Our journey of uncertainty began with the birth of our daughter Ava. She was born on March 20th, 2007 at Yale Childrens Hospital. Prior to her birth, during one of her many ultrasounds, we were told that Ava was missing the corpus callosum, which is the piece of the brain that helps the two sides communicate. We were told that it might not affect her at all, or she could have developmental delays.
After her birth, it was hard to tell how things would turn out for Ava. She seemed to be reacting okay, yet additional testing showed she had hearing loss and congenital cataracts in both eyes. Ava also had elevated CK levels. This led geneticists to look at a form of congenital muscular dystrophy known as Walker Warburg Syndrome. Ava’s first few months of life were rather uneventful, minus the cataract surgeries in her eyes. But than things started to change, ever so slowly.
First, she was hospitalized with pneumonia. This hospitalization, while short, put things into perspective. We knew things would be different. Than came her 2nd hospitalization for pneumonia, in the summer of 2007, where she stayed for 2 weeks. She spent a good portion of her time in the ICU during this stay, and was even baptized there. We met a lot of people during this course of pneumonia, some who were there when she died two years later.
It was during this time that the doctors gave her a feeding tube through her nose, because she wasn’t eating well. We had to learn how to put it in if it ever came out, how to feed her using the feeding pump, and watch her closely in case she vomited. Ava didn’t like the tube through her nose much, plus she had acid reflux, causing her to projectile vomit, almost after every feed. She just looked horrible.
We opted for the safest option for Ava. In February of 2008, Ava had surgery for acid reflux. During the surgery, they put a feeding tube in her stomach. This meant that she wouldn’t have to swallow any food, decreasing the risk of food aspiration into the lungs and aspiration pneumonia.
Ava thrived. She gained weight quickly, and earned herself the nickname “chunky munk”. With all this going on, we were still waiting on a genetic diagnosis for her. While they thought she had Walker Warburg, they could never pinpoint the correct gene.
The next 18 months were relatively uneventful for Ava. We did move down to Virginia, as I took a Department of Defense job in Washington, DC. She remained pretty healthy.
You know what they say, new house, new state, new job, NEW BABY! Beth got pregnant with Keira not too long after we moved to Virginia. Things were going relatively smoothly with this pregnancy until one ultrasound, about half way through the pregnancy. During this routine test, it was noticed by the doctors that the ventricles in Keira’s brain were enlarged. These 4 ventricles are the areas of your brain where cerebrospinal fluid can build up, causing higher intracranial pressure. In Keira’s case, these spaces were growing on a faster than normal basis. Because of this, Keira was immediately diagnosed as having hydrocephalus (water on the brain). Untreated, this disease is fatal.
Over the coming months prior to birth, doctors kept a close eye on the size of the ventricles, watching them as they expanded and finally deciding that Keira would be born by C-section. During the middle of December, 2008, Beth was admitted to a hospital in Virginia with complications. About a week later, Keira decided she had enough, and was born on Dec 22, 2008. She was immediately taken to the NICU, but was doing well.
Because of Keira’s hydrocephalus, she needed a shunt placed into her skull to drain the excess spinal fluid. She had surgery in the first week of January. Everything went well for Keira, and she actually seemed to be progressing a little bit. But then during a routine eye exam, they noticed Keira too, like Ava, had congenital cataracts in both eyes, eventually requiring corrective surgery. About 2 or 3 weeks after that surgery, Keira had an episode where her tongue would retract and block her airway.
The doctor called me at home and said they wanted to perform a tracheotomy on Keira, giving her a separate, more stable airway. So two days later, Keira had her trach surgery. She did very well with the trach, and didn’t always require oxygen. She came home almost a month later, and did well.
Fast forward 6 months, with our move back to Connecticut. One of the many reasons for our move was to be closer to family in case of emergency. It didn’t take long for the emergency to happen. Despite us buying a house in Connecticut, I still had to commute to Washington D.C. every other week for a 7 day shift, until I found a job in Connecticut. During my shift on Sept 11, 2009, Beth called me and told me Keira was going to the hospital by ambulance because her oxygen was dropping and she was having seizures. I immediately became anxious, and told my supervisors I was leaving.
Keira was sent to Yale hospital, into the ICU. I left Washington, D.C. around 2 in the afternoon, and after a quick stop over at our new house, I went up to the ICU at Yale, where I spent the night with Keira. She was doing okay, just needed a little extra support. Well we had no idea that night, that 7 months later, on January 31, 2010, she would still be there.
Just over one week later, Ava started to show signs of infection. She had fevers, and was coughing more than she usually would. On Saturday, Sept 19, Ava was not herself. She was more unresponsive than her normal baseline, so I hooked her up to Keira’s monitors that she had at home. I watched her for a while, but she started to go downhill, so I called 911. Ava was transported to Bridgeport hospital first, but than sent to Yale on a ventilator.
