Coffee in my cup

I have wanted to update this blog for a long time, but it's been a busy few months (which is really no excuse).

Much has changed in our day to day lives...as my husband said a few days ago "nothing ever gets easier, just more complicated."  Truth.

After spending 18 days inpatient in October, Bella was discharged the end of October with a picc line and on TPN (IV nutrition).  She was admitted again in November for a fever (a central line means every fever is considered a possible line infection, which requires a 48 hour hospital admission and blood cultures.  Luckily, her cultures were all negative).

To make a very long story short...Bella had surgery last week to place a more permanent type of central line (a broviac).  Our GI specialist is hopeful that the need for TPN is only temporary, and I hope the same.  For now though, she needs the extra nutrition and calories that TPN provides, and I'm grateful that we live in a time where medical technology has made it possible.  Thank you for all the prayers, love and encouragement for our family and our girl.  I love her to pieces, but I am so ready for boring.  :)

Merry Christmas from our family to yours.

I know. 

I know I haven't updated regarding NIH yet.  It was an emotional week, with lots of things I'm still processing.  I want to recap the week, if for no other reason, so that I can look back at it someday.

For now though, I just wanted to check in since it's been a while since I've blogged. 

Bella is doing ok.  She gets private therapy 3 days a week, (45min away one way), plus add in dr appointments and the chaos of 2 brothers..and well, life is busy!

We saw her epileptologist at the end of Feb, and she had an outpatient EEG the same day.  Bella's EEG is pretty terrible, and she's been admitted urgently several times after a routine EEG.  (It's not fun to be admitted 2 hours away when you are totally unprepared)!  Her EEG typically draws a crowd, and panics the EEG techs, as it shows constant seizure activity (nonconvulsive status epilepticus is the technical term).  We don't see many of the seizures she is having, and I've learned to trust my gut, and go more on how she's acting (less interaction usually means she's having more subclinical seizures).  I decided to pack a bag this time (hoping that by being prepared, we wouldn't be admitted)!  I'm happy to say it worked and we were not admitted! 

Not much has changed in her EEG.  It still shows constant seizure activity, with seizures occurring about every 30 seconds.  If I think about that fact to much, it makes me want to cry.  That has to feel terrible.  We are slowly increasing some of the meds she is on, in the hopes that it might help the seizures we do see.

Funny story:  We live in an area that is home to a large Amish community.  (No, we are not Amish)!  This was the my conversation with the EEG tech:  (There was a road closure due to a water main break, so we were a few minutes late).

Tech:  "Did you drive yourself here or did a van bring you?  Did you have to wait on your driver?"

Me:  "Um, no, I drove myself". (looking confused). 

Tech:  "Oh , WOW!!!   You drive?!!! I thought Amish didn't drive!!" 

Me:  "Um, I'm not Amish."

Good grief.  Does our picture on the blog look like we are Amish?  Sigh.

Bella's also been having some GI issues.  I won't go into all the details right now, but the current consensus is that her viral illness in November, triggered some of the symptoms we are seeing.  She is currently on an antibiotic to see if that will help.  If not, we may be looking at changing her G-tube to a GJ tube (instead of the tube being in the stomach, her feedings would bypass the stomach, and go straight into her small intestine).  I'm hoping we can avoid the GJ, but obviously will do what is best for her. 

There's never a dull moment with Miss Bella!  :)

Here are a few recent pics.  On the days when I wonder "why" or feel down, this smile gets me through.  I love this little girl with all my heart, and I am so beyond blessed to be her mama.




 

As usual, I'm way behind on blogging (I know I say that all the time), but it's been somewhat of a whirlwind these past few months.

I'm not sure where to start, but I never cease to be amazed by God, and how his fingerprints are so evident all over Bella's "story".

In my last post, I talked about how disappointing it was to have our NIH trip rescheduled, but I was trying to believe that God had a plan in Bella's illness, and having to reschedule our dates.

When am I ever going to learn to stop questioning God?!

The week between Christmas and New Years' we went on vacation to Florida (that deserves it's on post at a later time, but let's just say Murphy's law was in full force before we left..ahem).

A quick background:  Before we knew Bella was accepted into NIH, we had some genetic testing done through a private research company, with the understanding that these results would take approximately 2 years to complete.  We had our blood and Bella's blood drawn in February of last year.  I really had put this testing out of my mind, as I assumed that we still had another year to wait for results. While we were in Florida (literally an hour after we arrived at the beach), we received a call that Bella' exome results were back, and could we schedule an appointment in 2 weeks to discuss them?

Really??  Although we'd been searching for answers for 4 long years, a), this is not a call you want to receive on vacation, and b), now they were going to make us (me) worry and fret for 2 weeks about these results??!! c), we were supposed to leave for NIH 6 days after we returned from Florida...now what?  Would they still want to see Bella knowing we have these results?!  As a sidenote:  If the researcher is calling you  saying they want to set up a teleconference to discuss results, they are not calling merely to tell you everything is normal, and they didn't find anything.

