Healthcare Provider Information

RELATING TO YOUR HEALTHCARE PROVIDERS

Once you have achieved a diagnosis, it is important to find an experienced healthcare provider with training and expertise in the management and treatment of your disease. These providers have the most up-to-date knowledge and information about the most effective treatments as well as current research and clinical trials.

It sometimes can be challenging to find specialists for rare diseases, especially for people who do not live near major academic medical centers. However, resources are available to help in your search for providers.


Finding an Experienced Provider for your Disease

Once you have achieved a diagnosis, it is important to find an experienced healthcare provider with training and expertise in the management and treatment of your disease.

These providers have the most up-to-date knowledge and information about the most effective treatments as well as current research and clinical trials. It sometimes can be challenging to find specialists for rare diseases, especially for people who do not live near major academic medical centers. However, resources are available to help in your search for providers.

Following are resources, including those recommended by the National Institutes of Health (NIH) Genetic and Rare Disease Information Center (GARD) website, for locating a healthcare professional for your disease

Disease Advocacy Organizations

Many of these organization have physician locator services or patient networks that may help you find a healthcare professional who is familiar with your condition. Some may also have a list of doctors recommended by their members. Also, medical advisory boards for these organizations are comprised of experts in the field. Sometimes, disease advocacy organizations establish Centers of Excellence for their condition; contact a support organization to determine if they are familiar with a Center of Excellence.

• To find disease advocacy organizations, the NORD website provides a library of information for more than 1,200 rare diseases, including national and international advocacy and research organizations for each disease.


• Also, the National Institutes of Health (NIH) Genetic and Rare Disease Information Center (GARD) website contains an easy-to-use search tool that lists national and international advocacy organizations for specific diseases


• The Genetic Alliance website also contains a list of advocacy and patient organizations for specific diseases.

Major Teaching Hospitals and Academic Health Centers

These institutions are often located in larger cities and metropolitan areas. They are more likely to have medical staff with expertise in the treatment and management of rare diseases and physicians involved in clinical trials.

Clinical Genetics Centers

Genetics professionals can be a valuable source of information for people with rare diseases and their families. The following organizations and websites are good sources of information:

The American College of Medical Genetics and Genomics – Features a Genetics Clinics Database to assist with locating a U.S. genetics center. LEARN MORE.

The American Society of Human Genetics (ASHG) – Professional organization of research and clinical geneticists that maintains a database of its members, some of whom live outside the U.S. Some geneticists listed may be researchers only and may not offer medical care. LEARN MORE.

The National Society of Genetic Counselors – Features a database of genetics counseling services that are searchable by location, name, institution, type of practice, or specialty. LEARN MORE.

MEDLINEPlus – Website maintained by the U.S. National Library of Medicine that provides a link to various websites and directories to assist in finding health professionals, services, and facilities. LEARN MORE.

Medical Researchers

These professionals can be a helpful source for identifying an expert for a specific disease. Frequently, researchers conducting clinical trials are medical doctors who may also see patients who are not enrolled in a study. These physicians may also provide a referral to a colleague who sees patients for a specific disease.

The following organizations and websites are useful in locating medical researchers who may be helpful:

The Rare Diseases Clinical Research Network (RDCRN) comprises 22 distinctive consortia working to improve the availability of rare disease information, treatment, clinical studies, and general awareness for patients and the medical community. The RDCRN is focused on providing up-to-date information for patients and connecting them with advocacy groups, expert doctors, and clinical research opportunities. LEARN MORE.

The Centers for Mendelian Genomics is a research program that focuses on discovering causes of rare genetic disorders. LEARN MORE.

ClinicalTrials.gov is a website that was developed by the U.S. National Institutes of Health (NIH) through the National Library of Medicine. The purpose of the site is to provide clinicians, patients, family members, and the public with current information on clinical research studies in the U.S. This resource may be helpful in locating researchers who are studying a specific condition. A basic search can be conducted using the condition name as the search term; click on a study to review the eligibility criteria and obtain the study’s contact information. LEARN MORE.

