NF1-PN Care

Real Patient Living with NF1-PN

Helpful NF1-PN resources

It’s a scary transition—taking your health into your own hands rather than your caregivers handling it for you.

– Lindsey, living with NF1-PN

Resources for you

The information and materials below have been provided to help you facilitate the transition of care for patients with neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN) and to help them navigate the complexities of their condition.

Videos

Returning to care due to severe symptoms

Follow the case study of a patient who had no regular multidisciplinary care and developed inoperable complications.

This is a patient with an NF1-PN that was lost to follow-up. So, this is a patient that came to my clinic at around the age of 40, really after he has become symptomatic and faced with an inoperable condition. The patient has NF1, has actually quite a big family history of NF1, and also has known PN. But he was doing well; he was followed as a child by geneticists and neurologists, but as he grows up he no longer follow with those physicians and really wasn’t seeing any physician who has knowledge in NF1.
 
He was asymptomatic; he really didn’t think that he needed specialist care. And it wasn’t until he was around 40 years of age that he started having more pain in his right hand. And this is kind of something that he noticed over several months, actually. He started having more and more pain and then started having some sensory loss in the right hand and actually noticing over several months that he would start dropping things as he was picking them up with his right hand because he’s right-handed.
 
And he finally kind of reached back to his original geneticist, and so they actually recommended that, he should come and see us over at UCLA. But even with that, it took the patient a little time to make the appointments because if you know anything about southern California, there’s actually a lot of traffic. And the patient technically live in Los Angeles but quite far from where my hospital actually is, so he was a little reluctant to come out. He actually spent quite a bit of time with my coordinator explaining all of his symptoms and his reason to come out.
 
And then we realized he was having right-sided weakness. So we said, “Actually, you should be seen urgently; let’s get you into clinic as soon as possible.” And so, we brought him in, did a workup on the patient, a neurologic exam. He did have some mild to moderate weakness on the right side.
 
We obtained an MRI of his arm. And you can see, the postcontrast T1 image that’s on the screen right here shows an enhancing mass kind of over the right arm area. And we also did some EMG and nerve conduction study to really indicate that the weakness is associated with this mass. The way we have it in our clinic is we have both an NF tumor board as well as joint appointment between me and neurosurgery.
 
And with neurosurgical consultation, our neurosurgeon did not think that they could completely remove this mass without causing the patient a lot of morbidity. And the patient was also very reluctant to have any trial as surgery. They wanted to have other alternative management first, even though the mass is inoperable. So he pretty much is managed medically at this point.
 
And despite taking a little bit of time to get to see us and being seen in the adult NF1 clinic, the patient is actually, is relieved that he is being seen by a specialist at this point, even though we told him that “your mass is going to be inoperable.” He actually has referred a lot of his other family members. One of his parents, as well as several siblings, also have NF1 manifestation. So, I’m now in the care of half his family.
 
So, as this case kind of highlights, that it’s very beneficial for patients to have regular coordinated care and multidisciplinary NF1 care. Because, you know, part of it is, I think, I hope that if I saw this patient earlier or have been following this patient through his lifetime when he was still asymptomatic, you know, we could have helped him a little bit more and prevent the symptom that came on and the weakness that the patient has at this point. So, you know, I think this kind of highlight, I think, a very common theme among adult patients that come to our clinic where they may not have been following with pediatric clinic for a while.
 
And I know Tena, for instance, even when you have trouble transitioning a patient to adult clinic, you usually hang on to the patient. I know Tena does that, but, you know, a lot of doctors don’t. And do you think you can think of a few things, of a reason why these patients get lost to follow-up like this?
 
– Yeah, well there, there are many reasons and again we’ll kind of highlight some of those. But, you know, certainly, just the, the…
 
It depends on what the handoff is from the pediatric clinic or sometimes their primary care doctor or their geneticist in the community. What is that handoff? Is that dependent on, you know, the center itself, and who is there supporting the family? Is it a social worker, an NF clinic coordinator?
 
Or is this burden on the patient and/or their family? If it’s just on the patient and their family, you may really, you know, without these auxiliary services, you may really just, you know, they just kind of, like, go poof, and they don’t resurface until they really have a medical problem. And obviously, you know, we would all want our patients to know about these sort of complications well in advance. Can you just say a little bit about what, what it will mean to retain him in your clinic?
 
Like, how hard is that going to be now that he’s kind of connected? Is he going to just sort of, like, disappear again, or do you think that this is going to be…
 
I mean, he’s only 40, so, you know, he’s got a long time. So, is this going to be a lasting relationship?
 
– I think so. Actually, he was very help, happy to see us and became very proactive. I mean, he pretty much now has a list of things that he wants done. He felt that he finally talked to a physician that knew him as a whole and understood where he’s coming from, why he has pain as well as weakness, and also think about the rest of his complications too.
 
And I think that’s another common theme that I have from our patients is that a lot of time, if they’ve been lost to follow-up and they just see a family physician, they may just take care of the one issue, which is pain, for instance, and then just manage their pain but really not think of them as a whole. And so now that the patient has this, you know, he feels like he was able to just talk to us for quite a bit and have a dialogue about his disease. Also, you know, we’ve tried to…
 
At least, we’ve been able to do this over the last few years, and I hope we won’t have to change in the future, is, you know, the advent of telemedicine really has helped with these patients. I usually try to see them once in a while; especially if I need to do a neurological exam, I do bring them into the clinic. But once they’ve kind of gone through a follow-up and have, you know, we’ve made a plan of what to do, you know, I can see a lot of them by videos, so that helps these patients a lot. And when they hear that too, they’re like, “Okay, I’ll make…
 
I definitely will follow up with you by video in a month.” Yeah.
 
– And can you say a little bit about the role of the clinic coordinator in sort of retaining patients and how, the important role that they play in, you know, sort of maintaining the medical care that patients need, the multidisciplinary care.
 
– So I brought that up a little bit because originally when this patient….
 
I actually was connect—, contacted by the patient geneticist, who asked me to see the patient and also to set up with surgery to see if this mass was operable. And the patient, like I said, was kind of reluctant to come and see us because he’s like, you’re so far away, you know, I have to do all these logistics. So, I actually had my coordinator just talk to him, really went over the symptoms, really explained, look, you’re having new symptoms, things are progressing, I think you need to be seen right away. So I think without my coordinator, it may have taken him even more months before he came to see us.
 
And then, you know, having someone who he can call in between, especially since we started medical management. You know, if there’s somebody there that he can call if he has symptoms or something has changed before he has that next appointment with me, I think it really makes a difference for these patients, yeah.
 
