Morgan's Diagnoses

(I apologize for the length, her story is complicated and contains many parts)

My belly was measuring a little big so my OB ordered an ultrasound to check Morgan's size. We were unprepared for what they discovered. Morgan had fluid around her lungs and I had a large amount of amniotic fluid in my uterus, which explained why I measured so big. Our girl was in trouble. The next few hours were critical. The Ultrasound tech went to fetch my OB. She met us in the ultrasound room within minutes. She was sending us up to IMC that afternoon.

Our appointment was with Dr. Richardson at Maternal Fetal Medicine in Intermountain Medical Center. We had another ultrasound which lasted for about an hour. The tech looked at everything, measured everything, paying very closed attention to the heart and lungs. She checked circulation in the brain. All the while, Morgan moved and kicked. I tried to take heart from my girls activity. When the tech was done, we waited for what seemed like a very long time. Then Dr. Richardson arrived and the ultrasound resumed for another 30 minutes. There was silence with only a few question aimed at me. Questions like, "You have a lot of fluid in there, do you have trouble breathing at all?" "No". "Have you noticed any differences in the pregnancy between this one and with your son?" "No." "Have you noticed any difference in the baby's activity, her kicks?" "No." I replied. More silence. I tried to follow what he was looking at. Most of the time he zoomed in so close that I couldn't begin to guess. The tension in the room was unbearable. My level of stress and nervousness seemed crushing. I didn't know what questions to ask. Neither did Danny. My only thought was, will she be ok

Dr. Richardson finally finished the ultrasound. Told us to wait. He left the room. Danny and I waited for about an hour. It was interminable. I paced. I could not keep still. I was angry and felt as though everyone had lost their mind. That Morgan was STRONG. More times than not, she kept me awake at night with her activities in my womb. That everyone was underestimating her. I was angry. And scared. Mostly scared. With nothing to say, Danny and I spoke very little. 

When Dr. Richardson came back, he had pen and paper and began drawing a diagram for us. "This is what a baby's chest cavity is supposed to look like." He began. He drew us a diagram of a healthy baby's chest with lungs and heart. "This is what your baby's chest cavity looks like." and he drew a chest with a heart, a small looking ball on the right and one a little smaller on the left, and a lot of black space. Morgan's lungs were compressed and squeezed into tiny balls. He told us that there were three possible causes. And he wrote them down in the order of probability at my request.

1. Chylothorax
2. Hydrops Fetalis
3. Down's Syndrome

He then explained that this sort of thing took weeks, sometimes months to resolve with the baby needing to be in the NICU. That she would need tubes inserted in between her ribs to drain off the fluid. Then he went on to say that we could get her out now or wait. Waiting would let her grow more but there was a chance she could be a still birth. My Heart stopped when those two words were uttered. Still birth. Then he said that she would be pre-term if we got her out now but we would know she is alive. Danny said he wanted her out. He was haunted by something Kyle said earlier as we left our OBs' office. "Baby is dying." He had said. I knew that if I submitted to the growing panic and dread growing inside me that I wasn't going to make it through this. I told Dr. Richardson that I wanted to know more. He seemed a little at a loss. He could not tell us with any certainty if we should wait a little while or get her out now. Unsure of the best course of action, Dr. Richardson said he would consult his colleagues and call us with a plan in the morning.

At about 8:00 in the morning I got the call. He had consulted his colleagues and all were in agreement that she needed to come out as soon as possible. He told me that I needed a steroid injection for two days starting that morning. Then after the steroid injections had a chance to take effect, I would check in at the University Hospital to be induced. They had a NICU equipped the handle Morgan's case and she was close to Primary Children's Hospital should she need to be transferred later on. So we followed the plan, I had the steroid injections, and that Friday evening, I was induced.

It took 26 hours to get her here. She was born on Sunday, April 6.

