Lily Belle's Story

I keep staring at this blank screen trying to figure out where to start. And the answer is, from the beginning. Because really, things weren't right even from the very beginning. But, as you'll see, hindsight is always 20/20.

And, I know that people have questions. What is Septo-optic-dysplasia? How did LB get this? What's in store for her future? I'll try to answer the questions that I can...but even some of this I don't have answers to. Bear with me. This is a long story. Lily is now 14 months old and there was a lot leading up to finding her diagnosis.

My pregnancy was very normal. Even the waiting was normal. Lily was 9 days late and even then I had to be induced (which sucked, by the way) which ended up in a c-section. The full story is here. I was drugged up, feeling sick and anxious directly after the C-section and had to go straight to recovery for an hour so I wasn't able to see Lily. I do know that they told me she had problems breathing but they said that was totally normal for c-section babies. Something about not being squeezed out - yes, they actually said that! (The fact that they're not squeezed out, which squeezes out the fluid in their lungs, poses breathing problems because the fluid is still present.)

But, what they also told me was that during her check up, her blood glucose was very low. They blamed this on me having a long labor and possibly burning through her glucose reserve. We later learned that was not the case because I sent her to the nursery, as all mommy's told me to do so I could sleep and recover. I asked them to bring her to me to breastfeed when she was ready, whenever she was ready, and when they hadn't brought her back in 4+ hours I started to get worried. I asked a nurse to bring her to me and I noticed that something was wrong. She was so tired that she couldn't even stay awake long enough to latch and eat. When I said this to the nurse, she grabbed Lily and ran out of the room with her. I later learned she took Lily to the special care nursery (where she ended up staying for 3 days.) Her blood sugar continued to crash.

Now, I've said, hindsight is 20/20 and so looking back I think that they should've followed her blood glucose after being released but, we had more pressing issues than that. She was jaundiced. Which is very common. She was very close to being kept at the hospital but was right on the lower edge so that I could take her home. We monitored her jaundice, which involved going to the doctor every single day and sadly enough, heel pricks every. single. day. It was heart breaking. I was so tired. I was so scared. I was so confused!

Lily with the bili-blanket, around 10 days old

Her jaundice, even after having the bili-blanket at home for a week, lowered, but not by much. We had SO many blood tests. One blood tests showed low thyroid levels which is very dangerous, especially for developing babies. Hypothyroidism can cause slow mental development and lead to mental handicaps. Scary, right? But at that time we thought that she would be off this medication by age 3 and that this was just a precaution.

We thought things were stabilizing but blood tests proved otherwise. Liver enzymes were up, showing liver damage already. We had more tests done. Ultrasounds and a hida scan. So many blood tests. I should also point out that I was in complete and total denial. I knew that something wasn't right but I would not admit it. To me, my daughter was perfect. She still is. Nothing will change that. The fact that she was so underweight was because my sisters and I were small babies too. It didn't even hit me when multiple people asked me if she was a premie. 

Our poor pediatrician racked her brain. She was worried. But, She "let" us go on a beach vacation for the weekend as long as we stayed in a big city where there were adequate hospitals around just in case something were to happen. A couple of weeks later...something did happen.

During this time I was actually blogging so a lot of her story is already recorded in this blog but it's so spread out. I'll just do a condensed version of what happened. Lily, who was still exclusively breastfeeding at 4.5 months, failed to wake me up one night. I shot up out of bed aware that something was not right. Some say this was mother's intuition and I think I'll roll with that because it makes the whole situation seem easier to deal with.

I walked into Lily's room and noticed she was sleeping, or at least I thought so. Until I looked closer and saw that she was slowly shaking her head back and forth. My first sleep induced thought was that she was having a nightmare so I quietly spoke her name and touched her shoulder and nothing happened. So I said her name louder and finally picked her up. She was limp. She was unresponsive. I ran into our room, flipped the switch on, flooding the room with overhead light blinding Dennis. I laid Lily gently on the bed where she still was slowly shaking her head and ran to get my mom. Mom tried to get her to respond and when I looked into her eyes I saw that she was truly scared too. Dennis and I started throwing on clothes. I picked Lily back up and we rushed to Rex. We would've loved to have gone straight to Wake Med where they have a children's ER but we were so scared and shaking so bad that I don't think we could've survived the ride there. Lily was still unresponsive but not shaking her head anymore. The only thing she did was yawn every now and then which was scary in and of itself. I also noticed her eyes would not focus on anything. Rex was an awful choice. AWFUL. I won't go into too many details here but they made me fill out paperwork while I was holding my unresponsive infant in my arms. Ugh. Thinking about it now makes me want to strangle someone.

