Skylar Rose Foundation

About Skylar Rose

Skylar Rose is a courageous little girl who was born on November 14th, 2017. Shortly after her first birthday, Skylar was diagnosed with Rett syndrome, a rare and severe neurodevelopmental disorder that primarily affects females. Despite the challenges posed by Rett syndrome, Skylar’s spirit shines brightly, inspiring those around her with her resilience and determination.

Mission of the Skylar Rose Foundation

The Skylar Rose Foundation was established to honor Skylar’s journey and to make a meaningful impact in the lives of families facing similar challenges. The Foundation’s mission is to provide financial assistance and support to families with children who have special needs, particularly those affected by Rett syndrome and other neurological disorders.

Our Goals:

Financial Assistance: We aim to ease the financial burdens that come with caring for a child with special needs. This includes helping families cover the costs of medical care, therapies, specialized equipment, and other necessary expenses that may not be fully covered by insurance.
Awareness and Advocacy: The Skylar Rose Foundation is committed to raising awareness about Rett syndrome and other neurological conditions, advocating for better resources, research, and support for affected families.
Community Support: We believe in the power of community. Through various programs and events, the Foundation fosters a supportive network where families can connect, share experiences, and find comfort and strength in one another.

Our Programs:

Community Events:

The Skylar Rose Foundation organizes events to bring together families and the community, fostering connections and providing a sense of belonging. These events also serve as fundraisers to further support our mission.

How You Can Help:

Donate: Your generous contributions enable us to continue supporting families in need. Every donation, big or small, makes a significant difference.
Volunteer: Join our team of dedicated volunteers who help organize events, spread awareness, and provide direct support to families.
Spread the Word: Share Skylar’s story and the mission of our Foundation to raise awareness about Rett syndrome and the challenges faced by families with special needs children.

About Rett Syndrome

Rett syndrome is a rare, severe neurodevelopmental disorder that primarily affects females. It is typically characterized by normal early growth and development followed by a slowing of development, loss of purposeful hand use, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

Key Facts About Rett Syndrome: Cause:

Rett syndrome is usually caused by mutations in the MECP2 gene, which is located on the X chromosome. This gene is crucial for the normal function of nerve cells. While MECP2 mutations are the most common cause, other genetic mutations can also lead to Rett syndrome. Prevalence:

The syndrome affects approximately 1 in 10,000 to 15,000 live female births. It is much rarer in males, as the mutations in the MECP2 gene on the single X chromosome they have often result in more severe conditions that can be fatal early in life. Symptoms:

Rett syndrome typically manifests between 6 to 18 months of age after an initial period of apparently normal development. Key symptoms include: Loss of purposeful hand skills: This often leads to repetitive hand movements, such as wringing, clapping, or tapping. Slowed growth: This includes reduced growth of the brain and head (microcephaly). Loss of speech and motor skills: Affected children often lose the ability to speak and may struggle with walking or other motor skills. Breathing irregularities: These can include hyperventilation, breath-holding, or apnea. Seizures: Many children with Rett syndrome experience seizures. Intellectual disability: Cognitive impairment is common, though the degree can vary widely. Scoliosis: A curvature of the spine may develop as the child grows. Stages:

Rett syndrome typically progresses through four stages: Stage 1 (Early Onset): Between 6 to 18 months of age, early signs such as delays in gross motor skills emerge. Stage 2 (Rapid Destructive Stage): This stage, from 1 to 4 years of age, involves rapid regression of skills and development of characteristic hand movements and loss of speech. Stage 3 (Plateau Stage): From 2 to 10 years, the condition stabilizes; however, seizures, motor problems, and intellectual disabilities persist. Stage 4 (Late Motor Deterioration): Mobility often declines, and children may become wheelchair-bound. This stage can last for many years. Diagnosis:

Diagnosis is based on clinical symptoms, often supplemented by genetic testing to confirm mutations in the MECP2 gene. Treatment:

There is no cure for Rett syndrome, but treatment focuses on managing symptoms and providing supportive care. This includes: Medications: To control seizures, breathing issues, and motor problems. Physical therapy: To maintain mobility and prevent deformities. Speech therapy: Although speech is often limited, therapy can help with communication. Occupational therapy: To help children learn daily living skills. Nutritional support: Special diets or feeding tubes may be necessary due to difficulties with eating. Prognosis:

While Rett syndrome significantly impacts quality of life and lifespan, with appropriate care, many individuals can live into adulthood. The severity of symptoms can vary widely, with some individuals being more profoundly affected than others. Research:

Ongoing research aims to better understand Rett syndrome and develop potential treatments, including gene therapy, which could one day address the root genetic causes of the disorder. Living with Rett Syndrome: Families caring for someone with Rett syndrome often need a comprehensive support network that includes medical professionals, therapists, educators, and community resources. The condition requires lifelong care and management, with a focus on improving quality of life and maximizing the child's potential for development and learning.