Life with Christian and Duplication 17p11.2
He continued to be a very quiet baby. He did not cry much. If he were hungry, I would have to listen for the smacking of his lips. When he woke up, he would just lie in his crib, or his bed (as a toddler), satisfied with just looking around and humming to himself until I would come and get him up. This does not sound like much of a problem, yet it actually posed a challenge. I would find myself constantly check on him to see if he was awake, ready to get up and eat. Due to his submucous cleft palate, where the roof of his mouth did not merge together under the skin, he was unable to breastfeed. He could drink out of a bottle, since this can be accomplished by just biting down on the nipple. He drank well, yet he still fell in the category of “borderline failure to thrive.” The doctors kept an eye on this, as well as the reflux that would cause the milk to come out his nose. Since he was drinking well, a G-tube was not something they would consider. Eating continued to be a problem due to a texture issue. He would eat some baby foods, however, he really enjoyed yogurt. He would eat soft foods, like mac-n-cheese, applesauce and yogurt, but french fries were out! He did not eat a hamburger or hotdog until he was ten. He now has an expanded food intake. It is no longer a problem.
Besides his submucous cleft palate, which was repaired when he was four years old, Christian was born with exotropia (the eyes wandered outward), which was surgically repaired when he was five years old. Muscle weakness and developmental delays with fine and gross motor skills, and lack of coordination continue to affect him. As a small child, he would twirl his hands and feet, an unusual sight, which caused me to talk with the pediatrician about. We watched for seizure activity, and did not find any, so it was brushed off to “babies do some odd things.” Therefore, as a mother, I kept an eye on it. At 3 years of age, I had him checked out by my Uncle, a Physical Medicine and Rehabilitation doctor, and his staff of PT’s, OT’s and developmental pediatricians. They first thought he had a sight problem, since he did not make eye contact. Maybe a hearing problem, since he was not turning his head in curiosity. Both checked out fine, in fact his hearing and vision were hypersensitive and was an issue in the sunlight and with loud noises. The delays in development were a great concern. One physician thought maybe it was Autism, but could not be sure. It was amazing to me that a child with delayed developments and motor skill issues was able to perform a very unusual act. When he was 6 months, he began to sit up. He would spread his legs into a wide “V”. Once he had his position, he would stare at a spot on the ground, lift both legs in the air, balance on his tailbone, and twirl his feet and hands. He would do this without falling over, as long as he had his eyes fixed on that spot on the floor. He continued this stemming activity until he was about 3 y/o and able to walk. He exchanged his acrobatic feat for rocking in a sitting position, and then pacing back and forth in a semi-skipping movement. This “stemming” activity continued through to his middle school years. As his attention and time was applied to other tasks, like the computer or schoolwork, the stemming became minimal. Now that Christian is of an age that he can explain to me all that was going on in his head, he tells me that stemming (rocking and pacing) was done because it made him feel good. He said he had a “radio” going on in his head, and he was listening to the music. This now makes sense, since he did not talk until he was three, and minimal coherent words at that, yet, he would make noises that sounded like humming. Speech therapy began at 15 months for him, and continued throughout his school years until he was in tenth grade.
The early years were spent watching, testing, reading, questioning, and wondering what was going on. I finally asked for genetic testing. As a pediatric and physical rehab nurse, I had access to the doctors’ medical books and knowledge. Therefore, as I read and picked at their brains, I requested the genetic testing to rule out fragile “X”. I was blessed to have been put in the hands of the Geneticist who was studying the opposite of the Duplication 17, Smith-Magenis- Syndrome, who thought to look closely at chromosome 17. He told me it was issues on this site were very rare and he could only find 4 others in the world with this found duplication p11.2. He told me that there wasn’t any information out there at this time but “hold on, someone will be studying this”. It took almost six years before Dr. Lupski entered our world. He was actually looking at a comparison of the two issues on 17. We came in for the weeklong study with a young man who had the deletion of what Christian had the duplication of. What a wonderful week. I was finally in a place with a family I could talk with and relate to. Up until that time, I felt I was out there in a world that no one else could relate to. I now find that I am still very much alone in a world that is focused around so many other special needs, but very welcomed by people who want to help and are interested in learning about Christian.
Christian is one who lives best with structure and routine. His teachers could always tell when he spent the weekend without routine. To this day, he gets up at the same time, and not a minute earlier, he eats at the same time and even showers in the evening at the same time. This has been wonderful for his work ethics, since he knows he has to be there at the same time and he has a routine he does. He works at the local minor league baseball field greeting the community and handing out the play ball information. He has worked at his school through high school. Since he is very big on rules, he managed to be the first to monitor the staff parking lot and obtaining 100% compliance from visitors and staff. Now this did not go over well with many of the rule bending staff, but the upper administration was very proud. Christian will struggle with college level classes, but he will do well in the workforce as an office aide, mailroom clerk, tour guide, and much more. I do not dare have him drive at this time, for the safety of himself and those around him. His reaction time is too slow, and he loves to study the roads and highway/street signs too much that he would not pay attention to the road. His brother thought he would take him for a driving lesson, and both survived the drive, but not enough to do every day. As for living on his own, this I believe he could do with some help. Grocery shopping, paying bills, getting to and from a job, microwaveable meals, and general safety checks would need to be in place to do this.
