Life with Christian and Duplication 17p11.2

The news of expecting a child 19 years ago was a very exciting time for me, as it is with so many parents. My excitement centered around becoming a blessed mother and not so much on the sex or health of the baby. As with all parents, we hope and pray for a healthy baby, but it was not something I focused on. The joy of a baby in my life was the focus. When the day came to deliver this little angel, by induction, Christian began to show signs of fetal distress and I ultimately ended up with a c-section. When he entered into the world, he was not crying. He was breathing; color was good, but no noise. The nurses stimulated him to get him to cry. I look back at it now and he was probably so caught up in the view of the journey, crying was not something he felt he had to do at this time. This, however, does not go over well with the doctors. They like to hear noise, so stimulate they did and out came some crying sounds. He passed his first test with excellence!

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. You can reach us at 214-435-8288 or email Mapmancc@aol.com or Julie8788@aol.com