Thursday, March 13, 2014

The Wait is Over....Sort Of

When you're waiting so long for news, you're always anticipating the call.  Yet, in waiting so long, we've almost been lulled by our routine that everything is starting to get back to some semblance of normal.

Last week we had a reminder that for now, that still isn't the case.

After developing a pretty high fever, in addition to vomiting, immunology told us they wanted to see Cole.  When we went in on Thursday it seemed Cole was over whatever he had  been fighting on Tuesday night.  His doctor was happy to see he was doing better and was ready to share Cole's exome sequencing results.

As long as we'd been waiting for this day, I was just as nervous as I was excited.  Whatever our doctor was about to share could change, even shatter, the cushion of comfort we've finally wrapped around our family.

Ultimlately, Cole has an autosomal recessive genetic mutation which indicates the possibility he will develop hemophagocytic lymphohistiocytosis, or HLH.  According to Cincinnati Children's, "HLH is a disorder of the immune system in which too many infection-fighting cells are produced and activated, causing damage to organs."

As most children affected by HLH are diagnosed after they have been ill, it is hard for doctors to predict what will happen with Cole, or whether he will ever develop HLH.  For now, they know having the mutation could explain the underlying cause of Cole's nk cell dysfunction as well as help them diagnose HLH in a timely manner if he were to develop it.  Time is essential in diagnosing HLH, as without treatment it is 100% fatal according to Cincinnati Children's.  Treatment is a bone marrow transplant.

For now, the plan with our doctors is to continue to be vigilant regarding exposures to any contagious illnesses with Cole.  In addition, at the development of any high fevers, immunology will be contacted so together we can monitor and track how the fever progresses as a warning sign of HLH is a persistent high fever.  After a certain pattern, Cole will be sent for blood work to determine if HLH has developed.  Doctors in Houston will also be looking at his current nk cell function with a new sample.  The hope is that with his Crohns in remission we might see some slight improvement with nk cell function.  If this is the case, based on what they know, we might be able to rule out the likelihood HLH will develop.  Since Cole has been sick, we have to wait a bit to send the new sample.  Locally, Cole's immunologist will be looking at his blood to see if he has developed any antibodies towards the various viruses we have been told his body cannot fight.  If we have had an unknown exposure and Cole has fought it, his doctor may reevaluate his current diagnosis.  So much new information, yet even more questions, not just by us, but Cole's physicians.

After hearing this news, my head was spinning.  Sure, Cole hasn't been diagnosed with this disease at this point but the possibility is frightening.

After falling asleep early Thursday night, Cole woke up crying and heaving.  It seemed he needed  to be sick, but couldn't.  When he finally was, he threw up blood.  We were sent to Children's Hospital.  Despite seeing liquid around his stomach in an ultrasound, the ct was clear so we were sent home.

Cole was pretty lethargic on Friday, but we chalked it up to being poked and prodded all night long, after all we were tired too.  By Saturday evening, he was throwing up or coughing up gobs of blood.  The increase in the amount coming up was alarming.  We went back to the hospital.  After being admitted, our gi doctors went back through the various tests and told us that Cole had pneumonia, which was present on the tests from Thursday.  After some antibiotics and fluids we were able to come home for Cole to recover.

As a whole, a pretty eventful week.  In terms of the news, we are taking it one day at a time, none of this could be expected, and none of it is in our control.  Like the rest of this journey, we have to believe God has a reason and trust in His plan.

Sunday, February 16, 2014

Flu Season

If I haven't mentioned  it, I really hate flu season.

To me it doesn't mean sickness, it means avoidance.  Avoiding germs this time of year is tough, especially when every microorganism at school tries to hitch a ride home with my girls.

While we are careful throughout the year, forgoing many things we'd like to do as a family, this year flu season is eating away at me a little.  Maybe it isn't flu season by itself, but the waiting and anticipation of so much this week.  Either way, it's driving me to find distractions.

Like planning a day of Harry Potter potion activities.

Like bringing all the chairs in the living room to build a fort.

Like putting extra chocolate chips in the pancakes.

Like baking a requested cake, smothered in ganache, which I can't touch.

Like singing Sara Bareilles with the girls at the top of my lungs , changing the station and doing it all over again.

Like making ice cream in a bag, then turning it into root beer floats.

Oh wait, those aren't distractions, all of those things are just the every day.

