Bored Panda works better on our iPhone app
Continue in app Continue in browser

BoredPanda Add post form topAdd Post
Tooltip close

The Bored Panda iOS app is live! Fight boredom with iPhones and iPads here.

This Little Girl Has A Disease So Rare She Is The Only One To Be Diagnosed With It
User submission
34
3K

This Little Girl Has A Disease So Rare She Is The Only One To Be Diagnosed With It

ADVERTISEMENT

Nina is an extremely affectionate, selfless, imaginative and gentle child – shy to strangers but extroverted to loved ones. 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.

More info: samebutdifferentcic.org.uk

Nina suffers from extreme photophobia and a variety of gastro-intestinal problems, and has a development delay

She is visually impaired. It was only in July 2015, when Nina was already 2.8 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.

Nina’s condition means that she has extreme photophobia and so has to wear sunglasses at all times

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.

ADVERTISEMENT

Due to Nina’s extreme photophobia and difficult eating habits, her social life has been severely affected

ADVERTISEMENT

She is unable to participate in many of the outdoor activities that other children participate in, or even in indoor activities where the light is too bright. Additionally, she must take a daily anti-inflammatory injection and a variety of medicines, due to the severe pain she suffers from her condition, 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

Her condition really restricts what she can do. Nina is also limited in her capacity to travel abroad, because of the number of medicines she need to tke with her, including daily injections, her special formula and other medicines that need to be refrigerated.

ADVERTISEMENT

Nina often plays in low light conditions so it does not hurt her eyes

Her sleeping patterns have been severely affected as well, because she is not exposed to sunlight, due to her photophobia

Doctors believe that her melatonin levels are affected and therefore she is unable to sleep well at night.

Nina loves all things bird related

ADVERTISEMENT

She and other children with rare conditions are taking part in the Rare Project

Which is created by photographer Ceridwen Hughes who set up Same but Different.

It is important to reach as many people as possible regarding rare conditions, so that it no longer becomes a taboo subject, but something that is embraced, explored and understood by the public

ADVERTISEMENT

Leading to greater acceptance of the need to accommodate those who have rare conditions, with empathy, humanity and more resources to cover their special needs

3Kviews

Share on Facebook
Ceridwen Hughes

Ceridwen Hughes

Author, Community member

Read more »

Ceridwen Hughes is a photographer who specialises in movement photography and portraiture. Ceridwen also runs a not for profit organisation, Same but Different, that has been established to use the arts to raise awareness of disability and counteract prejudice.

Read less »
Ceridwen Hughes

Ceridwen Hughes

Author, Community member

Ceridwen Hughes is a photographer who specialises in movement photography and portraiture. Ceridwen also runs a not for profit organisation, Same but Different, that has been established to use the arts to raise awareness of disability and counteract prejudice.

What do you think ?
Add photo comments
POST
DariaB
Community Member
8 years ago DotsCreated by potrace 1.15, written by Peter Selinger 2001-2017

What a lovely little girl. I wish her and her family all the strenght and luck in the world, to move forward and get better.

Banana Pundae
Community Member
7 years ago DotsCreated by potrace 1.15, written by Peter Selinger 2001-2017

I hope... No I KNOW she will be really able to do anything she puts her mind to

DariaB
Community Member
8 years ago DotsCreated by potrace 1.15, written by Peter Selinger 2001-2017

What a lovely little girl. I wish her and her family all the strenght and luck in the world, to move forward and get better.

Banana Pundae
Community Member
7 years ago DotsCreated by potrace 1.15, written by Peter Selinger 2001-2017

I hope... No I KNOW she will be really able to do anything she puts her mind to

Related on Bored Panda
Related on Bored Panda
Trending on Bored Panda
Also on Bored Panda