‘We believe she can’t see.’ I held her tight as she screamed. I’m not letting them take my baby alone.’: Baby diagnosed with ‘ultra rare’ Canavan Disease, ‘I WILL save my child’

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“On the morning of September 27, 2017, our lives changed forever. We became a mommy and daddy for the first time. Tobin came into this world excited and curious — so curious she didn’t even cry, which scared me because babies are supposed to cry when they take their first breath, right? I asked if everything was okay and the doctor handed her to me and said, ‘She’s perfect.’

Courtesy of Meagan Rockwell

She was 7 pounds, 9 ounces, and only 18 and a half inches long. She passed all her newborn tests with flying colors. She was perfect and healthy. We sat oohing and awing over her for hours until we decided it was time to name her. We didn’t discuss names much when I was pregnant because we both knew we had to meet her first. After 10 hours, she had her name: Tobin Grace.

We were so excited to bring her home to meet her fur brothers and sister. Her oldest brother, Cutler, instantly fell in love with her and became her guardian. Being home was amazing yet scary because she was so tiny. Tobin was a unicorn baby, as I liked to say. She never cried. We thought we’d hit the jackpot. For some reason, I knew deep in my gut something was wrong with her.

Courtesy of Meagan Rockwell

When Tobin was 3 weeks old, she was no longer a unicorn baby. It was like overnight she turned into a full-blown dragon baby and started screaming all day and all night. Most nights, I would lay next to her on the floor in her room, fading in and out of sleep as she screamed. I felt like I was failing her as a mother. I went down the checklist of what could be wrong and came up empty each time. I took her into her pediatrician and told her there was something seriously wrong with her. She said, ‘She has colic and acid reflux.’ We left with acid reflux medication, and I hope and prayed it would work. The medication did absolutely nothing and she continued to cry.

Courtesy of Meagan Rockwell

I took her back to her pediatrician because not only was she crying, but her eyes started to move in weird directions and shake back and forth when she would latch on to breastfeed, take her pacifier, and when she was tired. I voiced my concerns again. She told me her nervous system was still developing and she was okay. That didn’t sit well with me and a week later, I took her back because the abnormal eye movements were getting worse, not better. She did show some concerns it could possibly be nystagmus and referred us to ophthalmology.

Courtesy of Meagan Rockwell

A week later, we had her appointment with the ophthalmologist. She was sweet but didn’t talk much as she did her eye exam. She then politely excused herself and a couple of minutes later, she came in with another ophthalmologist. She did the same tests the first doctor did. They both looked at me and one said, ‘We believe she can’t see but her eyes are healthy. She needs to see a neurologist right away.’

Two weeks later, we headed to the University of Iowa Children’s Hospital to see a neurologist. I was nervous because a huge snowstorm was headed our way. I was hoping it was going to be a quick appointment so we wouldn’t have to drive home in a snowstorm. We had to check-in and answer all the first appointment questions before being taken back to the room. The neurologist walked in, asked a few questions, and then started to examine her by lifting up under her shoulders. Tobin’s head fell back and she didn’t bring it up, which she should have done at 3 months old. As a first time mom, that had never dawned on me that wasn’t normal. She told us she was concerned and was admitting us to the hospital to run tests. We waited until a room was ready and a nurse walked us up to the tenth floor. I remember looking out the window as it was blizzarding out, thankful we didn’t have to drive home in the snow.

Courtesy of Meagan Rockwell

Once we were in the room, it flooded with nurses and doctors. I held Tobin down for the first time as they tried getting an IV in. After an hour with no success, they called in the neonatal flight team and they got it first try. I was so thankful because I was about to throw in the towel. A little while later, the phlebotomist came in to collect blood that was one of many blood draws in our 3 days there. One of the blood samples ended up getting lost in transit to the lab and they had to redo that one. Tobin was not happy. Tobin’s arms and legs were more on the stiff side, which raised concerns for possible meningitis and they wanted to do a spinal tap. They gave me the option of letting them take her back or I could go with them. I wasn’t letting them take my small baby alone. I held her down once again while they poked the biggest needle I had ever seen into her back. I held her tight as she screamed and I whispered to her everything is going to be alright. Then the doctors decided to do an EEG to make sure her abnormal eye movements weren’t seizures. She was hooked up to what seemed like a million wires overnight.

