Gabriela is 14 years old and lives in Caratinga, MG, Brazil.  She is the youngest of four siblings.

Gabriela’s pregnancy and birth were normal.  During her first two years, she developed as expected: she sat up, crawled, and walked following typical developmental milestones. However, her motor coordination was delayed— for example, she was unable to pedal a bicycle. We also noticed a delay in her speech. At two and a half years old, she began working with a speech therapist, and later with a psychologist.

When she started school, we realized that her learning was impaired. We took her to a neurologist, and at five years old, she was diagnosed with intellectual disability.

In addition to speech therapy and psychology, we added occupational therapy, therapeutic horseback riding, ballet, and educational support. However, we still did not have a definitive diagnosis.

We changed doctors several times and eventually pursued genetic testing. At age ten, through an exome sequencing test, Gabriela was diagnosed with Ogden syndrome.

Today, Gabriela continues with ballet, educational support, and speech therapy, as her speech is still affected. She has also started practicing Pilates. She loves cold water—swimming and even playing in the rain.

She attends school according to her age and is in the 9th grade, although she is still at the early stages of literacy. She interacts well with her phone. She is a joyful and communicative girl who loves hugging people and talking to everyone. She enjoys making friends and loves going to school. She also enjoys going out, taking walks, going to the movies, and buying books.

Gabriela is already an aunt and absolutely loves her nieces and nephews! She loves animals, especially cats. She has received her First Communion and is now preparing to receive Confirmation.

Portuguese:

A gravidez e o parto da Gabriela foram normais. Ela é a caçula de quatro irmãos.

Durante os dois anos iniciais evoluiu dentro do esperado: sentou, engatinhou e andou seguindo os marcos de desenvolvimento infantil. Porém a coordenação motora estava atrasada – por exemplo, ela não conseguia pedalar. Também notamos um atraso na fala. Aos dois anos e meio ela começou com a fonoaudióloga, depois psicóloga.
Quando iniciou o período escolar, notamos que o aprendizado estava prejudicado.
Levamos ao neurologista e ela foi diagnosticada com deficiência intelectual aos cinco anos.
Além da fonoaudiologia e psicologia, adicionamos terapia ocupacional, equoterapia, ballet, psicopedagoga. Mas ainda não tínhamos um diagnóstico concreto.
Mudamos de médico algumas vezes e finalmente fizemos uma pesquisa genética e com o exame Exoma, aos dez anos, recebemos o diagnóstico Síndrome de Ogden.
Hoje Gabriela continua no ballet, psicopedagoga, e fonoaudiologia, pois ainda tem a fala prejudicada. Também começou a frequentar o pilates. Ela adora água gelada, nadar e tomar banho de chuva.
Estuda, de acordo com a idade, no 9° ano, porém ainda está no início da alfabetização. Interage bem com o celular. É uma menina alegre, comunicativa, adora abraçar as pessoas e conversar com todo mundo, gosta de fazer amigos. Gosta muito da escola. Adora sair, passear, ir ao cinema, comprar livros. Já é titia e adora os sobrinhos!. Gosta de animais, principalmente gatos. Já fez a primeira Eucaristia. E, agora, está se preparando para receber a Crisma.