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We continue to be inspired by our advocates and volunteers who drive recognition of rare disease as an urgent public health issue and devote their time, talents, and passion to supporting NORD\u2019s mission. In honor of National Internal Medicine Day, on October 28th<\/sup>, we connected with Dr. Kristen Kingzett, a volunteer member of NORD\u2019s Policy & Advocacy Taskforce, on what she wants she wants other providers to know about rare diseases, her experience as someone who is living with rare disease and treating rare patients, and why she advocates with NORD. Read on to learn about her story and ways you can get involved<\/strong><\/a>.<\/p>\n 1. What is your connection to rare diseases?<\/strong><\/p>\n I am a Primary Care Internal Medicine physician. I think all physicians, especially those of us in Primary Care, have some connection to rare disease. I also have a much more personal connection. At 12 years old, I was diagnosed with Rheumatoid Arthritis (now called Juvenile Idiopathic Arthritis, JIA<\/a>). Like many people with rare disorders, I now have multiple diagnoses. Later in life, I developed Sjogren\u2019s Syndrome<\/a> and then Common Variable Immune Deficiency<\/a> (CVID). In 2005, I was also diagnosed with an extremely rare head and neck cancer<\/a>. Though I am now thankful to be cancer free, since there is no research to guide him, my oncologist still does regular testing to ensure my cancer has not returned. I tell him that he is welcome to check me and NOT find cancer any time he wants!<\/p>\n 2. As a provider, and in honor of National Internal Medicine Day, what do you want other medical professionals to know about rare diseases?<\/strong><\/p>\n Oh boy, so much! I\u2019ll try to keep it to a few points: I think the first thing for us as providers is that it\u2019s okay to admit when we don\u2019t know something. It\u2019s hard because we\u2019re not trained that way, but it\u2019s okay! These are rare disorders, so we may not know all about them when these patients first present to us. I once heard a patient-advocate say, \u201cI am the expert in Me,\u201d as if it was the most obvious sentiment \u2013 and it should be! That person with a rare disorder may well be the only person in your practice with that diagnosis. Then, of course, you will do your due diligence and read every reputable source you can access. But don\u2019t forget you also have access to an expert in living with that diagnosis, your patient.<\/p>\n A rare diagnosis may not have anything to do with the reason for the patient\u2019s visit that day. Admittedly, when we providers see a rare disorder listed on the chart, it is tempting to want to focus our diagnostic attentions there. Sometimes that is appropriate, but narrowing our focus too much, too quickly could lead us to miss those \u201cred flags\u201d we might otherwise pick up.<\/p>\n It is also important to remember not everything needs to be fixed. This can be a tough concept since, as providers, we believe we\u2019re supposed to \u201cfix\u201d medical problems. However, most people with a rare disorder live at a baseline that they are accustomed to. This may present as something that seems like it needs to be \u201cfixed\u201d to an unfamiliar provider. The key question is the same for a person with a rare disorder as it is for every patient: what brought them in? What do they consider to be a problem?<\/p>\n People with rare disorders also need wellness care. So often, in between the consults and specialized care, the essentials of Healthcare Maintenance get left behind. I have experienced this myself: Providers see the JIA, Sjogren\u2019s, CVID patient, and not necessarily a woman who needs her cholesterol checked. Rare disorder patients need counseling on exercise and nutrition (diagnosis-tailored), sexual health (too often omitted in this population), substance use, and recommended cancer screenings, just like every other patient.<\/p>\n 3. What role do you see PCPs and internists having in helping to create a better future for people living with rare diseases? <\/strong><\/p>\n We in Primary Care actually have a pretty important role. We may not be responsible for managing the rare disease, but we\u2019re often the ones \u2013 along with the patient \u2013 to first identify a problem, then to listen<\/em> to the patient, start the workup and help get them to the right specialist. I cannot emphasize that word listen<\/em> enough! Patients\u2019 first encounters with the healthcare system are usually through Primary Care. We are responsible for setting the tone of their experience with the healthcare system. Having providers who are attentive to the patient experience, making sure patients and families are heard, is not only a realistic expectation, but essential to a better future for people living with rare diseases.