Aurelia Nelson, age 3 ½, is one of about 600 people worldwide to have been diagnosed with the genetic disorder Smith-Magenis syndrome. (Photo by Claire McGranahan)
When my husband, Keith, and I were falling in love, we would walk the streets of Santa Monica, California, daydreaming about our future. We wanted to have three children. He was going to be a stay-at-home dad and I was going to become an international human rights lawyer and save the world.
Over the years, dreams and reality collided. His career as a forensic architect took off, and we moved across the country, eventually settling in Richmond in July 2013. I became a stay-at-home mama to one, two and then three little girls. When our youngest was born, we immediately began to understand that something was unusual about her. Aurelia was struggling, using most of her energy just to breathe. She underwent dozens of tests and examinations, leaving us with a long list of what it wasn’t. Over time, there were developmental delays, more health problems and more tests that ruled more things out. At age 14 months, a blood test that could show a variety of chromosomal abnormalities came back with a result that surprised even our geneticist: Smith-Magenis syndrome (SMS).
It’s a rare and random condition, a genetic disorder caused by a deletion or mutation on the short arm of the 17th chromosome. Only about 600 cases have been diagnosed worldwide, but scientists estimate that as many as one in 25,000 could have the syndrome, many misdiagnosed or with no diagnosis at all due to lack of awareness. Many doctors have never heard of it.
Common symptoms include low muscle tone, developmental delay, sleep disturbance, sensory processing difficulties, vision and hearing problems and behavioral challenges such as intense meltdowns and self-injurious and aggressive behaviors. Individuals with the syndrome often have a lack of safety awareness and process pain differently than others, resulting in an inability to describe or even feel it. They also frequently have an affectionate nature, a great memory and sense of humor, are highly inquisitive and have a proclivity for technology. Because genetic testing only recently became sophisticated enough to identify SMS, much is unknown and research is still very much needed.
Parenting a child with special needs is like entering a new world, sometimes a lonely one. Either Keith or I are nearly always with Aurelia. She needs constant supervision due not only to her young age, but because of her behaviors, lack of safety awareness, and mobility and communication challenges. Finding a babysitter qualified to handle the difficulties Aurelia faces is tough, so we don’t go out without her; her hypersensitivity to sound and activity means we have to limit exciting or noisy events to keep her calm, and always have a plan for a quick exit. When she’s feeling stressed, her meltdowns are loud and disruptive, and people don’t always understand what they are seeing or how to respond.
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Keith and Megan Nelson with their daughters, from left, Aurelia, Ani and Aria (Photo by Courage + Co Photography)
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Keith and the girls walk in Robious Landing Park. (Photo by Courage + Co Photography)
Though there is a close-knit group of special-needs families in our area, Richmond is limited in its resources. We’ve struggled to find good doctors for her; the lack of a dedicated children’s hospital is frequently cited as the reason for high turnover among the best specialists. There are wonderful physical, occupational and speech therapists, but other therapies and inclusive preschools and activities are hard to find. For example, the nearest inclusive gym is an hour away, there is no aquatic therapy for kids still in diapers and our public school system doesn’t offer inclusive classrooms for 3-year-olds with Aurelia’s level of need. Few private preschools are equipped for students with disabilities, and those that are willing to admit them require parents to provide their own aide for the child. Determined to provide Aurelia with the experience of learning and playing alongside other children, but unable to find an aide, I accompany Aurelia as her aide at a private inclusive preschool. I love that I can do this — help her to be included in a school that benefits her and see her thrive among typically developing peers — but I would also love for her to have the opportunity for independence and to have a bit of a break for myself.
During the rare day without an appointment, we stay home, giving her a chance to just be a kid or spend time with her sisters.
Overshadowing the challenges, always, are the light, love and joy that Aurelia brings to our lives. Her accomplishments bring huge smiles to our faces and tears to our eyes, for we know how hard she’s worked to get there. Just a few months ago, Aurelia started walking without her walker, an accomplishment that took months of intensive therapy.
Her speech is blossoming and is getting clearer all the time; she’s finally putting four-word phrases and short sentences together. Recently, at 3 1/2 years old, Aurelia said, “I love you” for the first time. The day she said it, I’d decided to break it down, using a separate sign for each word instead of one sign for the whole phrase. I repeated it throughout the day, not knowing if she was really interested. Emotions are tough to identify for any toddler and tougher for kids with Smith-Magenis syndrome. That afternoon, as she lay on the bed giggling and playing with me, I said and signed it again and with a big grin she said and signed it back and then said it again five more times. I fought tears and gave her a huge hug.
I realize now that I never should have doubted her understanding of love or her ability to share it. The words are sweet to hear, but they don’t create love, they describe it, something she’s been doing all along.
Love is tiny kisses and big hugs and giggles when Daddy tickles her neck. Love is needing to “see Mama” when she’s upset. Love is toddling down the hall each night to tell her sisters goodnight. Love is hearing her laugh at their antics and hearing them cheer on her first steps.
Looking at our life with this in mind helps me see more clearly just how much love our family has for each other and how much love we have been shown since Aurelia’s diagnosis.
Love is families dealing with the same diagnosis taking us under their wings, helping us to navigate the unknown. Love is the fellow special needs mama at physical therapy coming to hug me with tears in her eyes after seeing Aurelia’s meltdown, then telling me I’m doing a good job.
Love is the look of solidarity that my husband and I give each other as we pass in the hall, both exhausted and in need of a shower, as we each go to care for a different child.
Love is the friend who brings us dinner or picks up our big girls when Aurelia is having a bad day. Love is the friend who is there even when I don’t have much left to give in return.
I still feel very new to the world of special-needs parenting. I have so much more to learn about Smith-Magenis syndrome and Aurelia, in particular. Yet the gift of SMS is already becoming clear: It teaches us not only to love better but to recognize the love that is all around us, even when we feel alone. It shows us that love is there, even when the words aren’t.