The B Life

the b life
a maker mama navigating life with her trisomy 13 babe and her bee-loving husband

In the early hours of July 20, 2017, after being in unsuccessful induced labour for 22 hours because of pre-eclampsia, our little Joseph made his entry into this world by caesarean section at 4lbs, 10oz. He was given familial names: Joseph was the name of my grandfather (who had been deceased 10 years that summer), Jonathon & Marinus are the names of Nick's father & grandfather (also deceased) respectively. At birth, Joseph presented some physical anomalies - extra digits on both hands and rocker bottom feet. He had also shown, on prenatal ultrasounds, to have an enlarged left kidney pelvis, but this had been contributed to his being a boy, and nephrology was unconcerned. Because of these abnormalities, his blood was sent to the hospital's geneticists. They ran a microarray test.

Two weeks after birth, Joseph was diagnosed with Trisomy 13. This means he has an extra 13th chromosome. I remember the moment so clearly. Nick was working; I was in the hospital NICU, spending time doing Kangaroo care with Joseph. Moments later, I was sitting in a room with the Neonatologist, Nurse Practitioner, Geneticist, Neonatologist Fellow, an RN, and a Social Worker being told that my son's genetic diagnosis was probably fatal: that most children (and when I say most, we're talking 80%-90%) don't live beyond 1 year of age. I remember the disbelief, the anger, and the longing simply to hold my son. I'll never forget having to call my husband to tell him to come to the hospital. We called our families. Everyone came to the hospital that night. Everyone had to suit in gowns because Joseph happened to have a swab sent away for an infection test earlier that day. And I remember going to Tony Roma's for dinner that night. We were so hungry, but eating was hard. It felt empty. 

In the weeks that followed, Joseph had another blood sample run to check on the percentage of cells affected by the extra chromosome. They were very interested in running this test as Joseph did not present any of the typical abnormalities of a Trisomy 13 child: he had no cleft palate, no heart or lung malformations, his brain's frontal lobe separated, his skull grew normally, his eyes and ears were where they should be. There was absolutely no additional, or usual, markers for Trisomy 13. Sometimes, with Trisomy 13 (as with Trisomies 18 & 21), not all the cells are affected, making the abnormality Mosaic instead of Full. In addition, there's the possibility that the extra chromosome did not fully replicate; instead, only parts of it does - this would be a Partial Trisomy 13. The doctors were interested to know if this was the case with Joseph because, as they kept pointing out, his organs developed normally.

Two weeks after the initial diagnosis, the geneticist came back with the results of this blood test: Joseph was, in fact, Full Trisomy 13: meaning all of his cells are affected by the extra chromosome. But the news did not stop there. Not only was Joseph Full Trisomy 13, he was a Full Trisomy 13, translocated. This means that his additional 13th Chromosome is attached to his Chromosome 14. In cases of Trisomy 13, this happens about 20% of the time. The geneticist then explained that this was the only type of Trisomy 13 that could be passed on by a parent. So, another round of tests and blood work - this time of Nick and myself. 

Again, two weeks passed. On a sunny afternoon in early September we were given the news: I had a Robertsonian Translocation of my 13/14th chromosomes. Simply put, my genetic material was rearranged in such a way that Joseph received the extra 13th chromosome from my egg. It also meant that 50-60% of my eggs would never be viable for a successful pregnancy. Where most would be devastated, I am not sure that I knew anymore how to be disappointed in the news. Genetics is a strange thing. You cannot change genetics. You can't heal it. It just is. When it comes to genetics, you aren't receiving a diagnosis for a disease which may or may not be healed. You are simply learning about a part of yourself. 

For Joseph, his Trisomy 13 has manifested itself in some very basic (albeit uncommon) ways: he has a moderate form of tracheomalacia - or floppy airway. For the first 3.5 months of his life he was dependant upon a CPAP machine for breathing support - not because his lungs couldn't inflate, but because his airway would often collapse, making it difficult for him to breathe. This also meant that Joseph could not learn to feed orally. In October of 2017, he had a surgery to place a G-Tube and remove his extra digits. Post-surgery recovery was slow for Joseph. He responded poorly to the morphine, and needed to be re-intubated several times in the 10 days that followed. 

On November 22, 2017, Joseph was finally discharged from hospital, and our little boy got to come home for the very first time. He came home with breathing support for night-time only (home biPAP), medication to help keep his nocturnal seizures at bay, feeding tube & pump, and a whole bunch of extra medical just-in-case equipment that we haven't yet needed to use. We are fortunate enough to have night nursing 6 nights/week. In 2018, we're hoping to get Joseph into a swallow study to see if he'd be capable of eating orally (since he in not dependent upon his breathing apparatus, anymore). 

We recognize that our time with this little miracle boy is a gift, and we hope to bring some light on how we're doing life with our sweet medically complex, Trisomy 13 boy. 


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