Bridge the Gap – SYNGAP – Education and Research Foundation

June 11th 2017. by Lauren Woolhether

In April of 2010 our son Will was born. He was a big beautiful wiggly baby of 9 pounds even. I was so in love with Will’s older brother Colin, who had just turned 2 at the time, and we were really happy and excited to have a second little boy and a brother for Colin to bond with. My pregnancy was completely normal. I had a previous pregnancy which resulted in a baby girl with a serious heart defect which in turn left us devastated with a loss around 25 weeks gestation. My following pregnancies were monitored closely with early ultrasounds and monitoring at a specialized women’s health clinic. Both pregnancies were normal and it’s notable to mention because there was no sign there would be an issue with Will.

As a baby Will was absolutely adorable. He was really chubby and so calm and sweet. Will never did babble much. He would, however, repeat the same sounds over and over again in his crib as I recall. He was a calm baby and easily entertained. I used to sit him in a baby seat under a ceiling fan and he would watch it spin above him and get so excited! When Will started to crawl around 10 months he would crawl right to the front door and open and close it and thought it was the best!  He finally started walking around 15 months but he walked very unsteadily. We would say lightheartedly, he looks like a drunken sailor when he walks.

 

It was right around his 1st birthday that we started to wonder about Will’s development. The lack of any kind of speech was concerning. He also started to show that he was having issues with his sensory system. I remember him never being able to catch his breath in the wind. He was so uncomfortable in the wind. He also was showing issues with certain sounds. My husband was working on remodeling the bathroom at the time and Will would lose it at the sound of hammering. He also couldn’t handle the sound of other babies and small children crying. He would scream in terror at the sound. That was very hard on me because I love babies and we would have to start avoiding them. My nephew was a newborn at the time also and Will couldn’t stand being near him. It was so sad. He also couldn’t hold a bottle properly. He would always have tight little fists and needed help with holding items.

Around 15 months Will’s pediatrician ended up referring us to a speech therapist for an evaluation. At that appointment our lives really changed. I had at the time just been thinking, he’s just behind and he will catch up. He’s still a baby. But the speech therapist used terms like apraxia of speech and dyspraxia and sensory processing disorder and perseveration and early intervention and therapy and all kinds of things I’d never heard of. We felt worried and scared. I made it my mission to do everything it took to help him. We started speech, occupational and physical therapies all at once. From there on out our lives became consumed with appointments as well as worry and sometimes excitement when something new happened. Will never lost skills like some kids with autism are known to do. He always just moved along at a very slow pace.

 

Around age 3 Will started biting and screaming whenever he was upset. And I thought, what happened to my little angel? He turned into ‘the saddest kid in the world’ it felt like. It was so hard. We all started tiptoeing around him and doing everything to keep him happy. Therapists were not surprised and were always really supportive. At the same time he started having atonic seizures. He scared the heck out of us. Head wounds bleed A LOT. He would fall flat on his face and had a couple trips to the ER resulting in stitches and staples. He would put up a huge fight over these procedures. He was inconsolable. So around this time we were sent to neurology and he had the usual overnight EEG testing and was found to have atonic as well as atypical absence seizures. The seizure situation was tough and it was hard to find the right meds. It was trial and error. Eventually Will was considered to have intractable epilepsy. The neurologist asked us if we wanted to have a vagus nerve stimulator (VNS) implanted to help control these seizures. We thought about it for a long time and finally said yes. It was so hard to go through all the med changes with Will. We never knew what kinds of side effects we were going to get. We are really happy to say Will responded amazingly to the VNS. He stopped having drop seizures pretty quick after having it put in. He is still on two seizure meds, however. But it all is working well right now. I’m never going to say, oh wow, now he’s cured! because I know it can change at any time.

During all this we also had Will evaluated by a neuropsychologist and starting seeing genetics. Neurophysch diagnosed him with autism spectrum disorder. He fit a lot of the criteria, including his obsessive behaviors and being nonverbal. But at the same time he was so social with good eye contact and had a great sense of humor that the doctors thought there was something else going on. We saw genetics a couple times and he had a couple rounds of routine testing that showed nothing. Finally at age 6, just last summer, he was approved for whole exome sequencing. After a few months of waiting his results came back and we could not believe they found something! I was truly amazed. I never anticipated us actually knowing much. They found he has a SYNGAP1 frameshift mutation. And here we are today! I’ve met a lot of families online with children similar to Will and I just cannot tell you how much that means to me. I have felt so alone in the past. When you have a child who is violent and screaming and nearly impossible to take anywhere, it can be very isolating, even among our local special needs community.

At 6 years old Will remains nonverbal. And while he is nonverbal, he is not quiet! He can be the happiest kid with the biggest and best smile in the world. When he is happy you cannot help but be happy with him. He is super passionate about the things he likes too. He loves ceiling fans, opening and closing doors, and playing with balls. He is kind of amazing at playing basketball. His sensory system is still causing problems, though I have noticed it is improving somewhat. It still makes just about everything new hard, though. I never know how he will react. Some days he will really surprise me and not have any bad reactions to the thing I thought he would get most upset by. Will is also able to learn new things pretty steadily, slowly but steadily. This is a blessing. He enjoys therapy and his relationships with his therapists and teachers.

Will also has a side to him that is violent towards others as well as self-injurious behaviors with head hitting and banging. He doesn’t seem to be able to understand he is hurting people when he bites, hits, and scratches. He gets very frustrated at not being able to communicate effectively and he also cannot stand being told no and being denied access to the things he wants. It is hard on our family, I will not deny it. I also worry about his future immensely. I have no idea what is going to happen with him. As he gets older, though, I am learning to accept it and am more comfortable with our way of life. It is not the life I ever envisioned for myself and my children. However, we love Will so much and want him to succeed and live in his own way. He deserves his life as much as the rest of us. And I think he can teach the people around him to be accepting of differences and learn to love the simple joys in life just like he does. I will continue to do my best to support him and fight for him. There will always be hope in my heart that he will continue to learn and he will find his place in the world.

Show Buttons
Hide Buttons
Translate »