– And Leia and I have both been very, very lucky that we have very strong clinic coordinators who both now are quite experienced and, really, when patients are transitioning, do a nice, warm handoff, and if there are any issues, they can follow up on both sides, which has been great and really has helped, helped kind of, with the handoff.

Adult patient who failed to transition to adult care

Review a real patient case that highlights the importance of continuity of care in managing disease progression.

This is an adult with a very complicated spinal PN and multiple complications who failed transition into the adult world. So, at this point, she’s 29 years old, she has a spinal plexiform that was diagnosed very early in childhood. She was not at our center when this was taken care of. She had associated dystrophic scoliosis; she had rod placement.

 

And when I met her she was 15, but she had had many, you know, many medical issues prior to that time. Along with her medical issues are headaches and a lot of anxiety and intellectual disability, which has really impacted her ability to sort of transition. So despite multiple attempts at transitioning her to adult care, she has basically not followed through with these appointments. And we have a very strong clinic coordinator, as I said.

 

And even, and actually at Children’s, at CHLA, we have a wonderful program for our Center for Healthy Adolescent Transition, or CHAT, which really takes in these patients when I’m ready to transition them, helps find appropriate medical care, deals with insurance, transfers their medical records, gets their MRIs on CDs or transferred electronically, whatever needs to be done. And despite all of these efforts, she still has not been able to quite make it into the adult healthcare system. Her intellectual disability, anxiety, and learning disabilities have been really barriers to her managing her own care.

 

Previously her mother was very involved in her care, which I think is very common that there’s a family member who goes to appointments and helps support patients. But as soon as patients enter adulthood, they may have less contact with their family who’s been supportive. At this point, she’s been married, so she’s not living at home, and her husband’s been very engaged. But, you know, this is all new to him that she has all these medical issues and needs to go to the doctor and get scans and healthcare, her healthcare taken care of.

 

So her mother’s really been minimally involved. And she lives a far distance from her mother, and she also lives a far distance from our clinic, which has also been a barrier. She’s not been able to work due to her pain, chronic pain and limitations. So, you know, even doing simple things like having money for gas or transportation has been a challenge.

 

And one barrier is actually me and my center because we continue to see her. So there is, you know, like Leia said, if someone does not have adult care, I’m still going to take care of them in whatever way that I, I possibly can. But we realize too, from the pediatric end it’s very difficult to let go of our patients. And that, that is a real problem because the patients don’t want to let go of us, and we don’t want to let go of them.

 

But we all realize, at the end of the day, at some point, you really do need to go off to adult care. And, for whatever reason, her insurance is still approved for her to come to see me. And it is also approved for her to get her scans at CHLA. So we’ve continued to provide care for her, which, you know, I would rather her have care somewhere than nowhere.

 

But as you sort of enter into your thirties, this is really outside of my area of expertise, and you move into, you know, issues of adult healthcare, like she’s going to need mammograms and screening and MRI, you know, breast MRIs to screen for breast cancer. And that really is beyond my purview. So, it really kind of highlights the need to, you know, get plugged into an adult system really in your twenties. She continues to contact our pediatric center.

 

We do the best we can. She really has expectations that we’ll continue to care for her through adulthood despite our numerous attempts. And I really like this quote; this was a quote that came back to me from our CHAT program about the challenges they’ve had, that…

 

They’re also very diligent and, you know, have made multiple attempts to, kind of, get in touch with her, get her hooked up; our coordinators have tried. But they said, “Patients with intellectual disability are particularly concerned during their transition process as many struggle to navigate the complexities and understand the implications of their healthcare. There is a need to tailor the adult transition process to provide additional support services, advocate and empower patients, and ensure accessible and holistic care.” And I think we both really, really believe that.

 

So, you know, just to highlight this case here, you know, adult patients with PN face challenges finding a provider, as Leia highlighted; there are very few adult clinics across the country and adult providers. But we need to ensure additional support as they transition from a pediatric center. And being well prepared ahead of time and beginning this process as, as patients are really in their teens and early twenties to sort of expect that, you know, we need to transition you, and we’re going to help you find a center where you can go and get good care, will really minimize the disruption of care during this vulnerable time.

 

– Do you think the issue is her anxiety? Also, you mentioned earlier that she has anxiety issues, too.

 

– Yes, so she has very high anxiety. And I think because of her intellectual disability does not have a lot of insight into how her anxiety really impacts her. So I get multiple calls and emails, mostly just for reassurance: “I have some pain, my headaches are back.” And I just have to say, remember, you’ve had headaches since I met you when you were 15 and so that’s a very longstanding issue.

 

And you had an MRI three months ago, so I think it’s probably not some new manifestation. You know, just kind of a lot of reassurance. But you know, I mean, I have fairly regular contact with her just to sort of reassure her. And because she’s not plugged in with adult care, she doesn’t have a psychiatrist who follows her who can really diagnose and manage her anxiety, which, certainly, there’s a component of depression in here, too.

 

You know, it’s just, it’s just a very complex situation. So, you know, it’s hard for her to get, you know, a psychologist and psychiatrist to support her as well.

A successful transition to adult care

See how two NF specialists collaborated to transition a patient from pediatric to adult care.

And this is actually someone who has successfully transitioned between CHLA and to UCLA. And so the patient is being followed by me at this point. And she actually really didn’t transition until 51 years of age. So this is a patient who Dr.,

Tena really hung on.

– Like for 15, 20 years we’ve been doing this.

– This patient is actually very knowledgeable about her NF1. She has a lot of NF1-related medical problems. She has been followed for 12 years from CHLA. She has this large sciatic plexiform neurofibroma that impacts her quality of life.

And this is a postcontrast T1 image on the screen of that PN. And she really has had chronic pain and leg weakness for quite a while. She’s unable to work because of the pain and her limited ability to participate in society. She also has quite a few other complications.

She has renal artery stenosis, associated hypertension; she has migraine, she also has known osteoporosis. And Tena, I remember you mentioned this to me and said there’s no one that’s seeing patients with osteoporosis in the children’s clinic. So she really needed, you know, an adult. She really needed an adult physician.

And she’s actually very well educated. She’s someone who knows a lot about the NF community. She’s very active in the NF community. She knows how to navigate the healthcare system very well.

And she always felt like there’s no adult NF program that really can understand her as a whole patient. And she was very attached to Tena, so she’s very, very reluctant to transition into the adult NF clinic. And honestly, I actually have met her for several years in a row. A lot of it is at the NF walk, the CTF NF walks, for instance.

She’ll come up, she’ll talk to me, Tena would introduce us, say, you know, “Here’s someone who knows NF1,” and we would talk. And she, you know, spent years doing this, several years. And then I have a coordinator, she talked to my coordinator, and it really was just like in this last year that she finally decided, okay, I’ll come to your clinic now. So we really did a slow, warm handoff transition on this patient.

