er waiting

In er...waiting.  Cole had a few episodes with blood so doctors felt it be best for him to come in, even though everything else is fine.

What is HLH?

I posted this to Facebook, but this is the big bad wolf so to speak.....

Fast and Raw

Sometimes a reaction is fast and raw to news..this is it, it's all I have in me tonight, since my head is reeling and my heart aches thinking about all of this.  Take it as you will, unedited and in its full nakedness of emotion.

While we've been on an upswing from one magical weekend, from Laurie Berkner to birthday cake and Christmas crafts, it was time for the pendulum to swing back into reality.

It's funny, there are so many days I sit with Cole, play with him, snuggle with him that it baffles me to think there is anything wrong with him.  Seriously, I believe it is all some kind of a fluke, a mix up of some way.

This afternoon it all came down  at once.  Persistent beeps from the other line had to wait as I tried to help Nick with his truck issue even though the source of those tones was that of our albatross, the call about our invisible chains, the invisible disease possibly polluting my precious boy.

Once the truck was taken care of, we had to wait until later in the evening for the call to come back.

Here's the thing.  While it is news, it isn't.  While it is breaking my heart tonight, it honestly isn't anything we haven't been told before.  Yet, that being said, hearing it all over again has ripped the bandage off a still festering wound.  I just want my son to be healthy and normal.  I would give everything for that.  To be told you may have some very difficult decisions ahead of you regarding your beautiful almost four year old just isn't right, it isn't fair on so many levels.  Truthfully, what breaks my heart the most is that he doesn't know any differently and watching him so full of life, innocence, just makes all that might come that much harder to accept.

And there it is, the word might.  It is still all such a crap shoot.  With genetics it is all about the possibility and probability.  IT is likely, but it may never happen at all.  If it does, it is often fatal, then again, it may never be an issue.

Here is what we know.  Cole has this mutation in the STXBP2 gene.  The information from the whole exome sequencing tests is contradictory.  One way of looking at it indicates the mutation falls in a silent region of coding, one that really doesn't really affect the body and is very hard to detect.  Not that it can't be something to worry about, but the likelihood is slim.  The second way of looking at the results indicates hlh markers, the higher probability Cole would be impacted by hlh with the right triggers.

Our immunologist and genetic counselor here in Buffalo have talked with geneticists in two different labs. Both labs agree that the data we have was contradictory and belives we need to move ahead with more tests. They said the recommendations are at extreme ends of the spectrum.  One felt we should look at every single gene that could be an hlh marker,almost like a witch hunt as we have had this run before with the whole exome sequencing and the only hlh gene that was indicated was STXBP2.  Then again, it would also rule every last question out regarding hlh risk for Cole.

The other lab felt they could target two specific exons within the STXBP2, exon 3 and exon 5 as these are the areas where the mutation lies.  If looking closer again they found anything that would indicate an hlh marker, we immediately head to Cincinnati Children's and start discussions about treatments and transplantation.  Which, I was reminded again tonight, is not without its own risks.  I'm sorry, and maybe I'm rambling, but why do I have to think about risks with my perfect little boy?  Why can't we just get excited about preschool and trains like every other four year old?

There was also an in between, we could just resequence STXBP2 for a closer look.  But really, in the end, the two exons are what our doctors say are the area of the problem and exactly what needs to be looked at to confirm or dispute the other findings.

In the end, we have to decide, the doctors do not feel there is one right path, we have to choose, just like we may have to weigh tough options in just a few months.  We have a recommendation from our physicians here, but still need to decide.  Of course all of these options are not covered by insurance, being genetic tests they are harder to get covered.

Right now we need to make some decisions.  Obviously the smaller the area to be coded and analyzed, the faster the turnaround time.  Holiday time is not the best for shipping samples, so while we want to have this started immediately, it looks like they will wait until his next infusion date.  In addition, our immunoligst is going to run the regular panel to see if Cole has had any exposures to chicken pox, mono, or any of the other viruses he may struggle with due to his nk cell dysfunction. If he has been exposed and has begun to build antibodies, we maybe looking at something completely different.