As I was talking to the researcher on the phone, I mentioned we were scheduled to be leaving for NIH in less than 2 weeks, and it would be very helpful to have these results prior to us leaving, was there any possibility of getting an earlier appointment time?  She told me to hang on for a minute, and came back on the phone saying she just so happened to have a cancellation for 9am the next morning (hmm, likely story, but hey, at least we didn't have to wait for 2 weeks)!  Another sidenote:  New Years Eve is not exactly the ideal time to learn this type of news.  Happy 2014??  At least I had wine on hand).

Without going into a huge amount of detail (final confirmation from buccal swabs are still pending as I type this), these preliminary test results show that Bella has a rare genetic metabolic disorder.  I feel a little dramatic typing rare, but when I spoke to our neurogeneticist a few weeks ago and told him that, he said this;  "Julie, this disease would be classified as the rare among the rare.  When I go to conferences about rare diseases, all of us doctors go through our patients lists, saying, I have a patient with such and such a disease.  When I tell them I have a patient with this type of disease, I will have a crowd of people around me, wanting to know more".  Oh, my sweet Bella. Why does this not surprise me...you have such a flair for the dramatic.  :)

I feel as this post is becoming very long and boring!  To make a very, very long story short, I spent the rest of the vacation alternating between shock, sadness,(this is not a disease you would wish for your child), and anxiety regarding NIH.

Again, though, God is amazing, and had a plan.  As it turns out, NIH had been researching this very disease, and the director of the NIH's pediatric undiagnosed disease program (yes, you read that right, the director), had a personal interest in this genetic mutation, and told me she had been waiting "for five years to see a child like Bella".  To say they were thrilled to see Bella would be an understatement. 

Um, Ok, God..I get it.  All the worrying I did about whether NIH would still see her...you had that under control?  You didn't need my help?  I should have just trusted you?  When will I ever learn...?




I apologize for not updating the blog sooner, but it's been an interesting few weeks, to say the least.

In my last post, I shared how we were scheduled to be evaluated at the NIH in November.  That week was supposed to happen last week (the 17th-23rd). 

We had made so many preparations..emotionally, logistically, plans for who would care for the boys, notes, lists, etc, etc, etc.  I was as ready as I thought I could be.

Then came Friday, November 15th.

On Friday, in the midst of packing, I picked Bella up and she seemed a little warm.  No big deal, right?  It was a little warm in the house.  She wasn't acting like herself either (probably tired, right?), but I decided to take her temperature, just for the heck of it.

101.5.

My first thought was "you have got to be kidding".  I had received numerous emails from the NIH that if Bella were to get sick, fever, diarrhea, etc, to notify them immediately.  So, I did what any good mom would do...I gave her a bath.  :/ 

I was hoping, really hoping, that she really was just hot, and it was just her body not being able to regulate her temperature.  She was 102 after her bath.

To make a very, very long story short, NIH first postponed our evaluation, in the hopes she would be well enough to travel on Monday.  (She wasn't), so her evaluation ended up being cancelled, and will be rescheduled for January.  It's been almost 12 days now, and Bella is STILL sick.  We spent 2 days in the hospital last week, but after countless tests, pediatrician visits, blood draws, and chest x-rays, the consensus is that it is just a nasty viral illness, and it needs to run it's course.

Every illness seems to hit Bella a little harder, and takes longer to recover from, than healthy children.  She was so healthy last winter, that I forgot how rough illnesses are on her body.  I am cautiously optimistic that she has finally turned the corner, but I  miss her smiles and miss that sparkle in her eyes.

Here are a few pics from the last week: 

The first one is after her 102 temperature broke in the hospital..it was a rare smile for that week (I haven't seen many since), and Bella's smile is one of my favorite things.


I don't know why our trip had to be rescheduled.  I don't know why after all the preparations we made, the waiting, and the praying, that Bella had to get sick on that particular weekend.  I'm really, really trying to believe that there is/was a reason for all of this.  A friend posted this on my facebook status, and I've been choosing to believe these words: "As I woke this morning I thought of all of you...and spent my shower time (the only quiet time all day)...praying for you. I know how very disappointed you are that this has happened, but I have to believe without a doubt that this is not the right time for her to do the NIH thing. You may one day know why...you may not...but I see God's hand in this Julie."

I'm choosing to believe these words, and trying to remember that God is so much more wise and bigger than I could ever imagine, and that he loves Bella more than I ever could.

I'm also investing in some vitamins and bubble wrap to wrap Bella in until January.  :)

Thank you so, so much for all your prayers and love.  They mean the world to me.

