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The One Year Appointment

7/13/2013

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Yesterday Tracy and I took Abram to his one-year appointment with his new Pediatrician. His exam was longer and more thorough than all of our previous pediatrician's exams altogether. In fact, if it weren't for us meeting his new Pediatrician via a life-changing happenstance of a walk-in clinic, our son would not be on the road to getting the help he needs as he was the man who referred us to a Neurologist the first time he laid eyes on Abram and asked immediately "what's wrong with his eyes" the moment he walked in the door. This was especially impressive considering Abram's old doctor never  noticed any of the issues that seemed to be quite obvious to everyone but him!

We didn't get any new mind-blowing crushing news yesterday so that was quite wonderful and our new Pediatrician is even referring us to Orthopedics to see if they can be of any assistance with Abram's Hypotonia issues. He seemed to think that the Neurologist could guide us on the Hypotonia but he had previously stated (as did the brain surgeon) that there was nothing in there to indicate that the brain was causing it, so I don't quite know where we go from here to figure out that part of the puzzle. I have since joined a Support Group for Parents of Kids with Hypotonia and the consensus seemed to be that most parents have no clue why their kids have it and a lot of them have put their kids through muscle biopsies, spinal taps and genetic testing. However, it seemed that regardless of the outcome that the answer was Therapy so I am hoping that Abram can work himself out of it to at least be able to walk before he turns two.

Abram was also just fitted for foot braces this week as well. We picked him out some super cute Dinosaur foot braces with black straps and he will get a sweet pair of New Balances as well so that's cool. He'll have to wear certain kinds of footwear to allow for the brace to fit into the shoes.

I'm a little nervous about forcing a kid with SPD issues to wear socks, foot braces and shoes all the time because as of right now, Abram can't even handle wearing socks! Hopefully we can work through it or he can get used to it, I hope?

So yes, that is where we are for now. Still waiting on Approval for our High Contrast MRI which will tell us if his cyst is benign or not. The Brain Surgeon we sought consult from stated that it was just a cyst and that he could tell from his scans but the local doctors feel confident that a second MRI will give us more answers so we are going to try to go ahead with that as long as Medicaid approve it before the dump us on August 1st!
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    About Me

    Erin is a green-haired, tattoo-covered mama powered by sarcasm, iced coffee, and the occasional emotional spiral.

    She’s raising an incredible son with a rare genetic condition, advocating with sharp knowledge and a softer heart — because both matter.

    She's trying not to lose her mind in a house that includes her husband, her son, her mother, a team of no less than five workers, and approximately 3,000 daily interruptions.

    She’s got a sixth sense for fake people, a deep love for horror movies, and a soft spot for anyone who’s ever felt like too much and not enough at the same time.

    Erin doesn’t pretend life is perfect. She shows up messy, honest, and real—whether she’s in advocacy mode, snack-fetching mode, or “why is everything a mess” mode.

    ​She’s built of grit, wit, compassion, and just enough rage to get things done.​


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  • Home
    • About Abe >
      • Abram’s Viral Photo: The Wizard of Awws (Baby Ming) | Abram Mayhem
  • Blog
  • In the News
  • UBE2A Deficiency Syndrome
    • UBE2A Publication List
    • Abram's UBE2A Symptoms and Diagnoses >
      • Abram’s Pineal Cyst Journey: Insights, Updates, and Long-Term Care >
        • MRI Imaging of Pineal Cysts in UBE2A Deficiency
    • Why Genetic Testing
  • Helpful Links
  • Abram's Art

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