Parents of Lagos child with rare genetic disorder appeal for help

Constança Nobre is a brave two-year-old girl from Lagos who was diagnosed last November with KAT6A syndrome, an extremely rare genetic neurodevelopmental disorder.

Little Constança is unable to walk and talk and currently undergoes several treatments in her hometown.

Her parents are planning to sign up for an eight-week intensive physiotherapy treatment at Braga’s Centro de Estimulação Intensiva (Centre of Intensive Stimulation) which could tremendously aid her development.

The issue is that it is extremely expensive, costing nearly €11,000. Her parents simply cannot afford it and have thus launched a campaign entitled ‘Morning Smile with Constança’, which aims to raise the needed amount through donations and bottle cap collections.

Another goal is to raise awareness about the syndrome, which is still not fully understood.

“As it is a genetic disorder that was only recently discovered, we need to talk about it so that it receives more attention from the medical community and spurs more research,” Constança’s mother Anadá Filipitsch told the Resident.

What is known so far is that the syndrome affects each child differently.

Common symptoms include speech delays, development issues, trouble eating, eyesight problems, diminished muscle tone (hypotonia), sensorial deficiencies, serious gastrointestinal issues, heart anomalies and convulsions – the only symptom Constança hasn’t yet experienced.

Despite her condition, “Constança wakes up smiling and spends a good part of the day smiling”.

She undergoes several respiratory, occupational and speech therapies in Lagos, where she is treated by Dr Tânia Camilo from the Técnifisio physiotherapy clinic, and is due soon to begin a hydrotherapy treatment with the support of Lagos Council.

However, most of these therapies are not subsidised by the government, which is why Constança’s parents have decided to appeal for support.

Anyone can help by making a donation via bank transfer (NIB: PT50 0045 7021 40299725 113 72) or instead delivering bottle caps to GiiHome store in Lagos on Rua Infante Sagres.

More information is available on the campaign’s Facebook page: ‘Morning Smile with Constança’ (click here)

There are only 281 known cases of KAT6A syndrome in the world. The condition results from a mutation in the KAT6A gene. Visit www.kat6a.org to learn more.

By MICHAEL BRUXO
michael.bruxo@algarveresident.com