THIS is the heartbreaking final time a little girl told her he parents she loved them before “childhood dementia” took away her ability to speak.
Little Keira Esposito may look like any other eight-year-old girl but in the last few years she has forgotten how to communicate and will soon unlearn everything she knows.
Keira has Sanfilippo syndrome, a rare degenerative disorder liked to a childhood form of Alzheimer’s.
It’s caused by a missing enzyme and creates a build-up of sugar around the muscles, stiffening the joints and resulting in early death.
Some 70 per cent of children with this condition die before their fifteenth birthday, something Keira’s parents, David, 42, and Elise, 43, dread every day.
Keira now has the cognitive ability of a one year old baby and a tragic video captured by her parents in April 2016 caught the last time she told them, and her baby sister Keaton, she loved them.
“Keira is eight right now and we are painfully aware of our time together,” technology consultant David said.
“Keira’s illness began with a cognitive degeneration, but eventually she will lose the ability to walk, she will lose the ability to eat. Eventually, her organs will go into failure.
“When Keira was diagnosed she had about four or five words but now they’ve all been lost.
“She can’t speak at all, and although you can see she’s trying so hard, she just can’t get it out.
“As a parent there comes a point where you realize she hasn’t said mummy or daddy in a month and you remember she probably never will say them again.
“We feel very lucky that we captured the last time Keira said ‘I love you’ on camera.
“We are very glad that we have these things on film, but it is very hard to watch. We do not do it too often.”
In January, David and psychologist Elise, who also have a two-year-old daughter named Keaton, celebrated Keira’s eighth birthday at a trampoline park.
But every birthday comes with a bittersweet reminder that they are one year closer to losing their little girl.
In March 2017, the family moved from their home in West Virginia in the US to North Carolina to seek better medical care for their daughter.
The couple now work closely with the Cure Sanfilippo Foundation to help raise funds and awareness of Keira’s condition.
Although Sanfilippo is incurable the organisation raises funds for research and clinical trials – some of which are currently in place – in the hope that there will one day be a solution.
AN ALZHEIMER’S-LIKE DISEASE
IN 2009 scientists at the University of California, Los Angeles made a surprising discovery while investigating the causes of Sanfilippo syndrome.
They discovered key proteins, that are usually seen in patients with Alzheimer’s and other forms of dementia, were present in people with the rare genetic condition.
Sanfilippo syndrome affects around one in every 100,000 people, and is caused by a recessive gene.
This means if both parents carry the gene, there is a one in four chance of their offspring inherting the defective gene from each parent – and being diagnosed with the condition.
The disease progresses in each child differently, in some it is much faster than others.
Over time a child’s language and ability to understand will be lost, along with their memory.
They will begin to slow down and eventually it is likely they will lose the ability to walk.
The UCLA scientists noted most sufferers will pass away before they reach 20.
Their discovery, that P-tau proteins in the brain play a role, mean people with Sanfilippo could one day benefit from the wealth of research into Alzheimer’s disease.
At the time of their findings, published in the journal Proceedings of the National Academy of Sciences, they wrote: “With the increasing incidence of Alzheimer’s disease, we expect to see new drugs developed to prevent these neurofibrillary tangles or dissolve them.
“Our findings suggest those treatments could also benefit patients with this rare genetic disorder.”
Source: UCLA and National MPS Society
“Keira’s diagnosis changed every part of our lives,” David added.
“We are very private people but Keira has made us public because we feel compelled to share her story to raise awareness.
“When she was diagnosed, all of our planning for the future stopped. As a family we very much live in the now.
“You have to fight back because the other option is to give up on Keira.
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“There’s a certain wisdom that comes with having a child like Keira and going through this as a family. You realise just how fragile life is.
“People always say to us, ‘I don’t know how you do it’, but anyone could do it because when you’re in that position you just have to.”
For more information on Sanfilippo or to donate please visit the Cure Sanfilippo Foundation website here.
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