Dear Clinician,

You may see a Rare Disease patient today.

According to the NIH, over 25 million adults and children are living in the US with one of 6,500 different Rare Diseases​ (1).

Your patient may be undiagnosed.

Many Rare Disease patients have yet to be recognized. Rare Disease patients surveyed in the 2014 Shire Rare Disease Impact Report, report seeing 6 to 8 different doctors, over 7 to 8 years, before their Rare Disease was correctly diagnosed! Your patient may arrive in your office frightened, frustrated, or in pain; having visited multiple doctors searching for the reason behind troubling medical symptoms.

 
 
You may find you are not able to diagnose your patient either.

In this case, you may need to send him/her on for more consults and procedures, and your patient and family will likely be weary and disappointed. They may be angry and upset; try not to take it personally. It is the result of many fruitless attempts to find help and answers and is not truly directed at you. You may likewise feel frustrated that you cannot help your patient.

Perhaps you will be the one to find the Rare Disease diagnosis.

Maybe you will be able to diagnosis your patient; finally providing answers after years of searching for help! Your first reaction may be one of triumph, since you have solved a significant mystery! But this will be short-lived, when you realize most Rare Diseases have no cures, and according to the NIH, only a few hundred have any type of treatment. You will have to explain this to your Rare Disease patient, along with the fact that answers are not likely to come soon, as very few people in medical research are interested in expanding the dismal prospects for Rare Diseases.

You may not know where to send your Rare Disease patient and family to find help.

You may feel frustrated for your patient, realizing there are few national or state resources to help physicians treating patients with Rare Diseases, and your patient and family will face many obstacles to appropriate medical care.

 
 

RNE understands the many limitations facing New England's Rare Disease patients and their medical providers. We are here to help your patients find appropriate resources to enable the best care and quality of life possible.

RNE gathers information from New England's state programs, as well as regional and national patient advocacy groups, community services, and New England's multiple medical centers. We guide patients and families to different New England programs appropriate for their circumstances and connect them with existing patient advocacy groups and organizations specific to their Rare Disease diagnosis.

RNE offers support meetings, and special events with educational opportunities aimed at empowering patients and families to achieve well-coordinated medical care, with a good quality of life. We offer patients and families a listening ear, and will try to connect them with others in their area facing similar medical challenges.

RNE is happy to answer any questions about our mission and goals in helping patients and families. Please contact us with any questions you have, and feel free to look through our site for more resources.

Sincerely yours,

Julie Gortze, RN
Founder/Director, RNE
Julie@rarenewengland.org

References

  1. “FAQs About Rare Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program.” Accessed July 16, 2020. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases.