The Story
This hip and happy teen is Paige. Paige is a very happy child that loves her family and pets! She enjoys going to school and hanging out with her typical peer buddies! She gets very excited when she sees the bus arrive to pick her up in the mornings. Paige also enjoys running errands with mom and dad on the weekends, especially to the store, because she really enjoys watching them swim around in the big tanks. Paige giggles at her brother all the time when he makes funny sounds and faces at her. Her giggle warms your heart and brings smiles to those around her.
Paige was born on September 28th 2002. There were no complications with birth and all her development seem to be going well, until at Paige's 4-month checkup. Paige's pediatrician could no longer feel her soft spot and was afraid the sutures in her head had closed up. Skull x-rays were ordered along with a referral to a neurosurgeon.
At 5 months of age an MRI showed an insult to the brain, which more than likely happened in early utero. Which meant, there was no way to know what caused it. To better understand her abilities and treat her, geneticist performed several tests, which all came back negative leaving her family desperate for answers.
Paige was given many individual diagnoses and was treated by a number of specialists including a Neurologist, Geneticist, Gastroenterologist, Ophthalmologist, a Urologits, Endocrinologist and an Orthopedist. She was also seen for speech, occupational, physical and vision therapies.
"Paige giggles at her brother all the time when he makes funny sounds and faces at her. Her giggle warms your heart and brings smiles to those around her."
They treated her for several conditions including Esotropia (crossed eyes), Encephalopathy, Choreoathetosis (Movements), Severe Receptive and Expressive Language Disorders, Cerebral Visual Dysfunction, Partial Complex Epilepsy, Allergic Rhinitis (seasonal allergies), Feeding Problems, GERD, Anemia and Eosinophilic Esophagitis (EE-inflammation or swelling of the esophagus).
It wasn't until new Exome testing was available in 2015 that they were able to look at Paige's DNA, finally received a diagnosis: FOXG1 Syndrome. FOXG1 Syndrome is a rare neuro-developmental disorder caused by a mutation of the FOXG1 gene, which impacts brain development and function. This severe condition is characterized by seizures, inability to control body movements, and lack of speech. While the spectrum of abilities is quite broad depending on the exact genetic mutation, many of the children diagnosed with FOXG1 cannot walk or talk, and struggle to communicate their most basic daily needs. It is possible for parents to be carriers, but most cases of FOXG1 are non-inherited and have no family history. There is no cure for the FOXG1 Syndrome, but with medications, physical and speech therapy and nutritional support to help manage symptoms and prevent complications, a stable quality of life can be achieved.
