When I first discovered and started to learn about Cohen Syndrome...I spent MANY hours researching and searching the internet. One of the first things I found was a blog www.ajoyrenewed.blogspot.com where I was able to really get my first glimpse of another child with Eli's same situation. I immediately reached out to the author, Brittnie. I had so many questions and just wanted someone to talk to. She was the first person I ever connected with about Cohen Syndrome (which was a true lifesaver) her blog was something I was able to share with my family and friends who were trying to understand what this new diagnosis meant for Eli and for us...It was a true comfort during a very uncertain and scary time in my life.
And here is Brittnie's story about her daughter Clara...(check out her awesome blog for more info on Cohen Syndrome and to read more about adorable little Clara!)
Our sweet Clara was born to us in 2012, after undergoing treatment for an infertility diagnosis. We were ecstatic, over the moon, and completely in love with our little peanut. Weighing only 6 pounds 5 ounces at birth and only 5 pounds 14 ounces when we took her home, she was just that, our little peanut.
Clara struggled to eat well as a newborn, and this trend continued on through infancy. She preferred not to sleep (more than a few hours at a time) and had colic. By four months of age, I began to notice that Clara's development lagged a bit behind other infants her age. By six months, the delay in milestones was even more clear. She was not sitting up, but more concerning was her lack of social interaction. She hardly locked eyes with us, and rarely smiled. It was as if she gazed through us.
At her six month well check Clara's pediatrician agreed that these delays were a bit concerning, and it was time to contact early intervention. This set us on a roller coaster of investigation that, little did we know, would last twelve more months. We made an appointment with a well known neurologist, and started Clara in the local ECI program (early childhood intervention) and OT (occupational therapy). The neurologist gave Clara a quick diagnosis of Microcephaly (smaller than average head circumference), but knew there was more going on.
Between the age of six to nine months Clara had an extensive hearing test (ABR), brain MRI, and several basic genetic tests (think lots of blood work - Chromosomal Microarray Analysis, Rett Syndrome and Fragile X Syndrome). From all of this, we learned that in addition to the Microcephaly, Clara is missing a portion of her 4th chromosome. This was not a concern, yet our neurologist had us speak with Texas Children's Hospital genetics department to get more information. The geneticists agreed that the missing portion of her 4th chromosome was not significant, yet they encouraged us to try one more extensive genetic test called a Whole Genome Sequencing. They claimed "this is the test that will give us an answer."
And it did.
After a five month wait on blood work, we received the diagnosis of Cohen Syndrome. Clara was 18 months old when we reviewed the diagnosis.
As the geneticist read off the symptoms of Cohen Syndrome, it all just fit. It all made sense. We were overwhelmed, yet relieved. Stressed, but so thankful to have an answer.
Clara sat unassisted at six months, crawled at 14 months, and walked at 23 months. She has never spoken a word, but is currently, at age 4 years, learning some alternative means of communication. She attends a full time therapy school for kids with Autism, and gets approximately 40 hours a week of ABA therapy. She also has one private speech therapy session a week. The ABA is proving highly effective for our girl. We wonder about Clara's level of cognitive functioning, as she does not follow basic directives, hardly responds to her name, etc. Clara struggles with sensory issues, so loud noises frighten her and daily activities such as brushing teeth are a challenge (an understatement).
The challenges are many, and the road before us is certainly not smoothly paved, but I would be lying if I said I would change one thing about my girl. Of course we push her and challenge her and pray that she continues to meet milestones, but we firmly believe she is perfect, just as God made her. She has a smile as wide as Texas, a friendly disposition, and loves to giggle. She gives the world's best cuddles. She sparks joy just by entering a room. She is fearfully and wonderfully made. And she has made such progress over the years in most all areas of her little life. She is currently learning to relieve herself on the potty, a skill I never knew would even be possible for Clara.
I consider it a privilege and honor to parent this amazing child. It is not uncommon for people to say, "Clara is so blessed to have you as her mommy." To which I reply, "Oh no, no, I am the blessed one."
Brittnie
