Fundrais­ing for Xan­der

Warragul & Drouin Gazette - - LOCAL LIVING -

Citri­odora Gar­dens will open to the pub­lic this week­end to fundraise for a lo­cal child with a rare ge­netic disor­der.

In April this year, Xan­der Wil­liamson was di­ag­nosed with Pitt Hop­kins Syn­drome (PTHS), a rare ge­netic disor­der af­fect­ing a spe­cific gene in chro­mo­some 18, called TCF4.

There are about 600 con­firmed cases wold wide, with Xan­der the 11th di­ag­nosed in Aus­tralia.

Chil­dren with the syn­drome typ­i­cally have a happy, ex­citable de­meanour, fre­quently smil­ing and laugher.

PTHS is char­ac­terised by de­vel­op­men­tal de­lay, pos­si­ble breath­ing prob­lems of episodic hy­per­ven­ti­la­tion and/or breath hold­ing while awake, re­cur­rent seizures/epilepsy, gas­troin­testi­nal is­sues, lack of speech and distinc­tive fa­cial fea­tures.

Chil­dren have poor muscle tone and many never walk in­de­pen­dently.

PTHS is con­sid­ered an Autism Spec­trum Disor­der, and some in­di­vid­u­als with Pitts have dif­fi­cul­ties with anx­i­ety, ADHD, and sen­sory dis­or­ders.

PTSH chil­dren are con­sid­ered non-ver­bal. The syn­drome has tra­di­tion­ally been associated with mod­er­ate to se­vere cog­ni­tive im­pair­ment, how­ever true in­tel­li­gence is dif­fi­cult to mea­sure given the mo­tor and speech dif­fi­cul­ties.

Thanks to aug­men­ta­tive com­mu­ni­ca­tion and more pro­gres­sive ther­a­pies chil­dren can achieve so much more than ini­tially thought.

Melissa Wil­liamson said while Xan­der has made good progress through weekly ther­apy in­clud­ing physio, OT and speech, the fam­ily have a long way to go and ad­di­tional in­ten­sive ther­apy is needed.

Xan­der’s fam­ily would like to take him to the NAPA Cen­tre in Syd­ney which runs an in­ten­sive three-week pro­gram.

A block of in­ten­sive ther­apy costs about $10,000 and the fam­ily hope to take him to the cen­tre for treat­ment three times a year.

Lo­cated at 711 Old Tele­graph Rd East, Cross­over, Citri­odora Gar­dens will open on Satur­day and Sun­day, Novem­ber 18 and 19 from 10am un­til 4pm, with Devon­shire teas, sand­wiches and baked goods avail­able.

Metal art will be on dis­play though­out the gar­den and all works will be avail­able for pur­chase, with all pro­ceeds sup­port­ing Xan­der.

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