Aiyla's Fight Against Rett Syndrome

My darling niece, Aiyla, has recently been diagnosed with both Rett Syndrome and Trisomy X (Triple XXX Syndrome). Her parents, my sister Jenna and her partner, Will, are now facing a lifetime of treatments, appointments, and full-time care. There is only one other report of this double diagnosis.

Based on her current diagnosis, Aiyla will need 24/7 care for the rest of her life and early intervention is critical. Her medical team cannot confirm Aiyla's current stage of Rett Syndrome or whether she will continue to regress. Aiyla is currently receiving Early Intervention through public care, but it is inconsistent and not the level of expertise that Aiyla needs, due to her rare diagnosis.

Rett Syndrome is a rare genetic neurodevelopmental disorder that primarily affects females. Rett syndrome is characterized by typical psychomotor development for the first 6-18 months, a short period of developmental stagnation, a period of rapid regression in language and motor skills then developmental recovery or stabilization.

Rett syndrome can include seizures, agitation, scoliosis, poor weight gain, spasticity, sleep disturbances, vision changes or hearing loss, constipation, gastrointestinal reflux, and osteopenia. Currently, treatment is mainly symptomatic with ongoing support of an individual’s development to optimize their abilities.

Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills (NORD National Organization for Rare Disorders).

Jenna and Will need our help - so I am asking on their behalf. They are looking at a liftetime of Aiyla needing the following care, and more:

Physical Therapy

Occupational Therapy

Speech Therapy

Music Therapy

Chiropractor

Naturopathy

Biomedical Treatment

Orthotics (every 6 months)

Arm Braces

Please consider donating for our beautiful Aiyla, so that she can live her best life (which she deeply deserves) despite this devastating diagnosis. Thank you!