Patient Worthy is honored to share Oliver’s story on behalf of SynGAP Research Fund. SRF is a global group of families committed to accelerating the science to cure SYNGAP1 & to supporting each other. To learn more about SRF, go here.
Oliver – 4 years old
California
Oliver was born in April 2021 by an emergency C-section after he had flipped himself “sunny side up” as the doctors put it and several hours of trying to get him out. During those first days in the hospital, we were in amazement at how calm and relaxed he seemed to be.
During Oliver’s pregnancy, there were a lot of times where he was very inactive for long periods of time. It got to the point where we went out and purchased a home doppler so that we could find his heartbeat and listen to it. This was very common throughout the pregnancy with him as we also could not seem to get him to be very active when we went for ultrasound pictures and videos.
Before we could leave the hospital, Oliver had to receive blue light treatment for jaundice and once again we were shocked at how willing he was to lay there under the lights and barely make a sound. We were even setting timers and alarms for when we would be able to take him out from under the lights to hold him for a few minutes before putting him back in for treatment.
Around the time Oliver was 4 months old, we started to see the first signs that he would be delayed in his development. He liked to spend a lot of time laying on his back, which led to our doctor referring us for imaging to see if he would need to wear a helmet to help his head develop correctly. We didn’t think much of it because we had friends whose son was born 2 weeks prior to Oliver and he was the child who ended up being fitted for a helmet.
Around the time Oliver was 6 months old, we received our first referral to physical therapy for torticollis in his neck. Those first visits were some of the roughest as he spent the entire time screaming and crying and only showing minor improvement. Around 9 months old we began to get in-home treatment from our local regional center to help with his development.
That next year led to a lot of different therapy appointments and many people telling us that the most likely reason for all of his delays was due to the torticollis diagnosis and that other kids with similar diagnoses just took longer to catch up to their peers. Around the time that Oliver was 20 months, we rushed him to the hospital because we thought that he had stopped breathing. Later on we would realize that was the first recognizable febrile seizure caused by the fever he had been running.
Around 22 months, we thought that we had hit a breakthrough as one day Oliver just stood up and started to walk around the house without any assistance. Right before his second birthday though he suffered another febrile seizure on Easter Sunday, which led to a trip to the emergency room, this time via ambulance.
Because he was still delayed in many areas, our pediatrician referred us to a neurologist to check for Autism. The first time we met with our neurologist, she was amazed at how social Oliver was and how willing he was to come up to her. When we informed her of the seizures that he had suffered, she ordered the first of many EEGs. Those results showed that although he did not have any seizures during the EEG, there was abnormal activity that placed him at a higher risk for having seizures.
After a few more months of physical and occupational therapy, our neurologist asked if we would like to have Oliver undergo genetic testing. We figured that this might be the best chance to discover why Oliver had been so delayed with everything so we scheduled the blood draw.
In February 2024, our neurologist’s office called wanting to set up a video visit to go over his genetic testing results. It was during that call that we learned that Oliver had been diagnosed with SYNGAP1-related disorders (SRD). While finally having an answer as to why Oliver was so delayed, the news of his diagnosis hit hard.
Those next couple of days seem like a blur now, I can’t say how much time we spent looking into SRD, but thankfully our neurologist had done some research ahead of our call and directed us to the SynGAP Research Fund website. It seemed like we would read and reread every article on the website or watch and re-watch every video from other families.
Since Oliver’s diagnosis, we have continued with his occupational, physical, and speech therapy, while also adding ABA therapy as well, and a weekly swimming lesson. There are still things that Oliver struggles with, but we are overjoyed as he continues to show progress in certain areas.
Oliver loves to spend the summer days in the pool for hours on end, or going to the park to go down the slide and spend time on the swings. He loves anytime that there are bubbles (we buy bubble solution in gallons and have multiple bubble guns) and spending time jumping onto his crash pad.
Learning to accept Oliver’s diagnosis has been one of the most difficult things we have ever had to deal with. Even with his diagnosis, there is still so much joy and excitement that Oliver brings to our lives on a daily basis.
When Oliver was born, we decided that his middle name would be Faris, for his Grandpa, or as it is said in Arabic, Jidoo. The translation of Faris in Arabic to English is Knight, referring to a brave chivalrous warrior, and we can truly say that Oliver lives up to being our little warrior.
