Extremely rare diseases // Drug Repurposing

Extremely rare diseases

Madilyn YangMadilyn Yang almost died soon after her birth in February, 2011. “She immediately fell asleep and turned blue, ” recalls her mom, Sarah. “I only got to hold her for a minute before she was rushed to the neonatal intensive care unit (NICU).”

There, the tiny baby girl from Birmingham, Alabama, repeatedly stopped breathing. Initially, NICU doctors thought her respiratory problems stemmed from being born 5 weeks prematurely.

At three-and-half weeks of age, Madilyn was diagnosed with one of the world’s rarest diseases—congenital central hypoventilation syndrome (CCHS)—and underwent tracheotomy surgery to insert a breathing tube.

“The operation was extremely frightening because Madi only weighed 5 pounds, and it was hard for the doctors to find a breathing tube small enough, ” says Sarah Yang, PhD, then a researcher specializing in neurodevelopmental diseases.

Sarah and her husband, a doctor specializing in cancer research, spent months at their daughter’s NICU bed, praying that she would pull through a harrowing series of complications, including sepsis (a potentially fatal whole-body infection). At one point, the baby temporarily lost the ability to swallow food.

Madilyn Yang, Halloween 2013Breathing Disease Only Affects One in 7.2 Million Babies

To date, about 1, 000 cases of CCHS have been identified, according to the National Institutes of Health. That means that only about one in 7.2 million babies are affected.

Babies with this extremely rare disease take shallow breaths (hypoventilate) or even “forget” to breathe, especially during sleep. Researchers believe that some cases of sudden infant death syndrome may be the result of undiagnosed CCHS.

The disorder is triggered by a genetic mutation, with the initial symptoms—such as blue skin or lips due to lack of oxygen in the blood, a flattened face, reduced sensitivity to pain, and in some cases, heart problems, abnormalities of the eyes or face, or malfunctioning nerves in the digestive tract—typically occurring in newborns.

More than 90 percent of cases occur in kids with no family history of the disease, as was true with Madilyn, who has two healthy siblings.

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Biggest Risk: Various oral/fecal diseases

by twiceborne

A few include:
--Hepatitus (all types)
--E Coli infections
--Various intestinal worms (pinworm especially)
--Any intestinal disease he/she may have (Cholera, Typhoid, Dysentary, for example), though most of these are pretty rare in the US
--Food Borne Illnesses, though if your partner has one, they'll probably have explosive diarrhea and not be much in the mood for sex anyway.
AIDS is fairly low risk here. It is presumed that saliva kills HIV, hence the extremely low incidence of oral trasmission of HIV.

In theory, yes

by Possumpaws

And it has occurred before, but in highly unusual circumstances, and it is EXTREMELY rare. I would be interested to know what test actually was performed, because media often portrays other diseases as rabies. Many people are advised to have post exposure prophylaxis as a precaution anyway.
It is believed that the opossum's low body temperature makes incubating the virus difficult. Perhaps in the instance of a prolonged raised body temperature, the virus could thrive. However, this is EXTREMELY rare.

There is a lot of growing evidence that

by FriendofFargo

Hyper cleanliness is the cause of the huge increase in auto-immune diseases - asthma, MS, Crone's disease, RA - it seems that when the immune system doesn't have anything to work on, it is more likely to attack itself
reason why these disorder's are very rare in the third world and most common in places like Japan where any kind of messiness is extremely frowned on

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