When we received the diagnosis of Trisomy 18 for our unborn son, we were told that this condition is "incompatible with life" and that if he was born alive, he would not live long. We went home from the hospital on hospice with our fragile son and focused on living moment to moment and enjoying every second we had with him.
I will never forget the day our pediatrician came into our home, assessed him, and told us that it might be time to get some other specialists involved because it looked like we were going to have our son for awhile. There is no greater joy than hearing those words.
We began attempting to leave the house a little more. We walked big brother to school, we went to doctor visits, and we went to a few of big brothers' sporting events. He was bundled up in a baby carrier wherever we went, because he still did not tolerate being far from mom. We discovered our camping backpack (diaper bag) also worked great as an oxygen tank carrier!
We began to see how life with a medically fragile child would fit into our family.
And then he got sick for the first time.
His first illness was a simple cold. He had a runny, stuffy nose. To many, that wouldn't seem like much; but for a child that already has difficulty breathing, any amount of swelling and increased drainage made breathing even harder.
We had to stop all attempts at oral feeds. Breathing was a priority.
We started trying everything to decrease the amount of nasal drainage, so that he could breathe easier. He received saline nasal spray, we created a humidifier tent with our humidifier, chairs, and a blanket, and we sat in a warm steamy bathroom.
Our son continued to struggle with breathing - he looked pale and worn out. We had already come through so much. A cold could not be the thing that killed him!
We increased his oxygen and called the doctor.
We were able to get right in to see our doctor, and it was clear that he was trying to fight off pneumonia. He was immediately started on antibiotics.
The antibiotics did help. He started breathing easier, and he started getting some of his spunk back.
Little did I know that this would be a battle that we would fight for the next five months. Cold and flu season had arrived, and our fragile son caught everything. Every cold seemed to be harder on his already taxed body. By the time November came, his body had enough. He was really struggling to breathe and started turning purple from the waist down. We took two hour shifts around the clock helping him keep his airway open so he could breathe.
We called upon our pediatrician again, and we were admitted to the hospital, so that we could have as many specialists see him at one time to create a plan of action. We arrived at the hospital with nursing staff anxious about the severity of our son's illness and status. They discussed a possible need to have him admitted to the intensive care unit. His body was having a hard time getting rid of carbon dioxide (an acid), and consequently his body was too acidic.
The doctors all had input on what we should try. We heard everything from a tracheotomy (a surgical opening in the trachea or windpipe and the insertion of a breathing tube), a nasal trumpet (a tube inserted in the nose and into the back of the throat), and also BIPAP (a nasal mask using pressurized air to help keep the airway open). We sat with our pediatrician and talked at great length on what we all thought would be best for our son.
We ruled out a tracheotomy. Our son had been diagnosed with a diaphragmatic hernia (hole in the diaphragm), and we were afraid any suctioning of the tracheostomy tube could enlarge the hernia. We attempted the nasal trumpet. Our son screamed and cried. They had difficulty even getting it in. It did not help him, and he just didn't have the energy to cry anymore. We abandoned that idea and moved onto BIPAP.
The BIPAP arrived and got put on him late in the evening. He fussed for a few minutes and then fell into a deep sleep. It was the first time he had slept for more than 30 minutes in over 3 days. We let him sleep for 3 hours. The BIPAP helped alleviate some of his obstruction issues, so his breathing was quiet for the first time since his birth with the machine on.
He awoke a completely different baby. He had energy. He was happy.
We knew that it was time to start talking surgery. We have always vowed comfort for our son. It was clearly not comfortable to struggle with breathing. We needed to do something to make breathing easier for him. Our search for help began. We finally reached out to find support groups, and it was the best decision we have ever made. Finding SOFT (Support Organization for Trisomy 18, 13, and Related Disorders) was like finding another family to support us. That step helped our son become the little boy he is today…3 years later.