Like I said, all of this is information we have known, yet tonight, it is tearing my heart apart.  I'm not sure if it is just getting closer, if it is realizing no matter how normal we get to be for just a moment, Cole is still sick, or the mention of the difficult decisions ahead that got me tonight.  Maybe it was a combination.  I'm praying for a miracle. Praying somewhere, somehow, this is not right, that my little boy will not have to endure more than he already has, that the Crohns is the only cross he will have to bear.  Please help me with my Christmas wish.  Share his story, please help us get more prayers for answers and maybe even a miracle.

That is all I want this Christmas.  That and maybe a trip to med school so I can start searching for the answers myself and fix all of this for my beautiful boy.

Monday

Just got word one of our doctors that needs to look at the genetic explanation/information from Cincinnati is out of town until Monday, so no news or plan until at least Monday.

Crossed

Still waiting for the update from our doctor.

When you're a parent waiting for news it is frustrating to be told you will hear in two days and be going on a week.  

I know it all takes time, and this situation is complex, but we have now spent years waiting.  In some ways, it is ok because it means for years, our precious boy has been getting through all of this one day at a time.  On the other hand, I am beyond ready for answers so we know if he can go to pre-k next year or not.  He is growing up and some things cannot be put on hold indefinitely.

Fingers crossed we get a call today or tomorrow.  Not that we will have answers, but we will know which tests we are facing.  At least if they decide before his infusion next week we can do all the blood draws then, which is a plus for sure!

Project Gratitude

One year ago, I was in a position I never imagined I'd experience in my youth.

My uc had begun to flare out of control.  I seriously thought it was a terrible flu, not my uc. Two days after spending a great night out with friends celebrating my birthday, unbearable pain set in. At this point I didn't run to the doctor's office like I thought I would the night before, I was desperate by morning, and demanded to go to the er once the girls went to school.

That was the beginning of a long hospital stay and an even longer recovery.  There were points I truly didn't believe I was going to get better.

 The sedation for the pain left me cloudy, often just barely able to function through basic tasks.  Weakened, I struggled to walk short distances and stairs were non-negotiable.

Hospital doctors and nurses saved my life last year.  Even when my surgeon teased me about not cutting me open just yet, maybe the next day, I knew they were doing everything they could to help me, yet was also well awake of just how dire my situation was.

Despite the hurdles we had crossed before this point, Nick and I were to be tested again, pushed beyond limits we thought we could endure.  Without Nick, I would not have been able to recover, nor could our children have thrived through such a frightening circumstance.  As things started to look up, doctors told us just how fortunate I was, there was a possibility I may have needed much more intervention or may not have pulled through.

While I have struggled through many of set backs on our journey, this was a challenge I never expected.  People in their mid thirties should never be as ill as I was, they should be vibrant, full of strength.  I was neither.  Luckily, Nick and I had some outstanding individuals there ready to support us in any way possible.

It is these people I have spent many hours thinking about, many hours wondering just how to thank them, for in their own ways, they too saved us last year.  Then I thought, well, wow, there are so many people I have been blessed to know, whether our paths crossed for a moment or for eternity.  I wonder if these individuals realize just how much they have touched my life or brightened a dark day.

While I think often of these people, I've often wondered if I've shown them enough thanks, or if I've been so tangled in our obstacles that I've neglected to share my appreciation. It is these thoughts that lead me to a little project, one purely or gratitude.  Project Gratitude is just another little blog, one where I can take a minute to recognize those I am truly grateful for and share the amazing ways these individuals have made a difference in our little world. Order of entries are just as I'm inspired to write.  I'm planning to share a few moments of gratitude with you each week throughout the next year.  To me, a heartfelt letter or note is the best gift any one can give me, for words that pour out of the heart are as real as it gets., not something Hallmark can emulate.  To those of you who have never wavered, no matter what, there are no words rich enough to measure the depth of our appreciation, but I will.try.

