Ben watering Grandma's flowers, 2005
“It’s like being the Tin Man”, I used to tell Lucy’s friends, or any child who asked why Ben was so stiff and why he had such a hard time walking. “His muscles are so tight that they are holding back his bones from growing. It’s like he has really strong rubber bands trying to stop his every move”. I’d then ask the kids if they could tighten up their arms and legs–just to feel, possibly, about 1/1000th of what Ben feels every moment of his day–and then try to move around, pick up things, bend down, sit down, do anything, when your body is that tight. I was always delighted when they would at least try to do such a thing.
The real word for explaining this tightness is myotonia, which affects every muscle in Ben’s body. The official information from the NIH on myotonia is:
Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.
It is this myotonia that caused the muscle fibers of Ben’s lenses to be dislocated, leading to a condition called ectopia lentis. And since ectopia lentis is a hallmark of Marfan syndrome, it was no wonder that this was one of the first genetic conditions that Ben was tested for. Removal of one of Ben’s lenses may have been the reason why he suffered a retinal detachment and secondary glaucoma as a result of the retinal surgery. But no one will ever know for sure. His disclocated lenses always put him at risk for both retinal detachment and glaucoma.
The myotonia also causes him to have severe obstructive sleep apnea, which led to his tracheostomy. The kyphosis and scoliosis of his spine are also due to this–and myotonia is of the reasons that people with SJS have skeletal dysplasia. We are not sure if Ben will ever reach four feet tall. For the first eight years of his life Ben suffered from reflux, but gradually overcame this. In the first two years of his life Ben had a patent ductus arteriosis (PDA), but at age two this closed by itself and surgery wasn’t needed. He has always had an enlarged aortic root–another symptom of Marfan syndrome as well–and this is monitored by yearly echocardiograms. Although this could result in serious issues, so far aortic surgery or beta blockers have not been warranted. When he was 18 months old, he had several inguinal hernias that needed to be surgically repaired.
About a month ago, I found myself telling the same story to Charlotte’s class at Sprague School, because her friends were all curious about 5th grader Ben, who they had seen perform in the band and the 5th grade chorus. They saw that he played the snare drum, brake drum and triangle with other able-bodied 4th and 5th graders, and they also saw him belt out songs standing in the front row of the chorus in his walker. They even saw him “dance” in place during The Snowflake song (our family’s definite favorite!).
But after that performance, so many children in Charlotte’s class asked questions, and she told me that she didn’t really know how to answer them. Her amazing teacher–who also taught Ben in 2nd grade–arranged for me to talk to the class about wheelchairs, trachs, and hold a Ben Q&A. It was a success.
A Sprague teaching assistant once gifted Ben with a perfect book by Robert Munsch, called “Zoom!” The story is about a girl who wants a better and faster wheelchair, and how her parents are unhappy with such a vehicle until she rescues her brother and zooms him to the hospital. All the children loved this book. We also used the trach doll that was given to Sherin and me while we were in tracheostomy care training after Ben’s surgery in 2006 at Children’s Hospital Boston. The children loved taking the real trach out of the pretend baby and putting it back in again, taking the trach ties (which are tied to the trach and are wrapped around the child’s neck to hold the trach in place) on and off. I remember that when Ben was in the ICU following his tracheostomy, eight-year-old Lucy spent hours with this doll, doing the same thing. It must be like a moving meditation.
The one message I wanted Charlotte’s classmates to hear, and which I also tell everyone who asks, is that Ben’s life is actually very normal, despite these physical and medical limitations. He goes to a regular school, and he learns the same things that everyone else in his regular classroom learns. He is diligent about his homework, if for no other reason so that he can play his Nintendo Wii or 3DS. He plays piano and drums and complains about practicing. He has had a chess club at our house for years with a dedicated group of friends. He rides horses for therapy every Saturday morning with BiNA Farm near our house. Ben does attend a lot of physical therapy and occupational therapy appointments, and he has Braille lessons once a week with a teacher from Perkins School for the Blind–because his vision is so fragile, blindness is a real risk for him. And he has multiple hospital appointments each month, either for follow-ups with specialists, lab tests, xrays or MRIs, or to have surgery.
Ben had his 23rd surgery in November 2011, when metal plates were screwed into the bones above and below each of his knees, in the hope that as he grows, these plates will help prevent his bones from growing inward (knockneed) and more straight. But as in everything we do for Ben, we never really know if it will work. We just pray for the best.
