Learning to Adjust the Sails by Mattie Book

Five years ago, I entered motherhood. I jumped in with thoughts, expectations, and plans for how my children would grow up. They would be bilingual, great at sports, top of their class and surrounded by a group of friends to grow up with. I was going to be the mom that never missed a game, booked yearly family vacations to show them the world and of course be there every step of the way. I had no idea that as I held my newborn that I was months away from the waves of a lifetime. I would be learning to sail.

A year later I began noticing my daughter having abnormal eye movements that the doctor referred to as Ocular Motor Apraxia. Some developmental delays were also noticed and the doctor ordered an MRI of Hannah’s brain. That same week we found out we were expecting baby number two. The MRI was performed and the doctor told us that we would need to follow up with a local neurologist.
We went in for the appointment and the neurologist told us our daughter had Macrocerebellum. Unfortunately, this neurologist was unfamiliar with this condition, however, stated that we needed to enjoy our time with our daughter because the only article she had read was of children who did not live past two. This was the first storm that came raging in and I was forced to use the wind to my advantage.

For about a week I was severely depressed. I couldn’t think straight about anything. I was up all hours of the night filled with fear that I would be burying my sweet Hannah as I welcomed our next child. How could this happen to our family? For some reason, I thought I would be above this, as if this was a story I would read about or pray for someone else about, but not experience first-hand.
The storm began to rage around me that week. I had no idea how to deal with a diagnosis that nobody knew anything about. My husband and I had been married for almost three years, yet we were miles away from each other. I was stuck in a place where I was obsessing over the future of what was to come and he was in a place of denial. I would start talking about the “what ifs” and he would tell me that none of this was true. He could not believe that a doctor could diagnose a condition that they knew nothing about.

I was pregnant, exhausted and full of fear when my mom walked through the door and gave me the advice I desperately needed. She told me to stop crying and start working. She told me that right now Hannah needed me to show up for her and use my fear to make things happen. She reminded me of my nursing degree, insurance and support systems. She then took Hannah home with her for the night and told me to start researching until I had a plan.

Little did I know that this would be the moment I would look back on as life-changing. This was the moment I learned to use my fear to drive me, not make me sink. I immediately began working. I spent the night desperate for information on Macrocerebellum. I couldn’t find anything. I then decided I would start calling hospitals. None of the hospitals I called thought they were “equipped.”
The next morning, I started searching again. After hours, I came across a study  written about children with this condition. I looked up the doctor who was a part of this study and found him listed at Johns Hopkins Hospital. His email was listed on the site, so I emailed him right away.
I wasn’t expecting a reply because it was a Sunday afternoon, but within ten minutes I received one. He said he needed a copy of her MRI overnighted to him and then he would call. Two days later he called me and told me that it was indeed Macrocerebellum and if we could travel to Johns Hopkins Hospital, in Baltimore, he would have a team of doctors ready to see us.

We traveled to Baltimore and the doctors were amazing. They filled me with hope as they all believed that Hannah was a special case and would be one of the first to live a long life. They also told me that Macrocerebellum was a secondary condition and was being caused by something else. After thorough assessments they informed me that my daughter was suffering from low muscle tone which was the reason walking and talking were hard for her. The doctors also told me that I did not need to worry about my second child because it was very unlikely they would have it also. They eased my fears of the future, and recommended physical, speech, and occupational therapies. Genetic testing was done and we left with hope that in a years’ time, we would be bringing Hannah back to her follow up appointment with new skills of walking and talking. The only thing at this point we needed to worry about was finding out the condition causing Hannah’s Macrocerebellum getting home safely.

Our second daughter was born that Fall. The day she was born we noticed her having some abnormal breathing patterns. She was taken to the NICU and spent a few days under strict observation with what the doctors believed was TTN (transient tachypnea of the newborn). After a few days the doctors believed she was safe to go home and we began life as a family of four. Hannah loved her sister (Elaina) from the first moment she met her. Everywhere I went with Elaina, Hannah would follow. When Elaina was six months and not sitting up, I started to wonder. When she was nine months and not sitting up, I began to worry. When she was a year old and not sitting up, I panicked. Our local pediatrician told me not to worry, and that second babies are sometimes lazier. I knew in my gut that something was very wrong, and begged for an MRI. The doctor agreed and within a week the MRI was scheduled and performed. The following week I received a phone call from the doctor’s office. The doctor stated that the results were in from the MRI and asked that my husband and I come in to the office. Within an hour, my husband and I were holding hands sitting across from a doctor who would soon turn our previous storm into a tsunami.

