Tag Archives: metabolic disorder

Case Study

Case during his ECG

Spreading the word on facebook and the blog leaves much to be desired, and yet here goes:

Yesterday we met with Dr. Sharon Cooper (http://bit.ly/aYEQAe), a Pediatric Development Specialist about Case’s delay in meeting his motor skill milestones.  As many of you know, Case was referred at his 4 month well-baby checkup to Early Intervention for his poor head control, developmental delay, and overall hypotonia (low muscle tone).  We have been meeting on a bi-weekly basis with the Early Intervention Program Manager, Kim Moser, part of the Pediatric Evaluation and Treatment Team at Womack (PETT) and have also been seeing a Physical Therapist (Michele Hurley of Move With Me Physical Therapy) on a weekly basis since late July. As many of you also know, we began our own versions of physical therapy with Case around 3 months when we (mostly me, the worry wart) initially thought something was up.

We had heard great things about Dr. Cooper prior to our appointment and were not disappointed.  Our appointment consisted of an in-depth q&a starting from my pregnancy until now where she typed up everything we said  (no pre-made forms here) and then took a long look at Case.  We, of course, came well-prepared with a typed list of concerns and questions that we shared with her just prior to the appointment.  She took the time to go through each of our questions, line by line.  The result?  She ordered an intense workup of diagnostic tests to eliminate any of the major concerns (neurological/metabolic disorders mostly).  After the appointment, Case and I headed down to Cardiology where Case received an ECG, then to the lab to draw blood for a comprehensive metabolic panel, high resolution chromosome analysis (one form of cytogenetic testing – that will take a month) and a basic CBC and Differential (complete blood count and white blood cell count).  She also ordered referrals to Audiology for a hearing test (hasn’t had one since birth) , Ophthalmology for a vision test (to assure that his optic discs are normal because of a little bit of delay in his visual tracking) and an MRI.  Finally, she got us an appointment at the Dermatology clinic at UNC Chapel Hill to get his eczema under control.

And now we wait…

In the meantime, I’m scheduling his MRI (for which he will need to be sedated – poor buddy), his hearing and vision tests, and the derm appointment and cracking the whip at home with round-the-clock PT (slave-driver is Brian’s new pet name for me…sweet, huh?).  We are grateful for all the prayers and warm wishes.  We definitely have a journey ahead of us.  Fortunately, we have a lot of motivation (duh!) and a ton of support.

Updates as we know more…

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