Maturity in age has caused changes in his disabilities in a positive way. Christian graduated this past May, at the age of 19. He repeated the tenth grade to help him catch up socially and academically. I chose to have him graduate and move on into the adult world because the school system was no longer working in his favor. Watching videos was not helping him in any fashion, and he was not getting any new stimulation. He graduated with his language skills at a tenth grade level, writing at a ninth grade level and math at a sixth grade level. Children like Christian tend to be very literal and math does not come very easy for him. His ability to follow simple directions is good, as long as they are to be performed at his pace, slow. I have always said that he slows me down to stop and smell the roses along the way, while everyone else is stomping on them as they go through this rat race of life.
When Christian came into my life, it was the beginning of a scary yet became a wonderful experience. As described in the famous writing “Welcome to Holland”, when we plan to go to Spain, we learn everything there is to know about the area, and the language. We do this only to find ourselves being welcomed to Holland. We did not plan to go there, have not studied the area and definitely do not know the language. This can throw us into a very stressful situation, if we allow it. We have the wonderful ability to make choices in life. With our children, we can choose to get upset, and focus on all the challenges, or look at it as a blessing that very few people get to have. I have often said that Christian makes me stop and smell the roses that I would have normally trampled on while racing through life. We are then able to look through the eyes of these children and see the life they live in. remember, the way they see life is the way they know it to be, it is us who think they should be living the life we see we have. Others tend to say “Oh, I am so sorry your child has special needs, but Wow, that is amazing what your child has been able to achieve.” The “Oh” is for that person, the “Wow” is for the child. Christian is amazing at what he is able to do. He has skills the “average” child is incapable of doing.
This difference in abilities will come with some challenges, some frustrations and yes, many tears. It will also come with joys, laughter and unique situations. Most of the struggles will come with the lack of understanding and discomforts of the disabled and special population by the community. As Christian will tell you, “I do not have special needs, and I am not disabled, I am just me…special!” As he told a group of 200 medical students and doctors, “having special needs is not like living in hell or anything!”
We are parents of a very special community. Our membership to this community is one that most did not ask to become part of, and may struggle with for years; however, all parents will find that it is full of extraordinary and loving parents of extremely happy children. Children who open our eyes to the way the world should be; no stress, no peer pressure, no teen pregnancy, no alcohol and drug abuse, no traffic tickets. We have been given the job of gardeners in God’s beautiful “Blue Rose Garden”. This is God’s very special garden that he watched over and smiles at their incredible beauty. We, as parents, are responsible for tending to these roses and bringing out their magnificence for all to admire. Tending to such delicate, yet extremely important, flowers is not an easy job. It can be a tireless job filled with great concerns, but it is the job we have been given. We have the ability; we just have to relearn how to grow a blue rose instead of a daisy.
Christian and I are very happy to talk with any parent that may have other questions or curiosities about life with Duplication 17p11.2.
Contact Info: Julie Smith Centeno and Christian Centeno
2305 Kittyhawk Dr.
Plano, Texas 75025
214-435-8288
Christian's blog: www.thechristianvillespirit.
I had a little interview session with my son with Potocki-Lupski Syndrome. When he was diagnosed at age 4 he had very little verbal skills. He hummed and was happy, but no words that made sense. With each year more words started to appear. It was not until he was a teenager that he could verbalize, in clear words, what had been going on in his mind. I learned a lot was going on in there. What a view through his eyes. He is now 23 y/o and how special he is. Patience, my friend, your child will speak, and what words of inspiration will flow. Here is the video:
A talk with Christian (Potocki-Lupski Syndrome) from Julie Smith-Centeno- Potocki-Lup on Vimeo.
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
I had a little interview session with my son with Potocki-Lupski Syndrome. When he was diagnosed at age 4 he had very little verbal skills. He hummed and was happy, but no words that made sense. With each year more words started to appear. It was not until he was a teenager that he could verbalize, in clear words, what had been going on in his mind. I learned a lot was going on in there. What a view through his eyes. He is now 23 y/o and how special he is. Patience, my friend, your child will speak, and what words of inspiration will flow. Here is the video:
A talk with Christian (Potocki-Lupski Syndrome) from Julie Smith-Centeno- Potocki-Lup on Vimeo.
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
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