened?

Danielle Bonadies: Yeah, so we actually first noticed his very first cafe au lait spot on the day that he was born. It was absolutely adorable. It was one of the unique things that we were kind of uncovering about our newborn son.

Daniel Levine: A cafe au lait spot is a birthmark.

Danielle Bonadies: That’s right. So, often it’s called a café au lait spot because it looks like a spot of poured coffee like a little spot. And so he has a few of them now, but we saw one on that first day, and I actually have one. And so it was a bonding moment for me, and lots of people in the general population have them and they just have one or two. But the next couple months flew by with this newborn baby, and by the time he was three months old, he had dozens. And so, although I am a genetic counselor, it wasn’t me who first suspected that he might have a genetic condition, it was his pediatrician. But when I heard the words “referral to genetics,” it all clicked. And I knew that she thought that he might have a condition called neurofibromatosis.

Daniel Levine: Did you make the connection to neurofibromatosis at that time? Were you doing your own background research on this?

Danielle Bonadies: It’s more just all the lights clicked, like oh, based on all of the cafe au lait spots that he has, that might be something that she’s thinking about. And so, she wanted us to go see a genetics professional, and it was one of those, “what do you mean, I am a genetics professional.” But we did make an appointment, and you would think that with my background that we might be seen in a couple weeks, but really it took two years for us to get a diagnosis. When I stop and think about that, it’s really mind blowing. I had access to knowledge, to colleagues. The path should have been a lot more straightforward. But even with that, it took two years.

Daniel Levine: Why did it take two years? What was the process of going from that first concern raised by your physician to actually getting the diagnosis?

Danielle Bonadies: So, you might think that we would just call and make an appointment and it would take a couple of weeks, but when we were finally able to see the geneticist, Ethan did have genetic testing and a full exam, but his genetic testing did not reveal anything. And so, although his clinicians were still very suspicious that he had this condition, neurofibromatosis, his genetic testing did not reveal that. And at first I was really elated. I was shocked. I really couldn’t believe maybe he didn’t have NF. And when that possibility came along, I really clung to it. And it just shows how strong denial can be when you want your child to be healthy and have a really positive looking future. But we were told really to watch and wait, and this is one of the problems in the diagnosis area for NF is that many of the features are age-related. And so, for parents like ourselves with a three month old or a two year old who just doesn’t have enough symptoms to make a true diagnosis and that many of the features may evolve over time later in childhood, this watch and wait period was really hard. It didn’t really sit well with us and it was really difficult.

Daniel Levine: Were there any other symptoms other than the birthmarks?

Danielle Bonadies: There were. So, during this watch and wait period, Ethan developed freckling in his armpits called axillary freckling. And these freckles develop in individuals who have enough in areas that are not exposed to the sun. So, you can think of armpits or the groin area, but even with this second clinical sign, it wasn’t enough for a diagnosis. And with my background and knowing that there was still this really small percent chance that he could have maybe a different genetic syndrome that didn’t come with all of the significant risks for tumors that neurofibromatosis does, I still held onto hope.

Daniel Levine: How was he ultimately diagnosed?

Danielle Bonadies: So, by the time Ethan was almost two, he had had his genome analyzed twice, and in neither analysis anything was found. So we know that genetic testing isn’t perfect and that there’s lots of nuances and that the technology is always getting better. But when we returned, when he was about two years old, still without a definitive diagnosis, we asked to have repeat genetic testing done again, but this time sent to the University of Alabama at Birmingham, which has a specialized lab that does NF testing. And when we got that result back, it showed his exact NF pathogenic variant, and that was the time for me that it became real and it was really hard. That was the day in my mind that he had a diagnosis. So we had an answer. It just really wasn’t the one that I was hoping for.

Daniel Levine: And he was diagnosed with the type 1 form of the condition?

Danielle Bonadies: That’s correct. Neurofibromatosis has two types, type 1 and type 2, and they are very different conditions. But Ethan has neurofibromatosis type 1.

Daniel Levine: And what is neurofibromatosis type 1?

