Hypoparathyroidism 
         A Rare Disorder and the
             People it Hurts

   

What I saw were people I loved fighting to live normal lives without the help of dependable muscles, unspoiled vision, tolerance for bright light, and the protection and cosmetic value of hair. Neither individual achieved normal height and weight. Each entered adolescence aware that sexual development would be below par. One required speech therapy and other forms of special instruction. Both wore wigs and thick glasses. Going out in the sun with friends was prohibited. Both developed Type 1 Diabetes and thus were tied to insulin shots and tediously careful diets. The list of what they couldn't do is long and depressing. But MC and J were fighters! No way they'd quit!! Thanks to their family, each quickly learned that she was was to do everything she could to help herself. Was not to think about giving up! She knew she was expected to lend a helping hand when others needed it, and to use her God-given abilities to the hilt. If either of them needed anything, they got it. Expense be damned. Inconvenience, be damned. If a person failed to show respect, watch out. Doctors shook their heads and predicted death by early adolescence. M.C. was thirty-six years old when she died; J. over forty. Ultimately, theirs were inspiring stories. But imagine what it must have been like to go through all that.

What I {sort of} know is, Hypoparathyroidism is a rare disorder in which the parathyroid glands, which are charged with regulating blood calcium, don't do their work. There isn't enough parathyroid hormone, so blood doesn't get enough calcium. (Or a person's body cannot use it properly.) This wreaks havoc in form of weakness and muscle cramps. The person's hands may alternately tingle, burn and turn numb. He or she may experience nervousness, memory loss, and foot and wrist cramps. Facial muscles sometimes spasm [Chvostek Sign], and nerves sometimes compress so much that muscles contract abnormally [Trousseaus Sign]. Bad teeth and nails are not uncommon, and pernicious anemia. Skin may be dry and coarse, and pigment may be missing, discolored, and-or uneven. Hair loss alters appearance and exacerbates skin problems. Depression often weighs on people with hypoparathyroidism. You have to wonder how much is due to the disorder and how much to having to endure its symptoms and living in doctor's offices and hospitals [let's not mention the problem of paying.].

The exact cause of hypoparathyroidism remains unknown. It occurs by itself, or as part of a pattern of endocrine gland disorders affecting the thyroid, adrenals, or ovaries. Removal of, or damage to, parathyroid glands triggers hypoparathyroidism or hypoparathyroidism-like disorders. Sadly, they can be inherited. Fortunately, it takes two recessive genes -- one from each parent -- to produce hypoparathyroidism. People who receive only one carry the disease, but seldom present symptoms. The risk of transmitting the disease to their children is said to be twenty-five percent. [More information about genetic issues appears at the NORD site.]

Males and females are equally vulnerable to hypoparathyroidism. It occurs most in children under l6 and adults over 40 [presumably because of the inheritance factor, plus the fact that the older you get, the more likely you are to undergo surgery or develop a related condition.]

Related conditions:

In DiGeorge Syndrome, parathyroid and thymus glands are missing or abnormal. [Re the thymus, think cellular regulation and long-term immunity). Result: complex anomalies that foul up the immune system, thus making the person susceptible to infections. Here again, low blood calcium is the culprit (or its handmaiden?). Infants with low blood calcium are seizure-prone. I confess I am confused as to whether DiGeorge is always the result of two abnormal "pharyngeal pouches" having developed early in utero.

Hypocalcemia comes of too little calcium and too much phosphorous. Symptoms include facial, foot and wrist spasms, muscle and abdominal cramps, & tingling, burning, and-or numbness of lips, fingers, and feet. Some people's larynxes convulse; other body parts may, as well.

Osteomalacia, which mainly attacks adult women, is also due to low calcium. Bones break easily because they are soft and brittle. Limbs, spine, and pelvis hurt, and strength seeps away.

Pseudohypoparathyroidism is a hereditary disorder in which there's enough parathyroid hormone, but the system fails to react properly. Bone growth suffers. Headaches, undue fatigue, weakness and blurred vision are among the symptoms that may plague a victim of Pseudohypoparathyroidism.

Treatment: According to NORD, the standard treatment right now is Vitamin D in the form of ofergocalciferol or dihydrotachysterol. Genetic counseling may be indicated. Otherwise, it is a matter of treating symptoms as they arise, and providing support as available.

Research: Current research focuses on determining the effectiveness and long-term safety of vitamin-D3 treatment. It is hard to drum up funds for any rare condition, and NORD's resources are limited. This means it is difficult to impossible to keep its Rare Diseases Data Base up-to-date.

Resources: NORD provides a list onsite. The address appears below.

 

In conclusion, let me just point out the obvious. It is vitally important that we elect to high office people who are r e a l l y dedicated to improving health care -- and access. Not only in the U.S., but everywhere. The U.S. has vast resources that can be used for good or ill. Who knows how many diseases and disorders are caused by environmental poisoning? Because diet is poor? What role did prenatal care play? Who knows how many children (or adults, for that matter) would thrive instead of becoming sick or dying if every U.S. citizen received equal education and access to the latest medical treatments? Who knows how much time and energy average citizens would have to help each other become healthier, better educated and more prosperous, were we not fighting to stay employed and for other basic rights? What would happen if a much larger percent of media coverage went for public education? These questions are far beyond the scope of this article. But they -- and w e -- are all related!!

Right? 

 
(c)Phyllis Jean [D.] Green, M.Ed,ASHA SPL/CCC ret.

NORD and HYPOPARATHYROIDISM : http://www.hypoparathyroidism.org