AJ's Condition: Deletion or Trisomy?

It was July 25th and we were at Edwards hospital when we got AJ's first set of microarray results. A genetic counselor come in to talk with Julius and I, who explained to us that AJ had an additional chromosome of an unknown origin on the long arm of chromosome 4. It sounded like gibberish at the time, but she said AJ would suffer from severe developmental delays, intellectual disabilities, cognitive abnormalities, dysmorphic features, and grow at a slower rate than other kids his age. She then said the rest of what AJ could or could not do, would be up for AJ to show us. I remember the first question I asked her was, "what did I do wrong during my pregnancy?" Followed by, "what's the treatment plan and cure going to be, to fix AJ?". She explained to my husband and I, that there was nothing we did wrong, as this happens at conception, and that there was no cure for AJ, only support groups and therapy.

She went on to dissect AJ like a frog during biology class. Pointing to his eyes, "He suffers from coloboma in both eyes.", and then his ears, "He failed his left hearing test... probably due to the triangular shaped helix of the ears." She continued on about AJ's other dysmorphic features, using words like "micrognathia and retrognathia." The genetic specialist said that because of the shape of his face and his cardiac defect, VSD that was medium is size, he dealt with noisy breathing when in the spine position . It took me a while to understand her medical terms, so I'll write this in layman's terms for us all. AJ had a small head, recessed chin, strider cry, noisy breathing, small and disformed ears (subjective!), mottled skin , a heart murmur, loss of hearing in one ear, and partial or complete blindness. I know she was just doing her job, but she didn't have to be pompous about it! She was basically explaining to us that AJ suffered from birth defects that would cause him to develop mentally and physically, at a slower rate than kids his age. She said that the microarray blood sample was also being ran at UIC for a more in depth DNA analysis.

It wasn't until September 13, that I got a call from the genetic specialist at UIC. Considering the time that had passed from when we first found out about his disorder, I was impatient and eager to hear the results. Within those two months AJ had been transferred from Edwards to UIC, and been a patient there recovering from his surgery. I told the genetic specialists that I would come in that Friday, so we could talk in person about AJ's results. My husband had to work, so I asked my older sister, Ryan, if she could meet me there for moral support.

Friday comes, September 15th, and we meet in the NICU ward. We're redirected to a conference room with about 3 of AJ's providers already inside. We did some small talk, that I was grateful for, and then I called my husband so he could listen in. The genetic specialist sets down a stack of papers, about as thick as my calf and slides it towards me. It is AJ's results that read, " Abnormal Microarray: 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 how the chromosome analysis was performed again to further characterize the finding ( hence the 2 month waiting period) which showed AJ has 46 chromosomes, XY, der (4)t (4;18) (q35;q11.2) karyotype.

Again, in layman's 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. He further detailed 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. There were loads of tears, questions, silent moments, and aggressive ones too.

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 given Trisomy 18 information. AJ's official diagnosis. There was a Facebook group, a few Foundations, and multiple research studies. Even with so many resources in front of me, I still felt empty inside. There was no more waiting that needed to be done, the results were in and fell into my lap like a grenade. I wish I could have blown up in that moment, in more ways than one, but there was no point. There is no one to blame. I had to accept that AJ most certainly would not be like our other children. I left that conference room, 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. After leaving UIC, my sister took me down to the beach for some air. That was my calm before the storm, that I was about to create in my life.