Danielle Bonadies: Yeah. So, when I’m trying to simplify it the most for myself, or when I’m just talking more casually with someone, I describe it as a condition that can cause a tumor to grow on any nerve in the body. And so, these can be tumors that show up on the skin, those are called cutaneous neurofibromas, or those tumors can be deep within the nervous system called plexiform neurofibromas. And so those two things seem to cover the really two big things, but really on a more nuanced level, NF1, as I call it for short, is really a fairly common inherited condition. It happens in about one in 2,500 people. And we already talked about some of the common things that happen, like the cafe au lait spots or the light brown skin spots, the freckling in the armpits or the groin, as well as those neurofibromas that can happen either on or under the skin. But in addition to that, about 50 percent of individuals with NF1 can have learning challenges. And that’s something that we’re facing with Ethan. Now as he’s entering into school age, individuals can often have softening or curving of the bones that cause scoliosis, and occasionally there can be tumors in the central nervous system as well. There’s also a really long list of other things, but these are some of the most common. And while most of these tumors that I mentioned aren’t cancerous, there is a small chance that they can convert to become a cancerous tumor. On a personal level, NF is really complex to understand and then also to relate to others because it’s so unpredictable and it impacts everybody differently. So, some people have very minor impacts, and you might meet them as an adult and never know, and others have very major impacts that impact their every day. And it’s really not possible to know yet if your young child who’s three months old or now six years old is going to be impacted in a very severe way or in a very minor way. And sorry, just the second piece to that is that I mentioned the list of associated issues. It’s really a mile long. And so I’ve mentioned a couple of the more common ones, but there are many.

Daniel Levine: Even though it’s a very heterogeneous condition, are there predictable progressions to the condition? Are there things you need to watch out for?

Danielle Bonadies: Absolutely. Some of the things that we’ve already talked about, like these cafe au lait spots, or even the freckling, don’t really impact medical care in any way. But for young children who have NF, one of the things that we need to look out for are optic nerve tumors, the nerve that runs from the eyes back into the brain. And so, someone like Ethan has detailed eye exams every six months. And then as they progress into school age, like I mentioned with Ethan, we need to look for learning disabilities or learning differences. And then as the children continue to age, these neurofibromas either on the skin or internally can start to grow larger. We know that puberty is actually a time of significant and rapid growth of those tumors, and so that’s a time that’s a particular kind of concern and that we need to look out for those.

Daniel Levine: How has the condition affected Ethan to the point of his everyday life?

Danielle Bonadies: So, he’s a very happy and giggly six-year-old. He loves Tate’s cookies. That’s his only dessert that he’ll eat. You might think ice cream and lollipops and things like that, but he’s strictly a chocolate chip cookie guy. But on the average day, NF actually doesn’t affect him too much. In the past, he’s had some trouble with speech, and he does have a few plexiform neurofibromas. He has two brain tumors as well. And so you can imagine that we have to keep an eye on these things. And for us as a family, we decided that having MRIs was important to help monitor those tumors to know—have a baseline of—how big are they or are they growing? Right now, this isn’t part of standard care, but I believe, and this is just my personal opinion, that the recent FDA approval of a drug called selumetinib, or sometimes called Koselugo, may change the way that we monitor these tumors. So, in the past, MRIs weren’t as common because there weren’t any treatment options. They weren’t able to give medications. But now that we have one, the medical and the research community needs to answer big questions about should we be monitoring these tumors? When is it time to treat? Do we wait until that tumor causes pain or changes the curvature of someone’s spine when it doubles in size or triples? And we don’t have the answers now, but we as parents have to make the decision about tumors that we know our son has before the research community will likely have an answer to those questions.

Daniel Levine: Oh, what’s this like to live with as a parent? Do you find you need to be extra vigilant about monitoring itself? Are you on the lookout for tumors or other manifestations?

Danielle Bonadies: Always. And so, Ethan is actually one of three, and we are vigilant about all of our kids, but particularly when he mentions that something hurts, we may write it down or see if he says it again the next day. And so, there’s a little bit extra attention to those types of things that happen. I would say that as a caregiver, my biggest resource is my husband, and hopefully I am for him too. But it’s pretty anxiety-provoking to have a child that already has tumors [and] is at risk for these tumors to grow very significantly over his lifetime. We are going to have to make decisions across his lifetime about potentially this medication, which is a chemotherapy that he would take every day. And we’re really each other’s support systems. But at the same time, we’re each going through the throes of exactly the same thing in terms of the emotions related to this condition. But it’s important for us to be on the same page, and it helps to be in it together.

