Our beginning
The inspiration for the Angels & Friends Foundation is a cheerful and spirited child named Ali. Ali was born in Saskatoon, Saskatchewan on November 02, 2011. At 14 months of age, Ali began experiencing seizures. After persistent investigation by her parents and medical team, Ali was diagnosed with Angelman Syndrome in July 2013.
Ali’s diagnosis introduced an entire new world to Ali's parents, family members and friends. Through frequent hospital stays and weekly medical and therapy appointments, Ali's parents have been introduced to many wonderful people and organizations that strive to make the lives of those with intellectual disabilities better.
Unfortunately, Ali's parents have also been exposed to the reality of families and individuals that struggle both emotionally and financially with raising an intellectually disabled child. Extended hospital stays, medical appointments and intense therapy schedules take a toll on both these children and their families, and often these brave and courageous children miss the opportunity to experience the simple joys of childhood.
“When my daughter was first diagnosed with Angelman Syndrome, people would tell me how sorry they were. At the time I would say thank you and it would bring me comfort that people cared. Now, if I could turn back time, I would apologize to my daughter every time someone said sorry to me. I’m sorry I never understood what it would be like to raise a child that could teach me more in life then I could ever teach her.”
Angelman’s syndrome
Angelman Syndrome (AS) affects approximately 1 in 15–20,000 live births worldwide. It is a severe neurological disorder characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy.
AS is an example of genomic imprinting since it is caused by the deletion or inactivation of genes. It is a genetic-based disorder resulting from the loss of function of the UBE3A gene in the brain, which prevents neurons from functioning correctly and leads to deficits in learning and memory. Loss of this gene does not appear to affect neuronal development, indicating that neurons could function normally if UBE3A function were to be restored.
Those living with Angelman’s Syndrome do not develop functional speech and experience persistent debilitating seizure disorders that are difficult to treat. Other common symptoms include feeding disorders in infancy, often persisting throughout childhood, and sleeping difficulties. AS may be misdiagnosed since other syndromes have similar characteristics.
Angelman Syndrome requires life-long care, intense therapy and close medical supervision, often involving multiple medical interventions.
Individuals with AS tend to have a happy demeanor, characterized by frequent laughing, smiling, excitability and hand flapping. Many individuals are attracted to water and take great pleasure in activities like swimming and bathing. They are sometimes referred to as "angels" because of the syndrome name and their youthful and happy appearance.