Celebrating Christmas

Here is a summary of our Christmas preparations and celebrations over the past few weeks.
(Warning...this post contains excessive amounts of pictures!)

Visiting Santa

My sister and I took our girls to see Santa together.  This is her daughter, Tatum's first Christmas, Audra's "second" and Maura's sixth!

 Maura is an old pro with Santa...she was so excited.  She gave him a story she had written for him and a big hug!

Tatum didn't seem to mind sitting on the jolly old man's lap.

Audra, though, would have NO part of it!

 As if to say...don't even try to make me do this:

Baking Christmas cookies

This was definitely a more desirable Christmas activity for Audra.

Maura did almost all of the decorating this year:  mommy frosted and she sprinkled.

Christmas portraits

We had portraits done with cousins Daniel and Charlotte.

the girl cousins...

the boy cousins...

my sweet kiddos...

my handsome boys...

my beautiful girls...

Christmas Eve...

We always spend Christmas Eve at my parents house...dinner and presents with my siblings and their families.

When we got home to kids were anxious to go to bed so Santa could come.  But first, Maura picked out the most perfect of the cookies she had made and left them out for Santa.  Then she sprinkled the magic reindeer food she had made at school on our lawn.

I love the beauty of the tree on Christmas Eve, with sparkling lights in the dark of the night, and colorfully wrapped presents below...waiting for the children who lay sleeping upstairs...dreaming of what tomorrow will bring.

Christmas morning

Yep...Santa came!

The older he gets...the smaller his presents get in size?! 

(but not cost!!)

Ready for church

The rest of the day was spent enjoying new toys and the company of  the many family members who stopped by throughout the day.  And since Christmas is also Daddy's birthday, the presents and celebrating continued...

Just in the {Saint} Nick of time

Christmas crept up on me this year.

Maybe it's because Thanksgiving was late this year, or maybe it was just me.  I found it hard to get myself into the holiday groove this year.  For whatever reason I wasn't "feeling it"...which is very unlike me!  And before I knew it time was running out.

On Saturday I found myself wishing for just a little more time...

I needed Sunday (my last day off before Christmas Eve) to be 48 hours long instead of only 24.  I really didn't know how I was going to manage to get everything done before the BIG day.

Sunday came and went, and I tried my best to be as productive as possible...

Shopping,
wrapping,
baking,
cleaning,
decorating.

And when the day was done I resigned myself to be satisfied with what I was able to accomplish in those 24 hours, even if I didn't get everything crossed of my Christmas to-do list.  Ready or not, Christmas would be here in just a few short days.  And those few days I would be spending at work.

Then Monday morning came and Aidan wasn't feeling well.  He stayed home from school...so I stayed home from work.  A blessing for me...not so much for Aidan.  (Thanks for taking one for the team, Aidan!)  I had a very productive day at home getting all those last minute things done that I thought just wouldn't happen this year.

Bring it on Christmas...I'm ready!

Infusion #3

3rd SCIg infusion...
2nd one at home...
1st time on our own!

...and Audra did even better this week than last week.  She still fought us getting the needle in (who wouldn't?!), but as soon as that part was done she was happy to sit in bed with us and watch TV.  Trouble was she fell asleep...and 90 minutes later when the infusion was done we had to wake her up to take the needle out :(

Not the way anyone wants to get woken up...especially when you are comfy, cozy...snuggling in bed with Mommy and Daddy.

Lucky for this Mama and Baba, Audra is quick to forgive and doesn't hold a grudge.

So, snuggle time resumed!

Audra seems to be having some headaches associated with the immunoglobulin infusions.  They are random, but significant.  He holds her forehead and says "ow", and she rarely if ever complains of pain.  One particularly bad day she was crying and inconsolable at school so we had to go pick her up.  For the 24 hours before each infusion I give her lots of extra fluid in her G-tube in hopes of minimizing the side effects.  I may need to start giving her Tylenol routinely too.

1st infusion at home

Tonight was Audra's first home infusion of SCIg.  A home care nurse arrived at 6:30pm.  First we had to complete some paperwork...consents, insurance forms and such.  Then the nurse examined Audra....the obligatory temperature, blood pressure, weight and height check.

When it was time to prepare the medication I pulled out all the supplies that had been delivered earlier in the week....

medication
syringes
tubing
needles
dressings
pump
alcohol preps
sharps container

I laid out everything we would need for tonight's infusion and the nurse looked at me as if to say "go ahead".
Alrighty...I can do this...I am a nurse...

The preparation of the medication is actually quite easy.  Except that it is quite thick, which makes it challenging to pull up into the syringe and remove air bubbles from.  And to think that something so viscous needs to be injected into Audra to keep her healthy?!

Then it was time to insert the needle.  Our delivery of supplies only included single needles, not double needles like they used at the hospital last week.  So we would have to inject the entire 10ml of thick antibody goodness into one area of my skinny girl.

Again...I got the "go ahead" look from the home care nurse.  Silly me, I thought we were going to ease our way into doing the infusions by ourselves.

once Audra was more comfortable with the process...
once her mama was more comfortable with the process!

Sure, I know HOW to insert a needle...but inserting a needle on my own little girlie is so.very.different!

To my surprise Audra did much better than I anticipated.  She still fought and we had to hold her down, but the minute the needle was in she was FINE.  She wanted to keep the site covered with her blanket and wasn't to happy when I checked on it every so often.  The infusion took about 1.5 hours and then the fun of getting the needle out started.  The home care nurse had left before the infusion was done, she had deemed us competent enough to manage on our own!  Lucky us.

I really think Audra was more bothered by pulling the dressing off her skin than the actual needle removal.  Once the needle was out and safely stowed in the sharps container (these needles don't have a safety lock to prevent accidental  pokes) we tucked her in for the night and she fell asleep fast and hard.

