Gain insight into how patient‑identified priorities can inform shared decision‑making and coordinated care in NF1.
Understanding the NF1 journey: Patient and caregiver perspectives
- So from my perspective as both a patient advocate and a caregiver, I think patients and caregivers should be partners in research and development. To develop new innovative treatments, the patient voice needs to be heard, and outcomes should be decided together in a partnership rather than involving them very late in the process when clinical trials are running. They should be really there from the very beginning, because patients and caregivers can help to formulate relevant research questions and also to design patient-friendly clinical trials. This approach builds trust and makes it much easier at a later point to recruit patients for clinical trials and to measure meaningful results. The biggest gaps currently between the research perspective and patients' and caregivers' perspective and priorities, I think are quality of life questions. So for patients it matters most how can I go through my daily life and be participating in my life as much as possible. How can I reduce factors that reduce my quality of life, such as pain or mobility issues or psychological burden of the disease. So these are the questions that also should be reflected in the research questions of a clinical trial. And I think by having an ongoing early dialogue with patients and caregivers, this can be addressed. When the goal is to develop a patient-friendly clinical trial, patients and caregivers need to be involved at the very beginning so that you can rule out that there's an unnecessary high burden, for example, of too frequent study site visits, or for example, if the patient information is not clear enough, it's not written in a patient-friendly way. Those are just a couple of examples where patient input can make a true difference in the perception of a clinical trial. But as I said before, also I think the level of trust is extremely important for the decision of a patient to participate in a clinical trial or not. When it comes to shared decision-making, I think it's important that doctors respect the level of involvement that is different from patient to patient and from caregiver to caregiver. So they need to have a continuous dialogue and an open and honest conversation about the needs of each individual. While some patients and caregivers would like to be deeply involved in the decision-making and ask many questions and require detailed information, others feel overwhelmed and would rather need more guidance and a more structured approach. So I think there's no one-size-fits-all solution. It's rather then really developing an understanding of what are the actual needs of the patient or the caregivers. And for those who want to be involved, they need supporting materials that can help them in this decision-making process. Written information, but also, if possible, maybe videos can be used to better explain the information, because we have to be really honest that during a sometimes very stressful and emotional conversation with the doctor, the patient might remember only 20% of the conversation that took place. So to provide information that is needed for patients to truly be involved in a decision-making process is key. So the transition from the pediatric setting to the adult setting is a very crucial part of every patient journey. The needs of the patient change drastically, with a stronger need to be more autonomic. And also for parents, it's an important and sensitive part of the patient journey because they need to give space to the young adults and to let them walk on their own two feet. So this needs to be planned carefully and a guided process and shouldn't start too late. So it's not that this process should start in the year before a patient turns an adult, but rather several years before. And while, again, some patients need more time, more guidance, more support from their parents, others might deal with this transition much better. But again, I think it's important that this is a structured approach, that it is guided and supported with patient information. So to make sure that the patients can live a responsible and self-sufficient life with NF1. And it's also so important that this transition is working, because if patients get lost in this transition period and are not being taken care of an NF1 specialist as adults, this can lead to really high consequences health-wise, because we know that young adults in NF1 have a very high risk of developing malignant tumors. So these can be overlooked or missed, and that's why a continuation of care from the pediatric setting to the adult setting is key. There are many points during the patient journey that, yeah, that are very challenging to both patients and caregivers. I would say the first big challenge is of course learning about the diagnosis, because suddenly, the life of a family with an affected child changes drastically in an instant, and it's hard to adapt and it takes time and also, support and guidance and information. After this diagnostic shock, of course, living with a constant uncertainty that NF1 is causing is another challenge that every patient, every caregiver needs to learn how to deal with. And then, of course, depending on the symptoms that NF1 causes in each individual patient causes of course significant challenges as well. But during the transition process, as I said before, I think the young adults need to learn about their own disease, become experts about their own disease, need to know what to look out for, which symptoms might hint to, you know, a significant change or health risk, so that they don't hesitate and go to consult their treating