My son Curren has magical blue eyes and beautiful red hair, which happens to be the rarest eye and hair color combination in the world. But making him even more rare is the genetic disorder he has been diagnosed with. While the numbers have grown since last year's diagnosis, he is currently only one of twelve know in the world with a disease-causing mutation in a gene called HIVEP2. There are not many resources available at this time, and the current management approach is to treat the symptoms, which often include intellectual disability, autism, seizures, sleep disorders, vision problems, speech delays, movement disorders, and developmental regressions.
It has now been a year since Curren's diagnosis - a year filled with soaring highs and defeating lows. Managing a life-altering diagnosis has been overwhelming, and has brought about some striking juxtapositions. I have somehow become both stronger and more fragile at the same time. We have developed an amazing support network of therapists, teachers, and case managers, and yet somehow we feel increasingly isolated. I find myself outwardly expressing a steadfast optimism, but internally I have felt unease since the day of the diagnosis and every day since. I question what more can I do with the waking hours I have, and when will it be too late to make a difference? It is a heavy weight to carry, and the uncertainty of not knowing whether there may be a potential treatment that would improve my son's quality of life if ever available is heart crushing.
As we have navigated this past year, I keep searching for places where there are more children like Curren, and surprisingly, we keep coming up short. At the early intervention center, Curren was the only child in the program who couldn't walk. He is one of the only non-verbal children in his new special needs preschool, and there are no other children in wheelchairs. Some of the specialists we see just toss their hands up with no recommendations and say "see you again in 6 months". Not only is Curren developmentally delayed, but his physical appearance and size is much more like that of a young toddler, so strangers usually refer to him as a baby and are flabbergasted if I tell them he is three. And that leads to perhaps my biggest worry. Curren is a very social child, and he adores interaction with others. He works so diligently to get people's attention and to get them to smile and wave to him. It incredibly charming right now, because he is perceived as a bubbly little baby with a contagious grin. But how will the world treat him when he is 7, 16, or 30 years old and no longer a cute small child? Curren has differences in his brain which cause him to take him longer to react and respond to people, but his intent is there. Will he be left in the dust in this world as our society becomes more impatient and focused on instant gratification?
Through the challenges, a new perspective arises, and it is clear that being a caretaker and an advocate for a child with special needs brings life to a whole new level of richness and beautiful complexity. The emotion that is felt when hearing your child's sweet voice say "mama" after 2 years of trying is indescribable. Watching your son break down in frustration every day for weeks upon weeks makes that giant belly laugh seem like the bees knees. The dark does not destroy the light, rather it defines it. Life is enriched by difficulty, and I am honored to be chosen for this journey.
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.