I was very scared for Ava. I didn’t expect Ava to pull through this round. But she did. Ava was a fighter. She came off the ventilator after two days, and was doing pretty well. During this 4 week hospitalization, Ava was moved into the same room as Keira, so they got to be roommates for a while. She required oxygen support, but eventually they discharged her, with oxygen supplies and equipment at home.
All the while, we were battling the state with the many applications to Medicaid and other state services, trying to get Keira home. It was around this time that the insurance company decided that since Keira was doing so well and stable, they wouldn’t pay for her hospitalization. They considered her care from that point forward to be custodial. My insurance company does not cover custodial care. This is essentially the battle we remain in with Keira.
Ava was discharged in mid October, but each day she was home, we couldn’t wean down her oxygen much. She came home on 2 liters of oxygen, and was at or above 2 the whole time she was home. She also had fevers throughout the day. Finally, on Halloween, we took her to her pediatrician who took one look at her and said we needed to get her back to Yale.
This admission to Yale lasted for almost two months. She had ups and downs. She was even transported to the general pediatric floor, with the hopes of coming back home. But she was only there for like two days before she had to go back to the ICU. At the time she went back to the ICU, she wasn’t considered an ICU patient. The nurses on the general pediatric floor, 7-3, couldn’t handle the constant suctioning she needed.
That move to the ICU wound up being her last real move, even though she switched rooms a few times. This time around, Ava was diagnosed with Langerhans Cell Histiocytosis, a rare blood disease. It could have explained her fevers. We were also told that Ava essentially had no chance of recovery based on the scarring in her lungs. Her only chance of a recovery would be to trach her.
We were given our options. We could trach her, which would give her the only chance she had, or we could go with comfort care, essentially treating her as a hospice patient. After a few days of debating, we decided we wanted to go with the trach. Ava was too young and too much of a fighter to just let her go.
We went back and forth with Ava for a week. We met with the ICU docs who said they would likely do it the week of Christmas, if there was an open operating room. Ava must have had other plans. On Dec 22nd, we came in to visit her and Keira, because it was Keira’s 1st birthday. Keira was doing fine, so after her little party we went to see Ava. She looked really well. She was sitting up in her chair, clutching her “boyfriend” Berry. We even signed consent forms for surgery, scheduled for Dec 24th.
That night, Ava’s nurse said she had a good night. But on the morning of Dec 23rd, Ava began to go down hill, rapidly. Her oxygen requirements went up to the point where they had to put her on a Bi-pap mask. I’m not sure what that means other than that it wasn’t good. The doctors told me the next step would be to put her on the breathing tube. This was at 9:30 am. They said they would call me if things changed. Well around 11:50, Beth called me and told me that Ava coded, and they put her on the breathing tube.
I got extremely nervous at this point. I went to Yale earlier than usual that day. I went in to see her first. She didn’t look all that bad. She was reacting to me and the nurses and doctors around her, but her heart rate was high (over 200 bpm). I had to leave because I had a meeting regarding Keira’s medicaid applications.
Seeing Ava that way made me very nervous. They hadn’t been able to get her heartrate below 200 all day, despite dopamine drips and other medications. I had a sickening feeling when I left that afternoon that we’d be back up there later. And sure enough, around 6:30, the phone rang. It was one of the ICU doctors at Yale, saying we needed to get back up to the ICU as soon as we can, that Ava had taken a turn for the worse.
We raced up to Yale. That 20 minute ride seemed to last about 2 hours. When we reached her room at 7pm, we took one look at her and knew our lives were about to change. Ava was puffy, her hands and feet were cold but she had a fever of 104. She was developing blisters on her feet from the fever. Beth and I took one good look at her and asked the doctor if he expected Ava to survive the night. He initially said no, but later said she probably could, but more than likely wouldn’t make it through the week.
We knew what we had to do. The hardest decision of our life was now in the fore-front, hitting us smack in the face like nothing ever has. We new we had to let our little Angel Ava go. We couldn’t see her suffer through another night. We couldn’t make her go through another long day of uncertainty. With family and friends surrounding us, we held our Angel as she passed away, two days before Christmas.
We had a rough holiday with Ava’s passing, made worse by the fact that we knew Keira was healthy, but still in the hospital. As we move into the future, we don’t want the same thing to happen with Keira. She should be home, NOW. She should have been home months ago, and we know that eventually, Keira will suffer the same fate as Ava.
For now, we can only hope and pray that there is a medical breakthrough, or some kind of clinical trial becomes available for Keira. We will live our lives like we lived the last 2 years. Our love for Keira and Ava will remains strong, and our dedication to make Keira’s remaining time with us as normal as possible will never change.
CureCMD on Twitter
