Violet was born on a beautiful rainy day in October. I was told by all the doctors and nurses 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 didn’t meet any of the typical milestones in the guest years of life. 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 was always unsteady, falling 10+ times per day.
Shortly after her 2 year immunizations she had a “drop attack”. She was walking and then just suddenly dropped to the ground for no apparent reason. A couple weeks after that, she had her first paralysis spell during a really horrible flu. Then the paralysis kept coming, episode after episode. 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 several 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, but she also has cyclic vomiting without episode. She has been to the hospital over 30 times for paralysis, but has had countless more episodes than that. We have noticed increased frequency of these paralysis spells when she eats too much sugar, extreme temperature changes, lights, sensory overload 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 Alternating Hemiplegia of Childhood, Familial Hemiplegic Migraine Type 2, and Congenital Muscular Dystrophy with Collagen 6 deficiency.
Violet has always had symptoms of weakness, 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, staring spells, and spastic hand gestures. Sometimes she has tremors and dystonia. She also has autonomic dysfunction that affects her breathing, temperature control, heart rate, blood pressure, and digestion.
At the age of eight, Violet is assessed to be closer to a 12 month old. She is not potty trained and needs full assistance with feeding, dressing, bathing, etc. Her oral function has deteriorated significantly over the years. She now has a feeding tube placed and can only eat puréed food with no texture by mouth. Violet is no longer able to walk or stand, due to severe back to back episodes causing cognitive regression and motor decline. She has significant brain atrophy likely caused by her AHC episodes.
Despite her conditions, Violet is a happy girl. Violet loves to go on car trips, splash in the water, dance, and listen to music. She likes to have her toe-nails painted, do crafts, and play with her siblings. She also really enjoys school and riding her adaptive trike. She is an inspiration to all who meet her, but especially to us, her family.
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.