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Updated
Reading 2 mins.
in collaboration with
Andreas Werner (paediatrician)
Medical validation:
April 28, 2023
At just three years old, Florence Swaffield has CLN2 Batten disease. An extremely rare condition, which leads to intellectual and motor decline. Update on this infantile dementia with Dr Andréas Werner, pediatrician.
It is an extremely rare case. Little Florence Swaffield is affected by CLN2 Batten disease – also called Juvenile neuronal ceroid-lipofuscinosis. According to the medical profession, his life expectancy is between six and twelve years.
An incurable disease
For the girl’s parents, it was a long and arduous journey to get the correct diagnosis.
“We tried to make the doctors understand that Florence was not like other children her age, but I felt really inaudible to them.“, tells the mother to the New York Post. “I knew something was wrong but no one was listening“.
And yet: as early as September 2021, Phoebe and her husband noticed that their daughter had trouble walking and eating (she vomited within an hour of eating). She also experiences significant sleep disturbances – and sleeps up to 22 hours a day.
Finally, it is in November 2022, that the diagnosis falls.
The little girl suffers fromCLN2 Batten disease“, a condition that only affects 50 people in the UK.
“Most people have never heard of Batten disease and they wouldn’t think for a moment that their children could develop such dementia, as it is mostly associated with older people.“, says Phoebe.
Moreover, “hasNone of the doctors consulted knew of its existence.“, she added.
A finding that does not surprise Dr. Andreas Werner, pediatrician.
“It is an extremely rare genetic disease, probably of metabolic origin. In 25 years of career, I have never encountered this type of case. Unfortunately, this is the kind of condition for which the cause has not yet been found and, because it is of genetic origin, few treatments exist. The industry does not invest in research, because it is a so-called disease at a loss“, reveals the doctor.
Parents carrying the gene
Shortly after the diagnosis, Florence’s parents learn, not without amazement, that they are both carriers of the gene transmitted to their daughter.
“However, if we know that we carry the gene, it is possible to carry out a “preconception diagnosis” which consists in determining the genetic risks of the embryo. In this way, the parents can control the pregnancy and have the choice to keep – or not – the future sick fetus”, specifies the expert.
In the case of Florence, the outcome is more complicated. In addition to her very low life expectancy, tests revealed that she also suffered from Ververi-Brady syndrome, a condition which manifests itself in mild developmental and speech delay.
At the same time, the little girl loses the use of speech, walking… and also loses her ability to eat/drink alone.
A tragedy for his parents, who however do not lose hope in the face of research: they hope to have recourse to gene therapy (a therapeutic strategy which consists of introducing genetic material into cells to treat a disease, editor’s note) to improve their daughter’s prognosis.
In the meantime, Florence is receiving an enzyme infusion every two weeks. A treatment, which she will have to take for life.