Francesca

Francesca was born on March 5, 2021 in Uruguay. At about 5 months of age, her parents noticed that something was not quite right. Francesca could not hold herself up, was frequently sick, did not sleep through the night and had muscular hypotonia. 

Blood, magnetic resonance and amino acid studies were carried out to determine if all the symptoms were due to metabolic problems. In spite of the studies performed, no answers were found. Next doctors attempted auditory studies, vision studies, sweat studies and continued genetic studies. These studies continued to not provide an answer to Francesca's suffering. For this reason, Doctor's repeated the study of amino acids, which gave an unusual result (high homcitrulline value) - arousing concern of all those involved. 

The specialists stated they were not aware of any other cases of children with this elevated value. They weren't familiar with a disease with this symptom, but thought it could be similar to 'Triple H' disease. 

Francesca's parents Valeria and Aidemar began to investigate on their own in order to help their daughter. They contacted the mother of a child from Argentina who suffered from Triple H. The child's mother gave them the contact of Dr. Consuelo Durán, a neuropediatrician. Francesca and her parents undertook a trip to Argentina to carry out more studies. In Argentina, doctors recommended a complete clinical exome analysis, which was then sent to Spain. After three months, the results and the diagnosis arrived: Francesca has DeSanto Shinawi syndrome.

Francesca is a very happy girl, who continues to progress little by little. She currently attends several treatments, physiotherapy, speech therapy, occupational therapy and psychomotor therapy. She also attends an early childhood education center where she shares her normal education with children her age. At age two, she took her first steps.

At the medical level she is followed by several specialists: a pediatrician, neuropediatrician, ophthalmologist, pulmonologist, infectious disease specialist, endocrinologist and traumatologist. Her family will always do their best to help Francesca live her life to the fullest.

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To learn more about Francesca, you can access this Instagram: https://www.instagram.com/p/CpNMw37uruj/?igshid=MDJmNzVkMjY=