Basics

So last week we did get a bit more news from Cole's immunologist.

Although it was news, it didn't really give us any more to go on or additional pieces of the puzzle.

Our local physicians have heard back from the experts in Cincinnati.  She even forwarded the very technical response to us to read, even though she herself was consulting Cole's local genetic team to ask for further clarification of what was being explained.

While I don't really grasp it all, there are a few basics I do understand.

The test we had been waiting for this summer, the one that the lab did not run as they felt it would not provide any information we would need, might in fact be important to run.  If this is the case we will have the blood drawn as soon as possible.

There are some other panels that it seems might be able to be run to determine the fhl diagnosis or probability.  Again, if these panels are able to give physicians a new piece of the puzzle we've been trying to understand for the past three years, I'm all for it.

Really, the rest was rather technical.

Still, in my mind, the more questions that are asked and the more people trying to solve this mystery the better.  It could be that one set of fresh eyes that gives everyone else a new perspective.

I hope to have more to share soon.  I am just grateful for all the doctors who keep looking and trying to make sense of all of this.

Strong

Over the past few years people have told me I am strong.

Not to question anyone's opinions, but once the house is tucked, covered in thick slumber I wonder.  Each and every parent I know would be just as "strong" for their kids if they needed to be.  What parent wouldn't move the world for their kids? How does merely doing what is best for my kids make me strong?  To me, it just makes me like any other parent out there.

Here's the thing, I'm not strong, I'm a mom, but I see strength each and every day.

 Cole is strong each time he gulps another syringe of the slticky white and pink meds he hates.  Cole is strong each day we walk into his infusion room.  Cole is strong as he asks the nurses for no needles yet he sticks his arm out knowing he needs them.  Cole is strong each time his sisters walk out the door for something he cannot be a part of.

My girls are also strong, both have defended friends who have been bullied and been themselves when it could have been easier to follow the crowd.  My girls are strong when even at 7 and 9, wise beyond their years, they can accept difficult sacrifices and understand certain things are better for Cole.

Each of my kids show me incredible strength, and for that, I am proud.  As a parent, I only wish for their strengths to continue to grow and thrive.  As for me, I'm merely surviving each day of parenthood with my husband, clawing our ways out of the bad days, cherishing each moment of sweetness, and being there for our kids each step of the way.  None of it makes us strong, it merely makes us parents trying to do the best we can for the three people we both love more than anything else in this world.

Letter to My Daughter

Babyish.

By definition to be babyish is to behave in an infantile way.  

Babyish.

When used as an adjective by one peer to describe another is piercing.

For the past day this word has festered in my head after one of my daughters was telling me why a few girls were suddenly not speaking to her.  She said they had called her babyish but really didn't understand why.  As a parent, there is a point when you cannot shelter your kids from the world, merely explain that there are times people say things they don't mean and there are times they might say things to be hurtful.  For a tween to figure out the difference, that's the challenge, just as it is for many adults.  

In the black and white world my daughter lives in there is right and wrong, fair and unfair, no in between, which let me tell you can be a challenge as she tries desperately to fit in and make friends.  In many ways I wish she could read Queen Bees and Wannabes and be able to look at the situations that may arise as she gets older with a different perspective, yet even now she refuses to believe that friends can really say things to be hurtful ever.  Even when it was clear from the horse's mouth the statement was uttered, she has refused to believe it.  It breaks my heart that my sensitive kiddo, the one always thinking of others will have such a difficult road to navigate as she approaches middle school, in addition to everything she worries about with her brother.  

All last night into today, this has been nagging at me.  I am sure there are other parents with other girls in our boat.  So here is my response in my journal to her.

Letter to My Daughter:

Dear __________,

Thank you for feeling you could come and talk to me about what has been bothering you.  I know sometimes it is hard to talk about something that is making you upset or sad and is very personal.  Growing up isn't always easy, and I wish I could keep you my little girl forever away from anything that would hurt you.  Know I am always here to listen and help you, even though I may not have the answers you are looking for.