Here's to a week of the every day around here.  Maybe I can't do every little thing I'd like to, or see all the friends and family I'd like to at times, but I realize, some times our every day rocks around here.

Regardless, for the record, I still hate flu season.

Hopefully I will have news to share with all of you later this week on a number of fronts.  Stay tuned.

Friday, January 31, 2014

A Little Bit of Something...

Emotions can be overwhelming.

Last February break the five of us trucked on up to Children's Hospital to have blood taken and sent to Houston for analysis.  Then we waited.

Yesterday I went online to check my e-mail, news being the furthest thought from my mind, yet there was a message from our immunologist that Cole's genetic testing was finally in.

Between the excitement that there was finally news, the nervousness of what I would learn in the rest of the message, and the sheer relief that the wait was over, I was jittery to say the least!

Reading on, our doctor explained that there were three different mutations identified in the study.  The first two seem to have no correlation to Cole's Crohns or nk cell disorder, the third may hold the key.  So while each of these strands need further investigation, right now the focus is on the third mutation that was found. In the end, it could be "inconclusive" as well, but for now it hold some promise of answers.

For now, our immunologist explained she and the researchers at Baylor need to have some further discussion after looking at all of Cole's other tests he has had over the years.  In addition, our doctor wants to consult with our gi practice before sitting down with us and explaining results and implications.  At this point, she is planning to join us at Cole's gi appointment next week to go through everything she has to clearly define what it all may or may not tell us.

After the long wait, I think this last little bit may be the hardest.  Knowing there is something to learn, the information right there on the edge to be delivered, is just incredible to me.  What we may hear has the power to change our lives again, for better or worse. That in itself is frightening.

In the meantime, we have to go for another set of nk cell tests for Cole and continue as we have been.

Looks like next week will be a busy one, two hospital days, one for blood, the other for his infusion, and a day in the clinic.

I better get my donut money ready, I have one little boy who will not only deserve them, but will be asking!  Instead of a Tim Horton's in the hospital lobby I think they should have a fruit stand!

Tuesday, January 7, 2014

Granted

It is amazing how much you don't realize you take for granted when everything in life is flowing smoothly.   Equally amazing, what you learn and come to understand about yourself and those around you when things are not.

Things that were once a given have changed beyond your imagination.  The mundane routine can easily become a celebration.  An acquaintance turns into a trusted life-long friend.  Your eyes are opened to clearly see those only adapted for fair weather and blue skies.

Life isn't always beautiful, but there is always something miraculous to witness.  Right now, my eight year old is sleeping in the chair as I type.  She had one of her night terrors and asked if I'd sit with her.  It seems like we just brought her home yesterday, and here she is, so big, growing up into such a beautiful, amazing young lady in blink of an eye!  For a moment, as I watch her dream, I'm taken back to watching her as the other kids sleep as babies.  No matter how long the days can be, my heart is filled with love from being their mom.  Becoming their mother has changed me, made me less selfish, made me more empathetic, made my heart fuller.  For that, I am grateful and hope to never take for granted.

For the friends and family who have dropped everything to help us, I really cannot say enough.  We are still on a long road.  While I must sound like a broken record by now, I must repeat how the little things have meant more than we can explain.  For each of you, for being there when we've needed, even when we didn't think we needed anything, I am beyond grateful.

Regardless of where you are, things are going well or if you've hit some road blocks like we have, stop and be thankful for at least one thing.  There is at least one thing you can be grateful for today.  Start there, it makes a world of difference when you're scaling Everest without oxygen tanks.  Crazy to realize now how you took those tanks for granted last time you were into thin air.  Good thing you can catch your breath while reflecting.

What are you grateful for today?

Friday, January 3, 2014

My Board

Beginnings are exciting!  Fresh, new, and filled with promise in addition to so much hope.

I'm saying farewell to 2013 with this dream board for 2014.  As I went back and forth about putting this out there, I thought maybe by sharing a few of my 2014 dreams, some of you might think more about yours as well.

There is always so much to learn!  While I have a good start with the guitar from last year, when my hands finally stop shaking enough to play  I'd like to learn more. Not only have I enjoyed the process, but actually playing again on a more regular basis brought back something in me I'd misplaced some time ago.

In the meantime, I have a little girl with a new sewing machine, itching to make a long list of projects.  Her enthusiasm is bubbling over like a shaken bottle of champagne and I can't help but feel the same.  Here's to relearning about bobbins and seams this year, but even better, seeing the satisfaction on her face when she finishes the first on her list, a pillow case!