She was seeing both of us for a little while also until she felt very comfortable in our adult NF clinic to completely kind of move over and say, okay, I am no longer going to go see Dr. Rosser anymore. And so this took a lot of work, actually, from our clinic coordinators speaking with the patient, speaking to each other, reassuring the patient that she will be well cared for and that I have all of the access from CHLA about her records, all of her imaging before she came over, before the patient was ready for the transition. But, you know, she’s actually a very successful transition, and even when she comes to my clinic now, you know, we’ll, we still talk about Tena, and I’m like, I just saw Dr.

Rosser, you know, last week at this meeting, etc. So she likes to hear about things like that. So, you know, it is really important to realize that patients with NF1 face a lot of challenges in transitioning from pediatric to adult care. And these challenges should be considered proactively and managed to ensure a smooth transition for these patients.

And we really need to understand the fear of these patients no matter at what age they decide to transition and give them the time to do it.

NF1 diagnosis and clinical manifestations

Hear an NF specialist discuss the clinical presentation of NF1 and the full impact of this disease on patients’ lives.

NF1-PN is a progressive lifelong condition. NF1 is more common than you would think. We see an incidence of about one in 2500 live births and a prevalence of one in 3000. And we know we have Europeans in the audience, but in the United States there are about a 100,000 people with NF1, which means there are about 30- to 50,000 patients with NF1-PN.

The incidence of NF1 is 10 times higher than the incidence of NF2-related schwannamatosis. So, this is what many of us are very familiar with in our clinic. And it’s one and, almost one and a half times higher than the incidence of Duchenne’s muscular dystrophy, which many people are familiar with and has a lot of visibility in the medical community. So NF1 is driven by variants in the NF1 gene, which is a key regulator of tumor growth.

Patients with NF1 are at risk, increased risk of benign as well as malignant tumors with diverse physical and neurologic manifestations. It’s caused by loss-of-function variants in the NF1 gene, which code for the protein neurofibromin. And that protein, neurofibromin, controls the RAS, is an important part of the RAS/MAP kinase pathway, as you can see on the right. And it’s overactivation of this RAS pathway that leads to increased cell growth and hence the problems that we see.

And it can predispose patients to tumor development, particularly in the peripheral as well as the central nervous system. So, they’re really diverse NF1-related multisystem manifestations, which develop over time. For those of us who are child NF-ologists, we really see this from birth. We see babies who are born with café-au-lait spots through early childhood with the skin manifestations.

They can develop the freckling under their arms and down in the groin. At birth and very early in infancy, we may see complications such as the musculoskeletal manifestations, such as orbital dysplasia, tibial dysplasia; pseudarthrosis may be apparent very early on. Congenital heart disease also has an increased incidence, so we may hear murmurs or need input from cardiologists. As kids kind of get into infancy and their toddler years, the developmental delays may become apparent.

And there’s a wide variety of delays: speech, gross motor, fine motor, certainly behavioral issues such as difficulty with your social skills and autism. We really want to highlight here early on the challenges that patients can have with their learning issues and behavioral issues because this can really impact our ability to transition them later down the line into the adult world. As kids get into early childhood, we may see things like headaches; patients with bone manifestations may begin to develop scoliosis; they may have fractures if they have pseudoarthrosis or tibial dysplasia.

And early adolescence and late childhood are when the cutaneous neurofibromas may, may appear. And as we move into adulthood, again, all of these things may continue to manifest. But as we move into adulthood, that’s when we may see the malignancies which are associated with NF1. And these include, coming from plexiform neurofibromas, a high incidence of malignant peripheral nerve sheath tumors, a higher incidence of breast cancer, leukemia, lymphoma, pheochromocytomas, our duodenal carcinomas, GISTs, and rhabdomyosarcomas.

Certainly, there’s an increased incidence of heart disease as patients age as well. So, you may have complications from aortic coarctation; AVMs may appear and other cardiovascular abnormalities. So, as part of the spectrum, of course, plexiform neurofibromas may be apparent very early on, and they may progress and start to cause issues. These are diffuse tumors which grow along the length of nerves anywhere inside the body and, as we know, will cause significant morbidity.

So, everyone in this room is here because they have a very deep understanding of the diagnostic criteria of NF1, so I’m not going to belabor this. But we know that new criteria came out several years ago, or updated criteria, and they’re just here for you to take a quick look at. So, certainly, you need to have two of seven things. So café-au-lait macules, skinfold freckling, either cutaneous or plexiform neurofibromas, optic pathway gliomas, distinct osseous lesions such as the sphenoid wing dysplasia or tibial dysplasia, Lisch nodules, and then now the ability to include genetic testing as part of our criteria are there.

Patients with NF1-PN are at higher risk for developing malignancies, such as malignant peripheral nerve sheath tumors. So, really, we want to highlight here the importance of diagnosing these early and treating them as early as possible when applicable. So, NF1-PNs are heterogeneous, and they can be invasive as well as displacing. You can see from the pictures there that these can cause significant pain and disfigurement.

They’re very cosmetically challenging, often depending on where they occur on the body. And they can be associated with motor function problems; airway compression, as we saw in the video, bowel, bladder problems, and vision issues. On the picture on the left here, there’s an orbital plexiform, and certainly for those of us, again, who see young children, it may be a very subtle finding around the eye when babies are born or in their first couple months to years of life. But as things progress, you can see that, (A) this is very disfiguring, but also, this patient is going to be blind.

There’s no way that you’ll be able to see with that, which really highlights the difficulty that this can have both cosmetically as well as medically. The patient in the next image has a very diffuse plexiform involving, probably, the neck and the brachial plexus. My guess is this goes down the arm and can really limit function. It’s probably very painful, which is difficult.

And then, in the other two pictures, you can see, as these grow, how they become physically, you know, very challenging. And even small tumors can result in significant morbidity. The one on the far right there, you know, is really kind of blocking the auditory canal, and we have many patients like that. And so, it’s very difficult that, you know, you can’t hear from one ear, and it’s not because you’re deaf from a nerve problem; it’s because there’s obstruction of your auditory canal.

So, the picture on the far right there shows that the most common locations for PNs are the head and neck. They can happen anywhere on the trunk, both inside or outside the body. But also the extremities, either proximally or distally, can be affected. In one study of NF1-PN, 77% of PNs were either invasive or displacing, which again highlights the challenges these lesions can cause.

So, NF1-PN are also associated with increased morbidity as well as mortality. The [median] age of death for the general population is 74 years. In NF1, this is quite reduced to 59 years. And much of this is due to the morbidity that’s associated with NF1-PN.

