A neurodegenerative disease of genetic origin what cause dementia, blindness and developmental delay: when Isla Edwardsa 10-year-old girl from Texas, underwent a routine eye exam at schoolno one could have imagined that a simple eye test would then lead to that terrible one diagnosis.
To tell the story of Isla al US magazine NewsWeek was recently the mother of the little girl, Jacquelyn Stockdale. During an eye test at school in March 2021, when the little girl was 7 years old, it was suggested that she might need glasses. Unfortunately, however, when Isla is taken to an ophthalmologist, reality immediately appears very different, so much so that the mother is recommended to have her examined immediately by a pediatric ophthalmologist for investigations. The results are so worrying that, that same day, Isla’s mother finds herself driving 90 minutes to Texas Children’s Hospital of Houston.
«The doctors confirmed that Isla was showing the first signs of pediatric macular degeneration and that it would be necessary to carry out a genetic test to determine the cause. They took a swab and scheduled a follow-up appointment for August, when the results of the genetic test would be ready”, says the girl’s mother.
Thus on August 12th the unexpected diagnosis arrives: Isla’s genetic panel tests positive for a diagnosis Of Neuronal ceroid lipofuscinosis (CLN3), a very rare and extremely serious disease, commonly known as Juvenile Batten diseasewhat cause dementia in childhood, developmental delay, seizures, blindness and premature death.
Nothing, before that eye test – said the little girl’s mother – could have led people to think that there was something wrong with Isla. «I was told that very soon Isla would have completely lost her sightit would have developed infantile dementia and epilepsythat his cognitive capacity would begin to decline and that also his physical abilities they would start to deteriorate. Life expectancy for a child with CLN3 varies from late teens to early twenties”, added the mother, then describing the moment in which she had to communicate the diagnosis she had received to her family: “I had to go home, sit with our family and tell them this news, it was a horrible moment,” she told NewsWeek. “We have never discussed any of this with Isla and I still firmly believe that no child should have to bear the emotional burden of such a complex diagnosis.”.
Batten disease: what it is
As you read above Rare Diseases Observatorythe Neuronal ceroid lipofuscinosis (CLN)more commonly known as Batten diseaserepresent a large and heterogeneous group of neurodegenerative diseases of genetic origincharacterized by progressive decline in cognitive and motor skills, retinopathy progressing to blindness, variable cerebellar atrophy and epilepsy, resulting in reduced life expectancy. There are at least 14 genes currently known to underlie CLN CLN1 to CLN14. Today, individual forms of ceroid lipofuscinosis they are classified based on the gene affected and the age at onset of the disease (for example: CLN1 disease, childhood CLN1 disease, adult CLN1 disease, etc.).
In Italy, where the most frequent form of neuronal ceroid lipofuscinosis is CLN2 diseasewas founded in 2010, theNational Ceroid Lipofuscinosis Association with the aim of provide support to families affected by the disease in coping with the inconveniences resulting from the pathology.
The Association, made up of a group of parents, assisted by a Scientific Committee made up of doctors and researchers engaged in the study of this disease, supports thesingle National Database of NCLs which collects patients’ clinical and diagnostic data, in order to be able to to raise awareness among doctors who look after patients and improve the quality of care.
Although the diagnosis he received left little hope, in the following two years, i Little Isla’s parents didn’t give up the fight: today the little girl lost 90% of sight, is learning Braille, but her family supported and helped her so that she could experience her visual impairment as a strength rather than a weakness. “We don’t treat Isla’s vision loss as a sad circumstance or as something that’s broken.”, the mother explained. «For us it is very important that you know that your visual impairment is not something that makes you inferior. If anything, it makes her a stronger person, an extraordinary person, and we couldn’t be more proud of her.”
Today, the mother still says, two years after the diagnosis, The little girl’s vision problems are the only symptom she shows of the disease, even though doctors had prepared the family for the little girl’s imminent cognitive decline. The result, according to the little girl’s parents, would be due to drug called Miglustat, which the little girl has been taking since November 2022 and for which a clinical study is underway. «We made the decision to share Isla’s story on social media after that It became clear that we could not afford to provide her with the care she needed without help.” says the mother. In fact, thanks to a fundraiser, the family is trying to support the cost of 18,000 dollars a month for medicines.
And it is also to increase the awareness of this rare disease and connect with other families who are experiencing the same situation, which Isla’s parents created the Facebook group Isla’s Faith: Isla Edwards’ Fight Against CLN3 Batten Disease. The hope, for them, is that the drugs the little girl is taking can prevent the development of further symptoms.
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Source: Vanity Fair
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