'She can't crawl or sit': Parents of Perth toddler call for more screening for rare disorder
The parents of a Perth toddler who's been diagnosed with a rare genetic disorder say there should be more screening for the disease.
Two-year-old Kyra McKinlay was diagnosed with Metachromatic Leukodystrophy or MLD - a genetic disorder which destroys the protective covering of the nervous system.
Her diagnosis, made just two weeks ago, has left her parents fearing the worst with this Christmas potentially their daughter's last.
"She can no longer crawl or sit unassisted, has trouble feeding and suffers painful leg spasms," father Barry revealed.
Earlier this year, Kyra was getting around like any other toddler but by October, the disorder began to take control of her body.
"It's devastating, it really is. From seeing her nearly walk and everything else," he said.
After it took nine months for Kyra to be diagnosed, her parents now want new-born screening available to all parents, so the symptoms of MLD are caught sooner.
Mother Tammy is 34 weeks pregnant and they're now worried their unborn son may also have MLD.
If he does, we can get some sort of treatment happening straight away," she said.
About one in 100 people carry the defective gene that leads to MLD. If both parents have it, there's a 25 per cent chance their child will develop the disease and there's no cure.
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But her parents are determined to make the most of their time left together despite Kyra's condition and are looking to take her to a theme park in Queensland to see her beloved Minnie Mouse before it's too late.
"Just trying to make a lot of memories for her before she loses her eyesight. We don't know when that's going to happen,"
Her parents are currently raising money via a GoFundMe page to help fund her care and last moments and have so far raised $10,000 of their $50,000 goal.