As you can see in the pie chart there, 60% of the mortality is secondary to malignant peripheral nerve sheath tumors, which arise from PNs. There’s also a high incidence of mortality and morbidity associated with gliomas and other CNS tumors. A smaller amount from organ compression and compression of the spinal cord. And a very small sliver there, about 3%, from pheochromocytomas.

So, NF1 are, often cause debilitating morbidity, including pain, disfigurement, compression of internal organs, impaired physical function; and all of these can impact quality of life for our patients. Both patients as well as caregivers are impacted by PNs. The patient burden, as we said, you know, can lead to these disfiguring lesions, bony erosion, organ displacement causing pain, dysfunction, but also emotional distress and really impact quality of life. Patients across all age groups can be affected.

This is in children as well as adults, and the literature really supports this; this has been evaluated. But we also, I think, in clinics sometimes forget that the caregivers can also be quite affected by this. For parents, they need to care for young children who may be having social issues from their cosmetic problems and having to go to the doctor and needing to get medical tests, such as MRIs, done on a regular basis; they have to suffer the emotional impact of having a child who may be in pain, who may not be able to have a normal childhood because they have an NF1-PN. And the caregivers themselves can be affected by psychological, economic, and social burdens.

And I think the quotes here really highlight from three different patients— these are actual patient quotes— of how people navigate this world and actually hide their PNs just to, to, you know, help live their lives. So Krista comments that she wears her hair down around her plexiform so that people won’t notice it. Antwan, as you saw in the video, you know, really has medical issues from compression of his lung and has to deal with issues with his breathing, essential function of life. And then Lindsey comments that, you know, it’s just kind of hard to exercise and sit on a, you know, on a bicycle and do something that many of us do without even thinking about it on a daily basis.

She just can’t get comfortable to exercise because of her PN.

Unmet needs with current management

Listen to an NF specialist explain the need for additional systemic therapies and the limitations of surgery in the management of NF1-PN.

I’ve been doing NF for over 20 years, and I remember when there were no medicines and there were no medical options for this. And we had to, you know, make important decisions about who needed surgery and when they needed surgery. But it’s really not a great option in many cases; it’s very suboptimal. Because of the diverse nature of PNs, they’re highly vascularized, they’re very invasive, they sit next to very important structures.

 

So, going in and removing some or all of these when possible is, is really difficult. The tumor size, the adjacent locations can really make it challenging to resect. So, about 50% of PNs are considered inoperable, which is really a high proportion when you think about our patients and how they may be affected by this. Even if they are resected, about 30 to 50% of them can regrow, which, over the course of a lifetime, if you think, if a child has a PN and they have a surgery when they’re 12 or 18, you know, they have to think about what is this going to mean when I’m 30 or 40 or 60?

 

And how many surgeries am I going to need over the course of my lifetime? And about— even if these are mostly, are all resected— about 20% of them will still regrow. So, even if you have surgery, this is still a lifelong complication that can impact you as a patient. And there are no approved systemic therapies for adults with PNs.
 
We do have one systemic therapy, a MEK inhibitor, which is approved for children with symptomatic inoperable PNs. So, these are really unmet needs for patients with NF1 and their inoperable PNs.

Optimizing the transition from pediatric care

Watch two NF specialists discuss what they do to overcome the challenges of transitioning pediatric patients to adult care.

We know there are a lot of challenges with transition of care. These are just the many things, but there are always, I think, additional things that we sometimes don’t think about. Some of the things that we have heard from patients as well as caregivers and physicians are that one of the challenge is capacity. There are not that many adult practitioners who see, and specialists who see patients with NF1 and NF1-PN.

 

The patients also lose a lot of support when they become adult. They not only lose their parent or caregiver who used to go with them to clinic every day, because now as adult they have to navigate the health system on their own, but it also might mean that they actually could lose insurance as they become adults, losing their kind of pediatric support that a lot of states have. And that’s a common theme in the States; I don’t know about globally. But certainly, we see that quite a bit in the United States.

 

The patient role also now change as they become adults. They can have more burden of complications as adults because they were solely relying on their parents when they were young; now that they’re adult, they may lack a knowledge of NF1 and understand that they need to transition to care and how to follow up as an adult with NF1. And they may lack the awareness of the importance of following up on all of their tumors. There’s a lot of logistics difficulties in adult care.

 

There’s no longer kind of a team approach in a lot of places to care for these patients, so they have to take care of all of the appointments themselves, getting extended visits, seeing all the different physicians that they might need. And so, patients may not be able to follow up with the logistics on their own. And, as an adult neuro-oncologist, I also know that my clinic lacks the support that most pediatric hospitals have. You know, we really don’t…

 

We have ancillary services, but it’s quite limited. And, you know, we don’t have the abundance of nurses, social workers, care coordinators. And, I think, at an academic center I may have more. But a lot of adult clinics may not have any of these type of care coordination for patients when they are no longer pediatrics.

 

So, these are a couple of comments from adult patients with NF1-PN, for instance. They are scared about transitioning to adult care because they feel like they really don’t know any physicians that know about the disorder, know about NF1. And they sometimes Google during the consultation. And that, this patient said, “I find absolutely unacceptable, personally.”

 

Because I think, you know, we’re neurologists, so we’d learn a little bit more about NF1. But certainly, I’ve had, I have had colleagues that tell me, oh, I heard about NF1 when I was in medical school. So it’s certainly not a well-known condition to most physicians out there. Another patient says, “I’ve gotten older, I’ve been trying to navigate NF and the various symptoms that have come up throughout my adult life, and it’s been harder to find care.”

 

So, these are kind of the common thoughts that we have from patients. So, to kind of highlight the difficulty of transitioning patients from the pediatric care to adult care, like we mentioned earlier, we have a few cases that we’re going to go through, and so we’ll start with the first case. This is a patient with an NF1-PN that was lost to follow-up. So, this is a patient that came to my clinic at around the age of 40, really after he has become symptomatic and faced with an inoperable condition.

 

The patient has NF1, has actually quite a big family history of NF1, and also has known PN. But he was doing well; he was followed as a child by geneticists and neurologists, but as he grows up he no longer follow with those physicians and really wasn’t seeing any physician who has knowledge in NF1. He was asymptomatic; he really didn’t think that he needed specialist care. And it wasn’t until he was around 40 years of age that he started having more pain in his right hand.

 

And this is kind of something that he noticed over several months, actually. He started having more and more pain, and then started having some sensory loss in the right hand and actually noticing over several months that he would start dropping things as he was picking them up with his right hand because he’s right-handed. And he finally kind of reached back to his original geneticist, and so they actually recommended that, he should come and see us over at UCLA. But even with that, it took the patient a little time to make the appointments because if you know anything about southern California, there’s actually a lot of traffic.

