Alex was lying on the exam table and I was sitting next to her holding her hand as we both anxiously awaited the results of the ultrasound. The nurse rubbed the imaging device on Alex’s gelled tummy with one hand and clicked keyboard buttons with the other as she concentrated her focus on the grainy movements on the screen. Alex and I were in complete agreement that the nurse would soon confirm the news we had not only been wishing for but expected to hear, “Congratulation
The following day we met with Dr. Puchalski with pediatric cardiology at the U of U. He performed another ultrasound and determined there was a definite irregularity in Joaquin’s heart. I asked him about the cleft lip and he investigated the mouth area of our baby boy and confirmed he had a bi-lateral cleft lip and palate. Dr. Puchalski then instructed us to meet with the perinatal genetics since multiple health problems are commonly associated with a type of syndrome. Since his heart was so small, he scheduled us to come back in 7 weeks so the heart could grow and he could then provide a precise diagnosis.
Those weeks flew by as we found ourselves looking at ultrasound images again with Dr. Pachalski. This time, he was able to see what the problems were: Double outlet right ventricle, large patent ductus arteriosus, LSVC to coronary sinus, large perimembranous VSD, small secundum ASD, dysplastic tricuspid valve, mild hypoplasia with abnormal movement of posterior leaflet of the mitral valve, thickened doming pulmonary valve, borderline RVH, AND right-sided aortic arch. Basically, our boy had congenital heart disease and his little heart had a lot of problems.
We met with genetics and they recommended an amniocentesis be performed. The procedure is 99.5% accurate in specifying chromosome abnormalities but also carries a 1 in 250 risk of miscarriage. At that moment, the risk was too great for us and chose not proceed with the test. Two months later, Alex and I felt like it was necessary and knew all would be well. It was during the amniocentesis that we caught a glimpse of Joaquin’s funny little personality. The doctors used a long needle to extract amniotic fluid. We watched the monitor from the ultrasound as this long needle plunged through my wife’s tummy. Though the doctor was cautious not to disturb him, Joaquin could clearly be seen kicking the needle, even trying to grab at it with his hand! A month later we met again with genetics and received some counseling. Joaquin had been diagnosed with recombinant 8 syndrome or chromosome 8 syndrome. Half of the 8th chromosome was missing and the existing half copied itself. This is referred to as deletion/
From that point both the geneticists and social workers worked hard to pull together information related to this syndrome since it is so rare. Alex and I would get periodic phones calls from their offices with updates as they discovered them. Finally, they were able to give us the official report on the study of children with recombinant 8 syndrome. In the midst of sustaining a life full of kids, work, sports, school, church, and everything else associated with a busy young family – we now had to try and accept these facts that pertained to our little Joaquin. Some of which included: cardiovascular and other major malfunctions, moderate to severe mental retardation, 71% of children died during first 3 years of life, and all children who died with this syndrome, died from complications of congenital heart disease.
A month passed and Alex and I were frantically driving to the U of U Hospital to have a baby! I was driving cautiously on I-15, obeying the speed limit, and she would get mad at me because I was driving too slow. Then I would speed up and a minute later she was grasping the armrest, yelling at me to slow down! The medical staff was expecting us and had a surgical room prepared including 3 doctors and 6 nurses – just in case. The delivery was quick and easy, at least from my perspective. Joaquin was finally here! The doctor held Joaquin up for a picture and handed him to a nurse who handed him to another nurse though this small opening in the wall that looked like a drive thru window. I was able to see Joaquin in the PICU and was surprised how big he was compared to the babies there. Joaquin was a full term baby weighing in at 8 lbs 5 oz. and measuring 20.6 inches long. Besides the bi-lateral cleft lip, he looked like a strong, healthy baby. I know he was meant to come into this world big and strong because he would need all that strength to endure what lay ahead. Later that night, I walked with the Life Flight team as we escorted Joaquin across the skywalk to Primary Children’s Hospital.
Thus began our family’s wonderful relationship with the doctors and nurses at Primary Children’s Hospital. Joaquin spent his first 2 months there. He underwent his first heart surgery at 17 days old. Joaquin was never alone. Alex and I were with him and those few times were weren’t, another family member kept him company. Seeing Joaquin constantly hooked up to various machines with bundles of wires accompanying him in bed became normal for us. In those two months, Alex and I took a crash course in nursing and we were confident and excited to finally bring our baby home. The relief of having him home was short lived as 4 days later, Joaquin struggled and had to return to Primary for 2 weeks.
Once home again, the family had to adjust to this new adventure we called Joaquin. He ate through a feeding tube and had severe reflux so he always had to be monitored or risk aspiration. Alex organized a feeding chart and medication chart which was necessary considering we had to administer a host of daily meds including: calciferol, enelapril, ferrous, furosemide, digoxin, prevacid, reglan, aldactone, actigal, zantac, vitamax, ferosemide, and enalapril. And where Joaquin went so did his little portable oxygen tank.
