Blog

Through the Rare Project we introduce you to the people behind their rare conditions.

Rare Beauty - Isabella

Isabella is full of energy with a mischievous side. Due to her facial paralysis she struggles to be expressive but has her own unique way of showing when she is happy or sad.
 
Isabella was diagnosed with Moebius Syndrome at 8 months old. A rare congenital disease which causes paralysis in some of the cranial nerves. This means Isabella is unable to frown, smile or blink, she is also unable to move her eyes from left to right, which affects her co-ordination and balance. When Isabella was younger she was fed through a feeding tube and had low muscle tone and vocal palsy, so she never really cried or made any noise. She also has Hydrocephalus which means she has excess fluid on her brain, although they are not sure if this is caused by Moebius Syndrome.  Her mother, Carla explains what impact the condition has had on their family and why awareness of rare diseases is so important.

‘When Isabella was a baby she was in the special care baby unit because of her feeding issues.  She was extremely poorly and the doctors used to give us the worst case scenario.  Each time I went in I did not know what would be waiting for me.  They were initially concerned that she might never leave hospital but slowly she improved and was well enough to go home. 

The hospital did not give us a diagnosis and it was only through my own online research that I came across moebius syndrome when she was around 8 months.  It sounded just like her symptoms and so I took the information to the Dr and they agreed that Isabella had moebius.

Isabella has Moebius Syndrome

Isabella has Moebius Syndrome

When a condition is extremely rare, as is the case with Moebius Syndrome, there is not always a support organisation to offer advice and guidance when someone is diagnosed. 

'The impact on us as a family has been huge.  I am constantly worried about the future.  When you have a child you are always thinking about what they will be when they are older, who are they going to look like and so on.  Now my worries are different and it really does turn everything upside down.

Before she was diagnosed I always knew something was wrong, Jed used to say she was perfect but deep down I knew something was not quite right.  She didn’t move like other babies, she didn’t move her eyes, she didn’t cry, she didn’t do any of those things.  When we got a diagnosis and started telling family they took it really well but I don’t think they really understood what it meant.  I think maybe they thought it would get better but to me it was as though my world had fallen apart.

Isabella's mother, Carla

Isabella's mother, Carla

'My health visitor was a huge support.  The impact of her diagnosis was huge for me and I really struggled and was just at a loss about what to do.  I didn’t step outside the door for what must have been two years.  The health visitor really helped me by putting me in touch with the right people to support us

Awareness of rare diseases is extremely important for the general public and health professionals.  People can be curious about Isabella’s condition and that is fine.  I am happy for people to approach me and ask rather than stare.’

The family wanted to take part in this project to help break down barriers.  

Recognising that families affected by Moebius Syndrome often struggled to receive joined up care, Alder Hey Children's Hospital have set up a Moebius Syndrome clinic which brings together medical professionals from different services including plastic surgery, speech therapy and neurology.  This service is led by Dr Adel Fattah.  You can read about Dr Fattah here.

The Rare Beauty project has been designed to encourage people to want to know more about what is happening in the images.  We have introduced beauty into every day scenes that people with rare diseases find themselves and through these images we will tell the story of the people, their families, friends and hospital staff involved in their care.  We are grateful to Alder Hey Children's Hospital for their assistance. 

If you wish to discuss this project or reproduce any images or story please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)