Lit­tle mir­a­cle fights on against the odds

The Queensland Times - - NEWS - My­janne Jensen My­

SO­PHIE Nance is just like any other pre-teen, but her jour­ney to reach high school has been a fight ev­ery step of the way.

The 12-year-old Spring­field Lakes girl is due to join her twin brother, Matthew, next year for their first year at Spring­field Cen­tral High School, which is a great achieve­ment when you con­sider her di­ag­no­sis of Maroteaux-Lamy Syn­drome 11 years ago meant she al­most didn’t make it past the age of two.

De­spite the odds, So­phie has gone on to thrive and said she’s look­ing for­ward to start­ing the next chap­ter of her life.

“The hard­est thing liv­ing with this con­di­tion is that you get re­ally sore, so you strug­gle with some things like run­ning or when you de­te­ri­o­rate, you have to do less,” So­phie said.

“I wouldn’t call it good, but you just learn to live with it and the cool thing is that I get to use tech­nol­ogy which other peo­ple don’t.

“I’m re­ally look­ing for­ward to the tran­si­tion classes at high school and also meet­ing my new teach­ers.”

So­phie was just 16 months old when she was di­ag­nosed with the rare dis­ease, in which suf­fer­ers lack the en­zyme re­spon­si­ble for break­ing down waste prod­ucts in the body.

She was only the fourth per­son in Queens­land to be di­ag­nosed with the dis­ease, with treat­ment at the time not funded by the gov­ern­ment.

Mum Mandy said through com­mu­nity sup­port and lo­cal politi­cians, the fam­ily was able to lobby the gov­ern­ment to fund the treat­ment and ul­ti­mately, save her lit­tle girl’s life.

“So­phie needed en­zyme re­place­ment ther­apy which was only avail­able un­der a trial that she wasn’t el­i­gi­ble for,” Mrs Nance said.

“Our lo­cal GP got in touch with West­side Com­mu­nity Care direc­tor Pas­tor Phil Cut­cliffe who put us in con­tact with our lo­cal State Mem­ber, Jo-Ann Miller who was even­tu­ally able to get the State Gov­ern­ment to pay for So­phie’s treat­ment.

“This was later ap­proved for fed­eral fund­ing un­der the Phar­ma­ceu­ti­cal Ben­e­fits Scheme and the funds that were raised through the me­dia cam­paign went to­wards spe­cialised equip­ment for So­phie.

“We are so very grate­ful

Her treat­ment now costs about one mil­lion dol­lars per year. — Mandy Nance

for all of this fund­ing be­cause with her cur­rent weight, her treat­ment now costs about one mil­lion dol­lars per year.”

Pas­tor Phil Cut­cliffe said it was amaz­ing to see So­phie start­ing high school and was par­tic­u­larly im­pacted by her story.

“I re­mem­ber find­ing So­phie's story touch­ing to me as I am a twin and I tried to think if it was my own twin sis­ter go­ing through that life chal­lenge, I would have re­ally wanted some­one to step in and help,” Ps Cut­cliffe said.

“It just looked im­pos­si­ble to have to raise $200,000 a year and I think I re­mem­ber Mandy say­ing she had writ­ten to the then Health Min­is­ter and hadn't re­ceived any re­sponse, so I knew Jo-Ann Miller and thought I would ask her to in­ves­ti­gate.

“I was over the moon when just a short time later Jo-Ann re­ported back that the Health Min­is­ter had agreed to fund the costs un­til the Fed­eral Gov­ern­ment changed their mind and made the fund­ing avail­able for So­phie.

“It just goes to show any one per­son in the com­mu­nity can make a dif­fer­ence if they reach out and help some­one.”

Shortly af­ter So­phie’s di­ag­no­sis So­phie fea­tured on the front page of the Queens­land Times which saw an out­pour­ing of help to­wards her cause. Since then So­phie has un­der­gone nu­mer­ous op­er­a­tions and con­tin­ues to re­ceive En­zyme Re­place­ment Ther­apy on a weekly ba­sis.


FAM­ILY SUP­PORT: So­phie Nance with her mum Mandy and twin brother Matthew. So­phie suf­fers Maroteaux-Lamy Syn­drome.

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