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This project has brought many supportive ideas regarding the issues and impacts disabilities have on an individual scale as well as a social/family and friends scale. Firstly, this project provides me(and my partner) with information regarding a specific genetic disorder. It teaches on an  informational basis. Additionally, the project’s emphasis and focus is on the analysis of the impacts a disorder can have upon an individual and their social groups. From the research done on people’s lives with AGS and understanding impacts it has, it supports the idea that they are still human and are still loved regardless.

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This activity was very informative and I thoroughly enjoyed it. It has helped me understand further on how people’s lives can be completely different when having a disorder, and that it can also affect their loved ones as well. When one person has a disorder, it can impact more people than you initially think. It has also made me appreciate how fortunate my life is as I do not have to face specific challenges that others do, but also, this activity has allowed me to realize the importance of the smallest things in life. Affected individuals of a condition still find ways to enjoy life, and I found that an inspiring reminder that no matter the circumstances, we still construct ways to be happy.

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We each did part of the background research and part of researching personal experiences so we both got to understand the disorder, and recognize the individual experiences affected individuals and their loved ones face. Mel did the basic information, mutations and citations, and researched Claire's personal experience as well as the challenges Leighton and Dollie's parents faced from their childrens’ conditions.  India researched symptoms and treatment, read about Luke’s experience, and Leo’s mother’s view of her son having AGS. All the information was discussed together to ensure both of us had complete understanding of what was researched. The information was put into the padlet together and arranged to look aesthetic and easy to follow.

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Rachel had an operation to help reduce her seizures and to become more mentally aware, which has been showed to have been very effective. Her parents are delighted to see her more energetic and happy.

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It is important to realize we are all human. We don't define people by the disorders they may have, and we treat everyone the same. We should empathize and care as well was be aware and respect affected individuals, as we understand further on their experiences. We also should acknowledge how the affected individuals' loved ones are impacted by coming to know someone they care for has a disorder. We should applaud at how they overcome challenges with specific conditions, whether it may be physically, emotionally, mentally, or financially.

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It is important to realize we are all human. We don't define people by the disorders they may have, and we treat everyone the same. We should empathize and care as well was be aware and respect affected individuals, as we understand further on their experiences. We also should acknowledge how the affected individuals' loved ones are impacted by coming to know someone they care for has a disorder. We should applaud at how they overcome challenges with specific conditions, whether it may be physically, emotionally, mentally, or financially.

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(“AGS Americas”)

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Calcification in white matter of the brain (right)

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Calcification in white matter of the brain (right)

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chest physiotherapy and treatment for respiratory complications

specific accommodations for dieting and feeding - ensure adequate nutrition and proper calorie intakes

standard anticonvulsant medications for seizures

Evidence of glaucoma in the first few months of life, and evidence of scoliosis, diabetes, and underactive thyroid through observation

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(Lowry)

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(Hodgekiss)

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(“AGS Americas”)

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(American Journal of Neuroradiology)

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“Aicardi-Goutieres Syndrome Information Page | National Institute of Neurological Disorders and Stroke.” Www.ninds.nih.gov, 27 Mar. 2019, www.ninds.nih.gov/Disorders/All-Disorders/Aicardi-Goutieres-Syndrome-Disorder-Information-Page. Accessed 22 Feb. 2021.

“AGS Americas | Meet our Kids.” AGSAA, www.agsamericas.org/meet-our-kids/. Accessed 23 Feb. 2021.

American Journal of Neuroradiology. “Fig 2.” American Journal of Neuroradiology, 27 Mar. 2021, www.ajnr.org/content/30/10/1971/F2. Accessed 27 Mar. 2021.

Lowry, Lauren. “Leo | Life with Aicardi-Goutieres Syndrome.” Macy Gilson, 2 Sept. 2019, www.macygilson.com/shared-stories/leo. Accessed 23 Feb. 2021.

Hodgekiss, Anna. “Brother and Sister Have Rare Disease That May Kill before Adulthood.” Mail Online, 28 Mar. 2016, www.dailymail.co.uk/health/article-3512197/Parents-devastation-children-diagnosed-rare-terminal-disease-s-likely-kill-adulthood.html. Accessed 23 Feb. 2021.

