Aicardi-Goutieres Syndrome by Aimelanie HAMAZAKI

Aicardi-Goutieres Syndrome by Aimelanie HAMAZAKI https://padlet.com/212444/gkljqia998tbaxvu Mel and India en-us 2021-03-26 06:38:36 UTC 2024-10-31 18:02:56 UTC hello@padlet.com 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356190529

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

]]> 2021-03-26 06:44:06 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356190529 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356192147

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

]]> 2021-03-26 06:45:28 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356192147 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356192383

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

]]> 2021-03-26 06:45:43 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356192383 189252 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356193860

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

]]> 2021-03-26 06:46:56 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356193860 189252 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356200457
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

]]> 2021-03-26 06:52:10 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356200457 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356215797

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

]]> 2021-03-26 07:02:10 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356215797 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356219366 2021-03-26 07:04:48 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356219366 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356220771 2021-03-26 07:05:50 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356220771 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356221883 2021-03-26 07:06:33 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356221883 189252 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356225112 He loves the people in his life and is loved by everyone else]]> 2021-03-26 07:08:31 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356225112 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356243885 "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.]]> 2021-03-26 07:20:26 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356243885 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356246850 2021-03-26 07:22:20 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356246850 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356248796 Leighton diagnosed at 4yrs
Dollie diagnosed at 9 months]]> 2021-03-26 07:23:35 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356248796 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356251154 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.]]> 2021-03-26 07:24:58 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356251154 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356252547 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.]]> 2021-03-26 07:25:38 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356252547 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356253841 2021-03-26 07:26:22 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356253841 Works Cited 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356260602 “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.

]]> 2021-03-26 07:30:20 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356260602 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1356294989 2021-03-26 07:49:49 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1356294989 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360692806 2021-03-28 03:40:42 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360692806 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360693900 2021-03-28 03:42:36 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360693900 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360694331 2021-03-28 03:43:19 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360694331 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360694669 2021-03-28 03:43:53 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360694669 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360695285 2021-03-28 03:44:53 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360695285 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360695584 2021-03-28 03:45:23 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360695584 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360695628 2021-03-28 03:45:28 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360695628 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360696718 2021-03-28 03:47:08 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360696718 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360697378 2021-03-28 03:48:09 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360697378 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360697402 2021-03-28 03:48:11 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360697402 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360701365 2021-03-28 03:54:22 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360701365 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360714220 (American Journal of Neuroradiology)]]> 2021-03-28 04:14:00 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360714220 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360714814 (“AGS Americas”)]]> 2021-03-28 04:14:59 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360714814 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360715236 (Hodgekiss)]]> 2021-03-28 04:15:40 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360715236 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360715567 (Lowry)]]> 2021-03-28 04:16:11 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360715567 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360716334

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

]]> 2021-03-28 04:17:23 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360716334 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360717437 2021-03-28 04:19:00 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360717437 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360720562 2021-03-28 04:23:35 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360720562 Calcification in white matter of the brain (right) 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360722672 2021-03-28 04:26:44 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360722672 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360729614 (“AGS Americas”)]]> 2021-03-28 04:37:02 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360729614 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. 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360734001 2021-03-28 04:43:08 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360734001 Rachel and Her Parents 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360750788 2021-03-28 05:08:15 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360750788 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1360753376 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.]]> 2021-03-28 05:12:09 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1360753376 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1366616471 2021-03-30 03:43:10 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1366616471 Separating Workload 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1366678175 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.

]]> 2021-03-30 04:19:10 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1366678175 Mel 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1366680029 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.

]]> 2021-03-30 04:20:31 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1366680029 India 212444 https://padlet.com/212444/gkljqia998tbaxvu/wish/1366681025 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. ]]> 2021-03-30 04:21:15 UTC https://padlet.com/212444/gkljqia998tbaxvu/wish/1366681025