“Your daughter has Joubert Syndrome, and we believe Hannah may have this as well” are the words that echoed in my ears for hours. Another condition that I had never heard of that would soon impact us for the rest of our lives. Joubert Syndrome was described as a condition that causes a variety of developmental delays. It’s a syndrome that causes mental retardation, kidney disease, liver disease, and ocular motor apraxia. The doctor had then gone onto tell us that there was a doctor at Johns Hopkins who could help us. To our amazement it was the same doctor who managed Hannah’s Macrocerebellum. We were relieved to hear that we would be able to find comfort and answers from the same team of doctors we trusted at Johns Hopkins. I was torn between the fear of the future and the relief that I would have the team at Hopkins to lead us. I reached out to our doctor at Hopkins  on the way home, and we had both girls scheduled to see the team in the next two months. We pulled in the driveway, and were greeted by my parents. My mom gave me the advice I needed to get away. Although Joubert Syndrome was rare, the internet was packed with knowledge and I needed time to process. My mom stepped in, and we stepped out. This was the part of my journey that I learned that the best fuel for my family was taking care of myself.

My husband and I packed, and started driving south. We ended up in Destin, FL. It was beautiful. We made the decision to cry, scream, and throw our tantrums on this trip, but when we headed back we would be strong for our girls. This trip was so important to the days to come. We needed the time away to disconnect from the expectations we had in this life, and re-adjust our sails to the life we were given. Zachary and I reflected on the strength we had and tried to focus on the resources available to us, rather than the plans that were being taken away. After a week of processing the many fears of what was to come, we headed back home. As we pulled into the driveway I remember thinking that all we could do is try to enjoy the time until we saw our team in Baltimore.

When we got to Hopkins the team was very surprised that Elaina had a confirmed diagnosis of JS. They informed us that there were many different genes of this syndrome and we needed to find which one she possessed. Some genes are more prevalent with kidney disease and liver disease, however, both girls would need to be tested every 6-12 months. We watched our girls go through lab draws, and ultrasounds. We watched the genetics team look at every inch of their bodies and record every finding. They gave hope when they told us that Hannah was the mildest case they had ever seen, and although they would need confirmation with more genetic testing, they believed it was the primary condition causing the Macrocerebellum. Elaina was just over a year at the time and still unable to sit. They said that even with her delays, she was on the milder side. They believed the results would show that they shared a gene of JS that has not been seen. We left Hopkins with hope for the future and knew we were going to have to continue life one day at a time until we knew the gene our girls would have.

A few months later the testing came back that both girls indeed had a known gene of JS. The RPGRIP1L. A gene known for causing liver and kidney disease. I filled with fear again, although this fear was different. This was not a fear that could empower me, or a fear that I could take a break from. This fear was real and powerful. The thought of losing my girls, both of girls, was paralyzing. This is a wave that not even the best of sailors can conquer. For days, weeks, and months this fear knocked the wind out of me. I began obsessing over the scenario of losing them. How could I lose them? Once again, I was filled with the question of “why me?” I felt so alone. My mom told me she couldn’t help me this time, but maybe joining the Joubert Syndrome Parents site on Facebook would help. Little did she know that this would be the advice that would lead to me to surviving the wave that almost knocked me over.

Connecting with other parents living in my shoes was life changing. It was hard at first. I battled with joining initially for many reasons. I felt that I was meant to be a soccer mom, not a JS mom. Even after the entire journey I had been on, I still wasn’t ready to embrace it. I knew I needed help though and I decided it was worth a shot. I began reading posts and feeling connected to these parents. We did share similar fears; however, all of our kids were at different levels. I am afraid of the care that my girls will receive as adults. What if my girls are never able to live independently? I was amazed to see that these parents had the same questions. For the first time, I felt a part of something. We share stories of triumphs and heartbreak. When a child with JS passes away, my heart breaks in a way that I cannot explain. When our kids conquer milestones that most parents wouldn’t celebrate, we party! We see life through a different lens, but we all share the same prescription. Joubert Syndrome is two words that links us together into a family. Although I will never be able to be free from the fear of losing Hannah or Elaina, there is peace knowing that my JS family understands the fear and the journey. It wasn’t until I started connecting with these parents that I realized their support was what I needed to embrace this journey. They truly understand the fears that haunt me, and that makes this wave of fear survivable.

Now Hannah is five and Elaina is three. Both of my girls walk, and both are learning to talk. Their pace is different than others, and that’s okay. Although they never learned Spanish, they will be bilingual with Sign Language and English. They may never be the best at sports, but to be honest I am just happy to see them walk. They may not have a lot of friends growing up, but they have each other. I know that whether it’s on this Earth or in Heaven, the gene they share will always keep them close. Somehow this brings me peace. They share a syndrome that has brought both fear and strength into our lives. Fear of tomorrow, and the strength to get there. My girls may never be top of their class, but they will give other kids with JS hope. I may never get to take them around the world, but my girls will always know they are my world. My girls may never graduate college, but I am sure I will be crying the day they graduate kindergarten and high school as every day is a gift. In the end though, I can assure you that they have given me the best gift, and that was motherhood.

Parenthood comes in all shapes and sizes. For me, it comes in the shape of a sailboat. I am constantly learning how to adjust my sails to the winds that blow and the waves that come. Sailing isn’t something you learn overnight, it’s something that you learn over time. The best sailors have to experience waves to learn to steer through them. I have learned to appreciate the calm because I have survived the raging. I never imagined that my journey into motherhood would be so rewarding, and I never knew how honored I would be to sail as a Special Needs Mom.