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 has Glutaric Aciduria Type 1, which is a genetic metabolic disease where 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 - all 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 part of the screening medical protocol of new-borns but was absent when Holly was born.
As it was not initially diagnosed, she suffered brain damage in the basal ganglia part of the brain - the area that affects movement. This, fortunately, has not affected her cognitive abilities. It is possible for diagnosed children to be treated through dietary management where damage can be prevented.
“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.”
Holly's school friends are very important to her and she loves to spend time with them playing. She is also very close to her Nanna and Aunty. Her mother told us she 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!
"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 Metabolic Support UK, a charity that supports children living with inherited metabolic diseases, and School for Parents - an organisation that provides conductive education and other services to help with mobility and communication issues.
"When Holly is ill, she is at risk of a crisis (stroke). In order to prevent this, we follow a strict emergency plan which entails stopping all protein intake 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 quickly admitted to hospital to be fed by either a nasal gastric tube or intravenously until the illness has passed and she is eating normally. As a result, 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 and was very stressful when Holly was small as she spent a fair amount of time in hospital. Now that she is older, illnesses are much easier to manage and she's not been admitted for some time."
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. Her speech can be a little slurred so it can be difficult for strangers to understand her. In some instances, people will then ask Holly's parents the question rather than directing it at her, which she can find 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 her parents have to be very strict on what she can or cannot eat.
FIND OUT MORE
Glutaric Aciduria Type 1
Glutaric Aciduria Type 1 (GA1) is a rare but serious inherited condition. It exhibits through the body’s inability to process certain amino acids ("building blocks" of protein), thus causing a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein-rich foods, meat or fish, into amino acids. Any amino acids that are excessive for the body’s functional needs are broken down and removed from the body.
Babies with GA1 are unable to break down the amino acids lysine, hydroxylysine and tryptophan. These amino acids are broken down into a substance called glutaric acid, which is then converted into energy. Conversely, babies with GA1 do not have the enzyme that breaks down glutaric acid, leading to a harmfully high levels of the acid alongside other, pathway-connected substances in the body.
Without treatment, severe and life-threatening symptoms can develop such as seizures (fits) or falling into a coma. Some children with untreated GA1 are also at risk of brain damage, which can affect muscle movement. This may lead to a multitude of problems with walking, talking, swallowing, etc.
Around 1 in 100,000 children worldwide are thought to be affected by GA1.
For more information on GA1, click here.
For further information on Inherited Metabolic diseases, such as GA1, you can visit the Metabolic Support UK website by clicking here.
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/
Don't forget to visit and 'Like' our Facebook page too so we can keep you up to date with our new rare stories by clicking here