Pooja: Hello listeners, welcome to LetsTalkAboutNF, the podcast that facilitates discussion around the topics that affect the NF community. Through this series, we hope to convene patients, caregivers, and clinicians to dive into the social and clinical aspects of NF - whether that’s walking through how multiple individuals deal with a similar issue or breaking down recent clinical trials into accessible and engaging discussions.

I am your host, Pooja Nair, and today we meet with Dr. Rory Moore, an instructor at the University of California, Riverside and a mother to two children, with the youngest having a spontaneous mutation of neurofibromatosis type 1.  

Pooja: Starting off, in what ways would you say that you've advocated for your child and so this could be like a story, or just any examples that you have about advocating for your child in the medical space.  

Moore: Yeah, absolutely. I want to provide hopefully three brief examples, and the first is the diagnosis itself or the first record, the first time that we were told that there might be something, something to watch for with Henry. And, we, our pediatrician The OB GYN when Henry was born had not spotted all of the café au lait’s across his body. I do recall that my mother in law said “Oh look at all these Birthmarks” and I noticed them too, but we just thought that they were birthmarks. We had the good luck of changing pediatricians when we moved across country and at Henry's six-month exam. She just started saying, “Oh, look at these” and she started counting them. My husband and I were confused about why she would count them, just as I. “Oh it's, you know, I'm just kind of noting something it might, it might be related to something more serious but nothing to worry about now.”

And, of course, we get home and immediately get on the internet and start searching like most parents I think would when you hear that it might be something serious. And we see that, oh the criteria for having a particular disorder and NF1 or possibly Legius syndrome is to have six café au laits or more. And so, we sat there and counted more than six café au laits on Henry's body that she had missed a few. The pediatrician had missed a few and we immediately knew. We were in New York City at the time, so we immediately walked a few blocks back to our pediatrician’s office, had her recount them, and then, from there, scheduled with a dermatologist, and also who confirmed the cafe's, and then moved on to the neurologist who was associated with the NYU NF clinic. So that's one story, a really early story, advocating for Henry's health, right.

You hear that your child is possibly a candidate for a disorder you had no idea about. And It's a real big shock. And rather than just take the wait and see it, trust our doctor that it's probably nothing, we went forward and made sure he, he got the early notice that we felt that was important once we understood what café au laits were.  

Pooja: And did you feel that that was well received when you brought up feedback like that.  

Moore: Oh, absolutely. We got very lucky to have a pediatrician who had a day in medical school where they reviewed enough, and so she received our feedback really well. And we also didn't come storming in demanding things, we were polite about it as well, you know. it's so important to have a great relationship with the doctors who end up being a part of your child's care team. And so, being both polite and assertive can take you really far in that way.

I would say briefly another story related to that was that the neurologist, we ended up going to, who was a great neurologist, nothing bad to say about him, at Henry's post, you know, we had seen our pediatrician in December, and saw the ophthalmologist in December because best care practices are to start. If you think there's a case of NF, you start tracking for OPG's optic pathway gliomas. And so we had, you know, all these appointments right up front, when we had that initial concern for a diagnosis.

And so, we had six months later, just a follow up, and we asked our neurologist at that point, you know, what are you thinking about Henry, do you think he has NF1, and he said, “No, you know, I've seen a lot of kids with NF1, and he certainly, in my view, he doesn't have it.” We also brought up that he wasn't walking yet and not really responding to his name, and so we asked, well, should we contact the, you know, first 5 early childhood development, you know, office that most states have, and he said, “Yeah you could or you could just wait.” And we decided we would do that. So, always being proactive, because we, you know, we learned that he had global delays, and at that, that evaluation with the city we also learned that our son has hearing impairment, unrelated to NF1 but still a serious condition that was overlooked for 15 months. So that was something that needed to be done.

So, after that, you know, a month later, I noticed something wrong with his eye, and I had researched the criteria for NF1 and what to watch for. And his right eye was not tracking with his left. And so, I said to my husband that we should, we should get him in with the ophthalmologist before December, which would have been six months out, and we did, and she saw the optic nerve thinning and so I immediately after that appointment called the neurologist, and said, “Hey, we would like an MRI for Henry. He has optic nerve thinning. Here is the report.” And they immediately got him in for an MRI, which they did indeed see optic pathway glioma, not just behind the eye but into the chiasm and into the hypothalamus. And so, we tracked it for three months, it continued to grow, and then he started chemotherapy, two days before Christmas, and 2015, and he was born in April of 2014, and that resulted in him being on chemotherapy for three years straight. I tried three different protocols. And finally, maybe one worked or maybe it just stopped growing at that point.

