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Alessandra was diagnosed with Rett syndrome on February 10, 2022 -one of the hardest days of our lives. She had typical development up until 18-19 months old, when she slowly began to lose skills she previously had. At first, it was very subtle -it was harder to gain and keep her attention and she stopped gaining language and started losing language. She experienced a developmental regression, and over the next several months, she slowly lost function in her hands, some of her physical strength and mobility, all of her spoken language, among many other things, and eventually was diagnosed with Rett Syndrome.
One of the hardest parts of this disorder has been to watch her lose skills and abilities, especially during a time when she should be gaining them. It has been heartbreaking to watch her lose the ability to speak, to be able to play with her favorite toys, to think that one day she could possibly lose the ability to walk. She has also developed ongoing medical problems, including GI issues, autonomic dysfunction that affects her breathing, involuntary bruxism, muscle weakness and dystonia. Last year she underwent g-tube surgery after struggling to gain weight despite eating well. We continue to navigate specialist appointments, medical equipment, and weekly therapies, including speech therapy, occupational therapy, and physical therapy.
But Rett Syndrome is only one part of Alessandra's story.
Alessandra is AMAZING! She faces challenges with incredible strength, resilience, and determination. She is sweet, gentle, loving, funny, goofy, SO smart, and has the brightest, most contagious smile. She loves books and music and has an adventurous little spirit that brings so much joy to our lives.
We are incredibly grateful for everything she can still do and every new skill she gains. She can walk, has limited use of her hands, and has learned new ways to communicate, including with an eye-gaze device. We will never take these abilities for granted.
There is currently no cure for Rett syndrome—but there is so much hope. Research continues to advance, with clinical trials exploring new treatments, including gene therapies. We hold onto hope that these advances may one day transform life for Alessandra and everyone living with Rett syndrome.
We are raising funds and awareness to help advance research toward better treatments and, ultimately, a cure.
Thank you to everyone who has supported Alessandra and our family along the way. Your love and support mean more to us than we can say.
What is Rett Syndrome?
Rett syndrome is a debilitating neurological disorder that leads to severe impairment and affects nearly every aspect of life, including the ability to speak, walk, eat, and even breathe. It particularly affects speech, purposeful hand use, and coordination, leaving individuals trapped in their own bodies, understanding more than they can communicate. Caused by a gene mutation, Rett is first recognized in infancy and occurs primarily in girls, with a growing number of males now being identified.
About Rett Syndrome Research Trust. This incredible organization is dedicated to curing Rett Syndrome, a neurological disorder that impacts so many lives. They are the largest funder of Rett research worldwide, tirelessly working to advance genetic medicines that target the root cause of this condition.
Your contributions will make a significant impact, helping us achieve our ambitious goals:
- Funding groundbreaking gene therapy programs currently in clinical trials.
- Supporting innovative research partnerships with leading genetic medicine scientists and companies.
Together, we can bring hope to countless families affected by Rett Syndrome. Please join me in this quest for a cure and donate today. Your support truly matters!