<\/p>\n 4. What is one change you would like to see in rare diseases? <\/strong><\/p>\n Gosh, if I could only pick one: The big-picture dream I think most of us share is an accessible treatment for every disorder. On a more \u201cmicro\u201d level, I hope for more recognition \u2013 from patients and providers \u2013 that we are all on the same team. I know that might sound clich\u00e9, but as someone who spends my time both as a physician and a rare disorder patient, I hear a lot of \u201cus\/them\u201d type of language used by both sides. Unfortunately, as a rare disorder patient, I know some of that sentiment is earned. Many of us have had experiences where providers did not feel like they were on our team. But we all really do want the same thing: for the patient to meet their health and wellness goals. And the chances of success are highest when patients and providers work together as a team.<\/p>\n 5. How did you first learn about NORD?<\/strong><\/p>\n My first awareness of NORD was through the \u201cRare Disease Database<\/a>\u201d – using it as a resource to look up diagnoses for patients presenting with disorders unfamiliar to me. It is a fantastic resource for everyone, including clinicians. Over time, I explored more of the website, learned more about the organization behind the Database, and eventually decided to get involved as a volunteer.<\/p>\n 6. Why do you volunteer with NORD?<\/strong><\/p>\n I am a strong believer in advocacy, both on an individual level and at the policy level; I support NORD\u2019s public policy positions, so we were a natural fit. But it was honestly more than that. There is, at least for me, a sense of frustration that comes with being a rare disorder patient, and a feeling of such limited control. And I wanted to be able to DO something! I know my volunteering is not going to make my individual diagnoses better, but I hope that \u2013 in the big picture \u2013 it is going to help make things better for people like me.<\/p>\n As a member of the Policy and Advocacy Taskforce, I try to respond every time NORD sends out an action alert<\/a>. Beyond that, I am most passionate about expanding affordable and equitable healthcare access. I have been fortunate enough to practice medicine both before and after the passage of the Affordable Care Act (ACA). The ACA was a game changer in a lot of ways \u2013 people came into our clinics who had not had a PCP in years and now could access care. However, I am sure most of the rare disease community would agree, there is still a lot of work to be done before everyone can get the care they need.<\/p>\n 7. In the state of Michigan, where you live, legislation (HB4167; SB483) is being considered to establish a <\/strong>Rare Disease Advisory Council (RDAC)<\/strong><\/a>. The bill is so close to getting across the finish line. From your perspective as an advocate, clinician, and rare disease patient, what would be the significance and impact of Michigan\u2019s RDAC bill being signed into law?<\/strong><\/p>\n Though the individual disorders are rare, when combined the rare disease community makes up about 1-in-10 people in the state of Michigan. The unique experiences shared by the individuals in this small but significant minority are currently not reflected anywhere in our state\u2019s government \u2013 policies and legislation that impact us are enacted without any formal input on our behalf. An RDAC would give Michigan\u2019s rare disease community the voice, and really the recognition, we deserve. The platform would provide a critical forum for stakeholders across the state to analyze the needs and topics most meaningful to our community and make recommendations on how to improve public policies.<\/p>\n <\/p>\n Note from NORD: <\/strong>The RDAC bill in Michigan has passed the House and has been heard before the Senate Health Policy Committee. There are some interesting things about it that make it stand out: as written, the language requires 7 of the 19 appointments to be filled by patients, caregivers, or representatives from rare disease patient organizations. Only a few states with established RDACs legislate patient engagement at such a robust level.\u00a0And even more impressively, Michigan has voiced its support fiscally. The Michigan Legislature already approved a $200,000 appropriation for the establishment of an RDAC as part of the FY24 General Omnibus budget. Now is the time for legislators to seize their critical opportunity to provide guidance as to how the Council should be implemented and use the already appropriated funds!<\/p>\n