Karyotype: 46 XY, del 3q (23-25.31)
DOB: February 5, 1995
DOB: February 5, 1995
Cameron was born three weeks early weighing 6 lbs. and was 18 1/2″ long. Although his apgar scores were 8 and 9, he slept all the time and was not eating well. After 1 week he was hospitalized, he had lost 1 lb., and had severe jaundice. He also had sleep apnea and a bradycardia (his heart rate was 95-98 sometimes lower). It was determined he was getting enough oxygen but he could not regulate his body temperature well. He was under bili lights for his jaundice for 3 days and started formula which helped him gain weight. When we first took him home from the hospital, Cameron’s temperature was getting dangerously low. When I asked his doctor what I should do about it, he told me to sleep with Cameron skin to skin with a diaper on. Needless to say, I didn’t get a lot of sleep for about a straight month.
For several months he made a goat like sound when he was breathing or eating. We suspected something was wrong at around 3 months. His eye contact was poor, yet he seemed to hear everything we said and would even smile while not looking at us. He had other developmental delays but is was a little confusing because at 4 months he could support his body weight on his legs; at the time we didn’t realize the reason he could do this was due to hypertonia (tight muscles) in his legs. He has been constipated his entire life and this began as a baby. His weight and height when he was a baby were always in the negative percentiles. Head circumference remained at 50th percentile.
When Cameron was about 8 months, his new doctor agreed that something was not right. She sent us to Lucille Salter Packard Children’s Hosp., Stanford CA, to meet with many different specialists. He went through just about every test you can imagine. They were not looking for anything genetic at first due to his normal features. Finally a geneticist confirmed Cameron had an Interstitial Deletion of Chromosome 3, missing bands q23-25.31. There they also found he had a severe serum zinc deficiency and was on a zinc supplement for 2 1/2 years. This really increased his appetite. To our amazement his 4 year checkup showed he was in the 100th percentile for weight for his age. Other findings were he had dolichocephaly (long skull from front to back of head), long eye lashes (dad has slight dolichocephaly and long eye lashes, so the deletion may not be responsible), a ridged metopic suture, hypertonia in his legs and hypotonia (low muscle tone) in his facial area, arms and trunk. The low and high muscle tone has greatly improved as Cameron aged and it now nearly non-existent.
For several years Cameron had problems with vomiting (projectile as a baby), especially when he would eat due to sensory issues. Since he’s aged, this has improved greatly except when he has the flu or a bad virus, then it can be bad for several days. He does tend to get a cold and since he can’t clear his nasal passages well himself tends to vomit when he coughs sometimes. He started crawling at 12 months, but could not sit until about 14 months due to low muscle tone. He started walking at 20 months. Cameron also crossed his eyes more than normal and was wearing farsighted glasses at first in hopes of correcting the lazy eye. He also has a trident hairline in the front which makes it difficult to get a good haircut without having two bald spots on the sides.
At 1 1/2 years he had both umbilical and inguinal hernias repaired. They found that one testicle had never formed. At 2 1/2 years he had ear tubes put in his ears. Cameron has sensory integrative disorder dysfunction. He has problems with certain loud sounds, different tactile sensations, the way some foods look or feel, poor balance/coordination, speech delays and poor attention span. He craves sensory input and does many things throughout the day to get it. When younger he would spin on a sit-n-spin for long periods of time. He also still loves to swing on a swing set for long periods of time. He rode a bike with training wheels for many years but now has a 3 wheeled bike.
He also has a mild Dandy Walker variant, which we didn’t know about until he was about 7 years old. This would explain his two long ventricles in his skull. He did not have hydrocephalus which is common with Dandy Walker malformation and did not require continuing care for it. The Dandy Walker variant is more than likely responsible for Cameron’s balance issues, sensory issues and his handwriting difficulty. These things have greatly improved over the last bunch of years. He has some ADD type symptoms and we we tried the non-stimulant drug Strattera to see if it would help but it caused him to vomit. We also briefly tried Ritalin and several others and we found that they had an opposite effect on Cameron. They rendered him unable to sit still in class and he couldn’t sleep either. Thanks to an apraxia group I belonged to years ago, I learned the many benefits of giving Cameron ProEFA, which contains essential fatty acids. I’m fairly certain Cameron was able to start writing because of it and at times he’s stopped taking it, we actually saw a huge regression in his handwriting. He also seemed to have more of an awareness of his surroundings and is more likely to try new things. Although we are not giving it now, I’ve thought about starting it again.
By the time he was 8 ½ years, Cameron had two Strabismus surgeries and his eyes were no longer crossed. He has unusual eyesight in that one eye is nearsighted while the other is farsighted. He seems to do well without glasses at times but he has a tendency, when he’s tired, to start crossing them slightly so we get him to wear his glasses more when he does this. Since Cameron doesn’t speak and has sensory issues, we not only isolate the letters while testing his eyes but he uses signs to read the eye chart and I interpret for him to the doctor.
