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Témoignages

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Courtney
Belfast, Irlande du Nord

Genetics tested Courtney (11 yrs old) throughout her life in London, Newcastle and Belfast and when she reached 10 the doctors came up with the gene ACO2. They cannot fully diagnose her with it but think it’s a good fit for Courtney. They said there is no cure or treatment available and best to keep her happy and comfortable. She has cerebral atrophy, hypotonia (low muscle tone), very floppy head, vision impaired, feeding problems with severe winding throughout the day and struggles to gain weight, neuropathy, scoliosis, hips dislocated and claw toes. Courtney cannot communicate but she can laugh, listen and understand everything. She loves loud sound audio books and music.

@ Gemma & Brendan

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Dajana

Belgrade I Serbie

Dajana had problems with breathing from birth. She needed mechanical ventilation, so she has tracheostomy and gastrostomy tube since she was 6 months old. Genetic tests show two maternally inherited pathogenic variants, and two paternally inherited synonymous variants on ACO2 gene. Dajana is multiply developmentally disabled, brain injured, immobile and blind. She has problems with the digestive system (GERB, Hiatus hernia, CVS, gastroparesis). We wish for a better life for her, without pain. Research is very important for us and other families!

@ Stanislava & Nemanja

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Brooke
 Connecticut | USA

From birth Brooke wasn’t holding her head up as expected and wasn’t rolling and meeting some other key developmental milestones. She started army crawling on her belly about 15 months and did not sit up alone for longer than a few seconds until she was about 27 months. At 3.5 years old she doesn’t say dada and baba much, she says a few other words though and uses signs to help communicate. She has had seizures associated with illness or fever a few times as well strabismus surgery. Her exome sequencing test came back showing ACO2 variant that both her father and I have. She has been receiving speech, physical, and occupational therapy. Doctors cannot say if her symptoms are related to the ACO2 gene. Many of her symptoms seem to occur in people with this variant but she does not seem to be a typical case and is healthy overall. This makes the prospect of having future children very challenging unfortunately.

@ Kristen

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Alissa
Milano, Italie

Alissa is a very lively child, but in our case the ACO2 mutation has been very aggressive. In addition to drug-resistant epilepsy, Alissa has very severe low vision and psychomotor retardation with marked hypotonia in the trunk and neck. She is often very tired, especially in the days when more crises occur, and this made it very difficult to feed her. That is why, during the last hospitalization, she underwent a gastrostomy. Thanks to the internationally renowned Carlo Besta institute in Milan, the mutation has been identified when the little girl was 16 months old. This mutation is still mostly unknown. Greater visibility is really needed, especially at an international level, in order to be able to set up a wide spread fundraising in order to finance research. Alissa's mother left her job and dedicated her whole life to this fight, also by opening the "Il mondo di Alissa" page on Instagram, to raise awareness and make more "noise" about the disability issue.

@ Gloria & Fabio

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