Becoming a parent can be exciting and terrifying in nearly equal measures—along with the thrill, anticipation, and joy, there’s the fear of what could go wrong. Worrying about your child’s health is a natural parenting instinct, and many parents thankfully don’t have to face the worst-case scenarios.
But, sadly, too many parents do have to face the worst case scenarios. And sometimes, those scenarios come in the form of diseases so ultra-rare that parents barely know how to pronounce it, let alone fight it.
One such disease is Carbamoyl Phosphate Synthetase I Deficiency (CPSID). It’s one of a series of disorders that affect the normal function of the urea cycle—in the case of CPSID, patients are born missing all or part of the carbamoyl phosphate synthetase enzyme.
The urea cycle is responsible for converting waste nitrogen in the body into urine. When this process malfunctions, nitrogen accumulates in the blood in the form of ammonia—which is roughly as bad as it sounds, and can cause damage ranging from vomiting and lack of appetite, to coma and death if left untreated.
Even when treated, there can be long-term consequences like developmental delays and learning disabilities. That’s a frankly terrifying prospect for the parents of the approximately one in 150,000 to 200,000 babies born without the CPS enzyme—made even more terrifying by the difficulty in recognizing or diagnosing urea cycle disorders.
So where do you even start learning about something like that?
One of the best places to start is the National Organization for Rare Diseases, or NORD. NORD offers comprehensive information for more than 1,200 rare diseases—including CPSID. NORD’s page for CPSID overviews some of the signs, symptoms and causes, including the genetic risk factor of inheriting the disease. It discusses who’s affected and how they’re diagnosed, and provides a high-level overview of available treatment regimens. And perhaps most valuable of all, it provides links to NORD member organizations and other outside resources that can provide more specialized support and information.
Sometimes, just knowing that someone else understands what you’re going through can provide that extra boost to get you through a rough day.
Inspiration aside, if you need to learn about CPSID quickly the NORD page is a good place to start—and with this disease, moving quickly is absolutely essential.
