Everyone loves a little mystery, except when it comes to ominous types of autoimmune diseases.
In an article from Rare Connect, a website that connects rare disease patients globally, a couple tells the story of their little girl.
The little girl was born healthy, and all was going according to plan; until her parents noticed that the umbilical cord hadn’t fallen after a month. Doctors began suspecting that something wasn’t quite right, so they ran tests and diagnosed her with moderate neutropenia.
Neutropenia is a condition where people have an abnormally low number of neutrophils (a type of white blood cell). Neutrophils travel through your bloodstream, move to areas of infection, and release chemicals that kill invading microorganisms.
But later, the same little girl was hospitalized for a fever with no known source for the infection, and the fever was unable to be controlled. She was tested for meningitis, but results came back negative.
Then, another potential answer: mutations R92Q for TRAPS, which was a mutation that her parents had. Nope, wrong again.
Unfortunately, after a period of time where treatment was working, the little girl began breaking out, again, with a fever every couple of weeks.
Now, doctors think it could be a mutation for CINCA/NOMID, a type of Cryopyrin-Associated Autoinflammatory Syndrome.
But there are no definite answers.
Her family wants to share their story because they want as much information about these symptoms as possible. They want to know if there is anyone else out there that can relate to their daughter. They want answers.
For a full look at this little girl’s search for a diagnosis, head over to Rare Connect’s featured story on the mystery autoimmune disease.
