Calling on Nurses: Adopt An Orphan (Disease)
Submitted by Michael C. LaFerney RN,PMHCNS,BC
Tags: Nurse Education patient care rare disease
As a nurse with years of practice on the medical unit you've seen and treated a lot of illnesses. You just received a new 23 year old patient on the unit and he is diagnosed with Behcet's disease. He has multiple mouth ulcers, is having visual issues and has been diagnosed with a blood clot in his leg. You wonder “What is Behcet's disease-I've never heard of this-never studied this in nursing school? You are a pediatric nurse and an 8 month old is brought in for evaluation because there is lack of babbling and crawling and had just suffered a seizure. No issue were seen at birth. He is worked up and because of the developmental delays a genetic disorder is suspected. After testing is done the the child is diagnosed with “ Angelman syndrome” The nurse wonders what the treatment will be, and “what is the prognosis- I've never seen a case of this? Have you ever seen a patient with these illnesses? Chances are pretty good your answer is “NO” These are considered rare diseases-one of 10,000 that affect more than 30 million Americans. (1) Many have no cure or must be managed symptomatically. Many are a genetic disorder- a health problem caused by one or more abnormalities in the genome. Alot of these have no understood known cause. To have one of these is can be frightening for patient and families. Because they are rare most health care providers have never heard of them and due to the rareness many pharmaceutical companies do not want to invest money in drug development for them as they are seen as unprofitable. Many of the patients with these disorders may look”fine” but are dealing with a very debilitating illness. An example is Myalgic Encephalomyelitis – known as Chronic fatigues syndrome. This illness affects 0.4 per cent of the population. (2)There is no specific test for it and practitioners may mistake it for some other illness as depression or Fibromyalgia. Some affect one sex more than the other or may be equally seen in both. Some have a more severe prognosis for one sex over the other. So given that you as a nurse might never see a case of these rare diseases why should you be concerned about them? There are several reasons. First by studying these diseases nurses will learn a lot. Patients with chronic diseases use many medications you can learn. Some are common but many are off label or new. Many of these illnesses while rare may be in a class of more common disorders. Behcet's disease is considered a vascular disease. By studying it you can learn about many medical conditions. It affects the eyes causing inflammation in the back of the eyes and can damage the retina which can lead to blindness,.You will learn ophthalmology nursing care and treatment. It causes ulcers and sores. Medications as Dapsone are used . You will improve your knowledge of dermatology. It causes joint pain and discomfort similar to muscle and arthritic disorders. It can cause neurological symptoms and patients suffering it may develop many psychiatric disorders as anxiety and depression. Since it is a painful disease patients use various classes of medication which can lead to addiction. Some develop tinnitus -ringing in their ears. Mouth ulcers and lead to dental disease. There are other symptoms. Sounds pretty bleak but patients with symptom management can often live full and productive lives. Studying this one illness can provide a wealth of knowledge on treating many related more common illnesses and symptoms. Have you ever wanted to be considered an Expert on a topic? Many nurses specialize in areas as mental health nursing or pediatrics for example. By learning a rare disease you will know about something most others don't know and will be in demand to share this knowledge. In-services can be provided. It will be new information for nurses. Something they didn't learn about in nursing school or in daily practice. They may never see a case of your adopted rare disease but the information might be helpful understanding the area of nursing they practice and might encourage them to learn about a rare disorder they can be an expert in. And if by chance a patient with one of these disorders comes to your unit you will be a valuable resource for them and the staff. Angelman Syndrome affects one in 15,000 people (3) and Behçet's disease has a prevalence of 7 cases per 100,000 people in the USA, which results in 15,000-20,000 affected nationwide. (4) Lastly, because of the rareness or these illnesses patients need hope. Think of those people as your worldwide patients. You can help them by advocating for them. making others aware of their illness, and fundraising for research. You could do an In-service and ask for a voluntary donation that can be given to research efforts or education.. Join and be active if there is an organization advocating for a rare disorder. For Behcet's disease there is the American Behcet's disease Association. If there is no organization start one or start a blog or use other social media outlets to get the “word out” on how people can support these patient who are our families and friends. A list of all rare diseases can be seen at the National Organization of Rare Diseases (https://rarediseases.org/rare-diseases) I am calling for all Nurses to “Adopt one Orphan”disease.”as these rare disease are called. Become an Expert on it for yourself and those who need your help. While you may never meet one personally you will have many grateful friends around the United States (and the world!) (1) NORD Rare Disease Data Base, Taken from the WWW ( world wide web) 31 August 2025 at: https://rarediseases.org/rare-diseases/ (2) (2024) CDC,ME/CFS Basics. Taken from the WWW 31 August 2025 at: https://www.cdc.gov/me cfs/about/index.html (3) Medline Plus, Angelman Syndrome, Taken from the WWW 31 August 2025 at:https://medlineplus.gov/genetics/condition/angelman-syndrome/#frequency (4 ) Cleveland Clinic, Behcets' Disease, Taken from the WWW 31 August 2025 at: https://my.clevelandclinic.org/health/diseases/12980-behcets-disease
References
- (1) NORD Rare Disease Data Base, Taken from the WWW ( world wide web) 31 August 2025 at: https://rarediseases.org/rare-diseases/
- (2) (2024) CDC,ME/CFS Basics. Taken from the WWW 31 August 2025 at: https://www.cdc.gov/me cfs/about/index.html
- (3) Medline Plus, Angelman Syndrome, Taken from the WWW 31 August 2025 at:https://medlineplus.gov/genetics/condition/angelman-syndrome/#frequency
- (4 ) Cleveland Clinic, Behcets' Disease, Taken from the WWW 31 August 2025 at: https://my.clevelandclinic.org/health/diseases/12980-behcets-disease