 

And the patient technically live in Los Angeles but quite far from where my hospital actually is, so he was a little reluctant to come out. He actually spent quite a bit of time with my coordinator explaining all of his symptoms and his reason to come out. And then we realized he was having right-sided weakness. So we said, “Actually, you should be seen urgently; let’s get you into clinic as soon as possible.”

 

And so we brought him in, did a workup on the patient, a neurologic exam. He did have some mild to moderate weakness on the right side. We obtained an MRI of his arm. And you can see, the postcontrast T1 image that’s on the screen right here shows an enhancing mass kind of over the right arm area.

 

And we also did some EMG and nerve conduction study to really indicate that the weakness is associated with this mass. The way we have it in our clinic is we have both an NF tumor board as well as joint appointment between me and neurosurgery. And with neurosurgical consultation, our neurosurgeon did not think that they could completely remove this mass without causing the patient a lot of morbidity. And the patient was also very reluctant to have any trial as surgery.

 

They wanted to have other alternative management first, even though the mass is inoperable. So, he pretty much is managed medically at this point. And despite taking a little bit of time to get to see us and being seen in the adult NF1 clinic, the patient is actually, is relieved that he is being seen by a specialist at this point, even though we told him that “your mass is going to be inoperable.” He actually has referred a lot of his other family members.

 

One of his parents, as well as several siblings, also have NF1 manifestation. So, I’m now in the care of half his family. So, as this case kind of highlights, that it’s very beneficial for patients to have regular coordinated care and multidisciplinary NF1 care. Because, you know, part of it is, I think, I hope that if I saw this patient earlier or have been following this patient through his lifetime when he was still asymptomatic, you know, we could have helped him a little bit more and prevent the symptom that came on and the weakness that the patient has at this point.

 

So, you know, I think this kind of highlight, I think, a very common theme among adult patients that come to our clinic where they may not have been following with pediatric clinic for a while. And I know, Tena, for instance, even when you have trouble transitioning a patient to adult clinic, you usually hang on to the patient. I know Tena does that, but, you know, a lot of doctors don’t. And do you think you can think of a few things, of a reason why these patients get lost to follow-up like this?

 

– Yeah, well there, there are many reasons and again we’ll kind of highlight some of those. But, you know, certainly, just the, the…

 

It depends on what the handoff is from the pediatric clinic or sometimes their primary care doctor or their geneticist in the community. What is that handoff? Is that dependent on, you know, the center itself, and who is there supporting the family? Is it a social worker, an NF clinic coordinator?

 

Or is this burden on the patient and/or their family? If it’s just on the patient and their family, you may really, you know, without these auxiliary services, you may really just, you know, they just kind of, like, go poof, and they don’t resurface until they really have a medical problem. And obviously, you know, we would all want our patients to know about these sort of complications well in advance. Can you just say a little bit about what, what it will mean to retain him in your clinic?

 

Like, how hard is that going to be now that he’s kind of connected? Is he going to just sort of, like, disappear again, or do you think that this is going to be….

 

I mean, he’s only 40, so, you know, he’s got a long time. So, is this going to be a lasting relationship?

 

– I think so. Actually, he was very happy to see us and became very proactive. I mean, he pretty much now has a list of things that he wants done. He felt that he finally talked to a physician that knew him as a whole and understood where he’s coming from, why he has pain as well as weakness, and also think about the rest of his complications too.

 

And I think that’s another common theme that I have from our patients is that a lot of time, if they’ve been lost to follow-up and they just see a family physician, they may just take care of the one issue, which is pain, for instance, and then just manage their pain but really not think of them as a whole. And so now that the patient has this, you know, he feels like he was able to just talk to us for quite a bit and have a dialogue about his disease. Also, you know, we’ve tried to…

 

At least, we’ve been able to do this over the last few years, and I hope we won’t have to change in the future, is, you know, the advent of telemedicine really has helped with these patients. I usually try to see them once in a while; especially if I need to do a neurological exam, I do bring them into the clinic. But once they’ve kind of gone through a follow-up and have, you know, we’ve made a plan of what to do, you know, I can see a lot of them by videos, so that helps these patients a lot. And when they hear that too, they’re like, “Okay, I’ll make…

 

I definitely will follow up with you by video in a month.” Yeah.

 

– And can you say a little bit about the role of the clinic coordinator in sort of retaining patients and how, the important role that they play in, you know, sort of maintaining the medical care that patients need, the multidisciplinary care.

 

– So, I brought that up a little bit because originally when this patient….

 

I actually was connect—, contacted by the patient geneticist, who asked me to see the patient and also to set up with surgery to see if this mass was operable. And the patient, like I said, was kind of reluctant to come and see us because he’s like, you’re so far away, you know, I have to do all these logistics. So, I actually had my coordinator just talk to him, really went over the symptoms, really explained, look, you’re having new symptoms, things are progressing, I think you need to be seen right away. So, I think without my coordinator, it may have taken him even more months before he came to see us.

 

And then, you know, having someone who he can call in between, especially since we started medical management, if there’s some, somebody there that he can call if he has symptoms or something has changed before he has that next appointment with me, I think it really makes a difference for these patients, yeah.

 

– And Leia and I have both been very, very lucky that we have very strong clinic coordinators who both now are quite experienced and, really, when patients are transitioning, do a nice, warm handoff, and if there are any issues, they can follow up on both sides, which has been great and really has helped, helped kind of, with the handoff.

 

– This is actually someone who has successfully transitioned between CHLA and to UCLA. And so the patient is being followed by me at this point. And she actually really didn’t transition until 51 years of age. So, this is a patient who Dr.,

 

Tena really hung on.

 

– Like for 15, 20 years we’ve been doing this.

 

– [Leia]
 
This patient is actually very knowledgeable about her NF1. She has a lot of NF1-related medical problems. She has been followed for 12 years from CHLA. She has this large sciatic plexiform neurofibroma that impacts her quality of life.

 

And this is a postcontrast T1 image on the screen of that PN. And she really has had chronic pain and leg weakness for quite a while. She’s unable to work because of the pain and her limited ability to participate in society. She also has quite a few other complications.

 

She has renal artery stenosis, associated hypertension, she has migraine, she also has known osteoporosis. And Tena, I remember you mentioned this to me, and said there’s no one that’s seeing patients with osteoporosis in the children’s clinic. So she really needed, you know, an adult physician. She really needed an adult physician.

 

And she’s actually very well educated. She’s someone who knows a lot about the NF community. She’s very active in the NF community. She knows how to navigate the healthcare system very well.

 

And she always felt like there’s no adult NF program that really can understand her as a whole patient. And she was very attached to Tena, so she’s very, very reluctant to transition into the adult NF clinic. And honestly, I actually have met her for several years in a row. A lot of it is at the NF Walk, the CTF NF Walks, for instance.

 

She’ll come up, she’ll talk to me, Tena would introduce us, say, you know, “Here’s someone who knows NF1,” and we would talk. And she, you know, spent years doing this, several years. And then I have a coordinator, she talked to my coordinator, and it really was just like in this last year that she finally decided, okay, I’ll come to your clinic now. So, you know, we really did a slow, warm handoff transition on this patient.

 

She was seeing both of us for a little while also until she felt very comfortable in our adult NF clinic to completely kind of move over and say, okay, I am no longer going to go see Dr. Rosser anymore. And so, this took a lot of work, actually, from our clinic coordinators speaking with the patient, speaking to each other, reassuring the patient that she will be well cared for and that I have all of the access from CHLA about her records, all of her imaging before she came over, before the patient was ready for the transition. But, you know, she’s actually a very successful transition, and even when she comes to my clinic now, you know, we’ll, we still talk about Tena, and I’m like, I just saw Dr.

 

Rosser, you know, last week at this meeting, etc. So, she likes to hear about things like that. So, you know, it is really important to realize that patients with NF1 face a lot of challenges in transitioning from pediatric to adult care. And these challenges should be considered proactively and managed to ensure a smooth transition for these patients.

 

And we really need to understand the fear of these patients no matter at what age they decide to transition and give them the time to do it.

 

– And we’re both very lucky that we both work in academic institutions where the care can sort of be under one roof. I think that’s really a challenge because many of my patients who have not gone to Leia and before we had this formal relationship, you know, have a PMD here and an orthopedist there, an oncologist here, and a PMD who doesn’t know too much about all this and doesn’t really coordinate their care, and there’s no NF-ologist out there sort of, you know, overseeing things, and it’s really difficult. And that’s the majority of our patients, you know. Or the parents of my pediatric patients who say, “Dr.

 

Rosser, where do I go? Where can I get my care?” And in the US, much of this is limited by insurance, which may or may not be something that patients can change. It either comes through the state or it comes through their employer.

 

And if the employer doesn’t contract with UCLA, then they actually can’t go see Leia, and they may not really have an option. Which I think really speaks to the fact that we need more NF clinics, we need more adult providers, we need support for the whole transition process here just to educate all specialties that might impact, you know, patients with NF1. So, just across the board, out in the community, it’s, it’s really difficult. And patient, parents come to me and ask about their adult complications, which, you know, I’m prepared on some level, but really, I’m not an adult provider.

 

I give the best guidance I can, and certainly Leia is an amazing resource when I need her, but it’s really difficult.

 

– So, I’ll talk about a few things that we do have to think about on transition of care and also adult care. So, these are some best practices for transition of care that was put together by the NF Collective. And, really, the transition of care should be thought about since the patient is in childhood, as a child. There’s a form called a Transition Readiness Assessment Questionnaire that can be given to the child and encourage the child to ask questions and understand that as they become adult, they may have to transition out of pediatric care.

 

Once the child becomes a young adult, they really need help from the pediatric provider to find an adult provider. And, preferably, also a social worker who have an understanding of transition to adult care, ensure that the patient has psychosocial support. Like we talked about, all of these patients with NF1 actually comes, can come with a lot of psychiatric issues as well as learning disabilities. And having psychosocial support, especially as adults, are very necessary for these patients.

 

Help the patient understand their insurance coverage. And also encourage them to have self-advocacy. So, you know, can’t rely on the parent anymore, especially if they get married and the parent feel like they cannot be in the picture anymore. The patient needs to learn how to be a self-advocate.

 

And as adult, ensure that the patient has a plan for tracking appointments and maintaining insurance coverage. You know, we’re lucky, and especially I’m lucky, I have a very good clinic coordinator who really keeps track, and she’ll call the patient before they’re due for their follow-up scans. Like, you know, “Don’t forget, you have a scan coming up in a week or two weeks,” to remind them of these things. But, you know, not a lot of, not, other clinics probably don’t have that resource.

 

Encourage consulting with a genetic counselor for starting a family. And we talk a lot about things like that. You know, what do they want to do, if they want to start a family. Having resources for psychosocial support.

 

Encourage active surveillance of their internal tumors, especially if they’ve never really had symptoms, and now as adult, it’s time to find out if they have any internal tumors. Discuss the importance of keeping appointments and continuing care throughout adulthood. These are some best practices for maintaining continuity of care. And one, and actually, you know, this is a plug for one of our audience member, for Heather, who wrote this wonderful paper that we actually, myself, kind of refer to quite a bit.

 

There’s, you know, one is that we need to identify high-risk individuals who may need additional support. Acknowledge transition as an ongoing process. Like we said, you know, it is not just like Tena say, “Bye” and then I say, “Hi”; no, you know, like we see them back and forth together and really make sure that the patient feel comfortable transitioning to another provider before we completely hand off on the patient. We also need to educate the patient and also other providers that NF1 is a progressive condition that requires proactive care throughout adulthood.

 

So, they may be asymptomatic now, but they need to understand that they need to be monitored over times, and new symptoms might come up. And they need to contact us if there are some new symptoms that comes up before their regular follow-up time. Prioritize patient education on medication and disease management. Provide patient education on genetic risk for their offspring.

 

Like again, oftentimes I will ask my patients, you know, what are their plans about having children in the future and discuss this with them. And offer healthcare provider training on how to care for adult patients with NF1.

Returning to care due to severe symptoms

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Adult patient who failed to transition to adult care

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A successful transition to adult care

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NF1 diagnosis and clinical manifestations

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Unmet needs with current management

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Optimizing the transition from pediatric care

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Meet Krista

She was diagnosed with NF1-PN at 6 months old. Hear her speak about how she has dealt with the condition.

My name is Krista. I’m 39 years old. I live in San Antonio, Texas.

I was diagnosed with NF1-PN when I was 6 months old.

My parents noticed that I had some distinguishing markings all over my body.

I had the café au lait spots all over my body. I had freckling in my groin and in my armpits, and I had the large plexiform on the left side of my neck.

I didn’t always understand why I had to be at the doctor so much. And I really just wanted to be like the other kids my age. And I think I was navigating this unique time in my life where I looked very different.

I had this large, you know, birthmark, and I had even some, like, hair growing on the side of my face from the plexiform neurofibroma.

As I was transitioning into, like, middle school and high school, I really was just trying to fit in. 

I got to college and nobody cared anymore. Nobody was making fun of me, and so I kind of at that point just was, like, I can live with this. You know, I’ll be okay.

My outlook with living with NF is that I’ve always tried to have the mindset of focusing on what I can control and just trying to live life to the fullest.

Meet Antwan​​

He’s been living with NF1-PN for decades. Hear him talk about life with the condition.