I was unable to hold her. There was no time. She couldn't breathe. As soon as the umbilical cord was cut, she was passed through an open window to the NICU where a team of doctors and nurses were ready for her. Time slowed down. Danny sat in the silence as we waited to learn if they got her on the respirator. If she was breathing. We waited. I couldn't stop crying. I stared at the window. Nothing in the world existed, only that window and the news that would come from it. I was scared to death. I only got a glimpse of her. I could not hold her and see what she looked like. I could not nurse her. I could not look into her eyes and welcome her to the world. She was unable to nurse. She was unable to breathe for herself. Then a nurse came to the window. There was no Apgar score. "We got her intubated. She's stable." She was successfully put on a respirator. She was born 7lb, 3oz and 19 inches long. She was safe. I was exhausted and could no longer keep my eyes open. The labor was difficult and they were close to having me in for an emergency c-section. I was grateful they didn't need to. I was at high risk for hemorrhaging. I didn't care. I just wanted to be strong enough to get to her. Five hours later, after they performed the procedure to insert tubes on her right and left side to drain the fluid from around her lungs, a nurse wheeled me in to see her. With Danny by my side, I looked at my baby girl. I tried not to cry, but failed. She had so many tubes and sensors hooked up to her. The respirator made a lot of noise as it breathed for her. After the fluid was drained off her lungs, she weighed 6lb, 2oz. 

They ran test after test and was unable to determine the cause. They told us they thought she had Chylothorax. They told us she had pulmonary hypertention and a VSD, a hole in her heart. A Geneticist came by to examine her and felt there was no need for Genetic testing. She looked like a perfect baby girl. We absorbed all this the best we could. In the shell-shocked way I imagine people do in life or death situations. Then the news came. The thing is, no one knew if her lungs had a chance to develop in the womb before being pushed in by the fluid. Or if the fluid appeared before her lungs could develop... "Her lungs are fully developed." I felt the first glimmer of hope the moment our Neonatologist, Dr. Null told us this. She could pull through this. I needed her to pull through. 

Thursday night was the hardest night. There were many. But that Thursday, only a few days after her birth was the worst of them. We thought we might lose her. One of her chest tubes came out and the fluid was building up quickly, pushing her lung closed. She couldn't breathe well. She was struggling. I will never forget. She arched her back. She wasn't getting enough air. She was not on the respirator. She had been extubated, taken off the respirator the day before. She needed a new chest tube. We waited as the procedure was done. And at 2:00 in the morning, a nurse finally came to get us. She told us that everything had gone well. That Morgan was stable. She was asleep and looked comfortable in comparison to how we had seen her hours earlier. Completely spent, we went home and right to bed. Only to be awakened about an hour later. I came instantly awake as my cell phone rang. "Hello?" It was Morgan's nurse. I was then informed that Morgan had stopped breathing and had to be re-intubated. Sleep proved to be impossible after that. I didn't know it at the time, but Morgan would need to have four more "Chest Tube Procedures" over the course of the next six weeks before making a turn for the better. 

Morgan was transferred to Primary Children's Hospital on April 19. After about two weeks of being at the University Hospital. I was nervous about the transfer but it turned out to be the best thing for her. Once we got settled in our new place, things began to happen. Our Neonatologist, Dr. Malleske, was energetic and easy to talk to. He went at Morgan's case like she was a puzzle he was dying to solve. He ordered blood work up for her immune system since she lost and was continuing to loose, great amounts of lymphatic fluid. His first concern was making sure she could fight off infection. He then ordered a CT scan of her chest. He also ordered, despite the Geneticist not seeing a need to, a Chromosome Analysis and DNA Micro Array test. He said to me, "I want to spend a whole bunch of your money to rule out a whole bunch of scary things." Of course I said yes. It felt good seeing the actions taken to figure out a way to help Morgan. The U did a good job as well. She was on an experimental medication called Octreotide, but there wasn't much improvement while she was on it. 

Then the CT Scan came back. Dr. Malleske had been talking to some doctors in Boston who had seen this kind of thing before. And the diagnosis was made. Congenital Pulmonary Lymphangiectasia. 

"Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that is present at birth (congenital). Affected infants have abnormally widened (dilated) lymphatic vessels within the lungs. The lymphatic system helps the immune system in protecting the body against infection and disease. It consists of a network of tubular channels (lymph vessels) that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph accumulates in the tiny spaces between tissue cells and contains proteins, fats, and certain white blood cells known as lymphocytes." -WebMD

Dr. Malleske came to us with a plan to try her on an experimental medication to help her. Sildenafil, or Viagra, would be giving to her in rather large doses. Sildenafil is used to treat pulmonary hypertension in premature infants. And of course, for erectile dysfunction. The whole idea behind it (mind you, I'm not a doctor and this is how I understood it when explained) is that it affects the soft tissue lining Morgan's lungs the same way it affects the arterial wall in pulmonary hypertension. I didn't really care how it worked. As long as it worked. Surgery would be the only other option and the doctors were reluctant to go that route. And after hearing what surgery would entail, I was reluctant to go that route. "Not without its risks." translated to me that there was a possibility she wouldn't survive or if she did there would be problems later. So, Sildenafil being the least invasive method to treat Morgan, I gave my consent, and her treatment began on April 24. 

