Argentina, South America
Lorenzo is our second child and has an older teenage brother. He was born on September 16, 2009 in Argentina, by normal delivery. The day after his birth we were discharged from the hospital because everything was "perfect".
During his first month of life, our pediatrician alerted us to several facial dysmorphisms and other anomalies in his body and we were referred to a geneticist. After a long consultation with this specialist, we decided to wait a few months to see how he would progress. When we went back to the geneticist we shared photos of the rest of the family and came to the conclusion that his features were due to a "genetic load", as everything else appeared fine. But with the passage of time, he did not develop normally and he did not look us in the eyes until about 10 months old. He also had hypotonia. He began to crawl on his tail at one year and six months old. His first words were close to his second birthday and he managed to walk at two years and six months. He was potty trained during the day at age five, and at night by age six.
We visited many specialists and ran many blood tests including a genetic Karyotype analysis that came back "normal". Lorenzo had three operations as a young child including two for cryptorchidism and one for bilateral strabismus. We treated his symptoms with splints, eyeglasses and eye patches but were still searching for answers. In September 2017, Dr. Canonero, our genetic specialist, asked for a MicroArray analysis. In May 2018 the results came back and Lorenzo was diagnosed with DeSanto Shinawi Syndrome.
Physically, Lorenzo has a flat and wide nasal bridge, long columella, square face, anteverted nostrils, nasal voice, right preauricular fistula, brachydactyly, wide and long palms with horizontal fold, proximal cutaneous syndactyly of both at index and annular fingers. Slight difficulty in the extension of both elbows, straight eyebrows, enophthalmic eyes, thin lips, well marked nasolabial groove, pectum excavatum, umbilicated mammals, syndactyly of the second and third toes on both feet and hypotonia. Lorenzo is very sensitive to loud noises and has trouble concentrating. He is often anxious and finds it difficult to relate to his peers. But he is a happy child! He almost always has a smile on his face, and when he wants something, gives us lots of hugs and kisses with a "please" face that always wins over our hearts. He is so easy to love!
Lorenzo is the first (and so far only) child diagnosed with DESSH in Argentina, and the sixth in Latin America. We are relieved to finally know the cause of his physical, motor, intellectual and behavioral problems after eight long years. We know that we have a long way to go but it is a challenge we endure with the greatest strength, like Lorenzo. After all, "God gives his worst battles to his best warriors."