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September 22, 2023

Don’t overlook challenges of rare diseases

Kudos to state Senator Bill Monning who has introduced a resolution to the state Senate recognizing the last day of February as Rare Disease Day in California, coinciding with a similar national observance. This action should help to inform the public about the challenges faced by those living with rare diseases.
There are approximately 7,000 rare diseases that have been identified, which in reality, involve a very limited number of people. A rare disease is defined as one that affects less than 200,000 (and usually considerably less) people in the United States and where treatments and cures are equally rare, mostly because of lack of interest and funding.
I thought I would describe a few interesting sounding rare diseases from A to Z, most of which even I myself have never heard of (much less am able to spell):
Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, facial abnormalities, musculoskeletal and genital defects, and mild intellectual disability.
Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel disorder that affects the skin and internal organs of the body.
Dysplasia epiphysealis hemimelica, is a rare skeletal developmental disorder of childhood.
Fibrodysplasia ossificans progressiva (FOP) is a very rare inherited connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present, such as the ligaments, tendons, and skeletal muscles.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder that affects men predominately and is characterized by hardening of the skin in various parts of the body.
Olivopontocerebellar atrophy (OPCA) has historically been used to describe a group of disorders that affect the central nervous system and cause a progressive deterioration of nerve cells in certain parts of the brain.
Paroxysmal nonkinesigenic dyskinesia (PKND) This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions.
Trismus-Pseudocamptodactyly syndrome is a very rare inherited disorder characterized by the inability to completely open the mouth causing difficulty with chewing and/or the presence of abnormally short fingers.
Zollinger-Ellison syndrome (ZES) is characterized by the development of a tumor that secretes excessive levels of a hormone that stimulates production of acid by the stomach which can cause stomach ulcers or cancer. By the way, Dr. Ellison, who discovered this syndrome, was the chief professor of surgery during my days attending medical school at The Medical College of Wisconsin.
These are but a few interesting sounding rare diseases from which a limited number of people are afflicted. But for those unfortunate ones who are, and because of being so rare, treatments or cures are not easy to come by. Again, thanks to Senator Monning whose resolution could create a better awareness of rare diseases and increase desperately needed research.


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