Tuberous sclerosis has recently become known thanks to a social media post by Iwona Cihosh. See what kind of disease it is.
Sign language interpreter, non-professional actress, Miss Deaf World 2016 and Dancing with the Stars finalist admitted that her son Antos suffers from a rare genetic disease. Tuberous sclerosis, also known as 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 of the parents is 50%. In most cases, we are dealing with de novo mutations, i.e. newly emerged mutations of genetic material that have not previously been found in the family. In other words, a sick child is the first person who encounters a particular health problem.
How does tuberous sclerosis manifest itself?
Tuberous sclerosis can have a different course - mild, asymptomatic or severe. Her “calling card” is the occurrence of fibromas, colorless moles and non-cancerous tumors in various organs and areas. Changes can appear not only on the skin, but also in the brain, heart, kidneys, lungs or liver. The disease is also accompanied by symptoms from the nervous system, most often epilepsy, psychomotor retardation and behavioral disorders. Patients also frequently present with cardiac arrhythmias, renal cysts, hematuria, dyspnoea (associated with cysts in the lung tissue), and retinal astrocytomas.
What is the prognosis for tuberous sclerosis?
Tuberous sclerosis progresses. It most often manifests itself in early childhood. Due to the complexity of the symptoms, patients need the help of many specialists in various fields - pediatrics, neurology, nephrology, cardiology and ophthalmology. Currently, no method has been invented that would cure this disease. Therapy is aimed primarily at eliminating or alleviating the symptoms of the disease, but does not eliminate its cause. People with tuberous sclerosis should be constantly monitored, even if the disease is mild or asymptomatic. The disease does not significantly affect life expectancy. Many patients live to a ripe old age.
Iwona Cihosh offers support to parents of sick children
In Norway, where Iwona Cihos lives, women who raise children with special needs are called “lion moms.” The actress, as she herself admits, decided to publish information about her son’s illness only three years after his birth, because before she had no head for such cases. She concentrated all her energy on the struggle for the health of little Antos. However, now she is ready to share her experience with other parents of sick children:
I want to fight with you for a better future for Antek, talking to parents who are in the same situation as us. I want to show you that despite the difficulties in our lives, it is possible to be happy and enjoy life as much as possible. Despite everything, Anthony is a happy boy who loves to explore the world, loves to laugh and is very open to people. I am very proud of him, of how hard he worked to get to where he is now, he emphasizes on Instagram.
Source: Wprost
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