This month: The Ital­ian fam­ily who feel no pain, the girl who smells colours and an alarm­ing ex­am­ple of the per­ils of plas­tic pack­ag­ing...

Fortean Times - - Strange Days -


An en­tire Ital­ian fam­ily suf­fer from a strange ge­netic mu­ta­tion that makes them al­most com­pletely im­mune to pain. The con­di­tion is so rare that sci­en­tists have named it ‘The Mar­sili Syn­drome’, af­ter the fam­ily. Le­tizia Mar­sili, 52, be­came aware of her im­mu­nity to pain in early child­hood when she didn’t ex­pe­ri­ence any par­tic­u­lar sen­sa­tion from burns or frac­tures. Five other mem­bers of her fam­ily, span­ning at least three gen­er­a­tions, also share this rare ge­netic anom­aly. “From day to day we live a very nor­mal life, per­haps bet­ter than the rest of the pop­u­la­tion, be­cause we very rarely get un­well and we hardly feel any pain,” said Le­tizia. “How­ever, in truth, we do feel pain, the per­cep­tion of pain, but this only lasts for a few sec­onds.” While the mu­ta­tion might seem to func­tion like a su­per­power, it can also be dan­ger­ous. Since the Mar­silis only feel pain for a few sec­onds, they of­ten leave in­juries un­treated.

Le­tizia once frac­tured her right shoul­der while ski­ing, but con­tin­ued to ski all af­ter­noon. She only went to hos­pi­tal the next morn­ing be­cause her fin­gers were tin­gling. Her sis­ter Maria Elena of­ten dam­ages the top of her mouth, be­cause she burns her­self with hot drinks. Le­tizia’s 24-year-old son Lu­dovico, who plays foot­ball, of­ten gets in­jured, but just keeps on go­ing, re­gard­less how se­ri­ous the in­jury. “He re­cently re­ceived X-rays of the joints, which showed that he has many mi­cro­c­racks in the an­kle,” said Le­tizia. Her youngest son, 21-year-old Bernardo, frac­tured his el­bow joint af­ter fall­ing from a bi­cy­cle, but he didn’t even no­tice. Af­ter the fall, he sim­ply got up and cy­cled a fur­ther 14km (9 miles) as if noth­ing had hap­pened. Doc­tors only dis­cov­ered the trauma when his bone be­gan to heal. The Mar­silis have be­come the fo­cus of re­searchers hop­ing to dis­cover how their mu­ta­tion works, and so de­velop new ways of pain man­age­ment. Af­ter ge­netic map­ping the fam­ily, James Cox of Univer­sity Col­lege Lon­don and his col­leagues iso­lated the vari­ant shared by the Mar­silis – a gene called ZFHX2. They then con­ducted two tests on mice and de­ter- mined that the mice that were grown with a sim­i­lar ge­netic mu­ta­tion were also obliv­i­ous to pain. odd­i­ty­cen­, 21 Dec 2017.


Last year, Deepti Regmi, an 11-year-old girl from Nepal, spon­ta­neously de­vel­oped the abil­ity to smell colours, an un­usual vari­ant of synæs­the­sia. She is also al­legedly able to read newsprint by feel­ing it. Deepti, who be­lieves her abil­ity is a gift from God, has been train­ing to sharpen her sense of smell, hop­ing even­tu­ally to use it to help the vis­ually im­paired. Footage shot by Puskar Nepal shows her iden­ti­fy­ing colours while blind­folded by sniff­ing var­i­ous ob­jects.

Ac­cord­ing to the Amer­i­can Psy­cho­log­i­cal As­so­ci­a­tion, around one in 2,000 peo­ple glob­ally are af­fected by synæs­the­sia, the cause of which is cur­rently un­known. There does ap­pear to be a ge­netic fac­tor in some cases, but the con­di­tion of­ten oc­curs com­pletely spon­ta­neously as well. Synæs­thetes are pre­dom­i­nately fe­male. They are said to be eight times more likely to work in creative fields, and mu­si­cians with synæs­the­sia are par­tic­u­larly com­mon. Mary J Blige, Frank Ocean, Tori Amos, Billy Joel, and Pharell Wil­liams have all been di­ag­nosed with the con­di­tion. Fa­mous synæs­thetes in­clude Vladimir Nabokov, Vin­cent Van Gogh and Duke Elling­ton.

