According to ITV News and LADbible, the case began when a family member was found to be a carrier of a gene linked to Sanfilippo syndrome.
This meant that the child’s mother might also be a carrier.
For a child to develop the disease, both parents must carry the gene, which is very uncommon.
An initial private test indicated that the father was not a carrier, but it later emerged that the test had missed a very rare genetic variant.
Also read: How tuna can affect your body if you eat it every day
Signs and progression
Sanfilippo syndrome is a serious disease that affects the brain.
Over time, children lose the ability to speak, walk, and eat. Many do not live beyond their early teenage years.
Certain physical features may be signs of the condition, including thick eyebrows, long eyelashes, and full lips.
Treatment and time pressure
There is currently no cure, but researchers are working on new treatments, including gene therapy in the United States.
Also read: Climate changes are extending allergy season – here’s how to manage the symptoms
According to ITV News, early treatment is crucial because the damage cannot be reversed once it has occurred.
At the same time, British health authorities state that they are working to improve both diagnosis and treatment for rare diseases like this.
Shortly before the child’s second birthday, it was finally confirmed that both parents were carriers.
It then became clear that the child had developed Sanfilippo syndrome, often referred to as childhood dementia.
Also read: Just 11 extra minutes of sleep can make a big difference for your heart
Sources: LADbible and ITV News.
Also read: New study: Japanese people live longer – but not necessarily healthier
This article is made and published by Ida-Marie Palm Varbæk, who may have used AI in the preparation.