My name is Antwan. I’m 38 years old from Kansas City, Missouri.

From what I know, I was two years old when I was diagnosed with NF1. I didn’t realize what NF was really until I became an adult when it really started to give me some challenges.

In 2010, when stuff really hit the fan, it was like, all right, something’s really wrong. Like, I can barely breathe. Like, now I’m like, barely had any energy, and like, I was like, literally on my deathbed.

One doctor encouraged my mom to have me transferred. Another doctor took over and said, hey, we know exactly what to do. And that’s when they realized that a tumor was like, pushing against my lung. So it didn’t leave a lot of room for my lungs to expand, so I wasn’t producing enough oxygen.

But, hey, as long as I can still move around, I’m happy. Like, I don’t get around as easy as the average person, but to me, like, I don’t know what average is because I lived with this my whole life.

I always like to tell people I’m like the sickest healthiest-person you’ll ever meet.

So I’ve had 18 surgeries. I’ve been in the hospital over 25 times, but yet, I’ve traveled. Like, I’ve graduated with a master’s.

No matter what you go through in life, if you have that right attitude, you can, you can really do anything you want.

Planning for a family

Lindsey and Krista discuss the impact NF1-PN has had on their respective family planning journeys.

[Lindsey]
My doctors discussed family planning with me when I was in college.

So, I was maybe 20, 21 years old.

My NF doctor asked me if I was planning on becoming a mother, and when I said I’d someday wanted to be, no time soon, he let me know that it’s most common in people with NF to not only genetic test their embryos to ensure they’re not passing on the genes, but in some cases with NF, it is unsafe for the woman to carry based on different symptoms that she may have.

So, finding that out at a young, vulnerable age when you’re not even, you know, thinking about starting a family, that was a different experience, I think, than a lot of people who struggle with IVF for building their family.

I came into it a whole different way.

[Krista]
In the back of my mind, I always kind of knew I might have to take alternative measures when it came to family planning.

There’s no history of it in my family, but there is a 50/50 chance of passing it on, you know, to my offspring, and although I’ve lived a relatively good life and have been able to manage my symptoms, that might not be the case for, you know, my future child.

It didn’t really become real until I met my husband and, you know, he really wants children.

So, we did the two rounds of IVF last year and, just, that didn’t end up going the way we had hoped.

All of our embryos, you know, tested positive for NF and were affected by the gene.

And so at that point, we decided that adoption was the best route to go.

[Lindsey]
I do not ever stop going to my doctor’s appointments to get monitored, and the reason why I don’t stop is because it’s my health, and I want to continue to be healthy and to be alive and to be around for my family and my friends and hopefully a future family.

Monitoring NF1-PN

See Antwan talk about why it’s important to monitor NF1-PN.

If I was talking to an NF1 patient that didn’t think it was important to see a doctor or to monitor themselves, I would say, don’t be, don’t be naive like I was.

Because if you’re not seeing a doctor on the regular and you’re not monitoring it, what if something does turn to cancer and you’re not seeing a doctor on the regular?

When I got sick in 2013, they found a huge tumor. They even showed me a picture of it. It was crazy. I can’t believe how big it was. That was pushing against the lung, and they found, they found cancer cells in that tumor.

But luckily for me, because they caught it early and because I was seeing the doctor on the regular, they were able just to remove that tumor, and they stopped the cancer. Cancer never was able to grow anywhere.

I get CAT scans on a regular just to make sure no new tumors are popping up. And if a new tumor do pop up, they usually biopsy it right away.

So it helps, you know, seeing a doctor on a regular basis.

If you can stay on top of it, a lot of times when something new pops up, they can catch it before it gets out of control.

Doctors make the difference

Krista explains the importance of staying connected with her doctors.

I’m lucky that my childhood doctor still sees adult patients with NF, which is sometimes rare because as you become an adult, sometimes it’s harder to find neurologists or specialists who will see you because you’re an adult patient and no longer a pediatric patient.

He really, you know, wants the best for his patients, and he knows that his adult patients sometimes don’t have the same resources that his pediatric patients have.

He’s up to date on, you know, the different research being done, and he’s willing to connect me to those resources if it’s a good fit.

I’ve had friends who don’t always go to the doctor to manage their care.

You know, I always try to tell them that you have to be your own advocate, and it’s important to manage this condition.

It’s also just important to stay connected to your doctor.

And if they can’t help you, don’t hesitate to seek out a second opinion.

Just because one person says they can’t help doesn’t mean somebody else can’t.

I’m lucky to have a great team of specialists who really care about me as the patient. That makes me feel really good because they take you serious.

Owning NF1-PN care

See Antwan talk about how he stays motivated even on tough days.

As far as what does owning your own care mean to me is one, knowing your body, knowing when something’s wrong, knowing when something’s off, and being able to communicate that to your doctors.

Like definitely when you live life with, with NF, you never know when something debilitating can happen to your body.

Really knowing when something’s off and having the discipline to contact your doctor and let them know.

And not like just thinking, like, well, I’m being a baby. It’s not that big of a deal.

Even if it’s small, it can turn into a big deal.

So when a doctor appointment is scheduled, you know, go to it.

Even if you think nothing’s wrong with you, you know, make sure you go to your follow up appointments.

I just love life too much not to take care of me. Cause you are your best asset. You are your best asset. Nobody can take better care of yourself than you.

NF1-PN as an adult: Taking charge of care

Lindsey describes how she adjusted to managing NF1-PN as an adult.

I did not seek NF-specific care until I had to, which was when I was 17.

Building my NF care team was mostly through my mom.

Once I was in college, I would say my mom was still the one booking the appointments, and I was still on my parents’ insurance, but then, you know, once you turn, what is it? 26, that’s when you do go out on your own, and I think that transition is definitely a scary one, into being the one to take your health into your own hands rather than relying on, you know, your caregivers or your parents.

Owning your care is being an advocate for yourself.

It’s ensuring that you have all the proper resources at your fingertips to be able to access the care that you need at any time.

Luckily, I think nowadays there’s great technology that makes it easy for you to make appointments.

There’s apps, you know, that make it really easy to be able to log on to your patient portal and get it booked.

Making sure my doctors hear me and understand my symptoms is very important to me.

I do not ever stop going to my doctor’s appointments to get monitored, and the reason why I don’t stop is because it’s my health, and I want to continue to be healthy and to be alive.

Setting yourself up to make it as easy as possible to care for yourself is what’s most important.

Turning 18: What I wish I knew

Antwan shares his experience transitioning to adult care.

Before I left for college, I remember seeing my pediatrician.

He just kind of, like, checked me out and just, you know, just told me to take care of myself, and he said, “If you need me before you turn 18, you can always come back.”

But as far as, like, connecting me with any, like, doctors, he honestly really didn’t do much.