Second Diagnoses

Our days settled into a routine. In the morning, I would drop Kyle off at Grandpa and Grandma's, drive to the hospital where I would meet with and listen to the doctors and nurses, spend the rest of the morning with Morgan, and then pick up Kyle for lunch. I tried to keep things as normal for him as possible. After dinner and bedtime, my sister or Grandpa would come over to keep an eye on things while Danny and I drove up to see Morgan and say goodnight to her. Often, we wouldn't get home till midnight or later.  In the morning, I always tried to get to the hospital before the doctors did their "rounding." That's when the whole team would meet to discuss a patient and come up with a plan of care for the day. The team usually consisted the attending doctor, RN, Morgan's nurse, the Respiratory Therapist, the Pharmacy Tech, and two other people whose job I never did catch. During rounding they would go over every aspect of Morgan such as how much chest fluid came out in the last 24 hours, oxygen levels, white blood cell count, nutrition, medications and many other details of which I couldn't keep track. It was during such a rounding that they added toward the end, "Oh, and the Chromosome Analysis came back and there is an abnormal marker." As soon as I heard this my whole body snapped to full attention and I was a little confused.

"Abnormal marker?" I asked, "what does that mean?" The attending doctor shrugged and said "I don't know the answer to that one. We will have the Geneticist call you."

I received a call later that afternoon from the Geneticist. He was very soft spoken and I had to hide from the wild Kyle to hear him. "You wanted to ask me some questions?" "Yes, about Morgan Marcario. Her Chromosome Analysis came back and there is an abnormal marker? What does that mean?" He went on to explain that an abnormal chromosome marker could have clinical significance or no clinical significance, depended on what genes the chromosome marker contained. We wouldn't know that until the DNA Micro Array came back. "When will that come back." In about a week. Please let it come back as nothing to worry about.

Waiting for the results on that one was difficult. I found myself wishing that they had waited to give both results together instead of sitting on pins and needles for the final result. Finally the day came and I got another call from the Geneticist on Friday morning, May 9, 2014. A date which is now burned into my brain. I answered and my mind exploded. "Can we meet bedside today?" He asked. "Yes." We arranged a time and I hung up. I couldn't think of a thing to ask. He wouldn't want to meet us if it were good news. I told Danny he wanted to meet. I could see the same emotions I was experiencing play on his face. 11:00am, We would both be there.

I was glad that it was Friday. On Fridays, my Dad would watch Kyle while my Mom would take off from work to drive me to the hospital to give me a break and so she could see her Granddaughter. I was grateful for her company. I felt the need to have as many people around me as possible. We arrived at the hospital a few minutes before 11:00am. Susan, Morgan's primary nurse, met us in the hall. "The Geneticist is here, he had to take a quick phone call and will be with us shortly. I got a family room for you to meet in so you can talk." She then asked if it was alright with me if she could be there to hear what he had to say. "You are welcome to sit and listen." I said, "Also, please ask questions if you like." I wanted as many people there as possible.

Led by Susan, we all shuffled into the family room, which was right across the hall from the room where Morgan was staying with four other babies. There was a blue couch that folded out into a bed along the wall on the left side of the room. There was a hospital glider angled next to the couch, and a few chairs facing the couch on the opposite side of the room. There was a small bathroom in the far corner and a small window letting in the morning light at the end of the room. The room was well used, where countless families have come and gone. Some slept in this room with their NICU baby in preparation for going home.

My Mom and I sat on the couch while Susan took the glider. We had just sat down when Danny entered the room. He took a chair. We were all there. We waited. The room was tense, but everyone chatted a little to try to lighten things up. Then we all fell silent as the Geneticist walked into the room.

Dr. Botto, the soft-spoken man, came in with a colleague following behind him. In his hands he carried a stack of papers. I could not take my eyes from them. He wouldn't be carrying so many papers if the results meant nothing. He introduced his colleague whose name I don't even remember, and sat down directly across from me. I leaned forward. Dr. Botto began to speak. "Your daughter is very beautiful, very cute." "Thank you." And now the results please. "Your daughter has a very rare but well documented syndrome." As he spoke, he began handing me a paper showing her chromosomes. My God, they found something.

