Vocapedia > Health > Rare diseases / disorders

Monica Coenraads, left,

and her daughter, Chelsea Coenraads, who has Rett Syndrome,

at their home in Trumbull, Conn., last year.

Photograph: Monica Jorge

for The New York Times

'It Will Consume Your Life': 4 Families Take On Rare Diseases

NYT

July 7, 2020

https://www.nytimes.com/2020/07/07/
health/rare-diseases.html
 

rare diseases        USA

https://www.nytimes.com/2020/07/07/
health/rare-diseases.html

https://www.npr.org/2020/07/06/
887925750/scientist-makes-a-discovery-that-may-lead-to-new-drugs-for-rare-brain-diseases

https://www.npr.org/2020/05/13/
855229776/doctor-with-rare-disease-and-no-answers-decides-to-find-his-own-cure

https://www.npr.org/sections/health-shots/2020/03/25/
821534016/drugmaker-asks-fda-to-rescind-rare-disease-status-perks-for-covid-19-drug

https://www.npr.org/sections/health-shots/2020/03/24/
821035311/fda-grants-experimental-coronavirus-drug-benefits-for-rare-disease-treatments

https://www.npr.org/sections/health-shots/2019/10/28/
773018205/fast-dna-sequencing-can-offer-diagnostic-clues-
when-newborns-need-intensive-care

https://www.npr.org/sections/health-shots/2019/10/16/
769462793/a-boys-mysterious-illness-leads-his-family-
on-a-diagnostic-odyssey

https://www.nytimes.com/2018/09/10/
health/matthew-might-rare-diseases.html

http://www.npr.org/sections/health-shots/2017/06/19/
527795512/a-couples-quest-to-stop-a-rare-disease-before-it-takes-one-of-them

http://www.npr.org/sections/health-shots/2017/01/17/
509506836/drugs-for-rare-diseases-have-become-uncommonly-rich-monopolies

http://www.npr.org/blogs/health/2013/11/11/
244534236/shire-viropharma-cinryze-deal-highlights-drug-profits-from-rare-diseases

a rare autoimmune disease        USA

granulomatosis with polyangiitis

(...) causes inflammation of blood vessels

and can be particularly damaging

for the lungs and kidneys.

https://www.npr.org/2020/07/29/
895152258/data-analysis-covid-19-is-filling-up-hospitals-in-small-cities

cope with rare diseases        USA

https://www.npr.org/sections/health-shots/2018/12/17/
673066806/medical-detectives-the-last-hope-for-families-coping-with-rare-diseases

rare syndrome        UK

https://www.theguardian.com/society/2020/apr/29/
more-cases-of-rare-syndrome-in-children-reported-globally

Rett Syndrome        USA

https://www.nytimes.com/2020/07/07/
health/rare-diseases.html

Schnitzler syndrome        USA

https://www.nytimes.com/2018/02/14/
magazine/her-various-symptoms-seemed-unrelated-
then-one-doctor-put-it-all-together.html

rare illness > Morquio syndrome        UK

http://www.theguardian.com/society/2015/jul/25/
morquio-syndrome-nhs-drug-funding-sarah-long

mystery illness > “dysautonomia”        UK

https://www.theguardian.com/books/2021/feb/27/
a-still-life-by-josie-george-review-memoir-of-a-mystery-illness

progeria,

a condition that causes those affected

to age eight times faster        UK / USA

https://www.nytimes.com/2024/07/24/
health/progeria-dna-base-editing.html

http://www.theguardian.com/uk-news/2015/apr/03/
progeria-campaigner-hayley-okines-dies

progressive supranuclear palsy, known as PSP        USA

a rare brain disorder

whose cause is largely a mystery

and for which

there is no known effective treatment.

http://www.nytimes.com/2014/04/15/
arts/phyllis-frelich-deaf-activist-and-actress-dies-at-70.html

Polycythemia vera, a rare blood disorder        USA

https://www.npr.org/2022/03/09/
1085637403/ron-miles-cornetist-who-imbued-modern-jazz-with-heart-and-soul-dies-at-58

 Jansen’s metaphyseal chondrodysplasia        USA

https://www.nytimes.com/2020/07/07/
health/rare-diseases.html

Undiagnosed Disease Network        USA

https://www.npr.org/sections/health-shots/2018/12/17/
673066806/medical-detectives-the-last-hope-for-families-coping-with-rare-diseases

Undiagnosed Diseases Program        USA

http://www.nytimes.com/2009/02/22/
magazine/22Diseases-t.html

Kala-Azar

When it first struck Sudan

a century ago,

the Arabs ironically called it

"beautiful"

because of the occasional effect

of making sufferers' cheeks swell.

Nothing else about kala azar

(also known as visceral leishmaniasis)

is attractive.

Transmitted by the bite of a sandfly

which lives in acacia forests,

the disease produces a high fever.

Loss of weight,

headaches,

colossal weakness,

and anaemia follow.

The spleen and liver

become enlarged.

Without treatment

people usually survive

for no more than two months.

This rare disease is found mainly

in parts of Sudan, Kenya and Ethiopia

as well as in north-east India

and Bangladesh.

http://www.theguardian.com/society/2004/jan/03/
christmasappeal.internationalnews

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