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Friday, July 23, 2010

A Diagnosis for Ben

This is going to be a long and difficult post. First, I want to reassure that Ben is a very smart little boy and his diagnosis is not relevant to his intelligence level. Ben's cognitive abilities are intact and in fact, they are somewhat advanced. Okay. And forgive me if this post ends up rambling.
I knew from the moment I first held Ben after he was born, he was going to be an exceptionally smart kid. He was so alert and he immediately nursed like a champ. As the weeks passed, Ben continued to be very aware of his surroundings. He also sat up early, crawled early, stood early, etc. He was very motoric from the very beginning. Ben also said his first couple of words around age 8-9 months and they were intentional, not just cooing. He was able to say and wave "bye" and he referred to me as "mama". But by Ben's first birthday, Ben was no longer saying words, or least what we could understand. So many people told me to not worry about that because he was so motoric early on, he was probably taking his time with the verbal development. At around 18 months, Ben was finally evaluated by the Early Intervention and he qualified for speech therapy without any problem. The evaluation indicated that Ben's receptive skills were high but his expressive skills were lacking. I knew Ben had no problem with receptive as he understood everything we said to him. He would follow 2-3 simple commands with no problem.
Ben has been receiving speech therapy for nearly a year. Occupational therapy started a few months due to the possibility of Ben also having some sensory processing issues. Ben's very high activity level pointed to that possibility.
After six months of speech therapy with very little progress with verbal output, the sessions were increased to twice per week. Even with the added sessions, Ben has still shown little improvement with his verbal skills and is still unintelligible. As Ben's mother, I can pretty much understand what Ben is telling me depending on the context. Ben does talk and he tries to form words but the words are unintelligible. Consonants are a real problem for Ben and he also uses a lot of glottal stops. Sometimes, Ben will say a word very clearly but then we won't hear that word again. With this, we knew Ben could talk but there was something preventing the connections between his brain and his oral-motor structures from relaying messages appropriately. In other words, it is a motor-planning problem. This has caused an enormous amount of frustration within the entire family. And Ben shows his frustration through pinching. He used to bite and at times would even break the skin when he bit his sister. I don't know which is worse, the pinching or the biting, as they both hurt. Thankfully, though, Jackie and I were Ben's only victims. I would have been even more mortified if Ben had attacked other kids or nursery workers.
After showing so little progress with his speech development, Ben was finally referred to a Developmental pediatrician. There is a long waiting list for an appointment but we finally got our appointment for this past Wednesday.
Ben and I arrived to his appointment this past Wednesday and I was immediately impressed with the way the staff put me at ease and seemed eager to help me find an answer to Ben's problems. The doctor, the speech pathologist, and a resident doctor gathered in the room with Ben and me. After a few preliminary questions, the speech pathologist started working with Ben while the doctor asked me lots of in depth questions. I was able to watch a little bit of the interaction between Ben and the therapist and I must say that I was VERY impressed with this therapist. She was able to solicit words and sounds from Ben that I and his other therapists have yet to obtain from him. I was blown away. But that doesn't mean that Ben will now just start spitting out the words. It only shows that the ability to form those sounds is there. It was also observed that if Ben found a sound to be too difficult, then Ben would turn his head, stick his lower lip out, and cross his arms. He would also shake his head at times.
Once the doctor finished all of her questions and the therapist finished her evaluation, the doctor went over some of the preliminary findings and explained that I and Ben's doctors will be getting a detailed report in a couple of weeks. The doctor was able to give me a couple of answers as to the cause of Ben's expressive delay.
Now with a diagnosis of Verbal Apraxia (, I have at least one answer for Ben's problems. Apraxia has nothing to do with a child's intelligence level. It is an oral-motor planning issue and even though there is a disconnection between that and the brain, it has nothing to do with being developmental delayed/disabled. So many people, including certain people in my family, have a tendency to link speech problems with being low intelligence. It's sad but true and I am here to set the record straight. It's just like my daughter who has cerebral palsy. There is an area in her brain that has been damaged due to injury but that does not mean that she has been cognitively affected. It's quite the contrary. Both of my kids are very smart and have been quick to learn new things. They just have special needs that require special services. My children are indeed special.
Now that we have an initial diagnosis, the next step is for Ben to undergo genetic testing for a specific chromosomal disorder. If Ben does test positive for this syndrome, DiGeorge syndrome (velo-cardio-facial syndrome), then he would have a partial deletion. I don't think Ben has this syndrome as he does not quite fit the criteria but there are a few concerns based on the genetic background of a few relatives on both sides of our families. And since I have no clue about my paternal heritage whatsoever (due to Mother refusing to divulge any of that information), there could be something that I may have inherited from that side that I am not aware of which I then passed down to my own kids. If Ben does test positive for the syndrome, then Tim and I will have to undergo the genetic/chromosome testing. A couple of the signs for the syndrome are apparent in my direct family although it may not necessarily be due to any particular syndrome. Those concerns are hearing loss (me and Jackie) and I've had a few doctors who suspected that I may have a submucous cleft palate. I do have a fistula on my palate, too. And Jackie has a sacral pit which is considered a cleft. As an infant, I had a heart murmur. Heart defects are inherent with the syndrome. So, now we're just waiting on Tricare approval for the initial testing on Ben. But, I really do not believe that Ben has the syndrome. Time will tell.
Needless to say, these past couple of days have been filled with searching the internet and asking myself what I did wrong to cause my child's problems. Did I feed Ben enough? Did I not work with him enough? Did the pneumonia he had at 8/9 months cause this? Did the x-ray cause this? I know these are stupid questions and the doctor reassured me that it was not my fault, but still as a mom, I can't help but wonder what went wrong and where or when? Even though my undergrad and some grad work was in the area of speech disorders, as Ben's mom, I still can't help but wonder if it was something that I did to cause Ben's problems.
I try to ignore those who say that Ben just isn't ready to talk or that he's just lazy or taking his time. Or that he's just fooling us. Or that I'll regret the day when he does start to talk because then I won't be able to shut him up. I am anxious to be able to understand what Ben is saying almost 100% of the time. Right now, that is a huge source of frustration. I know Ben is talking and he knows what he is saying but he is so unintelligible.
As a former student in the field of speech disorders, I am very much aware that with the diagnosis of Apraxia, we have a long and frustrating road ahead of us. Ben is so smart and because he is so smart, he gets extremely frustrated with us when we can't understand him. He does use some sign language and we are looking into an assistive communication device. I just hope that people will see Ben as he is: a very smart, lively, adventurous, loving little boy.

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