Updated September 2018
CB, our beautiful and loving 7 1/2 year old son
CB is a caring, curious, empathetic, silly, and super social boy. He has never met a stranger and enjoys telling stories to anyone who will listen, regardless of their age. He has become quite the caretaker of little kids. He is careful with young children and plays gentle with them. If they are sad, he will ask them what is wrong and want to hug them to make them feel better. One of his younger cousins absolutely adores him and the relationship is mutual.
His speech and language skills continue to improve. We just decreased his private speech therapy to 1x a week and he continues to get 45 minutes a week at school broken up over a few days. Coincidentally, his speech therapists are still working on some of the same goals as 1 1/2 years ago. His speech therapists are working on the “l” sound, improving his ability to move his tongue independent of his jaw, expanding sentence complexity, story sequencing, how to tell a story, organizing his thoughts, improving his sucking reflex and a few other focuses. The good news is that there is definite progress. He speaks in longer sentences and can say any word of any length. He still will leave off small parts of the sentences like the verb or subject on occasion and start speaking in the middle of a thought. It can take him a while to get his thoughts out and may require him to repeat the thought 2-3 times to get the full thought out. On other occasions, his thoughts will flow without hesitation.
For the most part, CB is still the same kiddo. His interests are about the same – car magazines, lining up tons of cars, playing in the dirt, picking up berries, nuts, rocks or other treasures while playing outside and playing legos, dress up, imaginative games, and building with his younger brother. He has started coloring more and loves to color items in his car magazines.
Over the summer, we saw a jump in his handwriting skills. No question he still struggles, but he writes most uppercase letters and a larger number of lowercase letters independently. His teachers are continuing to help him with writing his numbers and increasing his independence. He still traces a lot of letters and numbers at school but some are written independently on a regular basis. There is progress though which is wonderful. He attended a handwriting camp for a few weeks and that gave his handwriting skills a jump.
CB definitely does much better over the breaks than he does at school. His impulsivity and behavior improve with the decreased demands and the increased amount of play, especially outside.
CB’s diet has remained the same, GFCFSF with limited sugars, msg, artificial colors, and preservatives. We tried adding cheese into his diet and saw no immediate effects. However, cheese seems to have a cumulative effect and causes a decrease in his ability to sense when he needs to use the restroom. This is the same effect other dairy products cause, except they cause the effect within 1-2 days. He can now have cheese 1-2x a week without effect. He can also eat butter and food with milk baked into it. Otherwise, no other dairy products. For soy, he can eat edamame/soybeans. He cannot eat anything with processed soy though as it causes his face to break out and his lips to swell. One thing to note is this past weekend, he had some fries fried in an oil that included a mix of canola, soy, and sunflower and we did not see a reaction – yay. We may start introducing some soy items and see if that sensitivity/allergy has improved. We have still not tested adding any gluten back in his diet. We have seen an improvement in his ability to have candy with artificial colors. He doesn’t eat candy often but we have seen several occasions where behavior did not change!
What we are working on:
- Asking and Not Taking: Incidents still happen where he does not want to share a toy or he is interested in another toy and will take the item out of the other person’s hands without asking.
- Express Feelings vs Act Physically: He also will lash out at his brother and sometimes others when he is upset about something not related to the impacted individual. He is upset and/or mad and is not sure how to handle that feeling. We are continuing to practice stating our feelings versus lashing out physically.
- Try vs I Can’t: CB will state “I can’t”, “I don’t know”, “No”, or state inappropriate words before trying things. We are working on an I CAN or I WILL TRY attitude.
- Expanding Cole’s Interests and Level of Play
One major change for us came in mid-January 2016, when we found out that CB has a genetic difference causing a loss-of-function of the SETBP1 gene. Not much is known about the function of the gene, but it is known that a change in this gene is pathogenic. Neither CB’s dad, HB, or I have the same genetic difference. This change is called de novo. So far, we know that speech, intellect, motor capabilities, attention, sensory, and often-times behavior are all impacted by this genetic difference.
