After years of trying, parents Dave and Karen Kahn were blessed with the news they’d soon be having twins, conceived through the help of in vitro fertilisation (IVF).
Born happy and healthy, life seemed sweet for the Scottsdale, Arizona family, who were completed by precious girls Amelia and Makenzie.
The first diagnosis came within a year, when baby Amelia began to show behavioural symptoms that were later linked to autism.
At six, after an express of concern from two separate teachers, she was found to have macular dystrophy, a rare and genetic vision disorder that can sometimes result in blindness.
Shortly after, little Makenzie began to experience sight loss too, and like her sister, was also diagnosed with the disorder.
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“She couldn’t see the words at all as we were reading,” mum Karen told The Daily Mail exclusively.
Without the help of a clinical trial, Amelia may never make it past her teens.
On February 10, Dave and Karen received the news that would change their lives forever; that despite a lack of symptoms, their now-seven-year-old daughter Amelia had been diagnosed with Batten disease – a rare and inherited disorder of the nervous system.
Known also as Neuronal Ceroid Lipofuscinoses, the illness is caused by an abnormal build up in the body’s cells, resulting in seizures, vision deterioration and loss of motor skills, as well as cognitive impairment.
Eventually, sufferers become blind, paralysed and disabled as their childhoods are taken away from them, and will pass away by the late teens or early twenties.
Neither Karen nor Dave were aware they were carriers of the gene, that meant their daughters had a one-in-four chance of developing the disorder.
Doctors now strongly suspect that Makenzie may too have the neurodegenerative illness, but looking at their girls, the parents say you’d never know their fate.
“They can read, they can pick out colours, sometimes Amelia will ask you know, ‘Mommy, is this blue?’ but you couldn’t tell,” Karen tells the publication.
The sisters love the colour blue.
While there is no cure, hope is not yet lost for the brave parents, who are doing all they can to secure their girls a spot in a new clinical trial aiming to halt or slow the progressing degeneration through gene therapy.
“We’ve thought about what our future looks like 15, 20 years from now and not having our kids around is not an option.”
“They’re our only kids. We went through IVF to have them and receiving this diagnosis is like a cruel joke,” Karen says.
The family will soon travel to Texas for further testing and research, where a medical centre with the resources for Batten disease is currently based.
To help them save their daughters, Karen and Dave have established a GoFundMe account for the costs of the clinical trial.
Now To Love wishes the Kahn family the best in Amelia and Makenzie’s treatments.
