Katie is only three years old but is already convicted. It is the unthinkable and tragic story that his parents tell, Jessica and Grant Hughes, in an article published by The Sun. While they thought that their daughter suffered from epilepsy, the thirties from Porth, in Wales, discovered that the little Katie was actually carrying a rare form of juvenile dementia in terminal phase …
“She is only three years old, she hasn’t even lived yet”
It all started in January 2025, when Katie was transported urgently to the hospital. Victim of an epilepsy crisis and a high fever, the three -year -old girls are prescribed to the pain relievers. According to doctors, his parents should not worry. But back home, Katie is prey to new crises. In May, a cerebral scanner confirms that it suffers from epilepsy. But at the end of the seventh crisis, the Hughes go back to the hospital: this time, they feel it, something serious strikes their daughter. Under pressure from the couple, doctors eventually conduct genetic tests. The cleaver then falls: Katie suffers from Batten disease. According to doctors, she will not be able to live beyond 12 years. “It is difficult to understand, because she is only three years old; she has not even lived yet,” said her mother, Jessica Hughes, at Sun.
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Grant, the dad of Katie, remembers this day of misfortune in which the diagnosis fell: “I am not the type to cry, but I was in tears; we were in pieces. They explained the future to us, but did not immediately announce his death. I had the impression that they died of the question. I asked them directly what was his life and they would say that it would be up to it. It is normal: it runs well, but its capacities will gradually weaken. “
Rare and incurable disease
Batten disease is a rare degenerative genetic disease that affects between 30 and 50 children in the United Kingdom, according to the Great Ormond Street Hospital (GOSH). It is an evil that is part of a group of degenerative diseases called Céroids-Lipofuscinoses Neuronales (CLN). Discovered and studied for the first time in 1903 by the English neurologist and pediatrician Frederick Batten, Batten disease is incurable and first causes epilepsy attacks, then a gradual decrease in the child’s ability to walk, speak and see, as well as a progressive dementia.
The form from which the small katie suffers (Batten CLN2) is particularly rare, hereditary, and like a form of juvenile dementia. According to the official website CLN2: Family, each person has two copies of the CLN2 gene. The parents of a child with CLN2 disease as Katie actually present a mutation in one of their CLN2 genes. Even in good health, parents carrying this genetic mutation can therefore transmit it to their children. Only a battery of genetic tests is capable of diagnosing Baten disease. On average, it is diagnosed in children between the age of five and ten years.
“It destroys us”
Parents of another girl named Mackenzie and seven years old, Jessica and Grant Hughes now want to enjoy every moment alongside Katie. Still struck by the diagnosis of this disease they had never heard of, young parents cling to harm. “Everything is scheduled now. We want to take it to amusement parks and to Disney World as long as it can still enjoy it. Even that is not easy: as it is epileptic, we have to pay £ 100 (around 115 euros, editor’s note) for special glasses so that it can endure the flashing lights. We display a courageous face every day, but in secret, we have to be there. For Mackenzie too. “
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An incurable disease that condemns young children
If there is no remedy for Batten disease, the National Health Service (the United Kingdom System of the United Kingdom) has initially rejected a permanent funding for a specific enzymatic therapy that could help to slow down its progression. A treatment which consists in regularly injecting the missing enzyme into the liquid surrounding the brain, which is expensive: more than 570,000 euros per year and per patient.
In 2019, the NHS finally accepted that the treatment was purchased at a highly reduced price, as part of a five -year access agreement with the Biomarin manufacturer. Only, this special offer is offered to children who have already started treatment, or could start it before the end of 2025. For Katie’s parents, it is a race against the clock so that the little girl can benefit from this treatment before the deadline …
