The beginning.

I often find myself asking "what if" questions. What if Hadley had been a normal baby? What if she was more affected? Even more so often, I find myself asking ridiculous questions like "Is she not sleeping because she's a baby and babies don't sleep? Or is she not sleeping because she has JS?" For those of you who don't know, Joubert Syndrome is an extremely rare genetic disorder. It's characterized by the absence or underdevelopment  of the cerebellar vermis (the part that controls balance and coordination), and a malformation of the brain stem, which connects the brain and the spinal cord. Together, these cause the characteristic appearance of a molar tooth sign shown on an MRI. The signs and symptoms vary but commonly include hypotonia (weak muscle tone), abnormal breathing patterns, abnormal eye movements, ataxia (impaired coordination), distinctive facial features, and intellectual disability. Weak muscles? Check. Abnormal breathing patterns? Check. Abnormal eye movements? Check.

I had a normal pregnancy. Normal if you don't count the bajillion pounds I gained. 😭Eighty five pounds to be exact. Yes, you read that right. Eighty five extra pounds on four feet and eleven inches. Other than that, I was healthy. Around 20 weeks, Marlon and I got some surprising news. We were going to be parents to a beautiful baby GIRL! We were both so sure we were going to have a boy. I remember the shock and was overwhelmed with joy. I had always wanted a girl, but tried not to get my hopes up since all our kiddos in my family were boys. So little Hadley would be the second girl out of the exciting! The ultrasound technician was very quiet, and she looked puzzled. I knew in my gut that something wasn't right. Why wasn't she excited to share the news? I asked her if everything was okay, and all she could reply back was, "The doctor will be in in a moment to speak with you". Immediately my heart sank. Another miscarriage? But no, we saw her little heart beating and pumping, her blood flowing throughout her body. She quickly got up and left, still with that uncertain look on her face. We waited in silence for what seemed like an eternity. I saw fear in Marlon's eyes. That first miscarriage really tore him up. Our eyes locked for a second, and we both quickly darted our eyes away.

"See this area? Your baby is missing it." That's really all I heard. Within a blink of an eye, we were in his office. How did we even get here? What did he say the last 15 minutes? He's talking so fast. I looked over at Marlon and he was just nodding along. I heard snippets of the words "cerebellum, cyst, vermis". I suddenly snapped back to reality and took in what he was saying carefully. "Your baby has a fluid filled cyst in the back of her cerebellum," He threw around the idea that it could be a benign cyst. That's all I remember. I was in such shock that I just zoned out. Luckily Marlon was there, and he listened. He asked questions. He made sure he understood. "It'll be okay," he said.

And it was okay. At our 32 week scan, the cyst was no longer an issue. It had just gone away. Thank the Lord! Her vermis was a little underdeveloped, but it was there. The doctor was confident that things would be normal, but he recommended a brain ultrasound for her when she would be born. Fast forward to 35 weeks. One of my really good college friends was visiting and staying with us that weekend. Marlon was at work, and thankfully she was with me when I went into pre-term labor. Well, at the time I thought I had broken my hip. I remember laying on my bed and texting her "I think i broke my hip". She came into the room and helped me up and convinced me I needed to go to the hospital. Me, being stubborn as usual, refused. I just broke down and started bawling. I didn't have anything ready for her yet. She can't come now. We called Marlon and he came home within 5 minutes. Off to the hospital to give birth! baby. It was still too early, so the nurse gave me a shot to slow down labor. I was discharged about 10 hours later.

My OB induced me at 39 weeks. I was ready. I know you summer ladies agree! Being 39 weeks pregnant in Texas, in AUGUST..literally the worst. I was induced with pitocin at 8 AM Friday morning. Long story short, I just didn't dilate. 3 PM rolled around, and nothing. They finally decided to insert a balloon catheter to help things along. 8 PM..nothing. 10 PM..nothing. 3 AM..STILL NOTHING. The balloon catheter was removed, as it did absolutely nothing. More pitocin.  I remember pretty vividly waking up at 4AM with a sharp stabbing pain in my abdomen. I'd close my eyes, and there it would be again. And again. And again.  I let out a scream. Of course, Marlon slept through the whole thing. I was just immobile. Immobile and crying. My wonderful nruse finally came in and suggested an epidural. YES YES GIVE IT TO ME. I'm still amazed that Marlon slept through all of that. Oh my goodness. I was in another world. That epidural fucked me up. I still to this day, don't know why women say it's the best thing ever. I couldn't feel a thing. But that was the point, right? 2PM rolls around..I had officially been in labor for over 24 hours. And I was miserable. My OB came in to break my water..and she just stood there for a while. "How do you feel about a C-section?" Like, I SERIOUSLY THOUGHT YOU WOULD NEVER ASK!!!! YES.

Cold. Cold. Cold. I guess I fell asleep because I woke up looking at Marlon's face. My body was strapped down and Marlon kept asking me if I was okay.  I was shaking. Why was it so cold?? I felt my body tug to the left. I was tugged to the right. I felt Marlon's hands stroking my face. OUCH. I let out a yelp. "Did you feel that?" the nurse smiled sweetly at me. I nodded, and fell asleep. I awoke to more tugging. and then I heard it. The sweetest sound. Little Hadley Rey was here. Born at 5:55 PM, a whopping 8 lbs 8 oz, and 19.75 in long. I had never seen anything so perfect.

