And the diagnosis is...

Today Audra's Immunologist called with the results of the blood work she had done last week.  This blood work was needed to help the doctor determine which immunodeficiency Audra has.

Audra has CVID (common variable immune deficiency).

Her IgG and IgA levels are low.  This combined with what we learned last week...she cannot retain any of the antibodies that she receives from vaccines...confirmed the diagnosis.

Usually, our immune system uses the antibodies it acquires from vaccines and previous illnesses to protect us from illnesses in the future.  Audra's immune system doesn't have the antibodies it needs to protect her.

We still have a lot to digest as we get ready for this next medical journey with Audra.  Her first immunoglobulin replacement infusion is in two days at the hospital.  The infusion is a collection of antibodies taken from hundreds of blood donors.  If all goes well, we will then do the weekly treatments at home.

I've been consulting with Dr. Google this evening and apparently CVID can have some significant GI symptoms:

Malabsorption
Chronic diarrhea
Failure to thrive
Villous atrophy on colonoscopy

This describes Audra perfectly!

CVID might just be THE answer to unlocking the medical mystery of Audra.

It does not, however, account for her significant developmental delays.  I half-jokingly asked her immunologist if they have something they could infuse that would help her to talk!  Of course, he said no.  But the more I think about it...

if these infusions can strengthen her immune system,
and improve her GI symptoms,
it might result in better growth and nutrition,
which must mean good things for her brain!

Daddy doesn't usually get to come along to Audra's doctor appointments.  But when he does Audra helps him fully experience it!

Thanksgiving

These are the two littlest Turkeys of the family...

Audra and her cousin Tatum

We had a nice, quiet Thanksgiving day..,
A yummy dinner with my parents and my sister's family,
Followed by football watching for the guys
and
Black Friday (or should I call it Grey Thursday) shopping for the gals! 

The day before Thanksgiving brought the first snow of the season.  It wasn't much...just barely enough for the two most adventuresome kids in the family to be excited about playing in.

In some places you can see patches of green grass peeking through.  Which may have resulted in a bumpy ride, causing a few of these...

another piece of the puzzle

Audra has been seeing an Immunologist ever since her first hospitalization, which was just two weeks after we brought her home...when she had horrible fevers of 105 degrees for 28 days straight.  She was eventually found to have an abscess in her kidney...after having been through just about every single test possible.

And the exact same thing happened six months later, but thankfully this time we found the problem right away.  Both times the doctors were concerned about the extreme response her little body had to a seemingly common illness (pyelonephritis=kidney infection).

These two illnesses combined with Audra's history of infections in China (including a fungal pneumonia and ear infections that resulted in a ruptured ear drum and hearing loss) and her failure-to-thrive, malnutrition, chronic diarrhea has had the immunologist concerned about Audra's immune system for quite some time. Audra has had extensive blood work done...but there was never a clear answer.

Last month Audra has more follow up labs done.
This week she had a follow up appointment with the immunologist.
And this time the answer was clear.

When we brought Audra home from China she had near non-existent levels of certain vaccine titers.  The thought was either she wasn't actually given the vaccines in China or the vaccines she was given weren't administered correctly.  We were hoping one of these two scenarios was the case...because, if not, then it meant something within her immune system wasn't working properly.

So we re-vaccinated Audra and then checked her vaccine titers again about a month after that...and they increased to normal levels.  I thought we were off the hook.  And I think the immunologist thought so too.  The last step was to re-check those same vaccine titers about 9 months later to make sure Audra's immune system could hold on to those antibodies.

Last month her vaccine titers were checked again and they were near non-existent again.  She has lost all of her immunity over the past 9 months. Essentially, her immune system cannot retain or remember the immunity it is given via vaccinations.

This combined with her intermittently low antibody levels (IgG and IgA) clearly indicated to the Immunologist that Audra has a Primary Immunodeficiency...either Specific Antibody Deficiency (SAD) or Common Variable Immunodeficiency (CVID).  Audra had more blood work done today to help determine which of the two she has.  Either way, the treatment is the same...replacement immunoglobulin therapy.

