When a person is diagnosed with a rare condition, one of the first tasks is creating a support network. Beyond one’s own family and friends providing emotional support, a person or their parent will try to build a team to provide medical support. This means a range of activities such as seeking medical specialists, navigating local services, finding helpful reading materials, and finding a community whose members are on the same journey as you.
Depending on the size of your rare disease “family”, you might find a single center of excellence at a major institution with comprehensive care which is available to the global community. Or there may be a clinic in a state or an individual country. At the very least, there may be a specialist (usually a medical geneticist) who has cared for at least one person – yourself or your own child. So, let’s now discuss the different questions that often arise for rare disorder and syndrome clinics.
How are these multispecialty clinics formed?
What does it take to create one in your state or country?
What are the restrictions that can limit these clinics?
What support can you obtain from a center of excellence, regardless of where you live?
Finally, when a clinic is not available nearby, can you create a personalized care plan that fulfills most of your needs?
Let’s take it one step at a time.
Creating A Multispecialty Clinic
A clinic or center of excellence needs a leader, usually the person who founded the program. You might be surprised to learn that most rare disorder clinics are created and run by volunteer consultants. Providers do not receive additional time, staff, or salary support. Instead, these are empowered by passionate clinical researchers. Rare disease communities are usually small, which means securing funding from a private hospital, academic institution, or public healthcare resources can be a challenge.
Dr Sofia Douzgou Houge, Senior Consultant, Department of Medical Genetics, Haukeland University Hospital, Norway, has worked in several European countries and observed this firsthand. “It has been extremely difficult in European hospitals to coordinate the presence of three to four high grade consultants at the same clinic. The hospitals regard this as a significant expense considering the rarity of the condition.”
Dr Angela Lin, Co-Director of the Myhre Syndrome Clinic, at MassGeneral Hospital in Boston, agrees, “Everything I do in the Myhre clinic is on a voluntary basis. When I’ve spoken to geneticists at different locations, they also confirm that they do not receive hospital or salary support. This is a volunteer labor of love for the entire team”.
Simply put, when budgets are created, rare disease clinics which evaluate a handful of patients are always going to struggle when it comes to prioritizing funding. Because rare disease communities are usually small, it is hard to gain visibility. People living with a rare syndrome and their providers may find themselves caught in a frustrating cycle - small numbers may not receive funding, but funding is needed to identify more patients. It falls to doctors who are willing to devote their time on a voluntary basis, and often communities of rare disorders find themselves raising funds to support these clinics with extra staff and resources.
Multispecialty Clinics: The Who, What, Where and How
Who will see the patients?
The clinic needs a director, someone at the helm of the “ship”, who may realize that a partner or Co-Director will create stronger leadership. Whether alone or as partners, they recruit physicians and other specialists to evaluate and care for people with the disorder. Dr. Lin often feels like the manager and coach of an elite medical team asking colleagues from pediatrics, adult medicine, and diagnostic radiology to staff the clinic.
What kind of visits are offered & where are patients seen?
Main hospital
If travelling to a clinic is feasible, an initial phone or video call will take place to establish the needs of a patient. Then a schedule will be put together to take place over two to four days for initial assessments and discussions. Other centers may try to have all the specialists see patients on a single day, but this is an enormous challenge to organize. And usually, a child will be fatigued after three examinations.
Satellite clinic
Many specialists travel to smaller hospitals away from the main institution. Although this is more convenient for the patient, the physician might be limited by the resources at the local hospital. In general, a multispecialty clinic is based only at the “home” hospital. But a geneticist might have a satellite clinic where follow-up can occur.
Telemedicine (Virtual visit)
What if a physical meeting is just not possible? During Covid-19, MassGeneral Hospital temporarily granted doctors who participate in the Myhre Clinic in Boston the opportunity to see people virtually. This practice ended in June 2021. Dr Lin reflects “These visits were very successful, but they were a temporary measure. They allowed us to suggest the care plan, which was a great start. However, a single virtual visit is not sufficient for those we have seen to become ‘our patients’. We still need the in-person visit to complete the full evaluation.”
Remote Second Opinion
An alternative option is an Online Second Opinion where the patient or family provides specific questions for consultation. The process is supported by your local physician who will provide medical information and records. After the records are reviewed, there is a full report that is completed within two weeks from the specialist you have selected for your Second Opinion. This can be particularly useful if consideration is being given to a specific care plan or procedure.
How are the encounters funded?
