Neurofibromatosis takes away childhood❗ Support Kajetan❗.

First signs of illness

The first worrisome symptoms appeared when Kajetan was still an infant. His skin showed numerous "café au lait" spots, and his early childhood was accompanied by episodes of apnea, during which a bluish tinge appeared around his mouth, heralding that his body was struggling with something invisible to the naked eye.
Reduced muscle tone, along with subtle neurological abnormalities, steered doctors toward an increasingly detailed diagnosis.

Final diagnosis

Genetic consultation confirmed the clinical picture of neurofibromatosis type one. The MLPA test performed showed no abnormalities in the NF1 gene, but specialists stressed that such a result does not rule out the disease, as it does not include point mutations.

The diagnosis was therefore based on the clinical picture, which included numerous skin lesions, neurological abnormalities and a number of symptoms characteristic of the course of NF1.
From that moment on, it became clear that the boy's daily life would require multispecialty care and constant vigilance.

Years in which the disease unveiled its successive faces

In 2020, Kajetan was placed on intensive observation. Neurologists described multiple café au lait spots, macrocephaly and decreased muscle tone, which led to an expanded diagnosis.
A year later, the presence of symptoms characteristic of NF1 was confirmed, andongoing follow-up with a neurologist, ophthalmologist, ENT specialist, orthopedist and physical therapists was recommended.
The following months brought important imaging results. MRI of the head described FASI-type lesions involving the globus pallidus, thalamus, midbrain and cerebellum. These lesions are typical of NF1 and require regular monitoring.

Deepening the picture of the disease

Subsequent MRI scans showed progression of FASI lesions and the appearance of new foci. The disease began to involve more and more areas of the nervous system.In addition, decreased auditory conduction, visual impairment, balance disorders, worsening postural abnormalities and L5 S1 vertebral protrusion were found.
The new imaging results indicated the need for further neurosurgical consultations and to remain under the constant care of physicians, as the development of the lesions was dynamic and required full vigilance.

As the months passed, subsequent MRIs described the enlargement of existing foci and the appearance of lesions requiring further observation, confirming the complex nature of the disease.

The disease began to change everyday life

November 2025 brought one of the most difficult moments. Kajetan was brought to the pediatric neurology department after having epileptic seizures that lasted about five minutes. The EEG performed confirmed changes consistent with seizures, and doctors introduced anti-seizure treatment.
At the same time, FASI lesions , conductive hearing loss, visual impairment, macrocephaly and features of motor disorders persisted , affecting the eight-year-old's functioning every day.

Daily life under control of the disease

Kajetan's life has been subordinated to the rhythm set by examinations, consultations, rehabilitation and hundreds of kilometers traveled between clinics. The boy's mother, who is raising him alone, makes some of his appointments privately, as the waiting time under the National Health Service does not allow for continuity of treatment for such a complex disease.
Kajetan is learning a daily routine that requires him to be more attentive than what childhood usually demands. Health problems introduce anxiety and the need for constant supervision. Despite this, Kajetan remains a boy curious about the world, sensitive and ready to face each day with what is not easy.

Help that gives hope

The support will maintain continuity of treatment, provide access to specialists and give Kajetan a chance to function with a greater sense of security and stability.