There is hope!
Wednesday, September 18, 2013
Christian Meets Dr. Jen Arnold!
Thank you to Dr. Jen Arnold (From the T.V. show "The Little Couple"), for meeting with one of your biggest fans! Christian enjoyed the talk with you and was so thrilled that he was able to give you his book "The Christianville Spirit." We are excited you have helped us in getting PTLS awareness out in the world! 7/2011
Sight Reading is the way to go!
For all the little ones who have headed back to school, I hope the year has started well. Some of our kids are learning their colors, some are learning their letters, others are learning to read and write. Whatever they are learning, I hope they are learning in the manner that works for them. Please keep in mind, many learn to read best using sight words (flash cards, pointing to words while reading, etc), instead of sounding the word out (phonics). They are also often very literal with everything. As long as instructions are clear and simple (ex. go get your book vs. go over there and get your book and bring it here, then go sit down.) This is part of why they mimic so well. When we go about our daily activity, or kids are busy playing, our kids are busy observing them do these activities as they are, without all the flowery words we tend to add when giving instructions. Even though our kids are very intelligent, their minds are very busy so keep life simple! Have a wonderful school year everyone!
From Their View...
When I am having trouble with the computer, the television, figuring out the cellphone functions, needing directions ( am so directionally challenged), understanding where a city, state or country is (terrible in geography), understanding the stock market, trying to understand all the political issues going on, or just needing a "how was your day?" I can always depend on Christian to be the go to guy. Has he always been that way? Yes, just not in a verbal way. Can he write well? No, but he types well. Can he speak clearly? Not always, but he gets his wonderful thoughts out in his writings. Is he good in math? No, but he is amazing with maps. Can he think through how to move one object out of the way to get to the one behind it? Not always, but he can tell you where you live in this world, in detail, and how to get there. So, I do not focus on his inabilities, as I have many of my own. I get by in this world by focusing on my abilities and how I learn best, and I choose to do the same with him. In the words that Christian spoke, into the microphone he was handed, to a room filled with over 200 medical doctors and medical students, "having special needs is not like living in hell or anything!" They heard that one loud and clear!
Monday, September 6, 2010
Duplication 17p11.2 and Development of the Brain
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
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
Wednesday, September 1, 2010
Tuesday, August 17, 2010
Our beautiful kids
Recently, Christian and I took our summer trip to Atlanta to visit our family. It happened to be over the week of his 23rd birthday. That is hard to believe...23! Where did the time go? Well, we contacted the wonderful Pulley family, who live in the area, to see if we could meet up with them. Another fantastic family, the Penningtons, were invited to drive down to meet as well. this opened up a whole new twist. I was then contacted by other families who asked if they could crash the party. I was amazed at the comfort level that these awesome families had, feeling so at ease in even asking to "crash". As the excitement grew, so did the group. I was loving it, and Christian was beside himself. He gave up a 7 day cruise to meet these amazing families.
The party could not have gone any better. We all gathered together and blended together like a close knit family would. Since everyone was scattered all over the city, the night before we split into two groups and spent quality time together. Our group went to dinner and then walked over to the park to sit on the lawn with over 200 people to watch a Beatlemania concert and let the kids run free on the playground. Everyone was relaxed and loving life.
When we all met the next day, for our all day and night gathering, we all watched the children in amazement. They all got together as if they had known each other all their life. All were so calm and well behaved. No hyperactivity! No screaming! No running around! No chaos! They found things to do. What the younger kids found to do brought back such memories for me. Each one found repetitious things to do quietly throughout the day. One chose to move toys from one large bucket to another, another child chose to move the canned drinks from one ice chest to another, another child chose to move water from one bottle to another, and they all enjoyed lining up the cars on the floor. The trampoline was a hit, as was the tree house, in which one child chose to bring the pulley, with the basket attached, up and down. The trains going by hurt every one of their hypersensitive ears, yet if there was a wall to dull the noise, they were jumping with excitement. So, trains and cars are in for both the boys and the girls! Oh! I remember those days!
