A roller coaster twists and turns and bends. It can take your breath away. So does Rett syndrome, in a whole other, non-exhilarating, way. Rett syndrome twists and turns and bends our children’s bodies, often taking their breath away.
Scoliosis (a sideways/lateral curve of the spine, causing a “c” or “s” shape in the back) and kyphosis (an outward bend in the spine, causing a hunch back) are two of the ways bones are affected by Rett syndrome. Sometimes our children have both. Katelin has kyphosis.
Scoliosis is the most common and the most dangerous of the two. In Rett syndrome, as well as other disorders like Cerebral Palsy and muscular dystrophy, the specific type of scoliosis that affects our children is called neuromuscular scoliosis, which causes a more rapid development. It’s very common to go from barely a curve to needing surgery in just a few checkups. With a lateral curve, the spine begins to impact organs. It presses on the lungs, causing decreased capacity and functionality; it is one of the main reason Rett children and adults get frequent bouts of pneumonia. Other organs are often affected as well, including the digestive system and the heart. Beyond the internal organs, scoliosis can affect the hips, making even sitting difficult, and cause numbness/pain due to damaged nerves. However it is pneumonia which strikes fear in the heart of a Rett parent; a common cold could mean death to someone with severe scoliosis; unable to work effectively, the lungs are susceptible to fluid build up and it often goes down hill very quickly.
Kyphosis is neither as common nor as dangerous as scoliosis. Impairment of internal organs is rare; the most common side effects with severe scoliosis are disfigurement and pain and perhaps balance issues. In some cases it may press on the abdomen causing a decrease in appetite. Katelin has a severe case of kyphosis; however, as of yet, she doesn’t seem to have any pain nor balance issues. Even so, there may come a time when it becomes serious enough to impact the lungs’ capacity and functionality. I do know that she would be about 6 inches taller if it were not for her kyphosis.
In cases of severe scoliosis and kyphosis, surgery to fuse the spine and insert rods is the eventual answer. I cannot speak for other parents. Many have gone through this experience and it’s gone smoothly, other times it hasn’t. But, for me, this is such a worry. Katelin has time, I know this, I’ve known it for years. Yet, how MUCH time seems to be the elusive answer. The variables to consider are overwhelming to me. One doctor told me to do it now because in 20 years when she really needs it may be too late for her to heal. Another doctor has said to me not to because she has compensated and the risks outweigh the benefit at this point and in 20 years Katie would be 44, I have to think by the time she really needs it, will she still be here?? Do I risk compromising her quality of life now? What if something happens? What if she is one of those that has a major complication and I’ve decreased the quality of her life unnecessarily?? In a way, I’m lucky because I CAN wait, for so many that is not an option.
The risks of scoliosis and kyphosis surgery are basically the same, but there’s nothing basic about them:
injury to your spinal cord or nerves
non-healing of the bony fusion
failure to improve
infection and/or bone graft site pain
Truth be known, it’s the top one that worries me the most. All I see in those words is “paralysis”, and that would kill me. While for other parents the chance of pneumonia is probably their top concern, and it’s much more likely than the risks above.
Unlike some of the other ways that the Rett body is bound by its brain, bone deformities cannot be fixed by a medication. No matter what treatment is around the corner, the damage done cannot be undone. I will eventually face this reality, like it or not. And I can tell you right now, I don’t!
I don’t know how the surgery for scoliosis is described, I can only tell you how Katelin’s ortho doc in Boston explained how Katie’s surgery would go. First, there would be weeks in a halo traction device. Basically, they would drill a halo into her skull and attach weights to it to stretch out her neck. Those who follow this blog regularly and know Katie pretty well, can you imagine Katie like that? I asked if they could put her in a medical coma for this part and they said “no”. I asked can you put ME in a coma for it?? They did chuckle at that, but I don’t know how either of us would bear it. And then there would be one surgery one day through the front of the neck (which I didn’t really understand) and then the next day they would place the rods. With fusion of the lower spine, she would lose some aspects of mobility, which would be expected. And then there would be weeks in the hospital and rehabilitation. I can’t imagine her going through this.
But, then there are a lot of things Rett syndrome has thrown at us that I could never have imagined having to go through, so many things to be aware of. Yeah, I pretty much hate having to be aware of Rett syndrome.