At 9 years we fought to get Cameron back in a hearing impaired school/class regardless of the fact that he is a hearing child. He spent two years in the hearing impaired school when he was 5 years since he was non-verbal yet they believed he should go to a regular classroom with other children who had mild learning disabilities. They tried to integrate a computer that would talk for him into this classroom, yet the teachers would not use the device in the classroom even though it was written in his IEP. We spent the entire school year of 2003-2004 battling over his inability to communicate with the teachers and their lack of any sign language ability (Cameron is primarily a signer). Even if they did use the computer we began to realize that using only a computer was not enough to communicate effectively. Cameron was completely isolated during subjects that you could not possibly integrate a computer into, such as, P.E., music, art, lunchtime, etc. We are very happy about his return as he had been very frustrated those two years and had cried and asked us (nearly every morning) to go back to the signing school. The second year in the non hearing impaired school had been a stressful year and we went to many IEP meetings and eventually had to get a lawyer involved in the process. They gave Cameron some compensatory time to teach him more sign language but it didn’t last very long since the hearing impaired school is a year-round school and started up a couple weeks after the regular school year ended. Since Cameron has been attending the HI school, his communication has blossomed and his attitude towards school has changed dramatically. He is very happy. On his first social studies test in the new school, he got a 90% and he didn’t even study. It was very difficult for Cameron to learn when he could not communicate with the teachers. He would answer questions correctly in class only to be told that he was wrong because his teacher did not know what he was signing. He is still receiving quite a bit of speech therapy through the school so we stopped private therapy a few years ago.
His sensory problems have lessened a lot over the years. He has apraxia and signs as if he is apraxic with a lack of sentence structure, yet he gets his point across real well requiring us to guess some of what he says. On occasion he will use sentences but mostly only when he is prompted to do so. He often uses a 3-4 word combination of signs, sometimes more. He has motor skills problems and this limits some of his signing but this has improved over the years. He has a slightly stiff gait when he runs but this has also improved. He took Tae Kwon Do for about two years and the studio gave him some one-on-one instruction with an adult student part of he time and it was great for his motor skills. He earned his black belt.
Cameron is a very social and lovable guy. He loves to be tickled, snuggle, and get massages. His energy level seems a little lower than normal and he is cautious about the things he does. He does not talk except for the words mama, dad, yes, and a few others. He makes a few vowel and consonant sounds especially when he’s trying to sign a letter that someone doesn’t know to help them. He has spoken several other words in the past and then never repeats them again. His receptive language seems age appropriate. He seems bright in some subjects like vocabulary, definitions of words and is highly intelligent with the things that he is very interested in, yet lags far behind in others like math. At 5 years old he knew about 120+ words in sign language and used them to get what he wanted and since he’s gone to a hearing impaired classroom, he knows enough to communicate very well using sign language. Earlier he had a communication board and pictures that he used along with signs but then graduated to a computer that talked for him. The hard thing we learned about using a computer was that he couldn’t carry it around all the time and it took a while to boot it. Since then, we have tried many other smaller devices since he needs to be able to communicate with those not fluent in sign language. The problem with those devices is that they lack spontaneous communication since everything must be preprogrammed in for him since his spelling hinders him somewhat. Cameron also prefers to use sign language. We have had pressure from the school system in the past to take away his main and preferred mode of communication since he is not deaf but have been fairly adamant on his need for it and have the law on our side according to the Virginia Department of Education (see the bottom of this page if you are interested in what the law says about an interpreter).
We will continue the usage of other devices so he is able to communicate with those who do not sign but believe signing is essential for his education, ability to communicate and general well being. Cameron sometimes drags people around to show them what he wants if they don’t understand him or can’t sign and will write notes to people as well.
He loves to watch certain videos on TV (over and over) and video games, Google things on his computer, and be read to. His favorite thing since he was about 2 has been a large plastic dinosaur that he takes everywhere. He loves books, especially train, and auto books and magazines; he can name just about any vehicle on the road and tell you what certain people drove many years ago. He’s very interested in garage doors and even helps me fix them sometimes. One day, when one of our remotes stopped working, I told him I needed to look for the manual online to fix it and he went and found the manual and showed me the exact page. He makes me laugh often. His memory is incredible. He is fascinated by roadways, bridges, tunnels, overpasses, etc. When younger, he had a gift certificate to pick any toy he wanted from Amazon.com and he picked a train magazine subscription. At first he was trying to check the mailbox every day to see when it would come; he was very excited when it actually came. He also likes books that have to do with the medical field, bugs, dinosaurs, ambulances, fire trucks, cars, home improvement projects, etc.
Cameron is now 18 and is in high school with his younger brother. He has been in a hearing impaired class from middle school through 9th grade and is now in an 11th grade special ed class with an interpreter. He is doing a work study class where they perform work skills in the school. He enjoys it and doesn’t want to miss school. He still loves to swing on the swing set, bike ride through the neighborhood with the whole family, play with chalk in the driveway, and play basketball. At 18 he has been diagnosed with Hyperthyroidism. He also loves roller coasters and always asks to play country music in the car.
We are so thankful to have such a great son. He seems to have a cute sense of humor and is well liked by everyone both in school and out.