My daughter Violet is currently 5 years old. She has two older siblings Saiyan and Azura. Violet loves to go on car trips, splash in the water, and tell everyone in the grocery store that she loves them. She spreads so much love everywhere she goes. She even gets strangers to say “I love you” back to her without batting an eyelash.
Violet was born on a beautiful rainy day in October. I was told by the doctor that she was a perfectly healthy baby girl. In the hospital just after delivery, however, there were times where she would scream, blood curdling screams, and nothing could console her. This was different from a normal baby cry. It was high-pitched and painful. That is the moment that I truly knew in my heart that something was going on with her, but doctors continued to say she was fine. When trying to breastfeed, she would get a perfect latch and then for no apparent reason just let go. I now know that her mouth muscles were too weak to nurse.
Violet has always had symptoms of weakness, mytonia, hypermobility, joint stiffness, global delays both mentally and physically, along with sensory processing disorder. She has irregular eye movements where one eye will randomly turn out to one side or occasionally cross, and spastic hand gestures. At the age of five, she is assessed to be closer to a 15 month old. Violet has difficulty walking. She gets up from the floor using Gower Sign and walks with a wide gait. Violet uses a specialized walker and a wheelchair to help her maintain mobility with her varying degrees of weakness.
Violet didn’t meet any of the typical milestones. She was unable to sit up unassisted until about 8 months old. When she still wasn’t walking at 15 months, the doctors finally took note and referred her to a neurologist. She stood up at around 2, but typically held onto something and wouldn’t let go. She finally walked at 2.5 years old, but has always been unsteady, falling 10+ times per day. She is not potty trained as of yet, needs assistance with feeding, dressing, bathing, etc.
Shortly after her 2 year immunizations she had a “drop attack”. A couple weeks after that she had her first paralysis spell during a really horrible flu. Then another and another. They used to be far apart and lasted 1 to 2 1/2 weeks at a time. Now they occur every 2 weeks or more frequent, sometimes every day to every other day and last hours to days typically. Often the paralysis leaves her completely limp, like a newborn baby, unable to hold her head up. Other times it is not as severe. She often experiences nausea and vomiting with these episodes. She has been to the hospital over 30 times for paralysis, but has had more episodes than that. We have noticed increased frequency of these paralysis spells when she eats too much sugar/carbs, extreme temperature changes, fatigue or when she is coming down with an illness. Often the cause is unknown.
It took a long time and many tests to get a definitive diagnoses. She has had multiple MRIs, CT, lumbar puncture, blood tests, muscle biopsy, and more. She even had samples sent to the CDC, thinking that she might have had the polio-like virus. After the full exome sequencing, it was found that she has a mutation on both the Col61A gene and novel new mutation on ATP1A2. She has been diagnosed with Familial Hemiplegic Migraine Type 2, Alternating Hemiplegia of Childhood, and Congenital Muscular Dystrophy with Collagen 6 deficiency.
Everyday is a journey to an unexpected place with all these disorders, but when Violet smiles, it dissipates all your fears and fills you with love.
Violet gives us all so much joy. She has taught us how to love so deeply, as well as patience, living in the moment, and how to live life more purposefully.