Courtesy of Meagan Rockwell
Courtesy of Meagan Rockwell

The next morning was pretty uneventful. More blood was taken and an MRI was done. It was a Sunday morning so we had to follow two gentlemen to the old hospital to have her MRI done. I held her tight as they sedated her. Then they took her back and this time, I wasn’t able to be with her. We waited for what seemed like forever until they were done and took us back to her room. As we waited, as the results started coming in and all tests they had done were negative and or normal. Her MRI showed some concerns. We got lucky the tech noticed the littlest tiniest thing on her scan. They decided to take a urinalysis, which had to be sent to Mayo. We talked with the doctors and they had mentioned they felt it could possibly be a metabolic issue but they needed to wait for the urinalysis. They said all the tests that needed to be done had been done and we were okay to head home. When we got home, we dug deep into google searching different metabolic issues, some scary and some not too bad. We weren’t freaking out because she seemed healthy and the tests they ran looked good.

Courtesy of Meagan Rockwell

Two weeks later, we headed back to the hospital to meet with her neurologist. I was amped up we were going to get good news. We had had a great morning and I didn’t think anything was going to stop that. Her neurologist and a genetic counselor came into the room. I should’ve known it wasn’t good news because the genetic counselor had a box of tissues. They told us the results came back that the level of N-acetyl-L-aspartic acid was so high Mayo didn’t have a number on it. She’s missing an enzyme that breaks down this acid. Then I heard the words ‘Canavan Disease’ for the first time. That never came up in our google search. They told me the acid wasn’t being filtered out and was destroying the white matter of her brain. At that point, I still didn’t understand the severity until they told me she won’t walk or talk. We will be lucky if she sees her fifth birthday. This disease is fatal. It was 2018 and the medical field was amazing. I figured there was something we could do. I asked what the treatment plan was. That’s when it hit me. They said, ‘There’s no treatment or cure. Take her home and keep her comfortable.’ I couldn’t expect I was going to lose my baby in my lifetime.

Courtesy of Meagan Rockwell

Once again, when we got home, we dug right into google learning everything about Canavan Disease. It was devastating but I kept coming across the name Dr. Paola Leone. She has been a Canavan expert for over 25 years. I felt it deep in my heart she was our answer and I needed to get in contact with her. I found her email address and sent her an email asking what we could do and how we could save our baby. She replied and immediately became part of our family. We had come up with the hashtag #TobinsTime because we have no idea how much time we have with her. Dr. Leone said, ‘You have no idea. It really is Tobin’s time — her time for breakthrough gene therapy for Canavan disease.’

Courtesy of Meagan Rockwell

We were all excited we had a glimmer of hope and we were going to save our baby. Canavan disease is an ultra-rare, progressive, fatal genetic brain disease that is extremely underfunded. The researchers needed help getting their amazing research out of the lab and gaining FDA approval. We set a goal with nine other families from around the world to raise the money to save our children. Almost 3 years later, $6 million dollars has been raised and invested into Canavan disease. We are now impatiently awaiting FDA approval.

Courtesy of Meagan Rockwell

Tobin is absolutely amazing. Her smile brings so much happiness to anyone that meets her. Tobin will be 3 years old in September and for some reason, I am having the hardest time accepting that. When she turned one and two, I was excited for her birthday and to throw her a huge birthday party. I’m full of fear this year with her turning 3. It’s another year gone and we don’t know how long we have with her. With this disease, tomorrow isn’t promised. Tobin has never met any milestones. Although she is almost 3, she is developmentally that of a 3 or 4-month-old. She can’t hold her own head up or sit unassisted. I like to joke and say she’s my 33-pound newborn.

Courtesy of Meagan Rockwell
Courtesy of Meagan Rockwell

Raising rare isn’t easy. I have learned it’s a day-by-day kind of thing. We try not to think of the dreams we had for her when I was pregnant. All the little stories we would make up vanished when she was diagnosed. Thinking of what could have been is depressing and sad but I have learned to be excited about the smallest things she can do, from her amazing laugh to her downright sassiness. We have new hopes and dreams that one day, she will say ‘mommy’ and ‘daddy’ and reach out for a hug, saying, ‘I love you.’ Those may seem small and simple but our world will explode when that happens.

Courtesy of Meagan Rockwell

Tobin’s smiles and laughs keep me grounded and remind me daily I am meant to be her mommy, and a damn good mommy I am going to be. I will save my one and only child. You can mark my words on that!”

Courtesy of Meagan Rockwell

This story was submitted to Love What Matters by Meagan Rockwell from Cedar Rapids, Iowa. You can follow their journey on Instagram and Facebook. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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