Audra will have her first infusion of replacement IgG next week at the hospital clinic.  After that she will get weekly infusions of IgG at home.  A home care nurse will come to do the weekly infusions for a while, and eventually we will transition to doing them ourselves.

Am I surprised?
...no, I have learned to expect complexity from Audra.

Am I worried?
...sure, she has so much going on.  Too much.  How much can one sweet little girl handle??

Am I hopeful?
...ABSOLUTELY!!!  I hope and pray (every.single.day) that we will eventually find THE answer to the little medical mystery that Audra is.  This has to be a piece of the puzzle.

unhooked and checked out

Audra came home from the hospital on Saturday.  She spent 2 days connected to the video EEG...which showed no seizures.

 This a good thing!

...but a little bit defeating too.

Of course, I did NOT want to find out that Audra was having seizures...

...but the very thought of finding something (seizures) that could be treated (with medication) which might result in her having significant gains in her speech and development was filling my heart with hope.

I need to stop putting all of my hope into something...thinking that it might be THE answer...which could lead us to solving the puzzle that Audra is, and knowing how to best help her.

Maybe I need to learn to be at peace with what is.

Or maybe not.

I feel it is my duty as her mother to never stop searching for the answer, any answer (no matter what it may be) that will lead to the best possible outcome for her.  She deserves that, at the very least.

The video EEG was abnormal though, and did show the same sharp waves that she had on her previous EEG.  What this means is a little unclear.  It makes the doctors think that either she is having seizures sometimes, or she is prone to have them at some point.  But we couldn't just sit there connected to the video EEG forever.

Keeping my very active, ever.so.curious 7 year old girl entertained within the confines of a hospital room while having her head wrapped and wearing a harness that is attached to about 20 feet of cord wasn't exactly easy.

But food always helps...

The neurologist who was on service while Audra was in the hospital was lovely...and she has essentially "hijacked" Audra's care.  We will follow up with her in a few weeks to determine what the next step is...further testing vs. a trial of seizure medication.

Checked in...and hooked up

Today Audra was admitted to CHOP for a video EEG.  

She was in her room by 2:00 and had the EEG leads in place by 3:00.

She has a harness around her that holds a box that the many wires from her head connect to,

which is then connected to about 20 feet of cord so she can walk all around the room.

Which is a good thing, cause this girlie doesn't like to sit still.

It's a weird feeling to actually be hoping they find something wrong...

something they can treat...

that will help my girl gain developmental skills.

Crazy thought!!

Even with her head wrapped in gauze everyone says how beautiful she is!

Her smile lights up the room

and her laugh is contagious!

She's making friends around here fast...like she usually does :)

She's now fast asleep,

and while I am no expert in interpreting EEG's...

all the peaks and waves on the screen right now surely don't look like she's sleeping.

The screen definitely looked "quieter" when she was awake.

We might be here just one night,

or we may be here a few nights.

I'll know more when the sun comes up...

A week full of Fall (halloween) fun

Sunday...

We went to the Freddy Hill Fall Fest, with Charlotte of course!

The giant hay slide was fun...

but the pumpkin patch had slim pickings :(

The girls came home with few small pumpkins.

Monday...

the kids went to grandma and grandpa's house for some early trick-or-treating.  We wanted to see grandma before her surgery Tuesday.  She's getting a shiny, brand new knee!

Friday...
was the Halloween parade at school

I don't have a picture of Aidan at the parade...

it would have been very uncool of me to take his picture...

he's a 5th grader you know?!

Halloween night was a little chilly.

Audra looks like the snow fairy version of Tinkerbell.

BatGirl (aka Maura)

Aidan (the soccer player) was off trick-or-treating with his friends before I could get his picture.

And Riley chose to stay home again this year and give out candy.

Charlotte joined us for trick-or-treating, and these three cuties tired out after about an hour.  Which was just find for this cold mama.  Once home, the real fun began...
enjoying some of their loot!