Tell us about yourself and the patient in your life:
Savannah is 6 years old and lives in Ohio. She is the sweetest, happiest, most loving little girl. No matter what she goes through, she always has a smile on her face. Savannah’s favorite things, are hugs, paper, moana, her service dog Liv and spending time with her siblings.
Savannah started seizing the day she was born. She has always had a severe form of epilepsy. She failed 3 AEDs before she was even 3 months old. We have tried over 17 AEDs, including the VNS and the Ketogenic diet. Savannah goes into status epilepticus frequently. Because of her frequent status, she was trached when she was 4 years old. Along with her trach, she also has a VNS, GJ tube, Port and vesicostomy. During, Savannah’s seizure free days, her trach is capped and she POs all her meals.
Savannah is nonverbal, but very social. She loves interacting with people. She used to have a few signs and would say mama and my Dada, but due to status epilepticus, she has lost these skills. Most days Savannah is ambulatory. She started walking independently right before her 3rd birthday. Though Savannah walks, she is unable to walk long distances or transition surfaces.
What is your hope for the future for your loved one:
My hope is that we can find a treatment for SMC1A, so Savannah can live a happy, healthy, seizure free life.