A Smile That Changed the World

Welcome to the new Believing in Benny site! For a long time I have wanted to create a space that could lend some help to children, families, friends and caregivers that are touched by the world of Special Needs and Rare Diseases/Disorders. Three years ago, I would have never even thought about doing this, but that was before I knew my sweet little Benny. Benny lives with something called Angelman Syndrome (AS). It is a rare neuro- genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother. To simply describe it, it has similar characteristics of Autism, which is what I initially thought. Angelman Syndrome is also a spectrum disorder like Autism, meaning there are many variables that play into their abilities. In this blog post I will be giving a lot of Angelman information so that you have background on where my stories will be coming from, but know that going forward I hope to reach more than just families of AS. 

With that being said, common signs and symptoms of AS that appear in early childhood are commonly but not limited to: gastrointestinal issues, balance and walking disorders, seizures, and little to no speech. People living with Angelman Syndrome tend to have an overall happy and excitable demeanor, and can change the world with their smile. People with Angelman Syndrome have developmental problems that seem to become noticeable by the age of 6-12 months. However, when people ask me when I knew Benny was “different,” I always say that I think something within me knew from Day 1. That might sound crazy because from the medical standpoint, he had a” typical” birth and was born a healthy baby. He was born by C-section, and had to be vacuumed out., so he had a large bruise on his head. Later in my pregnancy I was told I had slight Polyhydramnios (too much amniotic fluid), this was partly why I had a C-Section. Benny also chose to lay sideways in my stomach all of the time, making delivering him naturally not possible. Knowing him now, he loves laying in tight spaces so this now makes total sense, but back to his birth! He did not cry immediately, and my mind started racing from that moment on. All births are different, but something in my heart felt different about his. Down the road we questioned if something had happened during his birth, but we would learn that AS had been present all along, it just took time to figure out.

Benny was born two weeks after the world “shut down” with COVID restrictions. The hospitals and clinics were going through  many changes in protocols. When Benny struggled with feeding in the hospital, we just assumed he would need time to work on it. He did not know how to suck at all, so we helped him by holding his cheeks together to drink, and fed him with a syringe. He cried anytime we put him down so we were pretty much always holding him in order to get some rest and peace in the hospital. None of this is completely out of the ordinary though for babies. We knew this. So we just kept on doing what we could to help him feed and sleep. These were the next two pieces to the puzzle that made my heart continue to wonder about Benny, even at this early stage in life.

He went home with us a few days later with no extra conditions of care. We couldn’t wait to get him home and be in the comfort of our own space, introduce him to his three brothers, and settle in as a family of six! At home, feeding and sleeping issues continued to make us wonder how to best help our newest son. He still struggled a great deal to coordinate his sucking in order to be fed, and he now had an added interesting feeding characteristic - milk would come out of his nose whenever he would drink. When contacting the doctors office, they told us that feeding difficulties (reflux, spitting up, etc.) were normal and to keep on trying what we were doing. My momma heart knew it was more than that though, this just wasn’t normal. Clinics at that time were hoping to keep babies at home as much as possible, instead of coming into the clinics as often, so we continued doing all we knew to do with Benny.

Sleep was another complexity. Benny would not sleep unless he was being held. This continued after we left the hospital. I was not worried about starting any bad habits by holding him, babies don’t form habits at that age. At the same time though, I was not able to do a single thing because I was always holding him. I have videos on my phone that remind me of how excited I would get that he was finally sleeping, I would put him the swing with vibration on, and sit down on the couch to close my eyes, and he would wake up. Every. Single. Time. At night, my husband Joe and I would take turns doing 3 hour shifts of sleeping in the Nursery chair. Luckily we had bought a reasonably comfortable chair, because we spent a LOT of time in that chair in the months to come. We have talked and we are pretty sure we slept in that chair for at least four months. We would continue to sleep in there beyond that, but sometimes we would get an hour where we could crawl into our own bed before he would need one of us again.

So why didn’t I just think he was a fussy baby or a baby that needed to be held more than others? There is more. When Benny would get upset, it would take hours to get him to stop crying. This didn’t happen often, but when it did it was HARD. There was not a single thing we could do to soothe him and believe me we tried everything! I remember so many nights just walking around my house in patterns around the kitchen - counting kitchen tiles, counting laps, around the coffee table, around our living room and family room. I would get a glimpse of calm by doing this, so I just kept walking, but it never fully soothed him. There were nights where I would exhaust all of my efforts and hop in the car, and he would just cry and cry. Sound machines would blare, fans would blow, silence was tried, every swaddle was bought, so many formulas were tried, and nothing helped when he was upset. Maybe it was just colic. But something told me it was more. 

At three months old an ENT saw him about the feeding difficulties and we had a plan going forward. It was bumpy, but eventually we found a formula that worked and his skills grew a bit. Fast forward to six months old - his pediatrician and I talked about other things we were seeing on top of the sleep, feeding and inability to calm when needed. We were seeing differences in his eye gaze, speech and gross motor delays as well.  Patching had begun to help his eyes work together, referrals were sent out for our County’s Birth to 3 Early Intervention program, and we started to feel like we would have some more help that we needed, to get Benny on track. Benny would begin OT, PT and Feeding/Speech. We still had no complete answers yet, but we had a start to our village that would help us to raise Benny.

I am going to pause my story here, as it could get very long. In my future posts I will talk more about the importance of finding early intervention, following your heart, educating yourself and leaning on those around you. I am here for anyone that needs a space to ask questions, share fears, celebrate successes, shine a light on another special ability, or just to talk. These posts are for friends, families, caregivers, professionals supporting other individuals with needs, local support people in the community, and anyone else who wants to join! Thank you for being a part of our “village.” I look forward to connecting with you!