Updated early January 2017
CB, our beautiful and loving almost 6 year old son
The biggest progress we have seen this year is through his speech which has grown leaps and bounds. His intensive speech therapy continued throughout the year where he received speech 4-5x a week. It has paid off and he speaks in full sentences most of the time and is intelligible 90% of the time, even with strangers. He will leave off small parts of the sentences like the verb or subject on occasion. We just dropped his speech down to 3x a week starting this past week. His speech therapists are working on the “l” sound, improving his ability to move his tongue independent of his jaw, correct pronoun usage, expanding sentence complexity, story sequencing, how to tell a story, improving his sucking reflex and a few other focuses.
For the most part, CB is still the same kiddo. His interests are still all the same, although you will find him playing legos with his little brother more often now. He delves into more imaginative play with a little more complex roles and scenarios these days, too.
While his speech has continued to grow, his handwriting skills have continued to fall further behind despite the focused attention in OT and within his preschool. His current school practices with him and he has shown minimal progress. We are adding another OT session to see if this helps. We are still trying to lock-down all the challenges that are preventing him from progressing faster.
For the last month or so, you would not know that behavior is something he struggles with on a regular basis. I think he has enjoyed the long break from school. Being physical with peers and teachers has diminished but is still present. A little bit of his impulsivity seems to be curbing.
CB’s diet has remained the same, GFCFSF with limited sugars, msg, artificial colors, and preservatives. We tried adding dairy earlier in the year and felt it did not help his system. We are continually testing and trying different things to see if we can get his gut in check and add in more food options.
He is fully potty-trained day and night. He decided he no longer wanted to wear diapers at night in early January of last year and within a couple of weeks, he was accident-free.
One major change for us came in mid-January 2016, when we found out that CB has a genetic difference causing a loss-of-function of the SETBP1 gene. Not much is known about the function of the gene, but it is known that a change in this gene is pathogenic. So far, we know that speech, intellect, motor capabilities, attention, sensory, and often-times behavior are all impacted by this genetic difference. It has been a challenging year with coping with this new information, researching tirelessly to find out what we can, and trying to figure out how we can best help CB reach his greatest potential.
Updated early January 2016.
CB, our beautiful and loving almost 5 year old son
He is our happy, silly little boy. He remains just as curious as before and can find humor in just about any situation. Making funny sounds, screaming, and saying words that he finds humorous entertains him to no end. Asking questions every few minutes (if not more often) is still one of his traits. If he is not playing with his cars, you can often find him playing outside either digging in the dirt or exploring our backyard. He loves water, whether it be swimming in it or splashing it in swim class, playing with it while washing hands, pouring it out of his drink, pouring it from one container to another, or just pouring it out of anything.
His speech has improved tremendously. He can express himself in complete, short sentences, although he will still resort to phrases a good bit of the time. His speech therapists are primarily working on articulation, vocabulary expansion, and usage, sentence length expansion, and focus. CB continues to spit or hit when he doesn’t want to do something. Fortunately, he uses his words more often though. A huge step has been to expand his automatic response of “No” to just about any question to include “Ok”, “Yes”, silence, and sometimes a longer reply. He was in the habit of responding No to anything asked of him. It was his default response. If you waited a few seconds, he would many times comply or say another response. I think changing this has helped him also change his viewpoint a little. CB has gone through a stuttering phase. This came about when he started speaking in longer phrases. His speech therapists mention that they think this is due his desire to say something before having it planned out how to say it. He still does it some and I just ask him to take a deep breathe or to slow down. This usually works and he can start getting his thoughts out.
