Ethan McIntosh
Ethan McIntoshUSA

Initially we thought that the extent of our little boy’s problems were limited to moderate to severe hearing loss, but that only marked the beginning of what has turned into a life-changing journey with Ethan, now three years old. During his first year, Ethan could barely sit up without toppling, had eye surgery performed and was fitted for hearing aids and glasses. He displayed seizure-like symptoms and has heart and brain abnormalities that we monitor every six months. He was and continues to be unable to swallow water without aspirating, which presents a risk of pneumonia. Just before we celebrated his first birthday, we finally pieced together the puzzle of Ethan’s numerous problems when a geneticist informed us that Ethan had a rare genetic disorder marked by a deletion in his 9th chromosome. At the time, we wondered and wept at the thought that this disorder called Kleefstra syndrome would mean that Ethan would never walk or talk. Our hearts were broken by the crushing reality of his diagnosis, and it took many months to come to grips with the future of his life and of our family.

Ethan is our only child and the first and only grandchild in our family. He is showered abundantly with love and affection by family, many friends, therapists, doctors, and nurses. In the last two years, through daily early intervention therapies ranging from speech, special instruction, hearing, physical, and occupational therapies, Ethan has made tremendous progress. He started walking, assisted in his rolling walker, just before his third birthday, opening up a curious, independent side that we have begun to see in him. He now communicates through some verbal approximations like his favorite color “ye—ow,” and also through some sign language like “thank you,” and “music,” which he loves.

Our family, friends, church, and our faith in God have given us a remarkable, calming peace that binds us together and holds us firmly up amidst this experience. We believe we must also do our part to help enable Ethan and all children living with KS and other intellectual disabilities to enhance their ability to understand, speak and communicate so that they may reach new milestones to be celebrated by loved ones, and ultimately, to live fuller, richer lives. We humbly ask you to join us in this journey.