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Immunoglobulin Deficiency?

9/8/2017

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This kid is tired from 5+ hours of appointments at Mayo today. So, I let him eat a peanut cluster.  ;)

We met with Mayo's best Immunologist and were taught what each of the different immunoglobulins do. ALL of Abe's are low but the good news is he is at least making them and they are not at zero, so that is a plus.  

They drew blood to re-run the immunoglobulin labs and he got a pneumonia shot that they are using to see if his body is retaining the information on how to fight viruses. As of right now - his body is not retaining any of the illnesses he has had in the past, which means he doesn't have the antibodies he needs to keep from getting sick. 

So, we do labs in 4 weeks to see if the pneumonia shot he got today is still present in his cells' memory. If it is, we are good. If it isn't, we have to start Immunoglobulin Therapy. 

I was impressed that the Doctor had done her research, had read all of the case studies on UBE2A and even gave me a copy if the Japanese study that just came out this year. She was impressed we have connected with THEE Rafaella Nascimento. 

Our other appointments were all mostly discussions on finally obtaining an official Autism diagnosis and our need for ABA therapy. 

Overall, slightly terrified at what it all means but beyond lucky to have caught it at all thanks to another UBE2A mama Tracey Stedman Harris, who continues to change lives and help the families who are navigating this rare diagnosis.  

Thanks everyone for your support.  
​
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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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