DEAR DR. BLONZ: I was hoping you might spread the word about the National Organization for Rare Diseases (rarediseases.org). When a family member was diagnosed with a rare disease, NORD was the only place that had usable information. After that, I joined the organization.
NORD has pushed for many years to have the government give tax breaks and incentives to companies that develop “orphan” drugs, since rare conditions only affect a small percentage of the population. The group also has a database of all the current clinical studies for rare diseases. -- S.T., Concord, California
DEAR S.T.: I thank you for your note. NORD is an organization I became familiar with after a minor outpatient surgical fix resulted in a short-term total paralysis, which had the doctors stumped and my family climbing the walls with concern.
The procedure was a non-urgent repair of an umbilical hernia -- in other words, my bellybutton was not adequately anchored in the abdominal muscle wall. Typically a routine fix, this procedure requires a general anesthetic. But when I slowly awakened from anesthesia, I realized I was in a state of total paralysis: unable to move any muscle or even open my eyes to signal that I was awake. There was a tube still in place, breathing for me. How’s that for a rude awakening?
They use a ventilator tube to keep the airway open as part of this surgical procedure. A drug called suxamethonium chloride (Anectine) had been used to relax my muscles, particularly those of the throat, during the tube’s insertion. Because of the general anesthetic, I was already “out” when the Anectine was administered.
The body has an enzyme that breaks down this muscle-relaxing substance in a matter of minutes. But unknown to me, the anesthesiologist and the surgeon, this particular enzyme is deficient in my body -- so the muscle-relaxation effect lingered. After a lot of anxiety among family members in the waiting room and head-scratching by the doctors, they thought this deficiency might be the issue.
Needless to say, it was an ordeal, as I remained locked in my body, not knowing what was going on -- not to mention the discomfort of the breathing tube and all the health professionals hovering over me. I was awake and heard them talking. I desperately tried to send them a signal that I was awake. Focusing all my efforts to get my foot to move, I finally got it to jerk. One of the nurses noticed it and commented, but it was dismissed as a muscle twitch. “No, I am here!” I recall screaming in silence.
After a few hours, the effects finally began to wear off. Awake and back home, I began to look around for more information, and NORD was one of the few places that discussed “pseudocholinesterase deficiency” (the name of my condition). It can have a genetic element, so I encouraged my family members to be tested. I now have this condition listed on all my medical records for any health professional who might inquire. I have also registered with MedicAlert (medicalert.org), an organization that can provide medical info when we cannot speak for ourselves.
Stay well, stay informed, and be sure that health professionals have all the information needed to care for you and your family members. NORD, MedicAlert and proactively maintaining your online medical records all have my solid support.
Send questions to: “On Nutrition,” Ed Blonz, c/o Andrews McMeel Syndication, 1130 Walnut St., Kansas City, MO, 64106. Send email inquiries to firstname.lastname@example.org. Due to the volume of mail, personal replies cannot be provided.