Friendship is a beautiful gift between people.  Having friends you can have fun with is great, but what is even more precious is having friends who love you for who you are and will be there for you when you need them. These friends are sometimes hard to find, but when you do, you will know it.  These friends will not be mean to you or talk badly about you to other people, in fact, these people will stick up for you when you are not there because they are your friend.  Pretty cool, right?

What is hard about being young is that friendships can be confusing.  One minute you think someone is your friend and the next they have shared the secret you just told them, or they stop talking to you for no reason or when other people are around.  I know it doesn't make sense, but can I tell you something?  Almost every girl your age has gone through this, and as a mom watching, it stinks.  I remember going through this myself when I was younger, not that knowing that changes what you are feeling, but I can tell you it does get better and you know what?  I found some really amazing, true friends.

So what do you do now? 

First, be yourself and be proud of who you are.  If you still like the Little Mermaid, so what?  I am 36 and still LOVE Beauty and the Beast...there is nothing wrong with that!  You don't have to follow the crowd to be liked, in fact, the only person you need to like you is YOU.  Your dad and I will always love you, anything you choose to pursue, do for you alone, not because someone else thinks you should or wants you to.

Secondly, be a good friend.  I know you are, but be kind and treat others the way you want to be treated.  Be there for your friend all the time, but especially when they are sad, sick, or being bullied.  If someone is not kind to you, maybe they are not someone you should be friends with.  A friend cares about YOU.  Not what toys you have, but you as a person.  You should care about your friends.  Listening to you wanting to call or make pictures for your friends who are sick and sharing everything you have shows me you know how to be a good friend.  You have a huge heart and are very good at showing it!  I see it every day.

The most important thing I want you to realize is that you are a treasure.  Yes, YOU.  Your kindness and generosity surpass what I have seen in many people, you see the goodness in everything and are easy to forgive those who have hurt you.  The people you choose to be your forever friends will be very lucky to have found you, a diamond in the rough.  If they can't see past your shyness, your likes, the way your room is decorated, or what your dad and I think you are too young for (cell phones) then they are the ones losing.

In the end, you get to pick your friends and let me tell you, when you pick the good ones, having them around is the best thing in the world.  Sometimes it takes a little time to find them, but they are worth the wait and better than anything money can buy!  It isn't about having a lot of friends that counts, having a few true, real friends is all you need.

I love you honey. And like yesterday, if it is a tough day, I will listen, I will hug you, and will always be there for you.

Love,
Mom

PS: Don't grow up too fast, I wish I could be a kid again for a little bit...enjoy it! 

Deep Remission

So Cole has had his scope and yesterday we got the news that his biopsies show he is in DEEP REMISSION!

His gi doctors told us that we are doing a great job with him, which was something I needed to hear because there are many days that I have felt almost helpless, not being able to take this away.

While we are still waiting for some kind of news regarding what the next step with his immunodeficiency will be, we are so thankful for where we are right now.  There are still many limitations, but to see him, he is perfect, all of these diagnoses just seem unreal.

Two years ago, when faced with the choice of remicade or surgery for Cole, I feared for his future.  Never did I imagine after his hospitalizations and difficulty to thrive for so long that he would catch up to be right where he should be.  We are so grateful that our prayers have been answered and he is doing so well.

Until we have news from his immunological team we continue the remicade therapy every eight weeks and wait for the next step.  His gi physicians are continuing to reach out to other professionals, sharing Cole's story and discussing the latest research with early onset ibd and the best long term treatments.  So thankful for their diligence and constant support for Cole.  While they applaud us, without them,he would not be doing nearly as well as he is, which is truly all that matters.

Come What May

There are times I wish I had more to update, and there are times I wish I knew just where to start.  For now, it will just be where I left off.

