On June 13, 2024, Violet and Carlos welcomed baby Caya into the world at Cedars Sinai Hospital. After a healthy pregnancy and delivery, Violet was relieved to bring baby Caya to her chest to nurse and rest together. When the medical staff left the room to give the new family of three some private time to bond, Caya nodded off, and moments later Carlos noticed her lips were purple and her face was blue. Rushed off to the NICU, Caya was immediately connected to life-saving respiratory support, and would stay this way for months. When awake, Caya appears healthy and alert, but once she nods off, Caya’s CO2 levels rise and her oxygen levels drop. After weeks of intensive testing, MRI's, cardiograms, and EKGs, nothing provided any conclusive insight as to what was going on with Baby Caya. Cedars Sinai said there was nothing more they could do, and Caya was transferred to Children’s Hospital Los Angeles, where Carlos and Violet travel 1 hour, each direction, every day to be with her. After over a month of the unknown, now intubated and with a feeding tube, genetic testing finally revealed the cause. Caya has a life threatening, extremely rare (less than 1200 confirmed cases world wide) genetic disorder called Congenital Central Hypoventilation Syndrome. (CCHS) Which, both Carlos and Violet do not have the gene markers for. This disorder affects the body’s ability to control basic functions, such as breathing during sleep. Right now, CCHS is a lifelong condition, and there is no cure. While it was a relief to finally know what was going on with Caya, the path forward is long and arduous. First Caya will need to have a tracheotomy surgery to permanently place a breathing tube in her neck for external mechanical breathing support. During that surgery her medical team will also place a feeding tube into her stomach where it will stay, until Caya is old enough to get all of her nutrient needs from solid foods. After this intensive surgery, Caya will be sedated and put into a medically induced coma for a week, so that her body can heal from the trauma of surgery. If all goes well, Caya will remain in the hospital for another 4-8 weeks (depending) to heal and recover. During this time, Violet and Carlos will receive education and workshops on how to provide Caya the care she needs at home, and how to properly outfit their home and vehicles to accommodate Cayas around the clock medical needs. Violet and Carlos have undergone tremendous emotional stress and will be facing unbelievable financial challenges once their sweet baby girl is finally home. Bringing a new baby into the world is a physically, emotionally and overwhelming task, even when everything goes as planned. It is never easy to ask people for help and support, but as Violet and Carlos prepare for a different and unexpected path forward, the challenges will be impossible to overcome alone. Any funds donated to Caya’s care will go towards exorbitant medical bills, new at home medical equipment and supplies, physical occupational, and speech therapy, daily in home ventilator nurse assistance, home and vehicle modifications for updating utilities to accommodate medical equipment, likely home relocation to a ground level apartment, income loss from work leave during her NICU stay, surgeries, hospital stays, rehabilitation, income loss due to child care, and individual and couples counseling/therapy for emotional support. Our hope is that donations will alleviate some of the stress on this new beautiful family, so that Caya can get strong, and grow up to live a full and joyful life. Because CCHS is so rare, there hasn’t been much research dedicated to this disease. Some researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS. More research and testing is necessary to provide proper treatment and hopefully cure the disease. For more information and to support continuing research, check out the CCHS Network at https://cchsnetwork.org/
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