Blog

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

Holly

Holly is a very happy 6 year old.  She loves school and learning new things. She especially likes to write stories and to draw.  Holly's school friends are very important to her and she loves to spend time with the playing.  She is also very close to her Nanna and Aunty.  Holly is quite girly and likes dolls and princess dresses.  On the day she came to the studio for her photo session she was very proud of her shiny new shoes and really wanted me to make sure you could see them in the photos!

Holly has Glutaric Aciduria Type 1 which is a genetic metabolic disease in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain.  It is now included in new-born screening but wasn't when Holly was born. 

As it was not diagnosed she suffered brain damage in the basal ganglia part of the brain.  This is the area that affects movement.  It has not affected her cognitive abilities.  For children diagnosed with this condition it is possible to treat it through dietary management and damage can be prevented.

"When holly is ill she is at risk of a crisis (stroke) in order to prevent this we follow a strict emergency plan when she is ill.  This entails stopping all protein and giving her high calorie drinks every 2 hours day and night.  Her temperature must also be very carefully controlled.  If Holly won't tolerate the drinks or is sick she must be quicklyadmitted to hospital to be fed by either nasal gastric tube or intravenously until the illness has passed and she is eating normally. This has meant we try and avoid illness as much as possible and are very careful with hygiene and hand washing. This has had a massive impact on our lives andwas very stressful when Holly was small as she spent a fair amount of time in hospital. Now she is older illness is much easier to manage and she's not been admitted for some time" said her mum Kelly.

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Holly has low tone in all her limbs and is unable to walk unaided but she can get around and walk short distances with the aid of her frame.  Holly's speech can be a little slurred which can make it difficult for strangers to understand her.  Sometimes people will ask Holly's parents a question rather than directing it at her which is frustrating.

In order to prevent further damage Holly is on a strict diet where her protein intake is carefully monitored.  All her protein has to be measured so it does not exceed a certain level.  This can make eating out very difficult and they have to be very strict on what she can or cannot eat. 

"When I look at Holly I don't see her wheelchair or frame.  I see a kind, happy, clever, beautiful girl who I am so proud to call my daughter.  I hope this project can in some way help others to see Holly and other children like her for the amazing children that they are."

The family receive help and support from several charities including Climb, a charity that supports children living with inherited metabolic disease and School for Parents an organisation that provides conductive education and other services to help with mobility and communication issues.

For more information on Inherited Metabolic diseases like GA1 you can contact Climb on http://www.climb.org.uk.

If you live in Nottinghamshire of West Midlands and would like to know more about conductive education you can contact School for Parents via their website http://www.schoolforparents.org/

Another child who has GA1 is Alex.  You can read about him here.