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Jan 13, 2016 Latest post:
Aug 8, 2018
Welcome to our CaringBridge site - we've created it to keep friends and family updated on Caleb's on-going struggles and compile all of our medical updates in one place.
Our sweet Caleb is currently facing an "undiagnosed degenerative condition of the central nervous system." Ugh. Here is our story.
After meeting all of his initial milestones, at age 2, we noticed that Caleb was falling more frequently than his peers. This led us to starting PT and our first consultation with a neurologist at 2.5. At this time, we believed that his unsteadiness was a result of loose ligaments and low muscle tone. We continued PT and various exercise classes to increase muscle tone over the next year, and got some SMOs to stabilize his ankles. After a little over a year of PT and essentially stability in his coordination and development (no real progress, but no real regression), we noticed some continued unsteadiness and more frequent falls by the end of 2014. Throughout the beginning of 2015, through the winter and spring, we saw significant regression in his gross motor skills. By his 4th birthday in the spring, he really could no longer walk unassisted. We were holding both hands while he was walking, had to assist him in climbing, and he began resorting to crawling at times to get around. At this time, we sought out additional opinions on his condition and symptoms.
During the 14-15 school year, while Caleb was in his 3-year old pre-school class, we also sought out services from our local school system. In the winter of 2015, the district performed a full developmental evaluation on Caleb. He failed the gross motor and fine motor evaluations and tested slightly below normal for speech; cognitively he tested within the normal range, but on the lower end. He qualified for PT, OT, and ST through the schools and began 1x/week therapy in his pre-school class in April. This was a blessing to give him some additional one-on-one time with therapists who could help him learn to access the environment and participate fully in the classroom setting.
Caleb has never been a big talker. He's always had his verbose big sister to look up to, who likes to do all of the talking all of the time. :) Throughout his early years, I had him screened and/or tested for speech therapy several times and he always tested just right in the bottom of the normal range for a boy his age. By age 4, he had slipped below normal and we started ST 2x/week during the summer of 2015. In addition, we began OT 1x/week outside of the classroom to work on enhancing his fine motor skills.
In March of 2015, we had an appointment with an orthopedist who believed his condition was neurological and recommended we try and get back in with our neurologist or get another opinion sooner. We ended up going to Duke to see a pediatric neurologist there - with a teaching hospital and the resources they have, this has been a great fit for us. Our first visit at Duke was in May of 2015. The neurologist was concerned and ordered a plethora of tests - we spent June performing a battery of diagnostic tests: blood work, urinalysis, eye exam, swallow study, brain MRI. In July, when we returned for our follow-up, all of the tests came back normal. Well, then.
We were able to rule out a lot of things, which was great, but the lack of any abnormalities in the test results left us with a diagnosis of symptoms: low muscle tone and ataxia (the incoordination of movement).
The next step was to see a geneticist as the neurologist believed the condition was genetic. At the end of August we got into a research study to perform whole exome sequencing to see if we can find a genetic cause for his condition. We will find out these results in August of 2016.
And now we wait.
We do what we can to foster his independence and make our life easier. We got a walker in August and a wheelchair in December. We installed rails on our toilets and moved his mattress to the floor. We are embracing our roles as special needs parents and joining an amazing community of others who find themselves in this role as well.
And in the meantime, our sweet boy continues to deteriorate. We continue with our therapies: PT and OT 1x/week at school and 1x/week after school, ST 2x/week at school and 1x/week after school, Horse Therapy once a week, swimming once a week. It's a full calendar, but we will do whatever we can to try and help him see some progress. Despite this, he continues to lose functionality. He can not stand for as long as he used to, he can not sit for extended periods of time, he needs assistance eating and going to the potty. It's become an arduous task to care for him.
But, our boy, oh our sweet boy, is just so precious. He is such a sweetheart. He gives the best hugs and snuggles. He is absolutely adorable when he smiles at you. He is easy-going and hard-working and laid-back and persistent. He is so resilient. He rarely gets frustrated. He is a pleasure to be around and brings joy to many. I do not mind one bit the extra time I spend with him these days. He makes me happy to do so.