“Rachel’s Life with Aicardi Syndrome.” Www.youtube.com, 26 May 2016, www.youtube.com/watch?v=PgbuzEtQ3KA. Accessed 28 Mar. 2021.

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She is trying to focus on the positives rather than the negatives and has been reading on the subject to ensure she makes as many memories with her kids as possible. She is prepared for the future as she knows her daughter may not make it past 5 years of age with the seizures she experiences every day, and knows the amount of hospital visits in the future such as with mobility when her son gets older.  The family aims to set up their own charity to help other families with those suffering from AGS.

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After finding out the news, the first few days were dark, in which he didn’t talk to anyone and he struggled to comprehend the fact his children would not live longer than he would. It was the worst feeling in the world to him. Once they brought Dollie home, some warning signs were that she never cried, and then after a while, she stopped feeding. She’s now fed through a tube and has to take medication.

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Leighton diagnosed at 4yrs
Dollie diagnosed at 9 months

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"After he was born, he made odd jerking movements which the doctors ignored, but the parents followed their instincts so they went back to the doctor to have an MRI scan. This resulted in a crying doctor telling the news Leo’s myelin was not developed and he had a brain bleed. He lost the ability to swallow safely and was not meeting his milestones as a child. 10 months later he was diagnosed with AGS and the doctors said his life expectancy was 10 years. Currently, he is a social happy boy, and has taught his parents that communication isn’t always in words and sentences, but that facial expressions, noises and movements play a role. He has the same likes and dislikes kids would have, but people still assume he isn’t cognitively aware because he is nonverbal in a wheelchair." Leo understands what people say and do, and his mum wishes that the world will treat him no differently than another little boy.

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He loves the people in his life and is loved by everyone else

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She loves music, food and people

She's extremely happy to be fortunate to eat properly through the mouth

She loves vanilla ice cream

She adores musicals

She loves the people in her life: whenever someone comes by her house she drives her wheelchair to the window to wave and greets them with a big smile

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Early-onset = severe

Affects roughly 20%  of babies with AGS

Born with neurological and liver abnormalities (liver and spleen enlargement, elevated liver enzymes, etc.)

Late-onset = less severe

Visible symptoms after week or month of normal development

Initial symptoms:

Progressive decline in head growth

Weakness or stiffness of muscles (spasticity)

Cognitive and developmental declines ranging from moderate to severe

General symptoms: after initial symptoms

Irritability

Inconsolable crying

Inconsistent fevers

Seizures

Loss of developmental skills

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AGS1 and AGS5 → mutation in the TREX1 gene

AGS2 → mutation in the RNASEH2B gene

AGS3 →  mutation in the RNASEH2 gene

AGS4 → mutation in the RNASEH2 gene

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Lives in Texas

AGS Type 1, Trex 1 mutation

He can't sit up, walk, talk, or use his hands

Enjoys what most kids his age likes: cartoons, toys

Has many friends at school

Has a pediatrician and many specialists

Neurologist, physical medicine doctor, gastroenterologist (has a g-tube), opthamologist (has glaucoma and have had several surgeries to correct that), and pulmonologist.

Goes to physical, occupational and speech therapy

He has a respiratory vest and suction machine - helps with his breathing as he gets congested easily

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Lives in Chicago

She has AGS Type 5 - not known till age 15

She goes to school in a wheelchair and uses an assistive communication device

She sees a physical therapist twice a week, and an occupational  and speech therapist once a week

Checks in regularly with an orthopedist, an endocrinologist, a gastroenterologist, a neurologist, and an ophthalmologist

Over the years she has been hospitalized and had a few surgeries

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Inherited encephalopathy (damage/disease to the brain)

Autosomal recessive

Affects newborn infants

Result in severe mental and physical handicap

Hard to diagnose because symptoms are similar to those of other disorders

Diagnoses are based on MRI  brain scans → search for brain abnormalities