Sophie was born at 33 weeks at a mere 4 pounds. After over a month in the NICU, Sophie’s family was given the news that she was finally able to go home. But, something wasn’t quite right. “Once we were home, Sophie was always crying, didn’t want to eat, was constantly stretching to her right and was gasping for air,” shares Jesenia, Sophie’s mom. “At first, doctors thought she just had acid reflux, but a mother’s instinct told me something was wrong.”

It was then that Sophie began having seizures. “Everything took a turn. Sophie started having seizure after seizure,” says Jesenia. “We didn’t know where they were coming from because she didn’t have any trauma to her brain.”

At 10 months old, Sophie was diagnosed with TBCK syndrome, a genetic intellectual disorder that can have an impact on things like speech, motor development, the respiratory system, and can cause epilepsy. “In a way, the diagnosis gave us peace of mind because we finally knew exactly what was wrong,” shares Jesenia. “We knew how to properly treat her.”

After three surgeries and getting a tracheostomy tube, Sophie was transferred to the S.S. La Rabida. “At La Rabida, Sophie gets a lot of therapy. She is doing so well here,” says Jesenia. “The staff here has given us so much hope.”

Since arriving at La Rabida, Sophie has made great improvements.

“Sophie is not having the seizures that she would before,” shares Jesenia. And for a child who once relied on a ventilator around the clock, Sophie is making strides to breathe on her own. “She’s now off the vent for about 7 hours throughout the day and has been able to communicate with us a lot more.”

These improvements are helping with Sophie’s overall development. “She is much more active and is very alert when people speak to her. Sophie is sleeping through the night as well – she didn’t do that before. I can tell that she is very, very happy here,” shares Jesenia.

Having been at La Rabida for nearly four months, Sophie has become a part of the La Rabida family.

“When I can’t be here, I know that she is in good hands,” says Jesenia. “My anxiety level has gone way down knowing that she is in such a positive, safe environment. I have peace of mind knowing that she is safe. Being at La Rabida has been the best experience. I don’t want to leave!”

This story was featured in the February 2020 issue of eCurrents, La Rabida's monthly newsletter. To view the February issue of eCurrents, click here.