I’m sorry to tell you, your daughter has a terminal illness..
Children are miracles. Children are a reason to live. Children are the future. Children sometimes have to endure things no child should. And our sweet Alana was one of them. She was robbed of everything she was supposed to experience. We were robbed. But that didn’t stop her from smiling. We are so proud to have been chosen to be her parents. This is an emotional look at the feelings we felt when we found out our child was going to die.
Alana’s fight began at eight months old when some very scary symptoms started. Floppiness, refusing to eat, constipation, and more. So we took her to her pediatrician and she was under the impression that Alana was tired from being sick, she had a cold, and to bring her back if the symptom worsened or if she developed a fever. By the time Kyle tried dropping her off at daycare that day but realized how floppy she was. We were petrified, we knew it wasn’t a common cold or exhaustion, our parental instincts told us something was wrong.
We rushed her to Beebe Hospital in Lewes, our hearts were pounding, our minds were racing. What was wrong with our sweet baby. When the doctor came in to see her, he seemed concerned but tried to hide it. Getting an IV in Alana was first on the list. This was when our torture started. They couldn’t get one in. Time after time, poor Alana was screaming at the top of her lungs. She was using all of her energy to fight and resist. Her veins kept “blowing” from the dehydration, she was getting poked everywhere, eleven times to be exact. Kyle was able to stay with her and try to sooth her during this trauma, but I couldn’t. My heart hurt to see, hear and feel the amount of pain she was going through. It wasn’t fair and I couldn’t take it away. Finally, they got one in. The doctor came to us very sternly and said, we will be getting a CT scan and chest x-ray and A.I DuPont Hospital for Children is on the way down as we speak to come get her. You all need to go to A.I DuPont right away.. We will never forget that feeling. It was day one of our new life. It was day one of Alana’s fight for her life.
We were so upset, so worried, so unsure. Before we left they informed us that Alana had dense white areas in her brain, but they didn’t know what that meant. The paramedics and the doctor through skype was under the impression she had infant botulism, but told us that it’s treatable and we should expect a full recovery. But that’s just what they thought. We had no idea what was to come. And what the hell did the dense white matter mean?! Kyle and I are following this ambulance with our daughter and a full team of paramedics and it is pouring. Hard. We could hardly see the ambulance five feet in front of us, but in a way it made sense. But it was taking so long, minutes felt like hours. And how is she doing in there in this rain?
We get to A.I, and the IV fell out. So here we go again. Another five fails and a femoral stick, they finally got the blood sample and IV they needed. For the botulism test they needed stool, which was another problem, she was constipated. After 3 enemas, they got a small sample and sent it out. While we waited for the tests, we got the overnighted antibody from California. They weren’t to concerned about the CT scan at this point, as it was probably related to the botulism, she was going to have a full recovery, and life was going to be fine. We started speech, occupational and physical therapy everyday to promote her function. The doctors weren’t really seeing the progress they hoped, and ten days later, the botulism came back, negative. What is wrong with our baby? Should we not expect a full recovery?
The MRI was a bit more important at this time. It was rushed. But the worst part is they had to put her under anesthesia so she wouldn’t move, but they were so worried she wasn’t strong enough. And to do that, they needed another IV, which was nearly impossible at this point, they were running out of good veins. She was so bruised from all the sticks. Our poor baby. We were breaking down, the darkness was consuming us, and our backs were breaking from the small pull out couch. The late nights, the stress, the unknowns, the tears. It was catching up to us. Then the MRI results came back.
The doctor came in with the images and held them up. Her brain looked like it was glowing, bright white. He started to explain how the brightness and how that means the white matter in her brain is deteriorating, and how the dark spot was dead brain tissue. WHAT?! What does that mean for Alana?! Our hearts stopped. He continued to explain how advanced it is, and at this rate we don’t know how long she has left until we figure out why. Oh my God. Why us, and why is this happening to our once perfect, ‘healthy’ baby. So to find out why, we all got our blood drawn to be sent out for a full series exome sequencing test to find out all about our genes. The geneticist rushed the test from 12 weeks to 3. We spent that time trying to manage her symptoms, learning endless information, trying to make her smile through our tears, and trying to love her as much as we can because we didn’t know if we would still have her tomorrow. Our poor baby. Therapies turned into exhaustion for Alana. We held on to speech therapy because she was having a hard time taking in food or formula because her swallow was getting weaker. We didn’t want to believe it, we wanted her to take a bottle. The swallow study showed that she should have a gtube placement to minimize the risk of aspiration. Life in the hospital was wearing down on us. The longer we stayed, the longer we went without working. But with all the unknowns, collections could take everything from us for all we cared, we weren’t leaving her side. We are so thankful for the community that carried us through that time. Kyle’s mom was the biggest help though, she would allow us to go get some food and step out to regroup at times without leaving Alana alone, she was never alone. But sadly, some babies were.
Three weeks later, the tests come back, and there is a conference with all of the staff on her team. So we are all sitting there, and Dr. Cellucci, her primary care physician, and he says, “I’m sorry to tell you, your daughter has a terminal illness..”. We were silent for a minute in complete shock and disbelief. I honestly can’t remember much from what was said, but in complete heartbreak, the only positive thought I could come up with was, “At least she won’t suffer for long.” We had thought we were shattered and heartbroken already.. ha. We learned that her disease doesn’t have a name, they don’t know what to expect, but that it was closely related to Variant Non-ketotic Hyperglycinemia. Come to find out, our genes mixed together have never been reported. The odds of her condition were almost impossible. We could only think, why us, why Alana.
Life. What was it anymore? What will it be like? How can we even live? How can we do this? So much uncertainty, sadness, disbelief. We had a really hard time smiling and enjoying time with her. We would hold her and cry, look at her and cry, and she would reciprocate the same feeling and cry. We knew we had to fake it so she could smile with us. We had to learn to enjoy having her instead of missing her already. That was very hard to do, but it was so much better when we did.
In the days coming, we focused of palliative care and getting her home. which was a lot of work. After 46 days, we were finally sent home to care for Alana. We wanted to be as comfortable as possible, and we definitely wanted to take her to the beach. Our child was going to die. We had to find out how to live with no regrets. We had to fight harder than we ever imagined. And we had to pull strength from the bottom of our being. And most importantly, we had to find God.