Earlier this summer we agreed to have some further genetic testing completed.  While it was expensive and considered elective, doctors still felt it would give us a clearer picture of the stxbp2 mutation sites and its relation to the likelihood of Cole developing HLH.  Sadly, once the lab received the blood and initial results from the exome sequencing completed at Baylor they realized they could not run the test at all.  Basically, Cole's mutations are found in the silent region of the code, which their test can not detect.  While our physicians still believe further testing is necessary, they are currently discussing the possibilities with leading doctors at Cincinnati Children's to determine what testing they are able to offer.  At the same time, Baylor is repeating exome sequencing and comparing results to this year's genome database.  Bottom line for us, more waiting.

In the meantime, we've continued to stay busy.  Lots of hikes and swimming this summer. The kids have found a love of geocaching, and have been lucky to be with friends who have tools to treasure hunt.  It's nice to have a new spin to our favorite hikes once on a while! We were also lucky enough to be able to go camping in the mountains, which was a much needed change of scenery for all of us.  There is nothing like being disconnected by choice  surrounded by water, trees, and wildlife to soothe my soul and reconnect with each other.  Beautiful week together as a family, sprinkled with visits from some family and friends.

After a night of very little sleep we decided to come home.  Cole had an ear infection that quickly developed into a double ear infection, pink eye, and terrible cough and cold.  We just got his ears under control, medication finished when the oozing started all over again this morning.  In addition, even with his chest xray coming back clear for pneumonia last week we have been told he has reactive airway, possibly asthma.  He received a nebulizer treatment today and I hope it means he is not up coughing half of the night. While I don't want yet another issue for my Bean, it would be nice to have a better explanation for the few times we've been sent to the hospital for his coughing up blood.  They have talked about reactive airway a few times already, but have been watching to see if anything changed.  We will see what the new specialist has to say when we see him later this month.

Besides a sick visit we also spend a few hours with Cole's gi doctors today.  The good news is that they are generally happy with his progress.  While he has had signs of flaring close to infusion time, for the most part they feel he has been staying in remission.  There is concern once again about his weight.  He has not been gaining at a rate they expect.  This could indicate his body is not absorbing all his nutrients.  We have until his next visit to get him gaining with just diet before they start supplements again.  The problem is, he hates the different drinks they had us try in the past, so I'm hoping by pushing Greek yogurt dips, and other high protein snacks we can help him put a little bit more meat on his bones.  Personally I think this kid just runs so much he can't keep it on - he ate two Turkey sandwiches, an apple, and cheese cubes for lunch yesterday! I don't see why he isn't gaining more.  But we will keep trying.

We also have to get him scheduled for a colonoscopy.  While I knew it was coming, I'm dreading this. I hate the prep for myself, and the last time Cole needed one he was just over a year old.  Logically explaining to a three year old that they must drink this terrible liquid and that they can't eat what they want is not going to be a picnic.  Distracting him by going for a walk isn't an option either because he will need a bathroom.  I think we may need the big guns, maybe even Spiderman.  This is something I wish I could do for him, breaks my heart to know he has to do it, but the only way to see the progression of his disease is to scope him, so the sooner the better.

In a nutshell, so much ahead, and so much waiting at the same time.  For now, we are back to one day at a time, and one night at a time.  Some days we have a blast playing outside others he just wants to snuggle in the chair.  I'll take my cues from him each day. We're both loving our at home mini lessons on letters, shapes, and the neighborhood, so for now we will focus on the fun and let the rest of this come as it may.

New Testing

Another busy one next week.  We have Cole's infusion but are also supposed to see genetics.  

Yesterday we spoke with Cole's immunologist, the genetic counselor felt as we've already discussed the HLH at length with immunology, there wasn't much more to add with a session.  Hopefully this means the sample for the test can be drawn at the same time as his routine labs before his infusion starts.  The less Cole is a pin cushion, the better!

This test should only take around four weeks for results.  Even though we have the first exome sequencing results, this test will provide a better look at the STXBP2 coding, which is the primary gene the physicians are concerned about.  While the test is expensive, it ultimately can change the course of where we are headed.  If it is decided that yes, HLH is a certain risk, we will be immediately referred to Cincinnati Children's to meet with the HLH experts and develop a plan of action.  If it is determined HLH is unlikely, Cole's team of physicians can focus on other roots of his nk cell issues.  If we decided to wait on this test, in the event of an HLH episode, the timeliness of moving forward could be devastating as we waited for a plan to be put in place.