The Patient Recruitment and Public Liaison (PRPL) Office at the NIH provides information about opportunities to participate in research conducted at the NIH Clinical Center Hospital. You may call the PRPL office toll-free at 1-800-411-1222 or send an email to prpl@mail.cc.nih.gov to ask about clinical trials being conducted for a specific disease and contact information for research involved in these trials.


What to Consider when Looking for an Expert

One of the challenges in dealing with a rare disease is that there may be very few clinicians who have experience with providing care for affected individuals. Often, patient advocacy groups for specific conditions list centers of excellence for care of the disorder.

However, it is possible that there will be only a few such centers for some conditions. It may not be practical to be seen or followed at a site that is distant from home and not covered by a person’s insurance. When considering a specialist, you should feel you can build a rapport with the clinician.

Here are a few other points to consider in selecting a specialist:

  • Have they cared for patients with this condition before – and, if so, how many?
  • Do they participate in clinical trials or clinical research on the disorder?
  • Have they published studies on the disorder?
  • Are they affiliated with a relevant patient support group?

The Value of having a Medical Home

Most people with rare diseases have complex healthcare needs that often require the coordination of multiple specialists and diagnostic tests. A medical home, where patients have a dedicated provider and healthcare team, is an important way to ensure that care is coordinated among the various specialists involved in providing care.

The clinic in which your disease specialist and healthcare team provide care may serve as your medical home. This works best if the clinic is located close to where you live. If your disease specialists are located out of town or in another state, the best option for your medical home is probably the primary care physician and clinic in the city where you live.

In either case, a medical home is a place where a disease specialist or primary care physician can follow patients consistently over time and coordinate care with specialists as needed. This is the best way to ensure that patients receive consistent care from a dedicated healthcare team who is familiar with the rare disease diagnosis and health challenges.

The benefits of having a medical home include:

  • Patients have a relationship with a personal physician
  • A practice-based care team manages your ongoing healthcare needs
  • Care is coordinated across care settings and specialists
  • You have enhanced access to and communication with your healthcare providers

Keeping a Personal Medical Record

Many people with a rare disease diagnosis visit multiple doctors as part of the treatment and management of their disease.

As a result, keeping track of personal medical information can be a challenge. However, accurate record-keeping is important for ensuring successful management of your disease. It is also an important way to enhance communication of timely information with your healthcare providers.

The best way to accomplish accurate record keeping is to maintain a personal health record (PHR). This document allows you to gather and manage all your health information in one easily accessible location.

Electronic Personal Health Record

Most health providers these days use electronic medical record systems to record information about medical tests and visits.

Unfortunately, these rarely communicate between one health system and another. If a person is seen by health providers at different institutions or private practices, the medical records at one are usually not visible by the other.

Many electronic health record systems include an online portal. This allows a patient to see some of their medical information and test results; they can print or save them as an electronic copy to share with other providers. Patients can also provide a signed release of medical records form that authorizes a provider at one practice to send or fax medical records to the other.

That said, it is often a good idea for a person with a rare disorder to keep a personal file of relevant medical information. These can be kept in electronic form or as paper records. Imaging studies can be copied onto CDs and shared with providers as needed.

You may wish to include the following information in your personal health record:

  • Information about your diagnosis, including the date you were diagnosed, copies of imaging or other diagnostic tests, and pathology/laboratory reports
  • Complete treatment information, including start and end dates as well as results
  • and any complications/side effects
  • Details of past physical exams, including relevant clinic notes, laboratory reports, and diagnostic testing
  • Current immunization records
  • Dates and details of other major illnesses, chronic health conditions, and hospitalizations
  • Contact information for the doctors and clinics involved in your diagnosis and treatment
  • Information about your family medical history
  • List of current and previous treatments, procedures, and medications
Keeping Up-To-Date Medical Records

Following are a few strategies that can be helpful in collecting the latest copies of your records on an ongoing basis:

  • Ask your doctor or nurse for a copy of the results or report any time you have a diagnostic test or procedure
  • At each appointment, ask your doctor or nurse for a copy of any clinic notes added to your file or electronic medical record
  • Use a secure online patient portal to access your current medical records
  • If you spent time in the hospital, request a copy of your records when discharged
  • Keep copies of medical bills and insurance claims as they occur
  • Talk to your doctor for guidance about what records to include
%d bloggers like this: