Rare Diseases Aren’t Always Visible

Not all rare diseases are immediately visible to people but that does not make them any less serious or important. Grace is one such child who is taking part in the Rare Project by Same but Different. This photographic project is designed to raise awareness of the people behind rare diseases and their conditions. Grace’s mum recently told photographer Ceridwen Barkley about her daughter’s condition.

Grace’s smile and bubbly personality hides the fact that at such a young age she has already been through so many challenges. She is a perfect example of a child who outwardly looks as if she is in perfect health and yet she has multiple issues. Starting at her head, she has a brain injury called PVL, Periventricular leukomalacia, her spine finishes above her sacrum, Sacral Agenesis (SA), around T12, her spleen is on the wrong side, she has a heart murmur and she had a cyst on her lung which was removed, her intestines were rotated but that was also fixed (at 7 days old)! As a result of her SA the nerves which control her bowels and bladder didn’t ever develop and so she is incontinent. She currently in pull ups. She has low muscle tone in her legs and talipes – poss due to the SA or the PVL no one knows. When thinking about her issues, we have always been told to “wait and see”.

As of today her PVL has caused some developmental delay, she can’t do her buttons and seems a lot younger than she is. She is also “wobbly” again not sure why, one doctor has suggested that while her vision is 20:20 she may have difficulty processing what she sees.

So how does this affect us, well to be honest it kind of doesn’t! I know that probably doesn’t make sense, but it is just life with Grace for us. The other morning I told her to drink her milk to help her bones grown she asked me if her spine will grow……

Grace is a wonderful child whom we love very much. We encourage her to try everything and allow her to make her own decisions (within reason!).

The Rare Project by Same but Different is such an important thing helping people to understand, not to be scared and make them realise that Grace is the same as her peers in so many ways. She has the same hopes and fears as her friends!

More info: samebutdifferentcic.org.uk

Rare Diseases Aren't Always Visible