By Darby Harvey
Mommy to Samuel
Born March 2023
Trisomy 13
My husband and I struggled with infertility. We were in the process of seeing multiple specialists for infertility treatment when we found out we were pregnant. At our 20-week anatomy scan they found our little boy had a significant kidney problem. We were referred to St. Louis Children’s Hospital and an amniocentesis confirmed the diagnosis of Trisomy 13.
Once we received the diagnosis, our main hope or goal was to meet our son alive. We were told by doctors that he would likely be stillborn, therefore our primary dream was to be able to hold him while he was alive.
We continued to meet with St. Louis Children’s Hospital for follow up appointments and ultrasounds prior to Samuel’s birth. Given the lack of significant abnormalities found on ultrasound to his vital organs (heart, lungs, brain), we began getting information that Samuel may have a somewhat better outcome and live several days.
We delivered Samuel at Barnes with expectations to meet our son and quickly say goodbye. Labor went smoothly and Sam was born at 2:31am on March 11, 2023 and did very well after birth. The decision was made to go to the NICU at St. Louis Children’s where he required and NG tube for feeds and was on CPAP to help him breathe. After a 10-day NICU stay, we were discharged home with hospice care.
We had several months at home with him before a significant problem began to develop – he was not urinating. It first started with a noticeable swelling in his abdomen and a hospital stay revealed that his kidneys were not emptying into his bladder, especially his left one. They were drained at St. Louis Children’s through the installation of nephrostomy tubes and after a few days, we were released home. But just a couple of weeks later, Samuel was not urinating again. We had supplies and instructions to put in a catheter at home if he went 12 hours without urinating, but that wasn’t working.
We went to the ER in St. Louis and by the time tests were done, Samuel had gone 25 hours without urinating. However, his urology team in St. Louis did not see an immediate concern and discharged us, despite our request for further testing. We were very concerned, however, and impulsively drove from St. Louis to Cincinnati Children’s Hospital, another 5 hours away from home (9 hours total). This hospital is known for its dedicated care of Children with Trisomy 13 and 18, and we felt it was our best chance to get Samuel the help he needed with his kidneys.
We were immediately admitted and tests began – it confirmed a blockage of the right kidney at the level of the ureter and bladder, negatively impacting his kidney function. Surgery was done to detach his ureter from the bladder and create an ureterostomy that will drain into his diaper. With time (about a year), the renal collection system will ideally heal from the extensive swelling that it has been through, and we will return to have a reversal of the ureterostomy. His Urologist told us after surgery that his right ureter was about 3 times the size of his bladder and could have ruptured at any time.
On January 16th we will return to Cincinnati for reconstruction on his left kidney. While his right side has a ureterostomy, on his left side they will be removing his nephrostomy and a pyleoplasty will be done. This is detaching his ureter from his kidney, cutting off about an inch of his ureter and then reattaching it to his kidney. This is a much more invasive and longer surgery. It also has several risks associated with it, but he can’t have a nephrostomy tube long term due to infection risks.
We also finally met with a genetics team in Cincinnati that is going to continue to follow Sam throughout the rest of his life and potentially include him in a research study that is upcoming about Trisomy 13 life expectancy and quality of life (current data is NOT accurate). They are still awaiting approval to do this research study. We also confirmed that Samuel does have full Trisomy 13, as we were initially told. However, our genetics team is very impressed with his current development and health and believes that if we can get his kidneys figured out, we could have him with us for several years!
Samuel’s diagnosis has impacted all of us both positively and negatively. On one hand, given the opportunity we would love to take this condition away and make everything better. He has multiple follow up appointments that require significant travel and time away from home. He has had multiple surgeries due to chronic conditions that also require follow up and close monitoring. On the other hand, if things were any different for us then our little guy wouldn’t be the same as he is. This diagnosis has taught us to cherish the little moments in life and live every moment like it is the last.
Samuel recently turned nine months old. He loves to stick out his tongue, rarely cries, loves to roll, and is even starting to try to army crawl and moves a few inches at a time! Last month he sat up on his own for the first time. It lasted 45 seconds and it was something we never thought we’d see him do.
We focus on living in the moment with Samuel. We hope to spend as much time as possible with him and surround him with love throughout his entire life.
On Angels’ Wings has been very supportive throughout this journey. They have provided joy and happiness in a time that can certainly be dark and scary. We were able to capture moments that will be cherished forever thanks to OAW, including maternity pictures, Samuel’s birth, his stay in the NICU, celebrating his coming home, and his continued journey. We even received pictures with Santa to celebrate Samuel’s first Christmas!
I would encourage everyone in a situation like ours to definitely utilize OAW. We had our hesitations – I’m sure everyone does – but ultimately it was one of the best decisions we have made yet. Being able to lean on groups who have supported others through difficult times is a very important aspect of the grieving process and OAW is a great resource to utilize.