Anyway, long story short, I fed her right when we got there despite Dennis and I asking the nurses to check her blood sugar three times. They checked it after I fed her and it was still 63 which is super low especially after eating. Again, long story short, we were taken to Wake med via ambulance, stayed there for a day and got an EEG there and then we were transferred to UNC Children's hospital at 2am when a bed opened up. UNC Children's hospital was our saving grace.

A strong girl through it all

By this time Dennis and I were going on 48 hours of hardly any sleep. Our baby was acting more normal but her eyes were still unfocused since the "seizure" and we still had no answers. To make matters worse, people would come in and out of our room asking the same questions, making us go over every little details over and over again. It was tiring and scary and sad. We watched Lily get poked and prodded. We watched her have another EEG, Echo on her heart, a hundred or so blood tests including one from her head because her arm veins had bruised and collapsed from so many pokes, and finally an MRI where we got our answers.

I remember them coming in. The whole team. The team of pediatricians at UNC, the GI, the Neurologist, the Endocrinologist, the Geneticist, and all of the interns on our case. It was a full room. I didn't feel any premonition that things were forever going to change. I just stood beside Lily's hospital crib with one hand on her arm, casting glances over at her sleeping form hoping that another seizure wouldn't happen. They asked where Dad was and I said he had gone home to get some clothes and things and that he was expected back soon. Looking back, I am so mad that they did not wait for him. I needed him there when they spoke these words because it did not feel real to me. At this point I thought they were still guessing, throwing out ideas and hypotheses. (Days earlier they had pointed out every little flaw in our daughter from her pointed chin to her failure to thrive. Another thing to be mad about!)

They asked me to sit down. I refused. The geneticist said, "The MRI results are back and she has a congenital brain abnormality called septo-optic-dysplasia." She handed me a card with the term written on the back. The neurologist handed me print outs from websites about what SOD was about. I was shocked. My legs locked, or buckled or I swayed. I don't know, but I ended up in the chair with tears streaming down my face trying to take this all in. Dennis walked in and he must have felt the tension in the air. He stood on the other side of the crib and they started over, telling him what they had told me. I can't tell you how he felt or what he even looked liked because the whole time they talked I went from looking at my drug-induced sleeping daughter, to the faces of the doctors, to taking deep breaths trying not to fall apart infront of them.

They then preceded to go down the line and tell us, in details, and in each department what SOD meant for my sweet Lily Belle. I don't remember where they started. I just remember the terms they used, "mentally handicapped, blind, developmentally delayed, blind, hormones, medications, no pituitary gland, no midline membrane, blind." Blind. I shook my head. No, she can see. She looks at us. She tracks toys. But, the MRI showed the small optic nerves which meant that she could've been blind. But, she wasn't.

They threw information at us from left, right and outfield. They swamped us in it and it was all bad. It was all dark. It felt so hopeless. Later, they said that they wanted us to know the worst case scenario and then they wanted to "build us back up" but that we had to see the reality of what we were dealing. Again, later on, the main pediatrician expressed her apologies for doing this saying that it was even too much for her to take in. 

They all left us to "soak it all in and compile a list of questions." One doctor stayed and it took everything in me not to well at her to leave. Just leave us. Don't tell us anymore bad news. I don't know she stayed behind or who the hell she was. She said she wanted to explain more about the MRI and the diagnosis but at them time I had made my way across the room to Dennis and I sunk down beside him and the dam broke. 

This memory is so fresh in my mind. It's taking everything I can to not bawl right now while writing this. I keep sneaking peaks at my daughter playing, seeing, talking, laughing and remind myself that it's all okay.

But, that day, nothing was okay. Nothing was okay. And once that dam broke I fell apart and Dennis and I held each other and bawled and sobbed and rocked. My mom told the doctor, politely, to let us have some time and then she too left the room. By the time she came back she told us she'd sit with Lily, who was still sleeping off the MRI meds and for us to go get some fresh air so we could take this all in and talk it over. I was reluctant to leave. I hadn't left the hospital room since coming to UNC. I hadn't left her side even through all of the tests. I sat inside the freezing cold MRI room for 45 minutes while she got her MRI. I held her hand while she got her 2nd EEG. I was with her for every blood tests. But mom was right and I had to get out or I'd start breaking down walls.

Dennis and I talked outside in the courtyard. This courtyard was called the butterfly garden and even that got me teared up because Lily loves butterflies. I can't even tell you what we talked about. Everything? Sometimes nothing but silence engulfed us and even that felt dark and scary.

I remember the geneticist saying this could be genetic and so my worst fear was never being able to have another baby, which for any mother, shoots right into your heart or empty womb and just tears it all apart. And I remember Dennis saying he was happy with one baby, that we could be a family of three and I just burst into tears yelling, "I'm not!" And he said, okay, we'll adopt.

