2-1/2 years old
Jacksonville, Florida
Warrior #219
Isaac is an extremely sweet and happy boy. His laughter is my favorite sound in the world, and the way he snuggles into my neck when he gets home every day just melts my heart. He loves his animals, splashing in water, and anything that rolls or has wheels.
Isaac is 2.5 years old and was diagnosed a year ago at 1.5, after a very long fight for answers. My family and I noticed something was wrong around 6 weeks old—Isaac would spit up constantly. He could hardly keep enough down to grow; he spent most of his first year of life under the first hundredth of a percentile (<0.01%). Doctor after doctor told us it was “just reflux” and brushed us off. Thankfully, Isaac did not seem to be in pain, but that was little consolation after being puked on 50+ times per day, every day. We used towels and blankets in lieu of burp cloths. I don’t think any of his doctors believed us about how bad it was.
At 12 months old, we were on our third or fourth GI specialist. We had ruled out CMPA, pyloric stenosis, and everything else. Despite my best efforts, Isaac had been dropping weight, and their only advice to me was “feed him more.” We had a strict meal schedule—9 a.m., 12 p.m., 3 p.m., 6 p.m., 9 p.m.—every calorie was counted, and I spent an unsustainable number of hours trying to stuff food into him. I begged his latest GI doctor for help because what I was doing was not sustainable. I cried. Their solution? They sent a social worker out to assess me for postpartum depression. We switched hospitals after that.
Around this time, it was also becoming apparent that Isaac had some pretty significant developmental delays. My neck still hurts from the whiplash of going from “every baby has their own timeline” to “oh wow, he’s REALLY behind.” I had started posting updates about him on my Facebook page, where a friend of a friend asked me if he had been seen by neurology yet. I was confused and said no. They said that just from the photo I had posted, they could tell Isaac had low muscle tone. They were super upset, actually, that no one had noticed. (We had been through two pediatricians and about five GI specialists by this time.)
So off to neuro we went. Immediate alarm bells—he was scheduled ASAP for genetic testing for neuromuscular conditions, a head ultrasound, EEG, and an MRI. Relief and frustration built as every single test came back squeaky clean.
He was 18 months old now, well past the age for GERD or baby reflux, yet he was still puking and falling further behind. Our seventh GI specialist diagnosed him with Rumination Syndrome, which is basically a diagnosis of, “Your puking is not normal, but we don’t know why you’re doing it—go do some breathing exercises and hope for the best.” Not helpful, but it was finally some sort of answer, though it didn’t explain the developmental delays.
We finally met with a genetic specialist who helped us pursue whole exome sequencing, and on June 11, 2024, I got the results back saying Isaac had SYNGAP1-related disorders. Not long after that, we started noticing seizures. In July, we spent 11 days in the hospital for nonstop, uncontrollable seizures, and he had a G-tube placed. The G-tube was a really scary decision that I agonized over, but it’s quite possibly the best thing I’ve ever done for Isaac. We are able to keep fluids and calories going into him even when he isn’t feeling well, give important meds without a fight, and I cannot overstate the amount of stress it’s taken off my shoulders having it as a safety net. If it’s ever crossed your mind—DO IT.
These days, Isaac eats 99% by mouth, and we only use his tube for meds. He goes to a PPEC (Medical Daycare), where he receives physical, occupational, and speech therapy three times per week each. We transitioned him to Keto in February, and since then he’s become so much more present and interested in the world around him. His chewing and appetite have improved a ton, he’s finally showing interest in walking, and he’s up to 24 lbs! He is a menace in the best kind of 2-year-old way. We have found an amazing community in the other volunteer families at the SynGAP Research Fund, and we are fighting for a brighter future for our kiddos.
Isaac’s Medical Story Was Shared on Nemours Children’s Hospital’s Blog here.
