Symptoms of rare diseases // Drug Repurposing

Symptoms of rare diseases

Rachael Fleurence headshotWhen you go to the doctor complaining of pain, numbness, lethargy, or other troubling signs, you expect to come away with a diagnosis and treatment plan. But some combinations of symptoms leave the doctors scratching their heads. If the problem is so uncommon that most doctors have never encountered it before, either personally or in the medical literature, it may take years for the patient to receive a correct diagnosis—and even then little may be known about appropriate treatment.

On the last day of February, PCORI joins organizations around the world in recognizing Rare Disease Day to raise awareness of uncommon diseases, their impact on patients’ lives, and the need for research to find and improve treatment options. Among the goals of Rare Disease Day are to strengthen the voice of patients and patient advocacy groups, provide information, promote equal access to care, and highlight the search for new therapeutics. Rare Disease Day was first observed in 2008 on February 29—the least common day of the year. This year Rare Disease Day focuses on encouraging everyone in the rare disease community to join together for better care, an idea well-aligned with PCORI’s outlook.

Major Public Health Impact

Rare diseases are surprisingly numerous. About 7, 000 different types have been identified in the United States. Defined as affecting fewer than 200, 000 people nationwide, rare diseases grouped together affect 30 million—or 10 percent of—Americans. (That’s similar to the number with diabetes, both diagnosed and undiagnosed.)
Rare diseases are often genetic and can appear at any stage of life. They can be severe, chronic, progressive, disabling, or even fatal.

Most rare diseases have no effective therapy, and when treatments are available, they can be extremely expensive. About half of rare diseases are diagnosed during childhood, so they affect the patient for decades. But insurance frequently fails to cover long-term supportive care.

Sarita Wahba headshot

Rare Diseases Represented in the Patient-Powered Research Networks


Aicardi Syndrome

Alström Syndrome

Dravet Syndrome

Duchenne and Becker Muscular Dystrophy

Dyskeratosis Congenital

Gaucher Disease

Hypothalamic Hamartoma

Inflammatory Breast Cancer

Joubert Syndrome

Klinefelter Syndrome and Associated Conditions

Juvenile Rheumatic Disease

Lennox-Gastaut Syndrome

Metachromatic Leukodystrophy

Phelan-McDermid Syndrome (two networks)

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LOL - so true. All of a sudden after reading

by GigiLaPug

WebMD I come down with like 9 fatal and incredibly rare diseases whose symptoms are slight but important to I looked up eczema (which I have on my hand) for additional ways to combat it, and ended up thinking I had skin cancer for a week b/c sometimes basal cell cancer can be mistaken for eczema, and all the pics looked like my hand. After a week of panic, I went to the dr for a test...nope I just have nasty crusty eczema. I don't look on WebMD anymore for precisely that reason :)

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Pigeons and other Pest Birds often make nests in buildings and rapidly reproduce. Breeding occurs throughout the year, usually taking place between March and July. Contact with pigeon droppings may pose a health risk. Three human diseases are known to be associated with pigeon droppings: histoplasmosis, cryptococcosis, and psittacosis.
Histoplasmosis is a disease caused by a fungus, which grows in pigeon droppings. It also grows in soils and is found throughout the world. When cleaning droppings a person may breathe in some of the fungus, which in cases of high exposure can cause infection


by PM

One of the difficulties of properly diagnosing Addison’s disease is the common waxing and waning of symptoms. Karen Ivin, DVM, says that she always considers testing for Addison’s disease with dogs who “have their ups and downs. When they aren’t quite right, but aren’t all the way sick either.”
Dr. Ivin has a small, housecall-oriented holistic practice in Gilbert, Arizona. Although Addison’s is often described as “rare,” she is treating several dogs with Addison’s disease, and has always had a couple among her clientele at any given time. She thinks that any vet who doesn’t have at least a couple of dogs with Addison’s in their practice just isn’t seeing it

I believe

by gp_smom

Hypothyroidism is extremely rare in toy breeds. Besides the pattern of hair loss (on the dorsum), is more consistent with flea allergy dermatitis (or did i misread what the OP had said?).
That said, I would still think about hypothyroidism/ other hormonal diseases if the hair doesnt grow back or if there are other symptoms.

RR says there is no such thing as autism

by 13_togas

"Spectrum disorders, to be blunt, are bullshit diagnostic labels applied to people who present symptoms which are only suggestive or symbolic of actual rare, florid diseases and maladies. Examples are ADHD, dyslexia, post-traumatic stress disorder (PTSD), autism, sensory processing disorder (SPD), bipolar disorder, panic disorder, anxiety disorder, and depressive disorder, to name a few."

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