Emily’s Story 

Our daughter, Emily, was born in 1997 and is one of the oldest children we know with a diagnosis of CACNA1A. I hope our story brings hope to many. Emily is resilient, funny, kind, and hard-working. She has graduated from high school and a post-secondary college-based program where she learned to work in a daycare center. She likes pink, purple and turquoise, hanging out with her friends and family, painting pottery, dogs, posting on Instagram, and shopping. Like many families of children with disabilities, when Emily was born our lives took on new meaning and we forged a new path. Seeing her accomplish, with great determination, the things that often come so easily to others has been inspirational. She has taught us compassion, empathy and patience. We are blessed with an amazing daughter who has grown into a wonderful young woman. While every day brings new challenges, we look forward to watching her continued growth and success. 

Variant: c.4900G>A (p. Asp1634Asn)
Confirmed Loss of Function Mutation

History 

Emily made having a third child seem so easy…she nursed well, slept well, rarely cried and was content to lie in her crib staring at a mobile while I was busy tending to her three and five-year-old siblings. However, at six weeks old, when she should have started to begin lifting her head from a prone position, she still exhibited the tone of a newborn. My son was seeing an occupational therapist for fine motor delays, so I asked her to look at Emily. The OT lifted her horizontally above her head, as if she was flying, and Emily's limbs drooped downward. First diagnosis ever…low tone/hypotonia! "But it's nothing to worry about," she said. At eight weeks old, Emily's eyes did not follow the pediatrician's light (tracking). That led to our first ophthalmologist appointment and a diagnosis of delayed visual maturation, but again, "very common and nothing to worry about." At six months old, we were referred to a neurologist for an "upgaze" and shivering spells. Emily had her first MRI (delayed myelination in the subcortical u fibers – "just an observation, not a diagnosis"). At eight months old, she had her first seizure. So much for an easy baby! 

And thus began our quest to figure out what was wrong. We were privileged to see some of the very best specialists in the country. Doctors described her as "clumsy." She had global developmental delays, although she eventually reached all of her milestones. Emily endured a muscle and nerve biopsy, MRIs, lumbar punctures, countless blood tests – all to no avail. For years, her only diagnosis was febrile seizures, although at six years old, that became a partial complex seizure disorder. 

When she was 10, we stopped searching for answers. We knew she had epilepsy, speech and language issues, motor planning difficulties, a balance disorder, nystagmus, headaches, and a mild intellectual disability. We just didn't know why. But, we moved on. After all, we had two other children whose lives needed some sense of normalcy. In 2016, after reading an article about the Human Genome Project, I began to think about genetics again. I contacted our neurologist and he offered to enroll Emily into a study on epilepsy genes. When we received the diagnosis of CACNA1A (de novo), I couldn't believe it. Reading about the symptoms…there was our girl! What a relief that Emily's challenges were not the result of something I did during the pregnancy (the Benedryl I once took for a rash/the tuna sandwich I ate for lunch.) Yet, in retrospect, had we had a diagnosis earlier, I don't think we would have done anything differently.

Developmental/Cognitive History

Emily began Early Intervention (Birth to 3) at ten months old. She received PT, OT, Speech/language/oral motor, and academic support throughout her time in school.

• Held her up – 6 months

• Sat unassisted– 12 months

• Crawled – 18 months 

• Walked (wide base and poor balance) – 22 months 

At 3 years old, she was "a whirlwind." She would go from one object to the next, not stopping to play for very long. She loved sensory equipment at the park (slides and swings). She had very little pretend play, although she would give a baby a bottle. She did not have a pincer grasp. She was able to communicate her needs with two-word combinations ("Emi eat"), she kept her lips in an open position and drooled constantly. Her receptive language was at the 27 to 30-month level. She was social, affectionate and strong-willed. 

At 7 years old, she was able to jump, hop one time holding on, and balance briefly on one foot. She still had "poor" fine motor skills. She took her doll in a stroller EVERYWHERE (much to the consternation of her older brother and sister), her oral motor tone was still weak and her speech was difficult to understand, although she persisted in making herself understood. She was socially engaged, friendly and affectionate. Cognitively, verbal language was her most significant area of difficulty. For example, when asked, "What is an apple?" Her response was, "Eat." 

Working memory has always been a strength and comprehension (verbal/reading/vocabulary) is where she struggles most. She enjoys math. She learned to ski in an adaptive program and to ride a bike. To build fine motor skills, we used to play with Hama beads, although now she prefers coloring mandalas. Today, she has developed independent living skills (hygiene, making her bed, laundry, cooking simple meals, and figuring out a tip in a restaurant), although problem-solving, understanding abstract language and comprehension are still areas of difficulty. 

Medical History

Emily has taken medication for epilepsy since she was two years old. Her seizure threshold is lowered by illness, heat and not getting enough sleep, so we work hard to manage those stressors. 

In 2018, Emily had a seizure and an accompanying migraine that lasted 30 days. During that period, she had another MRI (previous one in 2015), which indicated cerebellar atrophy for the first time. Her nystagmus was also more prevalent. She has now been diagnosed with "rebound nystagmus," which means that every time she looks up, down, right or left and then brings her eyes back to center, her eyes "beat." She is often dizzy. Her EEGs have also become much more active, with activity in the bilateral temporal regions. 

With regard to ataxia, approximately twice a month, Emily says she can't "feel her feet" and is unable to walk. In 2016, she lost her balance and tore the medial patellofemoral ligament in her knee, which required surgery. Daily debilitating headaches are considered to be related to her EA2 diagnosis. We have not been able to figure out a trigger or a way to mitigate them.   

Education

Emily attended our local public school until 3rd grade. At that time, we moved her to a small school for students with learning disabilities. She stayed in that environment (small classes, direct, language-based, instruction) through high school.   

Following a post-secondary transition program, at the age of 21, Emily attended the Threshold Program at Lesley University. She successfully lived in a supported environment in Cambridge, MA – attending classes and participating in internships in the community. She came home in March due to COVID-19. We're not sure what her next steps will be, but we know that Emily will choose her path and make us proud.    

For Those Newly Diagnosed 

Know that those feelings of guilt, loneliness, anger…they are all normal! You will grieve. You will lie in bed at night and worry about the future. We all do this. Don't beat yourself up about it. But find a support system. Go for walks and take care of yourself because you need to be at your best for your child. 

When it comes time to write an Individualized Education Plan (IEP) with your school district, remember, YOU are the expert on your child. Fight for what you think he/she needs.