I got a call September 13, 2023 from a genetic specialist at UIC. He informed me that AJ's microarray test results were in. Prior to this phone call, I had already been told by a Doctor at Edwards hospital, that AJ had an additional chromosome of an unknown origin on the long arm of chromosome 4 on July 25. She later had a genetic counselor come in to talk with Julius and I who then explained further AJ would suffer from severe developmental delays, intellectual disabilities, cognitive abnormalities, dysmorphic features, grow at a slower rate than other kids his age, and then said the rest of what Aj could or could not do, would be up for AJ to show us. Meaning feeding, sitting, crawling, speaking, basically all the motor and cognitive skills a baby develops in the first year of their life would be up for AJ to show us when and if he can attempt these skills.
I remember the first question I asked her was what did I do wrong during my pregnancy, followed by what the treatment plan and cure was going to be for AJ. I wanted to know how they were going to fix my baby. She explained to my husband and I, this was nothing that we did wrong, and this happens at conception. As soon as the sperm touches the egg, genetic make-up is determined and sometimes things get added or left.
In AJ's condition, because of his chromosome make-up he suffered from coloboma in both eyes, failed left hearing test, triangular shaped helix of the ears, other dysmorphic features, micrognathia and retrognathia face associated with noisy breathing when supine, and a cardiac defect known as VSD that was medium sized. In other words, AJ had a small head, recessed chin, strider cry (distinctive and high- pitched due to obstructed airway) and noisy breathing due to the recessed chin, small and disformed ears, mottled skin (blotchy patches due to blood circulation complications), a heart murmur, loss of hearing in one ear, and partial or complete blindness. She was explaining to us, that on top of those complications, AJ would develop mentally and physically slower as well.
So, when I got the call from an actual genetic specialist in September from UIC, I was over ready to hear the results. AJ was already at UIC since he had just underwent a surgery, so I told them I would come in that Friday and he said to meet in the NICU. My husband had to work, so I asked my oldest sister if she could meet with me at the hospital for support on that day. Come Friday, September 15th, we met in the NICU, and then walk over into a conference room. In the room, is AJ's NICU Doctor, the genetic specialist and his colleague, and my sister and me. We did some small talk, that I was grateful for, and then I called my husband and put him on speaker so he could hear the conversation as well. The specialist gently sets down a packet as thick as my calf, pulls out a paper, and slides it towards me.
It is AJ's results that read, " Abnormal Microarray Result: Unbalances Translocation Involving Chromosomes 4 & 18". It showed the deletion of chromosome 4 located in the q35.2 and duplication of chromosome 18, located in the q11.2q23. It showed the chromosome analysis was performed again to further characterize the finding which showed AJ has 46 chromosomes, XY, der (4)t (4;18) (q35;q11.2) karyotype. In English terms, AJ's physical differences and testing are consistent with trisomy of chromosome 18. He explains how 4q deletion and 18q duplication is likely responsible for what appears to be Edwards syndrome, further detailing that people with Edwards syndrome generally have a decreased lifespan and tend to pass away in infancy or childhood. The Doctor told us how it was a high probability that one of AJ's parents is a balanced translocation carrier, and recommended parental testing. All in all, the conversation lasted for about an hour. There were loads of tears, questions, silent moments and even loud ones.
The report from Dr. Barajas, M. reads:
AJ Davis is a 2- month- old full-term baby boy who was born with multiple birth differences including retrognathia, bilateral coloboma, external ear differences, clubbed feet, overlapping fingers, ventricular septal defect, and hypoplastic aortic arch. AJ has so far spent his life in multiple hospitals' NICU's: He was born at Edwards Hospital, transferred to UChicago Comer briefly, and is now here at UIC. He underwent a recent mandibular surgery for his retrognathia. He has developed an infection associated with surgery but is generally stable. In addition, he has difficulty with feeding (Barajas, 2023, 3).
AJ's physical differences and testing are consistent with trisomy of virtually the entire long arm of chromosome 18. The chromosomal disorder is usually clinically indistinguishable from full trisomy 18 in most patients. Trisomy 18 (Edwards syndrome) is usually fatal in the pre- or early neonatal period, though it has long been known that about 5- 10% of affected babies survive the first year. Typically, there is severe intellectual disability, limited speech, and inability to independently ambulate. That being said, there are certainly children with trisomy 18 who smile, laugh, and meaningfully interact with their surroundings and loved ones (Barajas, 2023, 3).
To date, AJ has reportedly not shown some of the most immediately life-threatening common manifestations of trisomy 18, namely apnea, severe epilepsy, respiratory failure. Also, his cardiac disease is relatively uncomplicated compared to many children with Edwards syndrome (Barajas, 2023, 3).
After the discussion, I was abundantly given material to further read about Trisomy, AJ's official diagnosis. A Facebook group, a few Foundations, and multiple research studies. I felt so empty inside as my sister held me and wiped the tears from my face. There was no more waiting that needed to be done, the results were in and fell into my lap like a grenade. It was time for me and my family to accept fate and begin to understand his condition. To understand, that AJ most certainly would not be like our other children. Only, I left that conference not even remembering what the entire fuck just happened. I was so far away from reality. My sister and I hung out after and drove down to the beach. I shut my phone off and refused to face the obligations I had back at home. My kids, my husband, my mother... I literally wanted to die. This moment was my calm before the storm I was about to create in my life.
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