Duplication 17p11.2 and Brain Development:
The day I gave birth to Christian was the day the sun was brighter, life took on a whole new meaning. As I looked into his precious face, I could not help but see an angel looking back at me. As I watched him sleep, I slipped back into remembering the actual delivery. Now the labor part I was good with, the C-section without medication (the epidural did not work, and I felt the whole thing) was not so exciting, but one area kept bothering me; the fact that Christian came into the world quietly. I remember the doctor calling out to see if he was breathing, and the nurse responding with a calm “yes”. It was as if he entered into the world with his mind and eyes focused on the trip he just took and where the heck did he end up at. Fast forward to the days of knowing something was different, and reviewing every medical book I could get my hands on, the pediatricians I worked for agreed to give him a referral to the geneticist.
I remember sitting in the office waiting for the test results. In walked Dr. Robert Stratton, the highly intelligent and very informative geneticist. This man sat down and proceeded to plant in my head, the words I will never forget. It has been 19 years and I remember them like it was yesterday. He told me that he found a duplication on chromosome number 17 at the p11.2 location. This was located on the upper part of the right arm of the chromosome. Stunned at the finding, the first words out of my mouth were, “how did you find that?” The next was “what does that mean?” So he explained to me how difficult it would be for another doctor to find this, since not much happens on 17p11.2 that would describe Christian. He happened to be studying the opposite, Smith Magenis Syndrome (SMS) and thought he would take a look. He said looking for this is like looking for a tree that fell in a forest. He told me that it will be easier to find these issues when technology gets better.
So, on to the next question, what does this mean? Since there are only 3 other reported cases in the world, we do not know much. “WHAT, only three others?” He told me that one was a 42 year old man in Canada, who did not speak or read and was institutionalized. Another was a 9 y/o boy, in South America, who was self abusive. The other was a young girl and did not know a lot about her. So, on to what does this mean for my son? Dr. Stratton proceeded to remind me that there was not a lot of information out there and that technology was not up to a place that can tell us more. What he told me next didn’t really make sense when he said it, but it really makes sense now. He explained to me one of the jobs this area on the chromosome is responsible for. He told me this duplication will affect the migration of the cells of the cortex. As a nurse I could understand exactly what he was saying, as for my family, I broke it down. When the brain develops in the embryo in the uterus, the over 250,000 neurons (cells that transmit information) are formed. The neurons move to protective coverings and extensions and they continue to grow until around 20-23 yrs. of age. The brain begins to grow (the neuron/cells migrate) from the front of the brain to the back and then back again. Back and forth it goes. Dr. Stratton explains that this duplication affects the migration of the cells of the cortex (the large part of the brain) and it will migrate (grow and mature) at different rates, so it will cause delays and then spurts of development, depending on what part is maturing and what area of the brain will it get to (i.e. The speech area, the toilet training area, the walking area, etc) It is unsure at what rate, when the changes will happen and how long this will go on. Here is where I was unable to relate it to Christian at the time. I knew that he was diagnosed with delayed development, was in speech therapy at age 15 months to jump start a bit of babbling, rocked back and forth, sat with his legs in a “V” off the ground while balancing on his tailbone, but did not walk until very late. I did not have anyone to compare him to so I could see at what age things would be happening. Other parents had a child development chart to follow, I had Christian to watch and make my own chart. I knew he would accomplish all his developmental tasks, I just didn’t know when. I can now look back and see how he did have rapid growth spurts and delays all throughout his young years. They leveled out at puberty.
So, my next question was, “is there anyone studying this?” “No” the good doctor told me. He once again informed me that I would have to wait until technology got better and then he was sure someone would. This began the 6 years of calling in and waiting. I had the pleasure of meeting Dr. Jim Lupski (Dr. Lori Potocki was at home on maternity leave for her first child), who explained to me that this duplication is responsible for many more issues, which he needed to know more about, thus the reason for our meeting, as Christian was about to be the first child to go through the protocol to compare him to those with SMS, and learn a bit about this duplication.
So here is my thought; if this duplication affects the way the brain develops, then it explains why these kids have delays and followed by times of rapid growth, followed by delays. A child cannot perform physical activities (walk, talk, potty train, and feed self) and have cognitive abilities (which can be very advanced, even though they are not talking) until the brain has matured to that area of the brain that is responsible for that activity. It is a matter of waiting until this process is done to have an outcome.
Another issue I questioned was the connections in the brain. How were the “electrical” connections in there? I have spoken with people who will tell me that sometimes it seems as if they can hear the electrical “zaps” going on inside their head, and it is really irritating. They have to take a mild medication to stop it. I remember Christian getting an MRI when he was 2y/o and it showed “illuminations” on it. The doctor was not sure what they were and left it at that. Now I look back and wonder if it was like little “zaps” in his head, and maybe they were noisy, or the hypersensitive hearing, which distracted him. Maybe this is why some kids bang their heads, shake their heads or do other behaviors to try to quiet this? Hum…just a thought. Now, with medications, one doctor tried to get him on Ritalin, and this only caused him to become a zombie. Hyperactivity was never a problem, but focusing on a task was “a problem” according to the teachers. I later learned that he learned much better when he was able to rock and hum in class while he was learning. This did not go over well with the teachers, but I stuck to my guns and they learned to adjust. Christian learned better with some movement and poorly when he had to sit still. We had to modify the moving to a little rocking while in his chair, and hum quietly. When he did this, he was able to repeat details of all that was taught, and then some. Another thought, could these misfirings be the cause of the sleep apnea some kids have? The lack of concentration (ADD)? Again, just a thought.
I hope that this explanation of the brain helps shine some light on why your child is so unique. Their brains are busy growing, just at its own pace, but it is growing. Therapists could use this information as well. It could help them to understand your child better. Repetition, routine, and predictable outcomes is how they function best. Life will be easier if you can do this for them. These kids will show higher functions in areas that will stun their peers. They are unique, and in a good way!Julie Smith-Centeno (23 y/o Christian) Sept. 2010