While we have waited for Cole's news and altered our daily existences to all the physicians have advised, we've placed so much on hold.  Obviously it is out of necessity, not to mention the absolute best choice for Cole, but at the same time, there are still memories to be made.  For now, there are many places the girls are dreaming about that are just out of the question, which makes me sad.  However, unlike last year, Nick and I want to get them camping, somewhere with good fishing, lots of new hikes, and beautiful scenery.  This is one thing we know we can do safely out of flu season, and we hope to have either friends or family along for the journey to share some of the adventure with us to help make some of these memories, they are better and will last longer than anything we can buy.

Personally, while not an exact location in mind, I'd like to have a day, somewhere with beautiful scenery, just to sit, reflect, be quiet, and write without interruptions.  Yes, I realize I can write at home, and while I do, I would like an opportunity for a little composition retreat. No place far or crazy, just inspiring.

Oh good deeds.  So many things I dream of here.

First of all is related to our Crohns and Colitis walk.  This will be our third year walking as our team "Cole's Crohnies" to raise awareness for IBD and funds towards a cure for these life-long debilitating conditions.  In the past, Paige and Gwyn have found their own ways to contribute to our team.  This year  Paige wants to make loom bracelets in hues of purple and white, the Crohns and colitis colors, and sell them to raise money to donate.  To help her, I want to plan a loom afternoon for friends who would like to help get an inventory together so she is able to have some to maybe stock at the school book store if she is granted permission or even sell at a school function.  Ironically, the bracelet colors are her school colors, so she is hoping her idea will be a success.

For myself, this year is about giving back and paying forward where I can.  Honestly, from friends just lending an ear as I struggled through accepting permanent changes, to celebrating ups and encouraging me through the downs of Cole's journey, not to mention the sheer outpouring of support during my little hiccup, I am so grateful and fortunate to have such abundances of friendship and love blessing our corner of the world.  It is the little things that are truly the big things, and if I can do one thing to brighten someone else's day a bit when they need it, I would like to.  I know the difference these gestures have meant to me, and while giving back isn't anything new, I'd like to find more instances to do so.

One thing I'd like to try to be better at is staying in touch.  Everyday life gets so busy sometimes and I put off writing that letter or email, or even making the phone call to someone I haven't talked to in a while, but would like to.  Before I know it, so much time has gone by!  I'd like to see more of our friends and family when we are able, catch up by the fire or go on a hike if that is what we can coordinate.  I miss the house full of people, whether it be for a holiday, a football game or just because we made a big dinner.  Even with our limitations, I know there are ways we can connect virtually and safe times of the year to get together with others.  There are so many of you I'd love to catch up with, and in some way, shape or form, I will try my best.

Yes, I have a few other personal dreams are fairly basic.

The first is to do what I need to get stronger, recover, fall into and maintain remission.  Ok, so it sounds much easier than it may be, but it is purely a matter of doing what is necessary one day at a time, one activity or meal at a time.  While I've had my diagnosis for years, even had some nasty flares, I have never taken it as seriously as I do now.  This summer I want to be able to keep up with the kids no matter what we are doing, which means I need to take little steps every day to get there.  I know I can do this, and I know the end result is worth it.

The second is to get rid of the clutter.  Boxes in the basement I haven't touched since we moved need to go.   Pre-pregnancy, out of fashion clothes I might wear someday need to go.  So many other things I do not need, just need to go.

Lastly, I plan to excel in what I'm working on from home.  For now, that's my Tastefully Simple endeavor.  Hopefully in the near future I'll have another new set of tasks to accomplish.  Work challenges and goals have always driven me, having them again will not only benefit me but the household as well.

My family goals are simple.  I want to be in the moment more.  I want to listen more carefully, more intently.  Every once in a while, I'd like to stop for a one on one with each of the kids, again, to talk, connect with their hopes and dreams.  I'd like to build new memories: fun ones, silly ones, happy ones.  Besides one on one time with the kids, I hope to steal some time for a date or two with Nick, something we always say we will do, but rarely fit into the mix.

It looks like my 2014 will be rather full at this rate!  I'll take it and run. I'm ready for it all,  even the surprises that I know are lurking around the corner, after all, they make good stories later on.  :)