January 2015, our long awaited miracle daughter Mia was born. For the first two and a half years of life she hit her milestones and was a happy, thriving little girl. Bubbly, and social, she loved to explore the world around her. However, by late summer of 2017 she began to experience changes in behavior, a sharp decline in language, strength and dexterity, and was challenged with GI issues, sleeping troubles, and vision impairments. Initially diagnosed with ASD, we resolved to do everything we could to help her learn and thrive. She was enrolled in the wonderful Pre- K program at Building Bridges in River Edge, NJ that helped her to do just that, thrive.
Two weeks after Mia’s 4th birthday, our family received results from genetic testing. This provided a heartbreaking clarity on the cause of Mia’s condition and her unique characteristics. Mia has a rare mutation in her MECP2 gene, otherwise known as RETT Syndrome (or RTT). This diagnosis explained the late onset of her physical and behavioral decline.
RETT Syndrome is a rare progressive neurodevelopmental disorder that affects almost exclusively girls. 1 in approximately 10,000 girls are affected. Hallmark symptoms of RETT Syndrome may include, loss of speech, loss of purposeful use of hands, loss of mobility and muscle tone, panic attacks, tremors, seizures, heart arrhythmia and breathing issues. One significant symptom that affects our daughter’s daily life is apraxia, which leaves her frustrated and anxious at times.
“Apraxia is a condition characterized by the inability to perform learned (familiar) movements on command, even though the command is understood and there is a willingness to perform the movement. Apraxia can affect movement but also communication skills.”
With new therapies, communication devices, and strategies in hand, we are ready to tackle the complexities of this disorder. We hope to preserve our sweet, adventurous daughter and help her soar to even greater heights. Our strongest hope is driven by the fact that we now know the gene to be targeted and that there could be a cure, reversal, or treatment that could help her in her lifetime.