Determined to find answers, we pursued multiple therapies and medical evaluations. Over the next several months, she underwent a wide range of tests, including an endoscopy, MRIs, and neuromuscular genetic panels. After about eight months of testing and therapy, whole exome genetic testing finally provided clarity. One month later, Lucia was diagnosed with Rett Syndrome, a rare neurological disorder.

 

The diagnosis was devastating for us and brought a period of grief for the future we had once imagined. At the same time, there was some relief in finally understanding what was happening. We quickly shifted into learning mode – researching Rett Syndrome, connecting with specialists, and reaching out to other families. Sharing Lucia’s diagnosis with friends and family was emotional, but the outpouring of support from the community has helped us navigate this difficult journey.

 

Today, Lucia is a happy, giggly 21-month-old. While she has begun to show early signs of regression associated with Rett Syndrome, she has not yet developed the more complex medical symptoms. Her days are filled with simple joys – morning snuggles and reading books, especially lift-the-flap stories. Breakfast is her favorite meal (yogurt is a must), and she attends daycare where she enjoys music with her teachers and recently reached the milestone of eating school lunches. Twice a week Lucia attends therapy sessions, including feeding, speech, occupational, or physical therapy. She works incredibly hard and has built strong relationships with her therapists. Evenings are usually spent playing outside, walking the family dog, or watching Ms. Rachel before her favorite part of the night, bath time, and bedtime.

 

We recently connected with Ward’s Foundation and are hopeful about the support and community it offers. While Rett Syndrome is rare, we know families navigating rare diseases often share a powerful bond. As we continue this journey, we look forward to connecting with others and learning from families who have walked similar paths.