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The rare condition that causes fits, and even death, in babies

rare diseases fits babies
rare diseases fits babies

Hypoparathyroidism can go undetected for years, and can even be misdiagnosed as psychiatric illness, but greater awareness and an available treatment can change or even save lives.

Seizures begain early on for their child

When her baby began having seizures, for which doctors could not initially find a reason, Sophie* talked to her family and uncovered stories of other children who started shaking and then died. More tests showed her child had hypoparathyroidism, a rare condition caused by low levels of the parathyroid hormone (PTH), which regulates calcium metabolism. Given treatment with active vitamin D to raise the blood calcium to normal levels, her child soon recovered.

I have seen patients misdiagnosed with depression.

Professor Rajesh V Thakker, May professor of medicine at University or Oxford, says:

“Hypoparathyroidism – hypopara – is triggered when the parathyroid glands (next to the thyroid gland in the neck) fail to make enough PTH, which is the body’s calcium regulator.

“The blood in an adult contains about two teaspoons of calcium, and even a minor change can have consequences. Too little causes tiredness, aches, cramps and foggy thinking, and I have seen patients misdiagnosed with depression. Severe hypocalcaemia causes epileptic fits and death.”

Causes of Hypoparathyroidism

The most common cause is surgical removal or damage to the glands, but they can also be destroyed by the body’s own immune system. Genetic problems may also result in absent or malformed glands.

“Hypoparathyroidism can be hard to spot – I’ve seen patients in whom it has gone undiagnosed for years,” says Thakker.

Low blood calcium can also result from other causes, so tests are needed to diagnose hypoparathyroidism.

Treatment of the rare disease require further trials

Initial treatment is with an active preparation of Vitamin D, which regulates calcium absorption, plus calcium tablets if required. If that fails, patients may be offered injections of synthetic PTH.

However, where there is a problem with the calcium-sensing receptors, another drug may work, but it requires trials, and so far, doctors and patients groups have not succeeded in securing one.

* name has been changed for anonymity purposes

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