Archer's Journey

Yesterday afternoon as I drove home from dropping Arch off at preschool a feeling of solitude wrapped me in joy. As the sun shined through my window, the silent air filled with solemn breath. I was alone! I slowly shifted down into second gear to make the final turn towards home and I smiled to myself, of the blissful moment that has been waiting its turn so patiently. Walking in the door I see the daily calendar. I'm a day late, so I pill off the paper to reveal the days message. It reads " Do you have the patience to wait until your mud settles and the water is clear? " Here I am folks, Hello, I've missed my words, but with good reason they went silent. It was the return of seizures that took my breath away. I thought we won that battle back in year one. This was hopeful thinking. Although I wash the medicine syringes twice daily, it seemed the days would come to an end. Instead the seizures returned, not with a vengeance like some children, with just enough of

Life is instinctive and we have been wired to react; move quickly, do not delay. Well, delay, was introduced to my life a little over 3 years ago, and with that a world full of deprivation. Deprivation showed its face when my breast-fed child struggled to melt his gaze into me when intimately being nourished. The damaging lack of material benefits considered to be basic necessities in a society, deprived. The face, a considerably complex image to interpret for a child with cortical visual impairment. Inside these little dears’ skull, structures are lacking or have been damaged depriving the visual processing center and visual pathways of the brain. My son is unable to experience a sense of relief by visually capturing my face. When he needs a “security” check-in, the simple reassurance of finding my face is inaccessible to him. It is estimated 80 percent of what children learn comes to them through their vision. Archer does not learn by watching others. His world will neve

As year 3 of parenthood rolls right on by, my voice begins to elevate further into the world. One single voice , enrolled, to decipher her son’s expressions. Translating the communication of his experiences with writings, my own skewed scope.   Why share? Why give Voice? To spread the vision of rare disease. Rare individuals DO positively impact our world.   We were welcomed to parenthood with a RARE experience, but not as rare as some families’ lives. The families we now relate with, some never even having met in person, but we share these rare experiences, that are even rarer from each and every rare child. According to globalgenes.org 350 million people worldwide suffer from rare diseases. Approximately 50% of the people affected by rare diseases are children. Imagine this… if all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country. But, WHY do we not hear about these rare diseases? It is hard for one single v

When one says “oh it is in my genes,” this is the generalization of gene inheritance. In high school biology class, you may have experimented with recessive and dominant genes, and learned combinations for certain features. If you are a female, like me, you may have even gone as far as planning what type of genes you were looking for in the man to be the father of your child/ren! In Archer’s case, the long, curly eyelashes came from my dominant genes and thankfully he got his dad’s toes, however his genes had a few hiccups of their own, considered to be variants of unknown significance . Think back again to biology class, the parts of the organisms, maybe even the songs you made up to pass the tests, specifically the spiral like structures with “arms” housing the DNA, this is where Archer has a duplication and a couple of deletions. Three of his genes have “arms” either with extra material or lacking codes to complete the sequence. Long story short, the exact location of variance