So, I really do feel like being vigilant and proactive and not just trusting in the instincts of your child's medical providers is important. I value doctors, I respect them, I come from a medical family, and I also know that they are human, right? And you, you know your child best you're around them every day and so understanding what seems to be different or changing is something that can help doctors to, to make the decisions that are most helpful for your child, and oftentimes they value that that input.  

Pooja: Yeah, no, that's amazing advice right because being able to see your child day in day out is probably, almost like a type of data that the doctors could never have in a sense at that length. So yeah, that's a really great suggestion.  

Moore: Yeah no, the last thing I would say is that when we moved again across country to seek more support from our family once, once we realized we couldn't we, we couldn't uphold the jobs we had, and be full time parents of a medical child at that point, and we both are full time or, you know, fully employed over here but have more support now, you know, we got an introduction to a top NF clinic in California, and we, instead of being seen by the physician that our clinic referred us to in New York, we were seen by a fellow, and when we reached out to our NYU physician Dr. Allen, he was appalled that they would give us such a serious case to a fellow without having the main physician in the room. And so, our and NYU neuro-oncologist actually put in an email to the other clinics’ physician and things changed. And we are seen by, you know, the top physician there not a fellow, not a nurse practitioner.  

Pooja: Yeah, that's amazing. What advice you have for other parents or other patients that are advocating, you know, for themselves or for their child in a medical setting.

Moore: I would say to be prepared for every appointment you're going into. If you notice that, for instance, if you notice something about your body, or the ways that you typically maybe do something and now you're, you're not being able to capably do them in the same ways. Keep a journal about that and make an appointment, you know, Henry at three years old started rubbing the bottoms of his feet like massaging his feet, throughout the day and, and it's not typical for a three-year-old to be, you know, unprovoked, massaging his feet. So, you know, we noticed that we took notes and then we, you know, made sure to hook up with an orthopedist, his NF clinic. And so, I would say take notes, be vigilant, right? Things can change at any point with NF, but also try to change how you think about living with NF. And what I mean by that is that you really need to maybe modify expectations, children with NF, I'm sure you know people living with, with NF can I agree with this, they have their own developmental timeline, and, and they, they often are super bright, you know, super capable, my child, rides a bike because we put in tons of hours, you know, making sure we can you know those sorts of things you want to, not just feel like the worst case scenario is the one that you're going to live with.

And if it is the worst case scenario you want to ask your doctor questions and even seek second opinions and know that it is okay as a patient or a parent of a person with NF. It is okay to say to your doctor, “Are there other treatment options” or “I'm not sure you're understanding what I am sharing with you”, or even, “You're saying something I don't understand. Can you explain it in a different way?” Right? So those are all ways I think that might be helpful for people to take note of as they're learning to advocate for themselves or their children.  

Pooja: So, there are definitely many people who are almost like intimidated by like the medical setting or doctors or maybe you feel uncomfortable bringing that up, or just, you know like making comments when they hear something from the doctor. Do you have any advice for people who might be like more than nervous side?  

Moore: A couple of bits of advice I would say would be doctors are humans. Just like when you go to school, I'm a, I'm an instructor, just like when you go to school there is an expected relationship between a student and a teacher, as a teacher is the person of authority. In a medical setting, surely the medical provider is a person of authority they have the training and the years put in and the degrees, but that doesn't mean they can't make mistakes, and that doesn't mean that you have, you connect with them in a way that makes you comfortable. So, if you are intimidated by a practitioner, one thing would be to see if there is another person in the NF universe that has the same specialty that you could trial to see if that particular provider would be a better fit for you. Right?

Another thing would be to bring along a person you trust and who you find strength from. I certainly had a recent situation where, you know I'm not typically intimidated by by doctors or of a medical setting, and I, I was intimidated by a particular doctor that I was seeing for a health concern. And I ended up bringing along my sister-in-law for an important appointment with him and having her there helped me to stand up for myself in a way that I typically don't have to stand up for myself. It just gave me the internal strength to know that it wasn’t me. It was him.  

