I came across this article on CrowdMed today.  It is written by Jean Jahoor and she meant for it to help people who are newly diagnosed with a rare disease.  She did a great job and lays out instructions in an easy-to-understand  and in a well-organized manner.  If you put the words, ‘your child’ wherever it says, ‘you’, this would be a wonderful instructional guide for when you are told that your child has a rare disease.  Not only a rare disease.  It would be helpful for any parent with a child with a chronic illness.  It is not uncommon for to be given the wrong diagnosis at first in either case.  For a child with a chronic disorder, it takes an average of eight years to finally receive a correct diagnosis.  I think that if we used this information, it could possibly help us and our children to have a true diagnosis and be on treatment much sooner.

What To Do After You’ve Been Diagnosed With A Rare Disease

by Jean Jahoor

Rare diseases, also called ‘orphan diseases’ are diseases that affect only a small number of people in the population at any one time. In the US, a disease is classified as ‘rare’ if it affects fewer than 200,000 people in a given time period, and in Europe if it affects less than one in 2,000. There are approximately 6,800 such diseases according to the National Institutes of Health (NIH).

Because most rare diseases can cause changes requiring major lifestyle modification (depending on the severity and prognosis), there are several steps you can take to find a solution or to help you cope better with your new situation.

Make sure your diagnosis is correct

The first and most important step is to make sure that the diagnosis is correct. Make an appointment with a medical clinic or a specialist who has knowledge and experience in diagnosing and treating your condition. For assistance in finding such a specialist you can go to and click on ‘How to find a Disease Specialist’. The Mayo Clinic, Cleveland Clinic and University of Washington Clinic are three good options. Take a list of your symptoms, previous medical records (MRI, X-Ray, lab results etc.) and any questions you may have. Tell the doctors your whole story and don’t be afraid to discuss all of your symptoms with them (even the embarrassing ones). Sometimes the smallest bit of seemingly ‘insignificant’ information can provide the biggest clue to the rare disease mystery.

Work towards acceptance

Once you’ve verified that the diagnosis is correct, it is important to take a little time for reflection to come to terms with your new reality. Once you’ve been diagnosed, the disease is no longer ‘rare’ for you and it is not unusual for the mind to run a gamut of emotions like denial, guilt, anger, depression etc. This is normal, and it is necessary to make peace with these feelings. Work towards accepting and maintaining control over your situation. If possible seek help from the people you trust and respect such as your pastor/rabbi /priest, family members, friends, or try to get psychological counseling from a competent health care provider such as a psychologist or psychiatrist.

Educate yourself about your condition

Learning everything you can about your condition is the next important step in your journey. This is one of the times when the Internet is your friend. Never before has there been so much information available in one place about rare diseases and diseases in general. At first it is better to look for information on reputable sites such as the Genetic and Rare Diseases Information Center (GARD), or

These sites provide the most accurate and recent scientifically proven data. They also provide a wealth of other kinds of information, and useful links to assist you in your search. GARD provides information both in English and Spanish. Other sites, such as Alternative medicine sites and patient chat rooms, are also good sources of information but you need to be wary since some of them contain inaccuracies that could contribute to unnecessary fear or cause harm.

List everything that pertains to your case and try to understand as much as you can, especially about the different treatment options, cost of treatment, and availability of insurance, prognosis and alternative course(s) of action. Once you have armed yourself with these, you will feel more empowered to develop a plan.

Some suggestions for the areas you need to focus on are:

What is already known about the disease?
What has been written about the disease in medical journals
What Research studies are ongoing
What advocacy groups you can contact
Do the doctors or healthcare team treating you communicate with each other
The next step in your plan

The National Organization For Rare Disorders (NORD) is an excellent organization that acts as an umbrella organization for rare diseases. NORD was founded on May 4, 1983 and provides help and support for all Americans affected. In 1987 NORD established a patient assistance program aimed at helping patients to get medications that they cannot afford. In 2000 the NIH created the website Clinical which provides an overview of drugs currently in clinical trials. These are important resources for people who are faced with the task of finding drugs that are difficult to obtain, or drugs that are too expensive.

Support Groups

Since rare diseases affect only a small number of people, patients often feel lonely and isolated after diagnosis. Joining support groups is a great idea since it puts you in touch with people who are dealing with the same issues, and are confronting problems similar to yours. The more people share information, the more knowledge about the disorder increases.

In addition to the comfort of knowing that you are not alone, members of support groups can provide pertinent information such as best doctors, treatment options, insurance plans and what to expect. Members often describe their own experiences and have real empathy for the newly diagnosed. The ability to remain anonymous is a plus since it ensures that you can participate in frank discussions and maintain your privacy at the same time. NORD has created an ‘Online Patient Communities’ portal with a comprehensive list of rare diseases from which you can select groups with the most relevant information that applies to your disorder.

The Future of Rare Diseases

The good news is that more effort is being made to address the subject of rare diseases than ever before. Because of advances in molecular medicine, many of the rare diseases caused by genetic factors are being better understood.

Molecular research on cystic fibrosis, sickle-cell anemia, Niemann-Pick disease type C and Fragile X syndrome are currently in progress.

Celebrities are taking up the cause, for example actor Michael J. Fox created a foundation that funds research to find a cure, and to develop new and improved therapeutic interventions for Parkinson’s Disease. Robin Roberts (TV news personality) aired a video of her battle with myelodysplastic syndrome. Her treatment (bone marrow transplant) and subsequent recovery from this disease is believed to have caused an increase in the number of bone marrow donations.

On February 28, 2008 a special day was established by a group called EURORDIS in Europe to bring attention to rare diseases and to improve treatment for patients by encouraging investment and research in this field. Today, Rare Disease Day is celebrated worldwide and the 8th Annual Rare Disease Day was celebrated on February 27th, 2015 at the National Institutes of Health.

This is a huge step in the right direction since this problem is now viewed as a serious one and is being addressed on a global level. Hopefully, this new emphasis on rare diseases, advances in technology and molecular biology, and physician and patient empowerment will make it easier to diagnose and treat these disorders that have caused so much suffering for so many people, for such a long time.





  1. Awesome information here. Thanks. I wish all this information had been available 40 years ago for my doctors and for me. At least it is there now for my kids and grandchildren.

    Through the years I have had to teach many of my doctors about my disease as well as teaching my children’s pediatric doctors. It gets old fast. After the NIH got online with their information I started directing doctors to that site for further information.

    Liked by 1 person

  2. Good information here, even for adults. I was diagnosed with a rare (very) disease four years ago. I was told that less than 2% of the population have this disease. It is called Lambert-Eaton Mysathenic Syndrome, an autoimmune disease developed through breast cancer the year before. While the doctors at Emory are pretty certain I am correctly diagnosed, it is still a struggle. Now it is chronic and will be with me the rest of my life. I did call Mayo Clinic two years ago but they want their own doctors to evaluate the person. I can not travel long distances and not mobile enough to do so. Plus, the fatigue and exhaustion. Thanks for the article.

    Liked by 2 people

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