00:00If she's treated now, she could have a completely normal life.
00:03If she's treated in a year's time, it could be too late.
00:05This is Lenny, and like any other child, she loves playing with her toys and making a mess.
00:11But behind the smiles is a diagnosis no parent wants to hear.
00:15So Lenny has something called Sanfilippo syndrome,
00:18which is more commonly referred to as childhood dementia.
00:21It is a rapidly neurodegenerative genetic condition.
00:26It's extremely rare.
00:27Her subtype only affects one in 200,000 children,
00:31so it's actually classed as an ultra-rare genetic condition.
00:34The cruelest thing about this condition is that you don't have any obvious symptoms
00:39until children start to regress around three, four years old.
00:44We only found out about Lenny's diagnosis by chance
00:47because a close family member had a kind of routine genetic screening
00:51and was flagged as a carrier, and so me and my husband both got tested.
00:54She is just a delight to be around, really, and we absolutely adore her.
01:00Bag.
01:01Bag, yes.
01:03Oh, thank you.
01:05My shopping.
01:07For a lot of families, milestones are something to look forward to.
01:11But for Emily, there's something that she could lose.
01:14Lenny has about six months to a year until she starts to regress,
01:18and that's why her family are so urgently campaigning for support.
01:21Lenny's symptoms is her hearing loss, her speech delay,
01:24and the fact that her hair is a little bit more fuzzy.
01:27That regression is irreversible.
01:29So without treatment, it's very rapid once the regression starts,
01:33and it's very, very severe.
01:35So when she starts to lose her motor ability,
01:38she'll lose the ability to walk, to eat by mouth,
01:42all of her motor abilities, and then premature death in her early teens.
01:47Scary.
01:48Very scary.
01:49It's a terrifying, terrifying future, and it haunts us every day.
01:52But there is hope.
01:54Emily and her family have been campaigning to raise awareness and funding,
01:58backing research and clinical trials that could give Lenny and other children like her
02:03a chance at a life-changing treatment and cure.
02:06We have surpassed our original target, which was 200,000,
02:10which was looking at the EU site for Enzyme.
02:14We are now looking at 500,000,
02:16which would fund the preclinical work for the gene therapy trial.
02:22And that's our goal at the moment,
02:24and I think that will allow us to help Lenny,
02:26Lenny, but also as many children as possible.
02:29But for now, time is the most critical factor,
02:32because for Lenny, everything depends on what happens next.
02:37Kristen Hawthorne, KMTV, Sevenoaks.
Comments