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. |
About MeHello! My name is Erin. I am Abram's mom, a tireless advocate for UBE2A Deficiency Syndrome and a fierce proponent for medical cannabis. MOST POPULAR BlOG ENTRYJOIN US
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