Blog­ger mum shares story of life with brave Pearl

Macclesfield Express - - NOSTALGIA - STU­ART GREER

ABLOGGER whose daugh­ter has a rare ge­netic con­di­tion is us­ing her ex­pe­ri­ence to help oth­ers.

Jane Scott, 46, started her blog – The Wrong Kind of Snow – as a way of record­ing what fam­ily life was like with a dis­abled child.

Her daugh­ter Pearl, 10, has a con­di­tion where the gene GNA01 has spon­ta­neously mu­tated, af­fect­ing the sig­nals to her brain.

Although the con­di­tion varies from per­son to per- son, Pearl has phys­i­cal and com­mu­ni­ca­tion dif­fi­cul­ties.

Jane, from Bolling­ton, uses her blog to give a ‘warts and all’ view of life in the Scott house­hold – which in­cludes her hus­band Pete and three chil­dren – and has been sur­prised by how far around the world it has reached.

She said: “I have al­ways like writ­ing and at the time I started the blog we still hadn’t been given a for­mal di­ag­no­sis for Pearl. I wanted to share what we were go­ing through as a fam­ily, a warts and all ver­sion of our lives. An his- tor­i­cal record.

“What stag­gered me was when I started to see it was reach­ing peo­ple all over the world. It was amaz­ing. Peo­ple with sim­i­lar chal­lenges were say­ing ‘thank you’ for mak­ing them feel less alone, which was very com­fort­ing.”

Jane and Pete didn’t re­alise any­thing was wrong with Pearl un­til they no­ticed she wasn’t de­vel­op­ing at the same rate as other chil­dren her age.

It trig­gered nine years of tests, as­sess­ments, scans and biop­sies, un­til last year when Pearl was fi­nally di­ag­nosed.

Jane, a trained speech and lan­guage ther­a­pist, said: “It was a process of elim­i­na­tion. Bits of Pearl were sent all over the world to spe­cial­ists un­til fi­nally they found a mu­ta­tion of the GNA01 gene.

“I had mixed emo­tions with the di­ag­no­sis. In a way we wanted to know what it was but then we also didn’t want a la­bel.

“To us she is our Pearl. She is charm­ing and funny, and de­spite her com­mu­ni­ca­tion be­ing lim­ited by her con­di­tion, she un­der­stands us.”

A ma­jor chal­lenge for the fam­ily was not be­ing able to tell peo­ple what was wrong.

Jane said: “Peo­ple would ask what was wrong and didn’t be­lieve me when I said I didn’t know. That’s how I came up with the name ‘The Wrong Kind of Snow’. It was how Bri­tish Rail tried to ex­plain the dis­rup­tion of their ser­vices in the 1990s, and say­ing I don’t know what’s wrong with Pearl sounds equally as in­ex­pli­ca­ble.”

De­spite the chal­lenges the Scott fam­ily are happy to share their ex­pe­ri­ences to help oth­ers. Jane has even printed some busi­ness cards with the blog’s web ad­dress to dish out to strangers.

She said: “One of the most chal­leng­ing things is the re­ac­tion of oth­ers. Peo­ple do stare. I want to be able to help them learn more about us by hand­ing them one of those cards and guid­ing them to the blog – and our lives.”

Jane and Pete Scott with daugh­ter Pearl

MP David Rut­ley with mem­bers of the Cheshire Young Farm­ers

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