God, I  love him. I loved him so much at that moment. I was being so selfish thinking I would never be pregnant again instead of dwelling on Lily's problems but maybe that was a defense mechanism and it was easier to focus on my problems than hers. And here was my husband sitting beside me falling apart just like I was and reassuring me that we would make it work any way we could.

Needless to say, we talked and we cried and we held each other. We called our sisters and Den's mother and told them what we had found out. I had to ask my mom to call my dad. I was too close to the edge and so tired from the whole day. I'm so thankful she was able to do that for me.

Throughout the rest of the week there were more tests. Actual questions for the doctors from us instead of just tears. Our sadness turned into anger when most of the answers we got were "this is a spectrum disorder and we'll have to wait and see." "We don't know what she can see. She'll tell us as she gets older" "We won't know if her brain developmental will hinder her ability to walk, talk, or learn."

We. Don't. Know.

Plus there was more. Lily had an enlarged brain that had moved down into her the back of her skull that could require surgery but may not. It did require a CT Scan which I was on the fence about. CT scans have a lot of radiation and all I could think was, with our luck she'd get cancer in 5 years because of this. I was in a dark place, right? It was another, we don't know. Then there was the plastic surgeon that came in to see her "flat head" saying that may require surgery as well. Luckily, it seems like all of this worked itself out with time.

During the time in the hospital we started on hydrocortisone to replace her cortisol, and hgh shots to replace her growth hormone. We were already on levothyroxine to replace her thyroid hormones. All these hormones are because she has no pituitary gland. At the same time I was breastfeeding every two hours on the dot so as to keep her blood sugar up. I look back at these long sheets where we'd right down the time, which breast, how long she fed, and her blood sugar before she ate. Most of the numbers were in the 70's which isn't that great especially because she ate every. two. hours. It was tiring but I felt like breastfeeding was the one constant thing I could give my daughter and to be honest, it was therapeutic for me. It was my connection to her in all of this chaos going on around us. 

We were finally discharged after keeping her blood sugar in a safe range, and promising to stay on top of her medications and feeding every 2 hours. The doctors were confident in us as parents. I remember hearing them talk about us outside of our door saying that if they asked us to do something for Lily, we would do it in a heartbeat, no matter what, and that they weren't worried about her in our care, despite all the changes that would need to be made at home.

Obviously our story does not end there. But, it's where it started. It's what led us to the life we live today. It's why I have three alarms on my phone; why I can't leave my daughter for long periods of time; why I cry and get discouraged with more obstacles and why I celebrate every little thing she accomplishes. 

Sweetest, even with the wonky eye :)

Today Lily is learning to talk and walk. She has all of her hormones replaced which include hydrocortisone (cortisol), DDAVP (sodium), Levothyroxine (thyroid), and HGH (growth hormone.) Her eye sight seems to be on the very good in of the spectrum which we are very thankful for. She does have what we refer to as some "wonkiness" in her eyes every now and then especially when she's tired or has to see far away. She sees her ophthalmologist in May for her annual check up and we'll see then if we can do surgery to correct her wonk eye and maybe they'll be able to tell us how much she really can see. Right now it seems like she focuses out of one eye at a time instead of using both. We test her distance vision everyday, take her to GMP (Governor Morehead school for the Blind) whenever we can and we monitor her development as close as we can without trying to be overly paranoid! They concluded that her seizure was a result of her blood sugar crashing and there shouldn't be another occurrence of that since we are so vigilant with her eating and drinking throughout the day and night. She is at a higher risk of seizure activity so it is another thing we are constantly on guard against.
As for this occasion of SOD being genetic, it's highly unlikely. We did a lot of genetic testing and microarray of her DNA that showed no duplicates, deletions, or damaged genes. From what I understand SOD/ONH is just one of those things that happen. There's no cause, nothing the mother did wrong, nothing the baby did wrong. It just is. And sometimes that is the hardest to take in and understand. And sometimes I feel like I will spend my whole life asking, why? But then my Lily Belle smiles at me and I feel at peace and I think, there's no need to know why, not when this little girl has beaten the odds. She has survived and thrived and hops, skips and jumps over each obstacle in her way. 

We will always have obstacles and different sets of struggles but what I've learned is this:

1. Everyone has their struggles.

2. People are adaptable.

3. It's okay to cry, scream, be angry, and upset as long as it doesn't overtake your life.

4. Love never leaves but it changes and it will always come back and hit you when you least expect it, bigger and better than it was before.

5. Struggles and heartbreak make you a better, stronger person in every aspect of your life. 

14 months and the light of my life!