Fine and gross motor tasks still remain a big challenge for CB. He is currently working on writing his letters in pre-k and has started the “Handwriting without Tears” curriculum at OT. It only takes up about 5-8 minutes of OT. Sitting still, holding the pencil correctly, understanding where to start writing, understanding where to hold his body and head in relation to the work he is doing, planning the next stroke, and understanding where he should put his visual focus adds up to a very challenging set of tasks for CB. The hope is that by practicing now he will be better prepared for kindergarten. CB’s strength has noticeably improved. This has enabled him to endure and enjoy activities in OT like swinging in prone position/superman pose while playing games for 8+ minutes. I haven’t seen this translate into longer endurance during activities like running around and chase or increase his running speed. CB is still the slowest runner of his peers. He can climb higher, jump 1-2 ft down to another surface, peddle a trike, and jump over a low object. He is starting to catch a ball a little better. His visual tracking is definitely improving. You will notice above that I mention him swinging. For the swings at the park, he will now tolerate sitting in the swing with a little movement for about 30 seconds – 2 minutes. He is still not comfortable with that specific movement.
Socially, he has always engaged others to play. I feel he has more tools in his toolbox now and can play a larger variety of games and engage longer with his peers. He enjoys a certain level of imaginative play. Two of his classmates have asked for play dates 🙂 and both of the play dates were successes!! CB has 2 other friends we have play dates with often. We even have 2 other play dates to schedule for a swim classmate and a friend he made at a social group meetup. Improving his speech will help tremendously in this arena. Plus, he learns so much from playing with his little brother, too.
Surprise, surprise…CB’s favorite interest is cars, trucks, and things with wheels. This is one determined and dedicated kiddo. He has remained loyal to his one true love. You can get him to do just about anything with the promise of playing with or sometimes getting cars.
CB is fully potty-trained during the day. It was last March or April when potty-training really took off. Accidents every week or so remained common until the later part of 2015. We have even gone on day long car rides without accidents. He still wears a diaper at night. He had his first accident-free night last night. Time will tell if that was a fluke or will become a more regular occurrence.
CB is not the perfect sleeper he used to be but he is still a really good sleeper. He comes into our room most nights to sleep with us and it may be anytime between midnight-early morning. We go through phases of convincing him to not come into our room till he sees daylight outside. As you can interpret, this only works for a little while. CB doesn’t usually take long to fall asleep. If he takes awhile, it is often due to his little brother, HB, who sleeps in the room with him.
CB is the poster child of a good eater. Except for soups and spicy foods, he eats most anything. This works out well as it gets HB to eat more, who is not a great eater. Also, since CB is still GFCFSF, he makes it easy on us to feed him. We have been giving CB some dairy periodically. So far, we haven’t noticed side effects so we will most likely add some to his diet on a regular basis. Looking through the blogs, I see that I stated this same thing back in May. Clearly, we have been reluctant to add it back in on any regular basis yet. At this point, we also limit sugars, dyes, preservatives, and MSG.
CB’s motor-planning issues remain and he still presents with the symptoms of global dyspraxia (includes speech dyspraxia (apraxia) and limb dyspraxia).
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This was written in early December 2014.
CB, our beautiful and loving almost 4 year old son
CB is a very curious kiddo. He asks questions all the time like “what is that?”, “what are you doing?” and “why?”. He enjoys collecting things including nuts and rocks during nature walks or visits to the park. He stops to observe trees, plants, leaves, other people, nuts, bugs, or just about anything else he encounters on his journey. He easily trips over things and stumbles over his own feet. He bumps into things and others. He enjoys meeting new people and is typically drawn to kids slightly younger. He plays the role of observer of other kids, but will occasionally play with other kids that like running around, rolling on the ground, making loud noises, and making silly sounds. CB is highly distracted by background sounds such as airplanes, cars, trains, a scream, leaves blowing, construction work, etc. He does not enjoy performing fine motor and gross motor tasks that he has not already shown great success with and may still be very reluctant to perform. He is an avoider and will go to great lengths to escape a task he is unsure he can successfully perform. He will try to draw the focus to something else, act like he does not hear the request, throw tantrums, or simply refuse. He is very friendly and social and greatly wants to fit in and make others laugh. He has never been scared of strangers or a shy kid. He loves playing with cars and trains, reading car magazines, playing chase or stop/go, acting like planes, pushing toys throughout the house, and making loud noises and silly sounds. He also has a healthy interest in learning his letters and numbers. He wants to be a good brother but definitely has some impulse control issues.