Pooja: Yeah, no those were really amazing points and I think, brings someone along and especially like finding a doctor that you're really comfortable with, especially because NF is something that you know has a very long duration right.  

Moore: It’s for life. Yeah.  

Pooja: Finding someone that you can just like regularly meet with and feel comfortable having discourse with is super important. Yeah.  

Moore: Yeah, there were some of Henry's practitioners. Particularly one of his oncologists and I say oncologist because we actually see two, again, because he has some serious side effects or manifestations of NF1, so I often seek a second opinion every time he gets his MRIs. He’s had more than 20 MRI in seven years. And, one, one of his oncologist I know we would be very good friends outside of the medical setting but I have to reserve, like my desire to say, “Hey, can we meet up for coffee” or whatever, because of, you know the relationship between a client or a patient and a provider.

But yeah, you want, you know that your child or yourself, NF is for life, and it can take a direction that you have no idea about. So, you want to be secure in knowing that your provider is someone that seems to care about you or your child, and has the background, and the continuing education that you would want out of a provider to make sure that you get the best quality of care. You can even like for children, you know, Henry's pediatric pediatrician is, we see her there, you know, just once or twice a year, for, for minor concerns so she's not an active member of his medical team. But when we were interviewing pediatricians we did ask if they had other patients with an NF or NF1, and she was one who had seen other patients, and so of course we're like great, we're going to stick with you, and she's great. So asking those questions as well upfront, you can doctor shop.  

Pooja: And actually, as you were talking about, you know, kind of advocating in the clinical setting. I think it definitely requires knowing a certain amount about NF in order to then ask questions right to build the vocabulary that you need. And so, how did you go about kind of learning about NF because I think you mentioned that you said you didn't initially know what it was.  

Moore: Yeah, I did the terrible, Well, terrible and also perfect thing of immediately googling NF and of course, everybody would say, Don't Google, NF1, right, because images and stories that often pop up on Google first, are those that can be really scary because their worst case, oftentimes, like some of the most serious cases of NF. But the key resources for me, or I have two key resources is Children's Tumor Foundation on ctf.org. Ctf.org actually has a list of all the NF clinics that they have partnered with as kind of a certification that yes they meet these quality standards that allow them to be listed on the Children's Tumor Foundation site, so there's some trust in that right and then they list other physicians that maybe aren't in an NF clinic but are connected or have some specialty that could be helpful.

CTF also has brochures about understanding NF, and for a caregiver or a child or teens or for educators. They created a whole bunch of material that you can download, print, keep for yourself, or even bring into an IEP or 504 meeting for your child and give to teachers so that they understand that if it's the case that your child may seem a little bit different, developmentally, and that they treat them accordingly so that they're respected as well. So, Children's Tumor Foundation.

The other resource that I found was on Facebook, and I know that Facebook has support groups all over, and I found several NF support groups, and I kind of quality check them in for me the one that made the biggest impact is NF Moms Rock, it's kind of a funny name. And it's not just for moms, it's for any person who is living with NF or has a child with NF, and it has its many thousands strong. It's a very active support community. It has some parents who work in medical settings, medical research settings, or like the Children's Tumor Foundation, who also have children with NF. And there are sometimes, links to, you know, live video Q&A’s with professionals, and it’s just that you can ask any question, and in there you start to see patterns of what children and people living with NF experience and so it gives you a greater understanding, but also it gives you some again that vigilance that is so important to make sure that you're getting the care as soon as you can your child for any symptom or manifestation NF might come up with, with NF that might come up with your child.

So, Children's Tumor Foundation was super helpful for me, it still is. It helps me feel empowered because I, you know, I've done fundraising in the past with them, I still want to fundraise for them but I've taken a break for a little bit because COVID and and donate to them but also being involved in some of their projects on some of their data usage committees, so there are opportunities to feel empowered, even though you don't have any power over that condition. And then NF Moms Rock on Facebook has a great space.  

Pooja: I've actually been able to look at both of those as well and they are really like amazing resources. I think what I'll do is link them under this episode.  

Moore: Oh, that would be great. I think people would love that.  

Pooja: But yeah, I think that's it for questions. Thank you so much for taking the time to talk to us. I really, really appreciate it.  

Moore: Thank you for having me. And I hope your podcast series, you know, is a success here. So, I will talk to you another time. Bye-bye.  

Pooja: Thank you so much.