How Hunters Journey Started


Hunters’ journey starts the same as most little kids. My husband and I had decided to start trying to add to our family in June 2019. We were very blessed and only had to wait 4 months until we were gifted our little Hunter. On October 21st we found out we were expecting our first child and of course were elated. We will never know when Hunters condition came to start to develop. Was it predetermined in his genetics? Was it something that happened in the following days? We will never know, and unfortunately the doctors also do not have an answer.


By most accounts, Hunter had a fairly normal start. He was conceived on our anniversary trip in Mexico and we found out about him a short three weeks later. Right after we found out about him, as a family we did endure an immense amount of stress, losing my husband mother, but our Doctors are fairly certain the stress sustained through these early days did not contribute to Hunters condition. Any hints that this would not continue as a normal pregnancy did not truly hit until the routine 20 week anatomy scan.
At Hunter’s first anatomy scan, the technician was able to get all most all the pictures she needed and everything for the most part looked great. My husband was ecstatic when they told us we were having a little boy. They did note that they could not find a nasal bone, which is a sign of Trisomy 21, Down Syndrome, and she was not able to get adequate pictures of his heart. My doctor’s office promptly scheduled me for a follow up ultrasound in 2 weeks’ time, in hopes that he would be in a better position to gain pictures of both a nasal bone and of his heart. They did not give us any indication that they were worried, and over the next two weeks I really didn’t either.

Two weeks later arrived in a blink of an eye and I was excited to get to see our little guy again. This ultrasound went a lot faster due to only looking for the two specific areas. Unfortunately right away the tech said that the stinker had not changed positions and we were going to face the same challenges that we did in the previous ultrasound. After trying for about 45 minutes, she finally gave up and had us meet with our Doctor. Our doctor right away said that she did not know what to tell us. She said that they still couldn’t find a nasal bone in the scans, and couldn’t get a good enough picture of his heart to accurately say if something was wrong or not, but they felt something wasn’t right. She immediately called a high risk doctor and scheduled us for an urgent Level 2 ultrasound just 2 days later.
Friday, February 28th was one of the longest of my husbands and my life. The high risk specialist that we had to see is a 1 ½ hour drive, if you do not hit any traffic. Our appointment was at 8:30, so we woke up at 5:00 am to start our day for our appointment.
Once we arrived at the high risk appointment, they immediately took me in for the ultrasound. I could tell right away the difference in equipment. The blury images were no more and we could clearly see all of his body parts and make everything out perfectly. They confirmed that we were expecting a little boy, after toying with us for a minute and about giving me a heart attack, and continued to evaluate the rest of him. When they got to his heart and face, the tech had a lot of issues. He still wasn’t in a great position for them to capture the images they wanted. After 3 different techs they finally called it and called the doctor in to give it a try and look at the images. After about another 15 minutes the doctor let me up from the ultrasound table and proceeded to tell us what she believed to be the findings.
On the ultrasound, they were still not able to find a nose bone, once again indicating the possibility of Down Syndrome. We did not have any genetic testing done prior to this appointment, due to being low risk and having our general care physician caution us against it. For us this possibility was hard to hear alone and confirming that this was a very real possibility was hard, but then she continued. Not only could they not find the nasal bone, but they noticed a very serious heart deformity, and would be contacting a fetal cardiologist specialist immediately for an urgent referral as well as wanted us to meet with their genetic specialist right away to discuss the possibilities.
The genetic specialist encouraged us to do an amniocentesis that day to test for Down Syndrome and take a look at all of Hunters chromosomes. With the heart issue, we decided that we wanted to know everything we would possibly be dealing with when he arrived to better prepare, and decided the risks were worth it and asked them to do the test.
They were able to do the amniocentesis right away. For those that might be considering this test, it truly did not hurt, and for us personally, the benefits outweighed the risks. After the test, our physician let us know that we had an appointment for 1 pm at the fetal cardiologists at Children’s Hospital to perform an echo-cardiogram and find out what we were all facing.
All the people we encountered that day were loving and took amazing care of us, but Children’s Hospital right away was amazing to work with. They called us on our way to the appointment, let us know of some close food places due to them knowing how long of a day we had already had, and made sure that we had the best directions to their location, entrance, and a personal phone number for one of the nurses in case we had any questions on our way.
When we arrived they took us right back to the room and preformed the echocardiogram to see what was going on. The tech mentioned that they would not be talking much and since she was trying to focus and get the best shots possible of his heart, but a team was reviewing the footage live as she was doing it and would be meeting with us after to go over the findings. At the end of the echocardiogram, the tech said she needed to go speak with the cardiologist to make sure they had gotten all the images they needed. When a different nurse came to get us, have me clean up, and told us she would be taking us to a more comfortable room to talk, I knew it wasn’t good news. They do not take you to comfortable rooms to deliver good news, only bad.
A team of 3 people came in and told us they would just get down to it. Our little man had a very serious and very rare condition known as Tetralogy of Fallot. They started to go over a normal child’s heart, then started to show us what our little man’s heart looked like and how it functioned.
At this point in time, my mind had decided to start zoning out, and I honestly do not remember exactly how the conversation went. They let us know that this condition is often related to a chromosomal abnormality such as Down Syndrome and were happy that we had done the amnio test to get further information. They let us know that our little guy, after he was born would have to undergo an open heart surgery right away, and this first surgery would not fix the issue, but would support him until he was strong enough to withstand the more major open heart surgery. They told us that the only hospital in our area that that he can be born at is their facility at Children’s Hospital, and that we should plan to be there for 2 to 3 months with him. 3 of those weeks are prior to his birth since we live so far away they want us to relocate to their area to ensure that he is born there, 1 to 2 weeks following his birth and the first surgery, and 1 month following his second surgery.
The rest of the day is a blur and honestly that entire weekend is a blur discussing between my husband and I what we were going to do.
Monday came around and early that day I received a phone call from the genetic specialist. He let us know that the genetics came back and looked great. Our little man did not test positive for any Trisomy 21 and was negative for Down Syndrome. We had never had such great news. One issue seemed much more manageable then dealing with two life changing issues.
It has now been 1 ½ weeks full of lots of googling, speaking with the physicians, and trying to come up with a plan. We have been letting those around us know what we will be going through and trying to seek support through this challenging time. Our next step is to meet again with Children’s Hospital and explore what the next steps with them will be. Our next appointment is April 3rd, coincidentally also my 31st birthday.
Please continue to pray for our little man, Hunter, and maybe God will continue to bless us with miracles.  

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