When all these kids came together, it was like looking at siblings. They have a look about them that is unique to PTLS and the CMT. The flat, wide bridge of the nose, the eyes, the slight "hook" of the nose (profile view), the long slender fingers, and the posturing of the hands. We discussed the dental issues, the high arch of the palate, the loss of teeth and the size of the baby teeth. The possible submucous cleft palate, which is what Christian had. This was repaired when he was 4 years old. I thought for the longest time that he was the only one, but I have learned that this is something that is being seen in the kids. The shortness of the palate at the back of the throat, which can cause speech issues with some sounds. Our doctors told us to NEVER remove Christian's Adenoids (which are often removed with the tonsils), since it will cause speech issues for life.
These kids give such love to everyone. They socialized very well with everyone. When they had a bit of a panic issue over a fear (like a bug), they were easily calmed by whoever was standing there. The mothers were able to leave their kids with the dads (some their own and others who belonged to other kids)to play while they went for a little shopping spree. Leaving the kids with "strangers" was something that was very freeing for every mom. No child cried for mom, no child was inconsolable at any time, and all had smiles on their faces. What joy! Life is good for these kids!
The parents not only saw, but felt the bond between us all, those who were there and those who could not attend.
This community of PTLS families is one to be proud to be a part of. Myself and a few other moms are already planning the next gathering, only this one will be an official one. I thought I had everything planned, name tags, photos before the event began, and an interview video (soon to be released), but I will tweak the things that need to be for the next gathering. Love to All! Julie
Video of the pics taken- http://www.vimeo.com/14200333
The party could not have gone any better. We all gathered together and blended together like a close knit family would. Since everyone was scattered all over the city, the night before we split into two groups and spent quality time together. Our group went to dinner and then walked over to the park to sit on the lawn with over 200 people to watch a Beatlemania concert and let the kids run free on the playground. Everyone was relaxed and loving life.
When we all met the next day, for our all day and night gathering, we all watched the children in amazement. They all got together as if they had known each other all their life. All were so calm and well behaved. No hyperactivity! No screaming! No running around! No chaos! They found things to do. What the younger kids found to do brought back such memories for me. Each one found repetitious things to do quietly throughout the day. One chose to move toys from one large bucket to another, another child chose to move the canned drinks from one ice chest to another, another child chose to move water from one bottle to another, and they all enjoyed lining up the cars on the floor. The trampoline was a hit, as was the tree house, in which one child chose to bring the pulley, with the basket attached, up and down. The trains going by hurt every one of their hypersensitive ears, yet if there was a wall to dull the noise, they were jumping with excitement. So, trains and cars are in for both the boys and the girls! Oh! I remember those days!
When all these kids came together, it was like looking at siblings. They have a look about them that is unique to PTLS and the CMT. The flat, wide bridge of the nose, the eyes, the slight "hook" of the nose (profile view), the long slender fingers, and the posturing of the hands. We discussed the dental issues, the high arch of the palate, the loss of teeth and the size of the baby teeth. The possible submucous cleft palate, which is what Christian had. This was repaired when he was 4 years old. I thought for the longest time that he was the only one, but I have learned that this is something that is being seen in the kids. The shortness of the palate at the back of the throat, which can cause speech issues with some sounds. Our doctors told us to NEVER remove Christian's Adenoids (which are often removed with the tonsils), since it will cause speech issues for life.
These kids give such love to everyone. They socialized very well with everyone. When they had a bit of a panic issue over a fear (like a bug), they were easily calmed by whoever was standing there. The mothers were able to leave their kids with the dads (some their own and others who belonged to other kids)to play while they went for a little shopping spree. Leaving the kids with "strangers" was something that was very freeing for every mom. No child cried for mom, no child was inconsolable at any time, and all had smiles on their faces. What joy! Life is good for these kids!
The parents not only saw, but felt the bond between us all, those who were there and those who could not attend.
This community of PTLS families is one to be proud to be a part of. Myself and a few other moms are already planning the next gathering, only this one will be an official one. I thought I had everything planned, name tags, photos before the event began, and an interview video (soon to be released), but I will tweak the things that need to be for the next gathering. Love to All! Julie
Video of the pics taken- http://www.vimeo.com/14200333
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