Gabrielle’s
Story
Gabrielle is an 8-year-old girl from Rhode Island. She LOVES music and books, swimming and bike rides. For Gabrielle’s family, getting a WIKE (www.wicycle.com) has brought so much joy as they all enjoy exploring the outdoors on wheels. Gabrielle has 2 healthy, caring, fun-loving younger siblings - Sydney, age 6, and Charlie, age 3.
According to Gabrielle’s mom, Deborah, “Gabrielle has certainly taught us to enjoy the many blessings that life brings. Every time she has a health emergency, all the small worries of the world melt away.”
Variant: A713T
Gain of Function
History
Gabrielle was born in 2013. It was a mostly uncomplicated pregnancy and delivery apart from a breech presentation and oligohydramnios (too little amniotic fluid), resulting in a c-section at 37 weeks gestation. Gabrielle breastfed like a champ at 20 min of life. She had a very typical first few months, eating and sleeping well.
At 2 months of age, we started to notice that she wasn’t making proper eye contact. At 4 months, she didn’t roll. She was delayed across the board her first year. Yet, she continued to make progress and was able to sit with assistance at 8 months and stand while holding on to furniture at 10 months. At 11 months of age, she was assessed by Early Intervention and found to be delayed across social, fine motor, gross motor and communication skills. Her therapist at the time recommended that she get a brain MRI. I remember being offended at this suggestion as we hadn’t even begun therapy and I was certain that with therapy, Gabrielle would make great gains in skills. 1 week before she turned 1 year old she had her first seizure. The seizure lasted over 1 hour and resulted in her being intubated due to such high levels of sedation used to stop the seizure. She was admitted to the PICU and it took several days before she would make eye contact with us and had returned to her baseline. She had a brain MRI at that point and we were told there was evidence of Periventricular Leukomalacia.* Even with her global delays, an hour-long seizure and an abnormal MRI, we were told Gabrielle likely had a febrile seizure and not to worry.
Gabrielle continued to have status epilepticus events and was placed on numerous different antiepileptics. She was seen by specialists at 18 months of age and was able to have Whole Exome Sequencing. She was 22 months old when she was diagnosed with a CACNA1A mutation resulting in epileptic encephalopathy. We were told she was one of 8 kids in the world with this type of mutation. At 24 months of age, she was given the diagnosis of Autism.
From 2 to 6 years of age, Gabrielle continued to have difficult to control seizures that landed us in the ER like clockwork every 10-12 weeks. Her status events would last anywhere from 1 to 3 hours. During these years, she ended up trying a total of 6 different antiepileptics. She also continued to have a variety of different types of seizures develop. After turning 5 years old, she had a Vagal Nerve Stimulator placed. From age 6-7, her status events increased to monthly ER visits due to status. After turning 7, in December of 2020, we decided to begin a trial of Verapamil. Just yesterday, we celebrated 1 year of NO ER VISITS!
Apart from Gabrielle’s epilepsy, she has global delays, autism and ataxia. She did not walk until 3.5 years old. She is non-verbal and we have not found a form of communication yet after trying sign language, PECS and an AAC device. It seems that her development dramatically slowed after developing epilepsy at 1 year of age.
We have been blessed to know the MOST AMAZING people in the world- therapists and doctors, nurses and babysitters that have poured out their love to Gabrielle and our family.
*Periventricular Leukomalacia is damage and softening of the white matter, the inner part of the brain that transmits information between the nerve cells and the spinal cord, and from one part of the brain to another. It is associated with cerebral palsy, developmental delays and learning disabilities.
Diagnoses
CACNA1A – Epileptic Encephalopathy
Global Developmental Delays
Autism Spectrum Disorder
Ataxia
Therapies
Gabrielle began Speech therapy, physical therapy and occupational therapy at 12 months of age and ABA at 27 months of age. We started hippotherapy at 3.5 years old.
ABA, Hippotherapy, PT, OT and feeding therapy have all been helpful for Gabrielle. She really struggled with eating after age 2. She became very selective and would reject the majority of foods offered. We had several years of OT feeding therapy and now she ENJOYS eating! She loves spicy food, seafood, sushi, steak, and of course, desserts!
Gabrielle currently is receiving 40 hours a week of ABA plus 1 hour a week of hippotherapy. Her ABA center also has OT services.
For Those Newly Diagnosed
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