The world tilted. Everything began to move sideways. Gravity was changing and I had this crazy image of all of us sliding, furniture and all, towards and out the window, like some scene from the movie Inception. Crazy. I know. But no crazier than what the doctor was saying about my daughter. Focus. Pay attention to what he is saying. You have to absorb all of it. You have to know for Morgan's sake.

I forced myself to focus on every word the doctor said and all the information he handed me. "Your daughter has Isodicentric 15 Syndrome or Idic 15 Syndrome." He then explained that she has a partial, inverted copy of the q arm of chromosome 15. That most who have this syndrome have hypotonia - low muscle tone. Developmental delays and sometimes learning disabilities; she would take longer to walk and longer to talk. Autism and Sensory Processing Disorders are common and that about 50 percent of kids affected with this will have Epilepsy. The symptoms vary greatly from person to person. When he was finished, there was a long silence.

Then the questions began.

"Okay, she will take longer to walk and talk, but she will be able to walk and talk?" Danny asked. "Yes, she will need Early Intervention but yes, anything is possible." Replied Dr. Botto. My Mom asked, "Would she be able to go to school, socialize like other kids?" "With Early Intervention, anything is possible." Said Dr. Botto. More questions were asked, most with the answer "I don't know." Early Intervention was the reoccurring theme. Even Susan asked a few questions. "So, she may have seizures?" I asked. "Yes." "And they can be controlled by medication?" "Yes, you will need to work with a Neurologist, but yes." Replied Dr. Botto. "Was this something that she got from either of us? Is this something we gave to her?"  Ask Danny. "Most of the time, this is something that occurs randomly." Replied Dr. Botto. He went on to explain that sometimes, one of the parents can have just the tip of chromosome 15 duplicated and that is harmless, but then their kids would be more likely to inherit Idic 15 syndrome. But most of the time it is random. But if Morgan were to ever have children, they were likely to inherit the syndrome. She won't be able to have children. It was at that moment that tears began to come. I stopped them. You don't know that, don't jump to conclusions. The conversation continued. Speculations were made. Then Danny asked the question, "Is this what caused here Congenital Pulmonary Lymphangiectasia?" "It may have something to do with it, it may not." So they don't know that either. The room became silent. All of us trying to absorb this impossible information. I had one more question. A hard question. "Will this affect her lifespan?" Slight pause.  "No. But I'm obligated to tell you that there is a rare phenomenon of seemingly healthy kids with this syndrome dying suddenly in their sleep. We don't know what causes it. Research is being done on it. Again, it is rare, but you should know about it." He replied. The room was silent again. There were no more questions. Dr. Botto told us that if we thought of more questions to have the hospital contact him and that he wanted to follow-up with Morgan in a year. He again said how beautiful she was, and with his colleague, took his leave.

We all sat stunned for a while. We spoke a little. We were glad we had the results. Glad we had answers. But I was very wary. My thoughts were a little chaotic. One thought coming in and another leaving simultaneously. All the while trying to accept the reality of the situation. Feeling very shaken and a little ill, one thought stood out and stuck. She will have to contend with this for the rest of her life. And just like that, the images of my daughter overcoming what she was going through in the hospital and coming home to grow into a healthy, average kid, disappeared.

We grieved. It took days for the diagnosis to sink in. We could handle no more. No more bad news. No more tests. We reached our limit to cope. Then, a miracle.

I came in to see her. I was on my normal schedule and was headed for the sink to scrub-up before seeing her. I saw her doctor from The University of Utah hospital in the hall on my way to see Morgan. I spoke briefly to him before going in. I sensed a difference in the atmosphere. What was it? Excitement. The staff, the nurses, the attending doctor. Everyone seemed uplifted. Morgan's chest tube output dropped in half!

Every two days her output dropped in half until it was nothing. within a week, her tubes were out and they were increasing her feeds. The medication worked. We still had a long way to go before she was sent home. She had to learn how to eat. She had to learn how to be an ordinary baby.

On day 62, We finally brought our daughter home.

Our new journey began. 

1 comment:

  1. Powerful story, and connects so much with ours. My son has partial 15 duplication sq 23 and a full extra X chromosome. I LOVED reading your story thank you, I felt as though I was reading my own feelings when our family received the diagnosis x