NINA

“She has always had a very particular and unique interest in all things bird related, and loves reading books and playing “pretend” with people she knows very well and trusts. She dislikes light, loud noises, balloons, and finds it unsettling to be in small crowded places. She loves placing herself in other people’s shoes, and imagining fictional scenarios for those people that she acts out and adores hearing stories at night”.

Nina and her family came to the studio to take part in the Rare Project and talk to us about their experience of Nina’s rare condition.

“Nina suffers from extreme photophobia, a variety of gastro-intestinal problems, development delay and she is visually impaired. It was only in July 2015, when Nina was already nearly three years old, that the rheumatology team at the Great Ormond Street found an abnormality in Nina’s Adam 17 gene that could explain all her symptoms. The abnormality of the Adam 17 gene is believed to increase pro-inflammatory cytokine production, possibly leading to her symptoms, and is the only known registered case in the medical literature. But this diagnosis is under question, with further genetic screenings due to take place to try and find out more about her case”.

Due to Nina’s extreme photophobia and difficult eating habits, her social life has been severely affected and she is unable to participate in many of the outdoor activities that other children participate in. She even struggles in indoor activities where the light is too bright. Due to the severe pain she suffers from her condition Nina must take a daily anti-inflammatory injection and a variety of medicines which has meant that eating food is also painful for her. Her days are spent eating and drinking very small amounts of food at constant intervals, so she can get the nutrition required for her development.

“Nina is limited in her capacity to travel abroad, because of the number of medicines we need to take with us, including her daily injections, her special formula and other medicines that need to be refrigerated. Her sleeping patterns have been severely affected as well because she is not exposed to sunlight due to her photophobia. The doctors believe that her melatonin levels are affected meaning she is unable to sleep well at night”.

“We feel that the majority of people do not understand the complexity of Nina’s condition, and therefore do not take her needs into consideration when dealing with her. We have also heard a lot of jokes from the public about the fact that Nina wears sunglasses - using public transport, walking on the streets, etc. While we have grown used to it, and even take it in good humour ourselves, we worry how people will treat her when we are not around to offer comfort or protection.

It is important to reach as many people as possible regarding rare conditions so that it no longer becomes a taboo subject. If it was embraced, explored and understood by the public, this would lead to greater acceptance of the need to accommodate those who have rare conditions with empathy, humanity and more resources to cover their special needs”.

FIND OUT MORE

Find out about some of the other children we have featured in the Rare Project by clicking here.