Depending on the country you live in, visits are either funded by insurance (in most cases), by the hospital or institution (rarely) or self-funded (rarely). It is always worth looking into what support for funding there might be in your country to assist you in visiting a specialist clinic.
How do providers share information with local caregivers?
The role of the clinic is to impart knowledge learned from the number of people they have seen with the same condition. In addition, they try to be a partner to local care teams. Once a patient has been seen in person, they become part of the Myhre Clinic patient cohort at MGH, but Dr Lin believes a partnership is key.
“Working with local teams and doctors is so important. We strive to have open dialogue with our patients’ doctors to work together on the best care plan. We have seen 40 Myhre patients in the Boston clinic but there is still lots to learn about Myhre. It’s important that the local care team receive help for the day-to-day care. Our reports are educational for families and providers.”
Dr Lois Starr, Clinical Geneticist and Associate Professor of Pediatrics, at the Munroe-Meyer Institute in Nebraska agrees “Seeing a cardiologist from a clinic is great for the expertise, but you also need to see your local provider for care close to home.”
EURORDIS, created a paper on understanding the public health priority for rare diseases and discussed the multifaceted approach needed for rare conditions. “Patients and families together with health professionals – doctors, scientists and healthcare providers – are co-producing a knowledge base.”
Dr Starr recognizes this isn’t always easy.
“There are restrictions for patients with any rare condition when it comes to seeing experts. Primarily there is cost, then the time needed, and as doctors, our restrictions on privileges – I wish I could get an exemption to see rare disease patients outside of Nebraska!”
To share knowledge and move forward research the Myhre Syndrome Foundation has a Professional Advisory Board (PAB) made up of doctors from around the world who work with Myhre patients. They meet each month to discuss updates and are working to write a set of guidelines that will be accessible for all.
Can providers give advice to anyone?
This raises an important point that can often be misunderstood. Why can’t doctors give advice about you or your child, especially if they are experts about the condition? Why does it matter if they haven’t seen you in person?
Physicians in the United States are not allowed to give medical care outside of their state unless they have seen you or your child in person. They can help direct you to find a specialist. In addition, many doctors will speak with your local doctor if you give permission. Specific advice and treatment plans aren’t an option until the in-person evaluations are completed, and this is when someone becomes an official patient of the clinic. This can be hard to hear when you are desperate for answers but taking a step back, the laws exist to provide you or your child with the very best care and treatment.
With Myhre Syndrome we know there is a spectrum of symptoms and that almost every person has different challenges. These need very careful consideration and a holistic approach that can only come with an in-person meeting.
How is research conducted?
Research can involve clinical observations, or basic science laboratory studies. Clinical research varies greatly from the single patient “Case Report” to a large “Case Series”. Laboratory research involves experiments focused on the cause and mechanism of the disease. We will devote a future article to research and the search for treatments.
The Future
When there are only a few clinics that can provide expert care, and you live a great distance, it can be frustrating. Doctors in the Myhre Syndrome international community understand and wish that every country had at least one resource. Dr Douzgou Houge says “I do not want this information to weigh heavily on affected families, but I do think that it helps to gain a better understanding of the issue attached to starting a clinic, but there are areas we can work together to achieve progress.”
Myhre knowledge via the patient registry
It helps to count the number of patients and their features. The Myhre Syndrome Patient Registry was created to fulfill that goal. It expands on the data collection that one parent can do. Once the details of a patient are on the secure database, researchers can spot trends and see patterns that can kick start new research avenues and grant applications. For rare conditions like Myhre, where numbers across the world are so low, patient information is crucial not only for research but for clinics too.
Myhre knowledge via experienced doctors
This year the Directory of Myhre Doctors & Clinicians was launched that gives details on medical teams who are experienced in treating Myhre patients. The more patients they see, the greater opportunity there is to create other clinics and hubs across the world.
In summary Dr Lin concludes “We’re all working as hard as we can to find answers and support patients with Myhre Syndrome. Yes, there are restrictions we must adhere to for everyone’s sake, but please know there is a lot of work going on behind the scenes and we always share when possible”
You can learn more at the Myhre Syndrome Foundation website, where in the Resources section you will find an online library of research papers and summaries, updates from the PAB and 22 videos available across a wide range of disciplines from the speakers at the 2021 Myhre Syndrome Foundation Virtual Conference.
References
EURORDIS. Rare Diseases: Understanding this public health priority. http://www.eurordis.org/publication/rare-diseases-understanding-public-health-priority
From the NIH, advice to providers
https://rarediseases.info.nih.gov/Guides/pages/122/caring-for-your-patient-with-a-rare-disease