CB’s body used to have to always be in motion when he was a baby but that has settled down quite a bit. He still will typically have a body part moving most of the time though. Sitting still and focusing for more than a few minutes takes quite a bit of effort on his part. He lacks the planning and coordination to perform many basic motor skills. CB has to practice, practice, practice, and then practice some more to perform basic skills that others may just watch someone perform once and successfully repeat. We noticed early on that CB could not acquire the typical gross motor skills on his own. We physically had to put him in the desired position (i.e., crawl position), show him how to move, physically move his body, and work with him regularly to acquire the new skill. CB also took his own path on acquiring gross motor skills and sometimes jumped past the next skill he should learn and then acquire that missed skill later. We noticed most other babies/toddlers would practice repeatedly and determinedly a new skill they had just discovered. CB, on the other hand, would perform a new skill and then maybe not do it again for weeks or months. Once he started performing the new skill again, he would practice it at a much slower rate and would take a much longer time to be somewhat proficient in the new skill. In regards to developmental milestones, he was on the tail end of to just past the normal developmental range for each milestone.
CB has always disliked and even feared swings and being spun too fast in the air. He however has always enjoyed slides and playing on playscapes. CB has low muscle tone and lacks muscle strength and endurance. We have never had to worry about CB darting off quickly in public places. He has always been a slow mover and a meanderer. While other kids may jump and jump and jump on the trampoline or run around the house in circles 10 times, CB will jump a few times on the trampoline and maybe run round around the house twice. He has to be coaxed to exert more physical energy. He is not a dare devil and is reluctant to climb monkey bars or to climb things that do not have stairs or a ladder. CB takes longer than most to make decisions and to process information. He prefers to have a limited number of options or he feels overwhelmed. He is a good eater and has always eaten a variety of foods. He was a big overstuffer as a baby and would put his hand in his mouth after every bite to help him actually feel the food in his mouth. He did not start eating meat on a regular basis till around 3.5 years old. I think eating meat took too much effort for him before then. He also has always enjoyed spicy foods. Although, he is starting to discriminate between some spicy flavors and is determining that some are too spicy for him now. Getting CB to try new foods has never been a challenge due to the fact that CB would agree to eat something he didn’t want to eat to get more of something he did want to eat. CB can hit a t-ball ball with a bat if someone physically helps him to get in proper position. He can also jump with two feet vertically or into a pool. He does not jump with two feet from one hard surface to another hard surface at another level yet, but he is working on it. He has a hard time using both hands to perform a task, such has holding his paper in place with one hand while he colors with the other hand or using both hands to remove his socks. He is working on this skill often in PPCD (Public Preschool for Children with Disabilities) and with his OT. He primarily eats with his right hand but will change it up on occasion, and will typically use his left hand for other things like throwing a ball or coloring. CB can sometimes be calmed down by asking him to take deep, long breaths. Even if this doesn’t work, he will calm down typically within a few minutes. CB has always been a good sleeper.
CB has a neuro-motor speech disorder called Apraxia which causes him to have problems saying sounds, syllables, and words. He understands what you say, but has difficulty programming and planning the speech movements. CB’s short-term and long-term memory are improving. Within the last month, we have noticed that he can remember where he put something several hours earlier or potentially the day before. He sees a private ST 2x a week and a ST at PPCD for 2-3 sessions a week. CB is not yet potty-trained due to a lack of awareness of the sensation. We tried potty-training in August but backed off after 3 weeks. CB’s PPCD teacher just started him in underwear again on Friday to determine if he is ready to try potty-training again. CB wears glasses and has since his 2nd birthday. He needs vision correction for myopia and astigmatism. He also has slow visual tracking issues compared with other kids his age. It is quite evident that CB retains several primitive reflexes, and I feel this is holding back some of his progress. CB attends swim lessons once a week and karate once a week. We started CB on a GFCF diet as of last Wednesday due to a nutritional work-up we had performed a while back. He has been taking fish oil, probiotics, and a multi-vitamin regularly since March and fish oil periodically before then.