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.

You might also like

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

A Breath of Hope
Movie ()

Shire Says Holders Deserve Higher as AbbVie Eyes Offer  — Businessweek
Product sales will increase at a double-digit rate as Shire expands in drugs for rare diseases and eye maladies, rising to $6.5 billion by 2016, and the board needs to keep that in mind as it considers the company's future, CEO Flemming Ornskov said.

Smallpox vaccine given to 103 pregnant women. (Fetal Vaccinia Extremely Rare).: An article from: Skin & Allergy News
Book (International Medical News Group)
SungEum Limited Korea Elton John - Goodbye Yellow Brick Road (CD, Album) 1995 Mercury Cat.#528 159-2. Printed in Korea *EXTREMELY RARE & HARD TO FIND ISSUE* [Audio CD]
Single Detail Page Misc (SungEum Limited Korea)
  • (Released by PolyGram Limited - Manufactured and Distributed by SungEum Limited Registered No.3 The Ministry of Culture Printed in Korea)
  • Label: Mercury - 528 159-2 Series: The Classic Years - Format: CD, Album, Remastered Country: Korea Barcode (scanned): 731452815927 Barcode (text): 7 31452 81592...
  • Tracklist : 1 Funeral For A Friend (Love Lies Bleeding)Synthesizer [A R P] - David Hentschel 11:08 2 Candle In The Wind 3:50 3 Bennie And The JetsOrgan - Elton* 5:23...
ROSE MOROC ABSOLUTE Essential Oil - 100% ABSOLUTE - Therapeutic Grade - Essential Oil By Oakland Gardens - BUY 2 + 1 FREE ~!! (015 mL - 0.5 fl oz Bottle)
Kitchen (Oakland Gardens Wedding & Home Decor)
  • IMPORTANT:This is an Absolute Rose Essential Oil. This is a custom order, which may take a few days longer to ship than other oils.There is Absolutely NO return/refund...
  • Botanical Name: Rosa damascene Plant Part: Flowers Extraction Method: Solvent Extraction Origin: Morocco Description: The rose is one of the worlds best known flowers...
  • Disclaimer: This information is for educational purposes only, it is not intended to treat, cure, prevent or, diagnose any disease or condition. Nor is it intended...
TV Series Episode Video on Demand ()