The rest of the stay at the hospital was a blur. I just remember the snuggles, the pain from my incision, and lots of staring at this beautiful baby girl. We were discharged the next evening and were so excited to bring Hadley home. Kevin, our dog,  took to her immediately. He was so curious, and just wanted to be by her. He licked her feet. She started hyperventilating. WHAT. THE. HECK. She was gasping for air. I woke Marlon up and we immediately rushed to the ER. "Is she allergic to dogs?" we asked. The doctor chuckled and explained that babies don't show allergies this early. He checked her out, and couldn't find a thing wrong with her. He explained that newborns just have irregular breathing, and that sometimes they breath rapidly. Periodic breathing is what he called it. Whew! What a relief. A week passed, and Hadley was doing great. She still had a few episodes of the periodic breathing, but it was nothing compared to that first night we had her home. Our pediatrician assured us that Hadley was as healthy as could be. She ordered us a brain ultrasound for Hadley, just as a precaution since she was aware of her previous concerns in utero.

We got her brain ultrasound at a month old. It revealed that she in fact, did still have a fluid filled cyst in her cerebellum. But we thought it went away? How is this happening? What does this mean? The words Dandy Walker variant and Dandy Walker malformation were thrown around. It was a possibility. But it was also a possibility that nothing was wrong. Me, being a mama bear, started researching Dandy Walker. Hydrocephalus. Developmental delays. Rapid head growth, Shunts. So many things to read about. When you're not sleeping, and constantly doing research on such a scary condition, you really start to go crazy. "Marlon, her head is growing. Marlon, we have to go see the neurosurgeon. She needs a shunt. Marlon, something is wrong. She has nystagmus. Dandy Walker kids have that." It consumed me. I couldn't enjoy my beautiful little girl because I was always in fear of something being wrong. It took a few ER visits and multiple visits to the neurosurgeon and neurologist before we got anywhere. Hadley was a colic baby. She cried all night, She cried all day. She never slept. I think there was one day where she was awake for ten hours, and sure enough, she cried the whole ten hours.Ten hours of trying to soothe a baby that cannot be soothed. I was convinced that she was so fussy because she was uncomfortable from her fuild filled cyst growing.

It took many visits to Urgent Care, to multiple ophthalmologists, and an MRI before we even got anywhere. One of our ophthalmologists prescribed Hadley some glasses, as her eyesight was poor. As soon as we put them on, she just froze. I had seen some videos on facebook of kids who put on glasses and could suddenly see. I held my breath. Nothing. She didn't look at me, she didn't smile. Nothing had changed. I was convinced that she just couldn't see. I thought maybe she needed some time to adjust. After all, she had only been in this scary new world for about four months. One day, we were just walking around the place and I stopped in the bathroom and showed her her own reflection. She stared at the mirror. Silent, but obviously focused on something. She cracked a little smile. Could it be? Can she see? Did she see? I stood there for a few more minutes, and there it was. Clear as day. A laugh. I was instantly relieved. We were getting somewhere. Life would be okay.

I'd have to say how incredibly blessed and lucky we are to have found our neuro-ophthalmologist. In my opinion, he is Hadley's best doctor. Don't get me wrong, our neurologist is great, but there is just something about Dr. Shah that stands out. We saw him when Hadley was a little over six months old, right after her MRI. We had no idea what to expect. I figured our visit would be like the previous two visits with the other ophthalmologists. Long, lots of tears and screams from baby girl, with no real answers. Thank God I was wrong. The appointment went so smoothly. Marlon and I witnessed, for the very first time, Hadley focusing on an object. They had this really cool black and white wheel with different patterns that spun forward and backward. We saw her eyes focus on it, and they even followed when it changed direction. "She can definitely see". He smiled. What a relief. "Have you heard of Joubert Syndrome? Her MRI shows a classic molar tooth sign associated with Joubert Syndrome". What can we do? "Start with therapy NOW," he urged. Sigh. Back to square one. Research.

Our appointment with our neurosurgeon the following week confirmed that she did not have Dandy Walker Syndrome. He referred us back over to neurology as there was nothing he could do for us. He shook our hands, wished us luck, and we parted ways. The neurologist ran through the basics with us. There was no prognosis he could give us..each and every kid with Joubert is different. The spectrum is so wide. Joubert is diagnosed clinically, and Hadley presented all the abormalities a child with Joubert did. Along with her MRI, the neurologist was 99.9% sure that she had Joubert. But then the question is, what kind of Joubert is it? What is the causal gene? Now that we know that it is in fact, Joubert Syndrome, where do we go from here? Marlon looked straight into my eyes, and smiled. "Prayers, lots of love, and therapy. That's all we can do. Pray for our angel, love her unconditionally, and get her into the best therapies." I knew in that moment, that our little family would be okay.

Stay tuned for our family's journey!


  1. beautifully written!

  2. I was avoiding reading this because I knew it would make me cry. And sure enough it did! As you know I cry all the time, especially when I read things like this. But man, oh man this really hit home with you being one of my oldest friends. So rest assured I cried extra hard...! The other day when you casually said something about Hadley having JS I went online and did some research about it. I didn't research it long because it was kind of scary. I just really wanted to give you a hug and I instantly sent some positive thoughts your way and lit a candle for you and your little family. You are by far one of the bravest moms I know, especially after sharing this. Thank you for letting us on the inside. Im always here to support you any way I can. I love you and baby doodle. I look forward to your next blog just please type with me in mind and try not to make me cry so much!


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