Mom on a Mission: Overcoming Struggles, Celebrating Milestones
“As parents of a child with a rare disease, we are her strongest advocates. We are often the ones to educate the doctors on her disorder, fight insurance companies to pay for therapies, and teach the world around us … how prevalent the rare disease community is as a whole.”
By Laura Buchanan
Three simple words changed our lives: “Molar Tooth Sign.”
Haley is our only child. She was born on Leap Day, unique from the very beginning, without complications. She was a happy and healthy baby. We had no reason to suspect she was anything but perfect. But as weeks turned into months, it became apparent that she was different than other babies. Haley was not doing the normal things that infants her age were doing. She wasn’t rolling over, couldn’t bounce up and down on my legs, and did not attempt to crawl. She also had some abnormal head movements and looked out of the corners of her eyes a lot. Our pediatrician assured us that she was fine and would catch up by the time she was 18 months old, that most first-time parents over analyze their baby’s behaviors and compare them too closely with their peers.
Shortly after her first Christmas, when she was 10 months old, she could not play with a “stand and cruise” toy she received as a present. She wanted to play with it so badly, but just could not do it. She could only sit there and look at it and cry helplessly. It was heartbreaking, and I had had enough. I took her to the pediatrician and insisted there was something wrong with her. To appease me, he reluctantly referred us to a physical therapist. The PT immediately recognized there was a problem with Haley. She was able to get the ball rolling with multiple therapists and specialists. I credit her with getting us started with finding the help and answers we needed.
The next few months were a whirlwind of doctor visits and therapy sessions. In the meantime, I feverishly scoured the Internet looking up Haley’s symptoms. I searched day and night for a possible diagnosis. In my research, I encountered many frightening diagnoses, but one disorder stuck with me and I filed it away in my subconscious, Joubert Syndrome, which is characterized by the “molar tooth sign” on MRI.
Haley had an MRI when she was 13 months old. I received a phone call the same day after her MRI for an appointment to meet with the doctor later that week. I knew then that we finally had an answer to all of our questions.
The neurologist sat down with us and started drawing a picture of a “normal” brain. Then he drew Haley’s brain. He was about to say “This is the molar tooth sign,” and I blurted out the phrase at the same time. He looked at me quizzically and asked if I had ever heard of it. He admitted he had not. I wondered how on earth a neurologist could not know about the neurological disorder my daughter had. This was his field of study after all! Little did I know, very few people have ever heard of Joubert Syndrome. Even some neurologists have never heard of it.
Joubert Syndrome most commonly affects a person’s gross and fine motor development, balance, coordination, eye movements, breathing patterns and speech, and also can affect the liver and kidneys. Involvement varies widely from very mild to severe. It is a recessive genetic disorder in which both parents carry the gene. Medical science offers no treatment or cure.
Haley is mildly affected. At 33 months old, she can walk about ten feet independently. She attends a “mainstream” preschool, loves to paint and draw, enjoys music and is a very happy child. She receives physical therapy twice a week, and occupational, speech, play, and visual therapy once a week. She continues to struggle with speech and some sensory issues.
Approximately 350 people in the US and 650 people worldwide are affected by Joubert Syndrome, which classifies it as a rare disease. When Haley was diagnosed, I became a M.O.M, a “mom on a mission”. As parents of a child with a rare disease, we are her strongest advocates. We are often the ones to educate the doctors on her disorder, fight insurance companies to pay for therapies, and teach the world around us what Joubert Syndrome is and how prevalent the rare disease community is as a whole. I do not hide Haley’s disorder, nor am I ashamed that she has special needs. I find it therapeutic to share our journey and our struggles with others and celebrate the smallest of milestones.
Laura, Will and Haley B.
We live in a small suburb outside of Charlotte, N.C. Will is a branch manager for a large swimming pool distribution company, and Laura is a home health nurse. We have been married for seven years. Haley is our first child, born in February 2008. We are actively involved in the Joubert Syndrome Foundation and started a fund raising campaign last year call “Jog for Joubert Syndrome.” (www.J4JS.blogspot.com)