To those of you who are visiting from Kelly's Korner, welcome!  I'm Julie, mom to 2 boys, and a little girl named Bella.  Bella is our medically complex, special needs child.  Bella is 4, and although she has an impressive list of diagnoses, still does not have a central diagnosis, (despite countless tests, and procedures).  She is non-mobile, nonverbal, suffers from epilepsy, low muscle tone, and the majority of her nutrition is through a G-tube.  She also suffers from an irresistible smile, contagious giggles, and crazy curls.  ;)  Bella recently was accepted into the National Institute of Health's undiagnosed disease program, and will be admitted for a week at the NIH clinical center in November.  Prayers for that week (and for this anxious mama's heart are so appreciated).  :)



I've been absent on this blog for a while, because to be honest, I'm not sure what to write.  Do I bore people by giving updates?  How much information do I share?  Do I write about yet another doctor visit, therapy appointment?  Do I write to much about Bella and not enough about the boys?

I miss writing.  I miss chatting with friends.  Sometimes, I feel as though people aren't really sure what to say to us, for fear of saying the wrong thing. 

You know what? 

I'm not sure most days what you should say either.

Some days, I want to talk about Bella and the challenges we are facing.  Other days, I really just want to get away from it all, and would love nothing more than meaningless conversation about TV shows and the latest fashions.  One hour I'm tired and grumpy from fighting yet another battle with the home care company (how hard is it to send the right box of feeding bags?),  yet in the next hour I'm giddy from a great physical therapy session. 

Confused?  Me too.  How can you know what to say, when I don't even know what I want to hear?  I have found there are some things though that should just be left unsaid (and yes, all of these have been said to me at one time or another).

1.  I don't know how you do it, because I could never do it.  You could.  I promise.  I never in a million years thought I would be the mom to a non-mobile, non-verbal child with significant medical issues.  But I am.  You do what you have to do for the people you love more than anything else in the world. 

2.  God only chooses special parents, and remember he never gives you more than you can handle.  Um, OK.  I promise you, I'm not that special.  I'm just a mom, who loves her little girl more than anything.  What you are not seeing is the sleepless nights, the tears I've cried in the shower, or the displaced anger that I've taken out on my husband and other kids by my snapping and nagging. I do think, that sometimes, God DOES give me more than I can handle. I'm so grateful though, that even when it feels like it's to much, he's never once left my side or left me all alone. 

3.  But she looks so normal!  I can't even begin to write about how much this comment irks me...

4.  She has such an easy life, being pushed around in that stroller all day!  Right.  She does.  I'm sure she would much rather be pushed around in a stroller all day rather than playing, running, and jumping like other little girls her age.

I'd much rather hear words like "I'm praying for you", "How can I help", or even just a simple, "Hi'.

That being said, the truth is, I really appreciate you taking the time to try to connect.  Thank you for including me in a conversation, and not turning your back because you don't know what to say.  Thank you for taking the time to ask me how things are going.  Thank you for not staring at my daughter, without saying a word.  Thank you for understanding that some days are hard, and that we aren't really that different, me and you. If you run into me at our kids school, or at Target, don't be afraid to say hi, or ask how things are going.  I promise I won't hold it against you if you say the wrong thing (even if you say a phrase I've listed here), if you promise to extend grace to me when I'm having a bad day.

 
Even better?  Don't forget about Bella.  The people who take the time to say hi to Bella, who give her a smile, and treat her like any other 4 year old, will always get HUGE brownie points from this mama.

I'm waaay behind on blogging, but wanted to take a moment to thank everyone for their prayers and support regarding my last post.  If you remember (from way back in January), it was about Bella's application to the NIH's undiagnosed disease program.  We were told by Bella's neurogeneticist (no child should have to have a neurogeneticist for a dr..but I digress), that she would most likely not be considered, given the findings on her MRI.  Furthermore, we were told, even if they were to consider her, the chances were very, very slim, as only a limited number of applicants (50-100) get accepted (out of 1000+ applications).

Well.

I received a letter today in the mail from the NIH.  I opened it, expecting a "thank you for your application..blah, blah, blah".  Instead, there was this: "After a stringent review process, your patient's case has been accepted for evaluation at the NIH Clinical Center." 


ACCEPTED.

Honestly, I'm shocked.  I'm overwhelmed.  I'm terrified.  I'm excited.  I'm hopeful.  I'm sad.

I'm terrified of what they might find..or worse yet, that they won't find anything (this is really the end of the road for us in terms of getting a diagnosis).  I'm sad that my beautiful little girl with the crazy curls is "interesting" enough to be considered (can't I just worry about scraped knees and ear infections?), and I'm overwhelmed with gratitude that she's been accepted.

For all you who have prayed and thought of us, sent me messages and texts...thank you, thank you, thank you.  You have no idea how much that means to our family.
 
I should have more information in a few weeks, but the evaluation should take place in late fall/early winter at the NIH campus in Maryland.  Bella will likely be admitted for 2-5 days, with some of the best minds in medicine evaluating her.

Our God is amazing, isn't he?





*and I am so, so sorry for all of you that complained about the word verification for comments.  I was getting some spam comments, so it's back.  :)  Sorry!*