SCIg...Hizentra

Audra's treatment for CVID is weekly subcutaneous immunoglobulin replacement therapy (SCIg).  Her prescription is for Hizentra.  It contains antibodies from the plasma of thousands of blood donors.

Antibodies that her little body doesn't make to protect itself.

Audra's immunologist prefers subcutaneous administration vs. intravenous administration for Audra.  She gets her monthly dosage of immunoglobluin divided into four doses, given once a week.  This will allow her body to have more steady antibody levels.  When given intravenously, the antibody levels spike on the day of administration and then taper off as the month goes on.  This can result having less protection from illness in the 3rd and 4th weeks after receiving the IV immunoglobulin.  When given weekly, Audra should have a steady level of antibodies at all times to help protect her.

Here are the basics:
~ draw the medication up into a syringe
~ attach tubing to the syringe and prime tubing with the medication
~ put the syringe into the pump
~ clean the skin site with an alcohol wipe
~ pinch the skin up and insert the needle, cover with a dressing to keep the needle in place
~ start the pump, it runs by pressure so the amount of time it takes to infuse is somewhere around an hour

Next...try to distract a rambunctious little girl during the approximately one hour long infusion!!

When the syringe is empty, remove the needle from the skin and discard in a sharps container.

Then repeat 7 days later.

For SCIg the side effects are usually local swelling or irritation.  Some people experience headaches, body aches, and GI symptoms.  Generally, subcutaneous administrations has significantly less side effects than intravenous administration.  

CVID

The immune deficiency that Audra has recently been diagnosed with is:

Common Variable Immune Deficiency

Common Variable Immune Deficiency (CVID) is a frequently diagnosed immunodeficiency characterized by low levels of serum immunoglobulins and antibodies, which causes an increased susceptibility to infection.  People with CVID often have infections that are described as recurrent, persistent, unusual or severe.  While CVID is thought to be due to genetic defects, the exact cause of the disorder is unknown in the large majority of cases.  Compared to other human immune defects, CVID is a relatively frequent form of primary immunodeficiency, found in about 1 in 25,000 persons; this is the reason it is called “common.” The degree and type of deficiency of serum immunoglobulins, and the clinical course, varies from patient to patient, hence, the word “variable.”  Patients with CVID also have an increased incidence of autoimmune or inflammatory manifestations and an increased susceptibility to cancer when compared to the general population.  Both males and females may have CVID.  In the majority, the diagnosis is not made until the third or fourth decade of life. However, about 20% of patients have symptoms of the disease or are found to be immunodeficient in childhood.

Diagnostic Criteria:

• recurrent infections (especially involving the ears, sinuses and lungs)
• digestive system problems (malabsorption, diarrhea, poor growth)
• low immunoglobulin leves (IgG, IgA and sometimes IgM)
• low antibody responses to vaccines 

Treatment:

People with CVID receive intravenous (through the vein) immunoglobulin replacement therapy every three to four weeks or subcutaneous (just under the skin) immunoglobulin replacement therapy every week to restore normal immunoglobulin levels.  The immunoglobulin given by either of these methods provides antibodies from about 60,000 healthy donors each time it is given.  Many patients need preventive antibiotics as well.

Audra has:

• low IgG and IgA levels
• loss of antibody response to vaccines (diptheria, tetanus, measles, pneumococcal)
• digestive problems:  malabsorption, diarrhea, failure to thrive, villi blunting on endoscopy
• recurrent ear infections resulting in ruptured ear drum and hearing loss
• usually severe UTI's resulting in pyelonephritis and kidney abcesses, with a severe inflammatory response (very high CRP and ESR)
• unusual fungal pneumonia when she was an infant in China

Infusion Day #1

Audra did very well today with her first immune globulin infusion.  

(her super power antibody infusion as I told her)

I picked her up from school just before lunch time and she just knew it probably wasn't a good thing.  (Well, really, it IS a good thing...but there's probably no convincing her of that!)  She procrastinated a bit by taking some extra time saying her goodbyes and then reluctantly took my hand as we walked to the car.  

I had picked up a happy meal for her to eat on the way down to the hospital but she must have been really nervous because she wouldn't eat.  And Audra not wanting to eat is like...Stop the Press!!  Breaking News!!

The day medicine unit where the infusion was done is very nice.  She was in her own little cubicle with a recliner-type chair and a TV.  I brought plenty of activities and snacks to keep her entertained so we were set.  

Then it was time to begin...

Audra has been around hospitals enough during her 19 months home to pick up on the subtle clues pretty quickly...

the nurse puts gloves on

another nurse enters the room

they gather supplies from the cart

She was not happy and she let us know!

This sweet little girl needed 4 nurses to hold her still while two nurses put a needle in each of her thighs.  

Tiny but oh.so.mighty!  That's my girl :)

Once the needles were in we covered her legs with a blanket and it was like nothing ever happened...

~snacks in hand

~Doc McStuffins on TV

...all was well.

The infusion took one hour and she tolerated it beautifully.  I had pre-hydrated her last night and this morning with extra water in her g-tube to hopefully prevent some of the nasty side effects:  nausea/vomiting, headache, body aches, etc.  They said she may be more tired than usual, and I think she was.  Our "little tornado" was more like a gently breeze the rest of the day.  She is definitely sore at the infusion sites and won't let me go near them.  

We were "gifted" with many things on this first infusion day ...

~ books and a DVD from the Immune Deficiency Foundation for me (looks like I have some homework to do!)

~ a binder for organizing all of Audra's medical information

~a cute little stuffed monkey with play infusion supplies for Audra (from the company who make the immune globulin)

Infusion #1 was a success.

Infusion #2 at home next week.

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!