To us the choice was obvious, do the test.  The wheels for this one will be in motion in just a few days.  Not by any means do I want to wish away summer, but my nervous excitement cannot wait for the beginning of September, by then we will have another piece of the puzzle.  That is priceless.

Just Get Over It

Sometimes letting go is easier said than done.

People have told us point blank to get over it.

How do you just "get over" the idea that your child has been given various diagnoses that may dictate their very existence? How do you just let go of the adventures and dreams you have for them? How do you abandon all that you've been growing and cultivating before this point?  How do you let go of what you cannot change?

Even now, a few years in, I can't answer these questions nor can I tell you I've been able to "let it go" or "just get over" most of this.  Although, I've certainly overcome and let go because of the past few years.

Fear used to consume me.  I was often afraid of not being good enough, not meeting expectations others set, not reaching the bar, ultimately terrified I was failing.  Was I a successful teacher? What if I wasn't doing well enough for my students?  Did other people have a good opinion of me? Was I raising my kids the right way?

I was constantly worried about so many external variables, I pushed myself to do what others wanted from me.  To meet their expectations, to be what I thought was successful, I often gave more of myself to others than to myself, which I lost.

Cole's journey has taken me beyond this, to a place of release in some ways.  Despite
the deep ache I still feel when I drive by my old school or the sheer sadness when our Bean is accessorizing with wires and ivs, I'm over so much.

I've found the confidence to stop worrying about failure so much, in fact I've even sent some queries and am about to pitch a non-profit idea at a meeting next week.  By saying yes to situations I've been avoiding because I worried about a million questions or what people thought about our choices with Cole I've found so much richness and support in the friendships I'd been missing.  In addition, I've been much more attuned to the little things in life and the true colors of those around us.  Finding those who truly care for us has been just as eye opening and unexpected as learning who suddenly treated us as if we had the plague.  I'm over their issues with our situation, and know now not to take it so personally, it's their problem, not ours.

As time passes, I don't know if I will ever just get over things or let anything else go.   But I can tell you, that I now know, the puzzle pieces I left behind, permanently attached in some cases, are just as important to the pieces I can pick up to carry with me.  Realizing which was which has been liberating, honestly the best lesson continue to learn in all of this.  I'm so grateful to those of you who have shown me this past year what I seemed to be blind to.

Leap

In the midst of our journey, I have had a nagging in the back of my head, a foundation I would like to start, run, and make a difference for parents and caregivers like us.

I know little about beginning a non-profit foundation, nor do I have my own start up funds, but I know about helping people.

While I've had a couple contacts for a while, I finally took a leap, with the faith that my idea wasn't all that insane, and sent out my proposal last night.  I'm looking forward to feedback from these individuals as well as direction to make this thing take flight.

Rare

Life has gone on since our genome sequencing results.  We've been back into our outdoor routines, walks in the parks, annual fishing derbies, and waiting for the next call.

Today we had our three month gi check up.  Honestly, it couldn't have gone better.  Cole continues to remain in remission from his Crohns, so the remicade is doing its job.  He has been able to keep his weight stable and on the growth charts while his height keep exploding.  With any luck, he may be taller than me before he turns five!

In terms of his blood work from a gi standpoint, it was once again, the best they have seen it.  Cole truly is thriving.  For now, all of his gi treatments will remain as they have been, since the combination is working for him.

Just like our last sit down with immunology, we have been reminded that Cole is quite rare.  Not just the genetic abnormalities, just the various diagnoses he has been given are not handed out like candy on Halloween.  Even with such great progress, it seems we always have to remember what else Cole is facing, not that we would ever forget, we live our lives around his well being.  Still, I think of his rare as a gift, for that is what he has been to this family, a gift of light in so many ways, one with a glimmer few others are lucky enough to see.
 

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.

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.

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!

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?

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.  :)