“I would say he’s begun to do that in the last six months,” I said to the doctor in response to her developmental probe into my son. “Isn’t progress wonderful?” The question was innocent enough, and for once, I was able to digest it without frustration or sadness. “It really is,” I replied with a smile and actually meant it. The thing about progress, for me personally, is that my son had a regression of skills just after his second
“My son has Phelan-McDermid Syndrome,” (PMS) I declared as the nurse asked if my son had any pre-existing conditions. “What was that?” she asked as many have before her and many after her will as well. “It’s a genetic deletion,” I began as I always do, “it might be easier just to write down 22q13.33 deletion syndrome,” has become my default as many in the medical field may understand chromosomes better. However, they still have no idea what those numbers
It wasn’t 7:00 am on a Saturday, and I was exhausted when I wrote this. My son woke up in the middle of the night, as he often does, and every time he fussed a bit, I woke, holding my breath and bouncing up in a panic. Each time he was fine. But the physical toll of that alone could exhaust a person. But it isn’t just that. I went in to grab him to start his day, as the
“I meant to tell you it’s not Global Delay anymore. It’s now a diagnosis of Intellectual Disability,” I said to the nurse as she was presenting her portion of the IEP (Individualized Education Plan) for my son. She quickly questioned, “who gave you that diagnosis?” To which I replied, “he just had some testing done through developmental at (the hospital), and he was given that when they reevaluated his autism diagnosis.” She looked at me through the zoom meeting asking,
We left the house exactly as scheduled, which in itself was a miracle, arriving as requested 30 minutes prior for check-in at the hospital. Everything was going smoothly thanks to pre-check-in via the phone, and we were sitting in the radiology waiting room a full 10 minutes early. Our appointment was for 8:00 am, and I thought, man, we might be out of here by 9 o’clock. Before I get too deep into this story, let me tell you a
The first time I heard the term hypotonia, it didn’t even register. I focused on the shots and answered questions at that checkup when our pediatrician uttered a word I never heard before. I must have missed it. After all, humans do that. We use context clues, and if the word doesn’t seem too alarming or concerning, we tend to assume the meaning and move past it. My husband heard it, and he must have started to do research and
Community Submission by: Leslie Mehta Leslie Mehta is an attorney. She lives with her husband, Tarun, and two daughters, Brooke and Blair, in Richmond, Virginia. You can follow her advocacy journey at www.prettybrooke.com, on Facebook at pRETTy Brooke, and her YouTube channel of the same name. I met Tarun Mehta in law school. Five years and several bar exams later, we married near my small North Carolina hometown on August 11, 2007. Rarely did we discuss having children. We were
Community Submission by: Kelda York Kelda York is married with three children and lives in NH. She is a pre-school teacher, an avid cook, and enjoys a good novel. My son has always kept us on our toes, even before he was born. There were concerns over a heart arrhythmia, which was detected at 16 weeks of gestation. He decided to join us 6 weeks early and spent weeks in the NICU to fix some lung development issues (his heart
The best advice is the advice you want to share. Let me pass on to you what someone said to me once. Someone said, “you got this, momma. Trust your momma gut!” I don’t think I was even barely a mother at that point. I, like so many other parents, was looking around for help to a problem. Let me tell you why trusting your gut is the best advice you can be given, even when you feel they aren’t
When I heard the word “advocate” for the first time, I assumed it was very political. I am not political, I reasoned, so therefore I couldn’t be an advocate. Yes, I vote–but running for office is not in my future (although I have learned never to say never). Little did I know that being an advocate was not limited to politics. It is so much more. It is giving a voice to the voiceless, or those who are barely heard.
