Thank you for taking the time to read about Natalia’s story.

 

Our daughter, Natalia, was born prematurely on August 2024, and was diagnosed with the rare Bohring-Opitz Syndrome shortly thereafter. This condition severely impacts her breathing and overall health, affecting only about 800 children worldwide. Natalia faces imminent challenges, including necessary surgeries like a tracheostomy, GI tube, etc. Her future is uncertain, and medical expenses are overwhelming. After several months in the hospital, she requires ongoing care with no discharge date in sight. Doctors anticipate she may be nonverbal with limited mobility. We appeal to compassionate families for support to manage current and future medical costs. Your generosity means everything to our beloved Natalia.

 

Our angel is bravely fighting to gain weight and grow, facing the challenges of Bohring-Opitz Syndrome, which includes a heightened risk of kidney cancer and uncertain life expectancy. Born premature, she's enduring a difficult journey with ongoing medical needs and upcoming surgeries. Your support during these uncertain days is invaluable as we navigate her care and medical expenses. Every contribution, no matter the size, helps secure Nathalia's future and provides hope during this challenging time. Thank you for standing with us in this journey of love and resilience.

Bohring-Opitz syndrome (BOS) is a rare genetic disorder that affects many parts of the body, including the brain, heart, and digestive system:

Growth: People with BOS are often very small due to severe growth restrictions.

Development: BOS can cause developmental delay and profound intellectual disability. Most people with BOS don't develop typical speech or walking abilities.

Feeding: Feeding difficulties are common, and many babies require early tube feeding. Feeding improves with age.

Seizures: Seizures are common and are usually treated with epileptic drugs.

Heart: Heart anomalies are common, and can include septal defects, patent ductus arteriosus, pulmonary stenosis, and heart muscle hypertrophy.

Brain: Some people with BOS have changes to the brain stem, which controls movement, feeling in the face, and other functions.

Other features: Other features include distinctive facial features, a red or pink birthmark on the forehead or eyelids, and a characteristic posture with bent elbows and angled wrists.

BOS is caused by changes in the ASXL1 gene. It can be inherited in an autosomal dominant manner, but most people with BOS don't reproduce due to developmental and neurological impairments.