An early diagnosis of autism

The story of the Prat family is a testimony of resilience, unconditional love and the tireless search for answers in the midst of uncertainty. Marc, the youngest son in the family, was diagnosed with autism at the young age of three. His parents, Sofia and Carlos, embarked on a challenging journey from that moment on, dedicating each day to understanding and supporting Marc's unique needs.

Marc, with his infectious smile and love of music, faced difficulties that went beyond the challenges associated with the autism spectrum. Since childhood, his health was compromised by recurrent infections, affecting his ability to interact with the world around him and progress in his cognitive development. Despite multiple treatments and consultations with specialists, answers to his health problems seemed elusive.

An unexpected turn and underlying diseases

The Prat family lived in a constant state of worry, watching Marc regress cognitively with each new infection without understanding the root of the problem. The common interpretation among doctors was that these complications were secondary manifestations of autism, leaving a specific treatment gap for what was really afflicting Marc.

The situation took a turn when Sofía, Marc's mother, visited an immunology specialist who recommended an innovative approach: performing genetic tests to rule out underlying diseases. This test promised to analyze Mar's exome in search of genetic variations responsible for immunological, metabolic and neurological diseases that could be confused with autistic symptoms.

The results of the EXOMA test were revealing. Marc was diagnosed with a rare immunological disease that, although it affected his immune system making him susceptible to infections, was treatable. The disease, characterized by a deficiency in the production of certain antibodies, had remained hidden, camouflaged by the symptoms of autism.

With a precise diagnosis, the Prat family was able to begin specific treatment for Marc's illness, marking a before and after in his quality of life. The infections began to decrease in frequency and intensity, allowing Marc to enjoy a more normalized childhood, progressing in his cognitive and social development in ways that previously seemed unattainable.

It is extremely important not to underestimate physical symptoms in children diagnosed with Neurodevelopmental Disorders, such as autism. Marc's story is a call to action for doctors and parents to consider the possibility of underlying illnesses that, although hidden, can have a significant impact on the lives of these children.

The Exome, the door to a new hope

The Prat family, through their perseverance and the application of genetic advances such as the EXOMA test, found not only answers but also new hope. Her story is a powerful reminder that, in the world of medical diagnosis, looking beyond the obvious can reveal paths to better health and well-being.

The adoption of advanced genetic technologies, such as those offered by Enevia Health in collaboration with the Lorgen Laboratory, is presented as a crucial tool in personalized medicine. By expanding the classic autism phenotype to a much broader phenotype such as the neuroimmuno-metabolic, these technologies open new doors to accurate diagnoses and effective treatments, changing lives and redefining futures. The Prat family's journey is a testimony of what is possible when science and hope meet.

At Enevia we have specialized consulting services and different tests that can guide you in different areas such as neurology, genetics and general medicine, as well as help you make the appropriate decisions and analyze medical examinations to achieve effective treatment for the pathologies that may occur. .

Enter our website www.eneviahealth.com.

If you want more information about the exome, we leave you an article in which we explain genetic concepts, as well as an article from the Department of Psychiatry and Behavioral Sciences at the University of Kansas Medical Center on the association of autism with immunological diseases, genetics and behavioral disorders.

https://pubmed.ncbi.nlm.nih.gov/36980949/

Resolving doubts about genetic concepts

Because at Enevia, we care about your health!