Daniel Levine: Having a child with a complex medical condition can feel somewhat isolating. It places additional demands on you, and people may not always be aware of understanding those demands, particularly when your child appears perfectly normal from the outside. Has this been an issue?

Danielle Bonadies: So far it hasn’t. In terms of his everyday life, I will say that any child who has any type of medical condition or even adult, it’s almost like another full-time job to manage the different specialties that he has to see and to schedule his appointments and reschedule them. And sometimes we travel for those appointments as well. And so then there’s transportation and housing related to that, so it can get quite significant. And right now he’s healthy, so when things escalate, if they ever do, that may become even more intense.

Daniel Levine: You’ve gotten involved in patient advocacy. You do work with the Children’s Tumor Foundation. For listeners not familiar with the foundation, can you explain what it is, what it does?

Danielle Bonadies: Absolutely. So when my husband Peter and I first learned of Ethan’s diagnosis, it really took us a while to digest and come out of our haze. But when we did, we knew that we wanted to do something to help end NF. And those two words I think are really critical. They’re not raise awareness for NF, they’re not research NF or treat NF. All of those pieces are, of course, critical. But the ultimate goal that really resonated with us, and it’s the ultimate vision of the Children’s Tumor Foundation, is to end NF. You see a lot of different advocacy groups out there with different missions in mind, but theirs [CTF] is really to bring together stakeholders, whether it be the patients themselves, pharma researchers, government medical professionals, to really put the pieces together and pave the way towards treatments and ultimately a cure. And so they have really amazing staff, amazing individuals who work there. They’re a powerhouse. And I’m just so thankful for all the people that came before us to help build this fantastic foundation.

Daniel Levine: And from an advocacy point of view, what do you do?

Danielle Bonadies: Yeah, so we believed that getting involved with the Children’s Tumor Foundation was important. And so when Ethan was about to turn three, we started a fundraiser to benefit the Children’s Tumor Foundation, and we mainly use social media and the network of our friends and family near and far, and we’ve done it for three years now. And the outpouring of support has just been breathtaking and astounding, and it’s not just the donations that happen, but it’s the people, our friends telling other friends, and really that chain effect that happens. It’s just incredibly heartwarming to know that all of these people care and are willing to contribute towards something that’s so close to our hearts. In terms of other things that I’ve done with the Children’s Tumor Foundation, I’ve helped plan some of their annual forums and summits. I’m involved in the registry that they have where clinicians and researchers can access that registry to do research. And then most recently I joined their patient engagement program, and that’s going to kind of be a bridge between researchers and helping bring some of the patient perspective to when they’re designing new studies or therapies. So I’m really excited about that.

Daniel Levine: I suspect when other patient advocates learn that you’re a genetic counselor, their eyes might widen. Given your background, do you find people trying to tap your expertise or are you able to leverage that scientific grounding at all for your advocacy work?

Danielle Bonadies2: I absolutely want them to. I want to combine these skills to help push the field forward. There’s no one more motivated than someone who either has or has a close family member who has a condition. And so, I’m really most excited about this upcoming work with the Patient Engagement Group with the Children’s Tumor Foundation and bringing a lot of those stakeholders together, researchers and institutions, pharma. We may work with the FDA or other patient advocacy groups, but really the goal, again, is to help accelerate the development of new treatments and really focus on pushing towards getting towards a cure.

Daniel Levine: If you go on the Children’s Tumor Foundation website, you’ll see a robust pipeline of therapies and development. What’s your hope for seeing the treatment landscape evolve here?

Danielle Bonadies: Yeah, it’s really exciting. So now that we have the first approved therapy, which happened just a short time ago, we’re anticipating that the field is really going to open. So, researchers and pharma know that we are an invested community and that we can fill clinical trials and we can help push the field forward. We’re invested with them to be part of those studies. And so there’s new treatments that are in clinical trials, which is great. There’s lots of kind of interesting things happening. The thing that I’m most passionate or interested in is this idea of gene editing where we can maybe cure a condition with a single treatment. I think we are likely many, many years away from something like that, but that would be something that would impact not only the neurofibromatosis community, but many conditions that have health impacts. And so I think that that could be really amazing.

Daniel Levine: Danielle Bonadies, genetic counselor, and NF1 advocate. Danielle, thanks so much for your time today.

Danielle Bonadies: Thank you.

This transcript has been edited for clarity and readability.