Sto­ry­tren­der, via Caters News Agency and odd­i­ty­cen­, 26 Oct 2017.


Rats and their fleas were once thought to have spread a se­ries of plague out­breaks in 14th-19th cen­tury Europe, but a team from the univer­si­ties of Oslo and Fer­rara now says the ma­jor pan­demic known as the Black Death can be largely as­cribed to hu­man ec­topar­a­sites (fleas and body lice). The study, in the Pro­ceed­ings of the Na­tional

Academy of Sci­ence, an­a­lysed records of the plague’s pat­tern and scale. The Black Death claimed an es­ti­mated 25 mil­lion lives, more than a third of Europe’s pop­u­la­tion, be­tween 1347 and 1351. “We have good mor­tal­ity data from out­breaks in nine cities in Europe,” said Prof Nils Stenseth, from the Univer­sity of Oslo, “so we could con­struct mod­els of the dis­ease dy­nam­ics [there].”

Prof Stenseth and his col­leagues then sim­u­lated dis­ease out­breaks in each of these cities, cre­at­ing three mod­els where the dis­ease was spread ei­ther by rats, air­borne trans­mis­sion, or fleas and lice that live on hu­mans and their clothes. In seven out of the nine cities stud­ied, the “hu­man par­a­site model” was the best match for the pat­tern of the out­break. It mir­rored how quickly it spread and how many peo­ple it af­fected. “The con­clu­sion was very clear,” said Prof Stenseth. “The lice model fits best. It would be un­likely to

spread as fast as it did if it was trans­mit­ted by rats. It would have to go through this ex­tra loop of the rats, rather than be­ing spread from per­son to per­son.”

Plague is still en­demic in some coun­tries of Asia, Africa and the Amer­i­cas, where it per­sists in “reser­voirs” of in­fected ro­dents [see

FT361:11]. Ac­cord­ing to the World Health Or­ga­ni­za­tion, from 2010 to 2015 there were 3,248 cases re­ported world­wide, in­clud­ing 584 deaths. In 2001, a study that de­coded the plague genome used a bac­terium that had come from a vet in the US who had died in 1992 af­ter a plague-in­fested cat sneezed on him as he had been try­ing to res­cue it from un­der­neath a house. BBC News, 15 Jan; D.Mail, 16 Jan; Sun, 17 Jan 2018.


For six years, an un­named 41-year-old woman suf­fered bouts of acute ab­dom­i­nal pain and bloat­ing last­ing up to three days – prompt­ing doc­tors to di­ag­nose Crohn’s dis­ease, which af­fects at least 115,000 peo­ple in the UK and mil­lions more world­wide. The ex­act cause is un­clear, but it is thought to be a com­bi­na­tion of ge­netic and en­vi­ron­men­tal trig­gers. There’s cur­rently no cure but treat­ment can help to re­lieve symp­toms. When the woman failed to re­spond to stan­dard med­i­ca­tion, doc­tors at Heather­wood and Wex­ham Park Hos­pi­tal in Slough de­cided to op­er­ate. Key­hole surgery found an inflamed mass in the small in­tes­tine, re­veal­ing two pieces of plas­tic pack­ag­ing bear­ing the Heinz logo, ap­par­ently from a sa­chet of ketchup, pierc­ing her in­tes­tine. She had no mem­ory of con­sum­ing a meal in­volv­ing the sa­chet. Once re­moved, her symp­toms were cured al­most im­me­di­ately. Doc­tors writ­ing in the Bri­tish Med­i­cal Jour­nal said it was the first re­ported case of in­gested plas­tic pack­ag­ing mim­ick­ing the symp­toms of Crohn’s dis­ease. dai­ly­, 3 Jan 2018.

ABOVE: Le­tizia Mar­sili (cen­tre) and fam­ily are be­ing stud­ied by re­searchers hop­ing to learn how their mu­ta­tion works.

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