A Lagos mother is campaigning to raise awareness about the syndrome KAT6A, which her daughter Constança suffers from.
Anadá Filipitsch has created the Facebook page kat6aportugal, to explain the extremely rare syndrome caused by a gene mutation.
The symptoms of this disease are, severe speech disorders, stunted child development, feeding problems, vision problems, hypotony (visual problems), sensory problems, severe gastrointestinal problems, cardiac anomalies and seizures.
Despite pre-natal scans no one picked up on Constança’s condition until she was born and doctors noticed she had a deformed nose and she was not feeding properly.
She had a heart operation at six months of age and was found to have microcephaly, and was diagnosed in November 2019 with KAT6A.
There are just over 250 individuals with this diagnosis in the whole world but Anadá has already met two other families in Portugal who are dealing with the condition. Each situation is unique, but all of them require a therapeutic, educational and medical intervention that involves support of various kinds, often costly.
Constança is now two but doesn’t talk, doesn’t walk and has autism (she has all the symptoms of KAT6A apart from convulsions). She does however smile a lot, so her parents have named her personal FB page Morning Smile With Constança. She also loves her big sister Carlota and always responds to her voice.
Her father José António Soares Nobre is a house painter and Anadá a designer at Gii Home so they cannot afford her first intensive physiotherapy treatment, at CHS – Intensive Stimulation Centre – in Braga. in the same way as Vicente, (featured on page 30) the family can pay for medical help with bottle tops, or you can make a donation.
Bottle tops can be delivered to the Gii Home store, Rua Infante Sagres 95/97 in Lagos. Or Anadá can be contacted through her Facebook page.