At four months old, Joaquin had his bi-lateral cleft lip repaired and palate prosthesis installed by the amazing and compassionate Dr. Siddiqi. At 5 ½ months old, he endured his 2nd heart surgery. At 8 months, doctors repaired a hernia and surgically placed a permanent Gastrostomy tube (G-tube) into his tummy by which he would eat from that point on.
Joaquin’s 1st year was very difficult - periodic trips to Primary ER and many medical staff passionately trying to find solutions to his decreasing weight, energy, and overall health. At the end of his 1st year, Joaquin’s cardiologist notated his distinct overall diagnosis as, “…failure to thrive may be due to his recombinant 8 syndrome.”
During his time at home, Joaquin’s siblings quickly learned the value of service and patience. It took a lot of work to care for Joaquin and the kids did anything and everything they could to help him and make his life a little more comfortable. During his first 3 years, 3 therapists (vocational, speech, and physical) would work with Joaquin 3 times a week. During the first 2 years there was not much improvement. He mostly just laid on his back and observed life around him. This developmental plateau quickly changed as Joaquin’s new younger brother Jesse started to not just watch the world around him but explore and engage the world. It was amazing to see the progress Joaquin made just by watching his little brother and trying to copy him. Joaquin went from laying on his back to scooting on his back, from laying with arms on ground to clapping his hands, from no verbal communication to uttering his first word – MA-MA-MA! As Jesse grew so did Joaquin. Jesse would pull himself up and stand in front of the TV and inspired Joaquin to try until Joaquin was able to (with some help) support himself briefly on his little chicken legs in front of the TV.
After working weekly with the dedicated therapists from Kids on the Move, Joaquin transitioned to Dan Petersen School in American Fork. For the next 3 ½ years the staff, therapists, nurses, bus driver, assistants, and teachers, became his school family at his home away from home. Joaquin loved riding on the bus. We would buckle him in his wheelchair and he would get so excited to see or even hear the bus approaching our house. Joaquin progressed so much at school. It was during his life attending Dan Peterson that he made the greatest strides. We would put him in crawling position and he would support himself for a few seconds then his head would bow down and he would end up on his back. As his neck and leg strength increased, Joaquin was able to support himself on all fours for longer periods of time. Eventually, he began attempting to move forward; arms down and leaping forward like a frog. At one point, Alex and I were considering the need to move since Joaquin could not navigate the stairs. He pushed himself from sitting at the top of the stairs with a look of fear to ever o cautiously sliding down one step at a time with his back fully pressed against each stair. He couldn’t speak but clearly found a means to communicate that was comfortable for him – point and yell. His personality burst with joy and happiness. Joaquin’s favorite toy was any electronic device. Cell phone, remote control, DVD player, and TV were all potential toys as he attempted to push buttons as long as he could until someone ruined his fun and pulled him away!
It was common for Alex or myself to exclaim humorously as all our kids were causing a raucous in the car, “Joaquin, you’re the only one that behaves!” He was a great traveling companion. Whether family road trips or cruising around town, Joaquin was content looking out the window, patting the head of whomever was sitting next to him and watching his movies. It was comforting to look back in the rear view mirror and see little Joaquin make eye contact with me and give me a big smile. Joaquin flew on planes, rode a boat under the Golden Gate bridge, saw the Oakland A’s play, strolled the Santa Monica pier, screamed on rides at Disneyland and Disneyworld, hiked the red hills of St. George, camped in the forests of Utah, sat by the lakes in the Grand Teton National Forest, and pointed at the fish at the Monterey Bay Aquarium.
Yes, it is a fact that Joaquin spent more time in and out of hospitals then I ever have in my lifetime and more than my family combined. Yes, it is a fact that Joaquin had numerous moments in his life, which brought discomfort and pain. Yes, it is a fact that Joaquin endured and fought for his life on many occasions. It is also a fact that Joaquin would only be with us for a limited time due to inevitable congestive heart failure. It is a fact that the overwhelming majority of Joaquin’s life was spent smiling, laughing loudly, screaming with happiness, and surrounded by family that absolutely loved him. And the greatest fact is Joaquin is in heaven surrounded by loved ones and in the presence of our Heavenly Father and elder brother Jesus Christ.
Joaquin fought as long as his physical body would allow. In 6 years with this little boy, I have learned more from him then any other time in my life. Joaquin lived every moment with a curiosity to learn, an eagerness to smile, a willingness to accept love and a determination to show love.
Our lives have been severely changed for good because of Joaquin. I reflect to that moment leaving the OBGYN after that first ultra sound thinking, “This was not supposed to happen to us.” 6 ½ years later I am left in humble gratitude, rejoicing, “Thank you Lord for allowing this to happen to us!”
I love you Joaquin!
Story by my stepdad
Xoxo