Our story begins with the birth of a beautiful little boy 17 years ago. Our birthing room was not filled with excitement as his sweet face emerged, but with fear and anxiety. Our son was born with a genetic condition diagnosed at 22 weeks gestation called Trisomy 18, and we knew that even being in the delivery room with a live baby had already surpassed medical expectations.
He was born laboring to breathe, and his innocent life blessed us for 9 amazing hours. It is "funny" to think how only 9 hours can shape your entire life. We never knew how those precious moments would all come back 14 years later when we went in for a routine ultrasound and discovered that our fourth baby had the same genetic condition our first had.
Trisomy 18 occurs in approximately 1 in 2500 pregnancies. Almost 70% of unborn babies diagnosed with this condition are stillborn, so 1 in 6000 babies born have this diagnosis. The babies born living only have a 50% survival rate at 1 week of age and only 10% will celebrate their first birthday.
Receiving a diagnosis for two of your unborn child that will result in severe disabilities at a minimum and most likely an early death is the most horrific experiences I have ever had. The day our first son was diagnosed was awful, but adding on a second child being diagnosed with the same condition and already living through it before was even harder. How do you tell people? How do you tell your children that they might lose another brother? How do you stay happy about the life growing inside you when you are dying inside?
For me, I went into "do" mode. I called doctors, I researched, I set plans, I planned a funeral and a life. I sat my 6 and 3 year old down and gently told them that their brother was sick with something called Trisomy 18, and that we didn't know how long we would get to spend with him. I stressed that every day we got was a miracle, and that their important job was to love him as much as they could. In the meantime, I cried at every alone moment I had. I cringed at going into the doctor's office and seeing happy pregnant women and the pity faces of staff that knew our situation. I feared heartbeat checks and every ache and pain that might be a sign of early labor or the death of my unborn son.
The birth day came in June, 2011. The labor was emotionally challenging. The birth of our first son clouded my thoughts, and I feared the same outcome for our child. I remember saying that I just wanted labor to be done because I was emotionally exhausted. I had spent 6 months in constant fear and depression, and my cries for labor to end meant way more than the physical pain.
Our little boy was born and let out a weak cry. He was tiny yet beautiful. Our beginning days were filled with apnea spells, oxygen, feeding tubes and very little sleep, because I was too afraid to miss anything. We had so many visitors which added to the sleeplessness. There was also a lot of educating his two big brothers. They of course were afraid. Their brother was small weighing in at a little over 5 pounds and he was on oxygen, an NG tube, and pulse oximetry. We opted for Hospice based on the experience with our first son. Our goal was to spend as much time as a family at home, so we left the hospital after two days. Our house immediately became a mini hospital. Our rooms became filled with monitors, oxygen concentrators, syringes, feeding tubes, breast pump equipment and storage bags, and memory making activities. I laugh about this now because in the three years since our miracle son was born, the medical equipment has only multiplied and gotten bigger as he has grown.
Our son was kicked off Hospice for good when he was a year old. We had went on and off throughout his first year based on his needs. I needed their support, yet when he was thriving, we opted to do surgical interventions to keep him comfortable which required him to be off Hospice. Breathing was his big issue. He was born with a small jaw and little room in his throat. He also was born with a hole in his diaphragm (diaphragmatic hernia) which prevented his lung from being able to fully expand. He also suffered from chronic nasal congestion, and we discovered that his adenoids were blocking his entire nasal passage.
His initial surgeries were two part and occurred at 7 months and 10 months of age. The initial surgery allowed him to come off oxygen and NG tube. He still needed (and needs) BIPAP (a machine that sends pressurized air through a nasal mask to help keep his airway open) at night to assist with obstructive sleep apnea, but we can no longer hear him breathing from the next room while he is awake. He has gone on to have four more surgeries, three of which were for central line placements for chemotherapy to treat kidney tumors (he didn't want to keep a central line!). His first "elective" surgery occurred last spring and was to lift his droopy eyelids to assist his vision.
Hitting his first birthday was a milestone we never thought we would see, let alone a third birthday! Our lives have changed dramatically since his diagnosis. I chose to quit my job as a hospital nurse to stay at home and care for him full time and to also provide some sort of "normalcy" for our older boys and a new baby brother.
We spend 4 days a week in therapy and/or doctor appointments. Our doctor appointments have lessened over the last year, and it is great to hear a doctor say that he doesn't need to be seen for 1 or 2 years because things are stable. I will admit that I also hear "we think he will be alive for another year".
We still live each day as a miracle, and I will admit that my fear still lies in the background.
I fear the statistics; that only 5% of children with his condition will live to see their 5th birthday.
I fear illnesses; a common cold has already resulted in pneumonia at least twice, and pneumonia is the top three cause of death in children with Trisomy 18.
I fear his obstructive sleep apnea. Although it is better, he still has it, and that is the number one cause of death in children with his condition.
I also fear medical professionals. Seeing this side has changed my own perspective.
I still squirm knowing that somewhere in my house are my son's funeral plans (I made my husband hide them), and that his urn was commissioned. I will say though that I specified that it should be big enough to hold a cup of ashes (an adult amount) when an infant's only amount to ¼ cups…all knowledge that I wish I didn't know. Maybe I knew deep down that our son would be with us for awhile all along.