Tuberous sclerosis. Iwona Cichosz’s son suffers from this rare disease

A sign language interpreter, non-professional actress, Miss World of the Deaf 2016 and finalist of “Dancing with the Stars” admitted that her son Antoś suffers from a rare genetic disorder. Tuberous sclerosis, also called Bourneville-Pringle disease, is inherited in an autosomal dominant manner with variable expression. This means that the risk of passing a defective gene mutation to a child from one parent is 50%. In most cases, we are dealing with de novo mutations, i.e. newly created mutations of the genetic material that have not previously occurred in the family. In other words, a sick child is the first person to struggle with a given health problem.

How does tuberous sclerosis manifest itself?

Tuberous sclerosis can have various symptoms – mild, mild or severe. Its “hallmark” is the presence of fibromas, colorless moles and non-cancerous tumors in various organs and areas. Changes may appear not only on the skin, but also in the brain, heart, kidneys, lungs and liver. The disease is also accompanied by symptoms of the nervous system, most often epilepsy, delayed psychomotor development and behavioral disorders. Patients also frequently experience cardiac arrhythmias, kidney cysts, hematuria, shortness of breath (related to the presence of cysts in the lung tissue) and retinal astrocytomas.

What is the prognosis for tuberous sclerosis?

Tuberous sclerosis is progressive. Most often, it manifests itself already in early childhood. Due to the complexity of symptoms, patients require care from many specialists in various fields – pediatrics, neurology, nephrology, cardiology and ophthalmology. Currently, no method has been invented to cure the disease. Therapy mainly focuses on eliminating or alleviating the symptoms of the disease, but does not eliminate its cause. People with tuberous sclerosis must remain under constant supervision, even when the disease is mild or has few symptoms. The disease does not drastically affect life expectancy. A large proportion of patients live to old age.

Iwona Cichosz offers support to parents of sick children

In Norway, where Iwona Cichosz lives, women who raise children with special needs are called “lion” mothers. The actress, as she admits, decided to make public information about her son’s illness only three years after his birth, because she had no idea about such matters before. She focused all her energy on fighting for little Antoś’s health. However, now she is ready to share her experiences with other parents of sick children:

I want to fight for a better future for Antek together with you, talking to parents who are in a similar situation to us. I want to show you that despite the difficulties in our lives, we can be happy and enjoy life as much as we can. Despite everything, Antoni is a happy boy who loves discovering the world, loves to laugh and is very open to people. I am very proud of him, how much he worked hard to be where he is now – he emphasizes on Instagram.