It has been a long, busy, exhausting 6 months filled with many meetings, appointments, new doctors, hospitalizations, new medications, new therapists, etc....not to mention way too many sleepless nights for sweet little Audra and ourselves. A few times we did actually think we were making progress towards helping her...but never more so than yesterday.
First, she had an appointment with her Immunologist for her regular 6 month check up related to her immunodeficiency. The last time we saw him was in January...right as this nightmare was beginning. And I remember mentioning at that visit the new, concerning symptoms and behaviors that Audra was just starting to have. At the time neither of us thought too much about it and agreed we'd just keep an eye on her for symptoms of a new infection, etc. that could be the cause. After all, she checked out just fine and didn't have any physical symptoms of an illness.
Shortly after that visit in January things really started spiraling out of control. Many of Audra's doctors started weighing in, tests were run, but no answers were found. In late March the revolving door of admissions and discharges from the hospital started.
At that point, after all the routine tests were unrevealing in figuring Audra out, most of the doctors chalked it up to behavioral issues...or Autism (which she didn't have the day before!) or progression of her newly identified {and very rare} genetic syndrome (something they had probably never even heard of before reading it in Audra's chart). Some even questioned if she was being mistreated or abused. Others suggested we find alternative living arrangements for her. Yes....it was that bad!
But my mama heart remained steadfast in my certainty that SOMETHING was WRONG with my sweet girl. Something was causing all of this, and that something was medical...infectious, inflammatory, autoimmune...I didn't know exactly what but I knew there had to be a trigger.
Sure, Audra had significant developmental issues before all this happened. But why would it all change so suddenly...
developmental regression
agitation/aggression
self-injurious behavior
loss of potty training
loss of verbal skills
facial twitching
periods of nearly no sleep in 24 hours
then
sleeping for nearly 48 hours straight
If any other typical 9 year old began behaving like this nearly overnight there would be major concern. It was so unfair to Audra to just blame it all on one of her other medical/developmental issues on her laundry list of diagnoses. And I refused to stop until she received a complete medical work up.
Then yesterday, 6 months into this journey, her immunologist said...
"Yes, it actually makes complete sense that Audra could have Autoimmune Encephalitis. AE is an auto-antibody mediated disease and 1 in 4 kids with CVID {the immunodeficiency Audra has} develops auto-antibody mediated disease."
My response: "Well, I don't think her Neurologist realizes that"
I told him about the quick but short lived improvement we saw with Audra after the 3 days of high dose steroids she received last month. He is concerned that giving additional steroids could be dangerous for Audra because of her CVID but then he said...
"Rituximab is one of the safest drugs to give kids with CVID"
My response: "Her neurologist definitely doesn't know that. She is worried that it's not safe for Audra because of her immunodeficiency."
He explained that Rituximab targets only the B-cells, where the auto-antibodies are, and destroys them....but leaves the remaining cells of the immune system untouched. And because Audra already gets weekly immunoglobulin replacement infusions for her CVID, she will be protected while her body produces new B-cells.
WHAT ?!?! How had we not figured this out before now.
Her Immunologist assured me that he would email her neurologist immediately with his thoughts.
And off we went to Audra's next appointment...with her Neurologist !!
I love Audra's neurologist. She is the only doctor so far that has really listened to me and entertained my thoughts/mother's gut feeling that there is a medical issue causing all of this. She admitted Audra to the hospital last month for the spinal tap and began treatment for Autoimmune Encephalitis. As soon as she came into the exam room yesterday for Audra's appointment she said...
"What did her immunologist tell you?"
I said..."everything he told you in the email he sent you"
And with that she said...
"Audra needs Rituximab asap"
"Maybe we will do a bridge of steroids until the Rituximab starts to work"
"There are other treatment options to consider as well"
A diagnosis??
A treatment plan??
A cure??
Oh sweet music to my ears...and heart!!
On the 4th of July we met up with my parents and my sister's family to watch fireworks.
What looks like a hint of a smile on Audra's face is actually just a split second of the right side of her mouth twitching. And what limited time she spends outside of the house these days is usually spent in our arms or in the wheelchair/medical stroller.
But now we know...
and now we have a reason to keep fighting.
I promise I won't stop until you are all better baby girl !!
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