A Diagnosis of Autism Revealed Rare Disease in Baby Who Failed to Meet Milestones

August 31, 2016

By Jessie Fleming

Six years ago I sat holding a new baby boy. Everything had been prefect. The months of severe morning sickness had passed and finally after an induction I was finally holding this bundle of joy. Even in that sweet moment something in my mind screamed something is off. We went home 3 days later and despite some feeding issues the hospital promptly ignored we brought our little Raiden home.

At home Raiden showed he was different. Unlike most newborns Raiden didn’t cry and at best would fuss. Being new parents we thought how lucky we were to have such a good baby. He slept through the night right away and other than some sensory quirks he was happy and seemingly healthy. At Raiden’s first check-up he was under weight we told them he ate every four hours. They told us to increase his feedings so we did. We started setting alarms at night to make sure he ate every two hours. Still he gained very little weight and grew very slowly. Little did we know or understand our baby was in failure to thrive.

As Raiden grew he started missing milestones or they were very delayed. We were told not to worry because babies go at their own pace. We accpeted this as the gap grew. Thinking, hoping, and praying he would catch up. To some extent he did and we held tight to these things. As if they were gold nuggets convincing us we were making up his delays. However, his delays only grew. At Raiden’s first eye exam we found out he had a condition called extopia. This caused his vision to be crossed. It was bittersweet because at one hand he would need corrective surgery and on the otherhand we clung tightly to it for being the reason for his physical delays. We thought foolishly this was our answer and that after this surgery he would catch up and be on a normal developmental track. His first surgery was done in Dec 2011, two months after, near age two, Raiden walked for the first time.

20160809_152212However, walking only made us aware of oddites that he hadn’t had a chance to show yet. He struggled with opening and closing doors. He lacked imaginary play. He would spin wheels and himself. He hand flapped and shook his head. His speech was echoalic. Transitions were like murder. He would scream and self harm for hours for no reason at all. Finally we accepted the idea our little boy might have autism. So we took him to a devlopmental pediatrician who confirmed our biggest fear Raiden did indeed have autism.

Little did we know autism would be the key to unlocking everything else. His autism diagnosis called for a microarray to be done. Three weeks later he was diagnosed with 1p31.3 micro duplication but it was unknown. So more tests were ran. Another set of genetic testing revealed two other unknown genetic conditions an EZR variant and PGAP1 variant also unknown. An MRI was done which gave us a possible dx of Dandy Walker Syndrome but a confrimed diagnosis of Hypoplasia of the Corpus Collurm. He was also diagnosed with scaral dimple and a fatty filum on his spine. Right now Raiden is a six year old little boy diagnosed with adhd, asd, borderline congtive impairment, speech delay, sensory processing disorder, extopia, HCC, and genetic abnormalits. Yet even with all this, at six years old he has surpassed the standrads or dreams anyone could of possibly have had for him.

We are even more lucky than the day he was born because our dreams doed and grew again to fit one of the world’s most unique children, Raiden.

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