physician to make sure that nothing is missed. So a lot of responsibility, new responsibility for the young adults, but also a lot of responsibility for the treating physicians to make sure that they are not lost. So in my opinion, when we think about care provided by general practitioners and care provided by NF specialists, to me as a patient advocate, it is clear that every NF1 patient should be seen by an NF1 specialist because most general practitioners have never seen a patient in their lives. So how can they take good care of someone living with NF1? While there's some clinical guidelines available now on a European level, for example, for tumor surveillance, and also on a national level here in Austria, we developed holistic care guidelines for NF1 pediatric and adult patients, only specialists who see a large number of patients have the experience that is needed to identify symptoms early and to make timely decisions. So that doesn't mean that there's no work to be done in the extramural sector, so with general practitioners and also pediatricians. No, they need to be informed and they need to understand where are specialized centers. And also they should learn about the early signs and the first symptoms of NF1 so that they are aware and maybe can already identify patients with a suspected NF1 early, and then know where to refer these patients to. So I think from every country to country this varies, but I'm glad that in most European countries, NF1 patients are seen in specialized centers. When NF1 patients and caregivers are released from the hospital, they also need to be informed well, because as I said before, it's a very stressful time in the hospital, and you might not remember every word that has been said. So written information is very important, and this should be provided in a patient-friendly way, so in a plain language that is understandable to patients and caregivers. The instructions should be clear, and there should always be a contact information in the case that the patient or the caregiver has a question, needs to clarify something, they should know whom to contact and how. So to make sure that, you know, everything is understood and the patients and the caregivers can adhere to the prescribed treatment at home as well. For patients and especially parents of children who have signs of NF1, access to genetic testing is key. Usually the first signs are café-au-lait spots, which appear during the first month of a child's life. But these café-au-lait spots are not sufficient to make a concrete NF1 diagnosis. So rather than waiting for other clinical symptoms to appear later, maybe even years later, they should be having access to genetic testing, because through that, NF1 can very likely then be diagnosed. And this early diagnosis is key to make sure that these children have access to routine NF1-specialized care and can be assessed accordingly so that no NF1-related symptoms are missed. And there's several quite severe symptoms that can happen early in a child's life, like tibial dysplasia or like optic pathway gliomas or very rarely, JMML. So if you have a genetic diagnosis, then you can start with all these routine assessments and you can be sure that the child is not being over-treated. On the other hand, if you don't have a confirmed diagnosis through genetic testing, all these procedures might not be initiated, and the child might not be seen by an NF1 specialist at all for several years. And again, all these quite challenging and potentially dangerous symptoms might be missed. So genetic testing is key to make sure that NF1-specialized care is initiated as early as possible. What I maybe would also mention to clinicians who are watching this is that patient organizations can be your partners and can also be an important part of the care infrastructure in every country. If patient organizations and NF specialists work together closely, they can improve, you know, information, the whole experience for the patients. They can improve services and also make sure that research is going in the right direction. So please reach out to the patient organizations if you haven't done so yet in your countries and build a sustainable partnership with them.
Patient advocate Claas Röhl (NF Kinder Austria) offers a patient and caregiver perspective on the complexities of NF1 care, noting that “there is no one‑size‑fits‑all approach… understanding the individual needs of patients and caregivers is key to shared decision‑making.” He reflects on challenges across the NF1 journey – from trial design and coordinated handovers to genetic testing and long‑term surveillance – highlighting where structured approaches and early dialogue can support more effective, patient‑centered care. View transcript .
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Meet the expert
Claas Röhl is a patient advocate specializing in neurofibromatosis and rare diseases, and Founder and President of NF Kinder Austria. Following his daughter’s diagnosis with NF1, a rare genetic tumor risk syndrome, he began his path into patient advocacy. Through building national and international networks and investing in care and research infrastructure, he helped establish the first Austrian center of expertise for neurofibromatosis in partnership with the Medical University of Vienna.
Disclosures: Founder and President of NF Kinder Austria, Founder of EUPATI Austria, and former President and Co‑Founder of NF Patients United. He also holds multiple advisory and representative roles, including ePAG member in ERN GENTURIS, registered patient expert at the European Medicines Agency, Vice President of Pro Rare Austria, and member of national oncology and rare disease advisory bodies. He reports no financial conflicts of interest.