That transition of care was really, I guess I just wasn’t educated enough to know what I actually needed to do.

I knew if you get sick, you go to the doctor, but I wasn’t really educated on, like, okay, because you have these health challenges growing up, you need to get connected with another doctor when you get, you know, settled.

I just thought, you know, no big deal. I’m going away to school. Like, you know, I’m fine for the most part. But when I got sick in 2010, that’s when I really got connected with, like, a primary doctor. And I started seeing the primary, and then I had to see a pulmonologist, and then I saw my oncologist.

And they started, kind of, took over everything, and, like, since 2010 I’ve been seeing doctors on the regular.

But I just wish they would have, like, had that conversation. You know, encouraged me to connect with a doctor versus waiting until I got sick to connect.

Like, hey, you, you need to be serious. Take your medical care seriously. Or, like, made a referral or something.

But no one ever, like, they never, like, prepared me for that, that transition.

Living with NF1-PN as an adult

Krista explains how she has stayed proactive in managing her care since becoming
an adult.

NF has presented some challenges, especially as I’ve gotten older, where I’ve had, you know, more limited mobility with, you know, turning my head from left to right.

I’ve had more stiffness, and I just haven’t been as comfortable. It’s affected my sleep and just general mobility.

When I’m having these symptoms and I’m not comfortable, I bring it up to my doctor because medical care is ever changing and it’s always advancing.

I see quite a few doctors to manage my condition. I see a dermatologist, a neurologist, a neuro-ophthalmologist, an actual ophthalmologist, and then I’m followed up by my PCP.

When I was in college, I had this period of time where my skin on the back of my neck where I have my plexiform neurofibroma, the skin kept breaking down.

The campus doctor, he was like, “Why didn’t you come in last week?” And I said, “Honestly, I just thought it was, like, an abrasion.”

I know much better now that, like, anytime any of my neurofibromas are changing in color or texture, that it’s something I need to pay attention to.

I’d rather go to the doctor more so, and I’m doing what I can to control how I manage my care living with NF.

I feel like I don’t want this to be something that I let prevent me from having a good quality of life.

Meet Krista

She was diagnosed with NF1-PN at 6…

Meet Antwan

He’s been living with NF1-PN for decades…

Planning for a family

Lindsey and Krista discuss the impact…

Monitoring NF1-PN

See Antwan talk about why it’s important to…

Doctors make the difference

Krista explains…

Owning NF1-PN care

See Antwan talk about how he stays…

NF1-PN as an adult: Taking charge of care

Lindsey describes…

Turning 18: What I wish I knew

Antwan shares…

Living with NF1-PN as an adult

Krista explains how…

Downloadable resources​

Materials for your practice

Learn more about the specific challenges adult patients face and how you can help keep them engaged in their care.

NF1-PN: A quick guide

Learn more about the specific challenges adult patients face and how you can help keep them engaged in their care.

Download guide
Created by the NF Network to provide an overview of NF1.

NF Clinical Care Options*

Created by the NF Network to provide an overview of NF1.
Download guide

Materials for your patients

Provide your patients and their caregivers with tips and conversation topics to help with the transition from pediatric to adult care.

Transition-to-adult-care checklist

Provide your patients and their caregivers with tips and conversation topics to help with the transition from pediatric to adult care.

Patient checklist
Caregiver checklist
Make the most out of conversations with patients by sharing this tool that they can use to track their symptoms between visits and prepare questions to ask.

NF1-PN discussion guide​

Make the most out of conversations with patients by sharing this tool that they can use to track their symptoms between visits and prepare questions to ask.

Download guide
The Children's Tumor Foundation has a variety of brochures that you can share with patients and caregivers about NF1-PN.

Helpful guides from the Children's Tumor Foundation (CTF)*

The Children’s Tumor Foundation has a variety of brochures that you can share with patients and caregivers about NF1, including:
diagnosed with nf1
nf1 parent guidebook
nf1 guide for adults
The NF Network has a variety of articles and tip sheets on NF1.

Helpful guides from the NF Network*

The NF Network has a variety of articles and tip sheets on NF1, including:
LEARNING PROBLEMS IN NF1
NF1 BODY SHEET
NF1 TRANSITION
A guide for NF1-PN patients and caregivers transitioning to adult care.

A Guide for NF Patients and Caregivers Transitioning to Adult Care*

The NF Collective has created this resource to help with the transition into adult NF care.

Download guide
Tools are available to help patients locate NF1 doctors throughout the US. See the Children’s Tumor Foundation and the NF Network for more.†

Looking for an NF1 ICD-10 code?

The following codes may be appropriate to describe a patient diagnosed with NF1 and associated PNs.1

Q85.01

Neurofibromatosis, type 1

NF1-associated PNs

D33.3

Benign neoplasm of cranial nerves

D36.10

Benign neoplasm of peripheral nerves and autonomic nervous system, unspecified

D36.11

Benign neoplasm of peripheral nerves and autonomic nervous system of face, head, and neck

D36.12

Benign neoplasm of peripheral nerves and autonomic nervous system, upper limb, including shoulder

D36.13

Benign neoplasm of peripheral nerves and autonomic nervous system of lower limb, including hip

D36.14

Benign neoplasm of peripheral nerves and autonomic nervous system of thorax

D36.15

Benign neoplasm of peripheral nerves and autonomic nervous system of abdomen

D36.16

Benign neoplasm of peripheral nerves and autonomic nervous system of pelvis

D36.17

Benign neoplasm of peripheral nerves and autonomic nervous system of trunk, unspecified

NF advocacy groups*​

There are a number of advocacy groups that can provide information and support for those living with or caring for someone with NF1-PN.

NF Collective Logo

Visit

Children's Tumor Foundation Logo
Visit
Neurofibromatosis Network Logo
Visit
Littlest Tumor Foundation Logo
Visit
The Children’s Tumor Foundation and Littlest Tumor Foundation are part of the NF Collective.

*

SpringWorks Therapeutics is providing these websites and resources to help patients find more information about NF1-PN, but their inclusion does not represent an endorsement or a recommendation from SpringWorks Therapeutics for any group or organization. Any organization listed is independent of SpringWorks Therapeutics.

†

SpringWorks Therapeutics is providing these websites and resources to help patients find an NF specialist by region, but SpringWorks Therapeutics had no role in their development. Their inclusion on this website does not represent an endorsement or a recommendation from SpringWorks Therapeutics for any center or physician.

  1. ICD-10-CM tabular list of disease and injuries. Centers for Medicare and Medicaid Services. Updated February 1, 2024. Accessed March 25, 2024. https://www.cms.gov/files/zip/2024-code-tables-tabular-and-index-updated-02/02/2024.zip