Wednesday, December 28, 2011

Mysterious Petechiae

Well, I got Spencer into the doctor yesterday and he has Palantine Petechiae.  I had never in my life heard of that but as soon as the PA looked in his throat, he knew what it was.  Spencer's platelets checked out normal thank goodness.  The PA said that Palantine Petechiae usually preceeds a big bacterial infection like Strep throat or Mono.  We started antibiotics yesterday but he is not feeling great.  He tried to go snow boarding today but ended up coming home after lunch. 

Upon further reading, the petechiae usually starts 3 days before the onset of symptoms.  I am pretty surprised we have never experienced this before. It amazes how many new things we learn each day about this disease. 

Hopefully, the antibiotics will cover anything that could crop up.
Palatine Petechiae photo from

Monday, December 26, 2011


The last few weeks have been sketchy as far as the kids' health is concerned.  I was glad that I could send them off to their dad's in relatively good shape.  Shelbie was still yawning chronically and nauseated more than not but no new symptoms, until today of course, Christmas Day!  We almost made it through Christmas without any problems!

Sam was doing well and other than some frost bite and wind burn on Spencer's nose from snowboarding a couple of days ago, he was okay too, until today of course! 

When the kids were here, Shelbie couldn't stop belching.  I'm talking about loud, obnoxious belching.  It's been happening all day and continues tonight.  In 19 years, I don't recall ever hearing her belch or burp really.  Maybe once or twice but today, she was doing it every few seconds just like the hiccups only it wasn't hiccups.  Even the boys were not impressed and you know boys, they think any bodily noise is hilarious.  Spencer said, "Mom, make her stop!  It's not cool for girls to burp." The sad thing was, she wasn't doing it on purpose and couldn't control it.  I googled that and once again, an ulcer came up as the possible problem.  That was also a possible problem for the yawning along with cranial nerve damage.  Tomorrow, we are off to the doctors, if they are open. 

Then Spencer blew his nose while he was here and the scabs on the end of his nose from frostbite broke open and were pouring blood.  We kept pressure on it for several minutes but it would not let up.  We put a bandaid over it and it bled through the bandaid.  It was horrible.  When they had to leave, it was still bleeding.  A few minutes later, I got a picture text from Shelbie of Spencer.  His mouth is covered in petechiae and purpura!  OMG!!  I am praying his platelets haven't tanked.  Surely he is not going down the same road as Shelbie.  I cried for a few minutes because the 'what if' thoughts were beginning to overwhelm me but then I decided to be brave and wait until we can get a CBC before I freak out.  Maybe it's nothing.  I'm hoping for nothing! Please let it be nothing.  I can not handle two kids getting IVIG!

Thursday, December 22, 2011

Compassionate Care

Yesterday, I got a disturbing call from an Administrator at the hospital.  They had received a report that one of the nurses we had for Shelbie's infusion had started crying and that I slipped Shelbie something that had not been approved by the Physician. 

I was surprised that she was going here.  Our conversation lasted well over a half hour as I explained to her that yes, indeed a nurse we had a month ago, cried when she couldn't get the IV started after 3 tries and took her even 7 tries before she got it.  We had a nurse last week who also cried when she couldn't find a vein on the first try.  She left the room and sent in someone else to try.  Apparently another co-worker had filed a complaint against them. 

The Administrator was all over the place apologizing that they did not act professional.  I interrupted and said, "Hey, wait a minute.  We were not mad, we weren't even mildly annoyed in fact, both Shelbie and I were crying too!  It was a moment when we truly felt taken care of, like we actually mattered to them rather than being just another annoying patient with stupid complaints.  I loved those two nurses for being human, caring, loving and doing their job to take care of my daughter.  It was a tender moment." 
"Well, it's unacceptable for a nurse to not be able to get an IV started after one try." The Administator retorted. 
"Shelbie has become an impossible stick.  Two years of chemo therapy have all but destroyed her once plump, big veins.  Add to that weekly blood tests, monthly infusions, there is hardly a place left for nurses to find a vein not filled with scar tissue.  Until we get a central line, it is going to be hard.  Shelbie knows that and is prepared for the challenge that comes with starting an IV.  Please don't discipline these nurses! They did nothing wrong and are probably the best nurses in that hospital!"

The other problem was that Shelbie had such horrible reactions this past infusion and it took the Doctor's office over 2 hours to get the orders faxed up for a medication that would help the horrible side effects. They had to stop the infusion because Shelbie was so sick.  The order was suppose to have been for a controlled substance so the hospital needed the doctor to come up and hand deliver the orders, or they needed to find a doctor already in the hospital willing to over-write the faxed orders for Shelbie.   After an hour and a half, I asked the nurse what the hold up was and she explained that she had called the office more than three times and still hadn't received a response from the doctor.  I asked what medication they were going to give her and it was Ativan.  I knew I had a couple of Ativan left from when Shelbie had chemo earlier this year so I ran home to get what we had left. 

When I got back to the hospital, I told the nurse I had Ativan and was giving it to Shelbie.  I was not going to continue to watch Shelbie suffer and a doctor's office drag their feet.  Once it took effect, the pain and nausea subsided and she was able to get through the rest of the transfusion.  I was pretty frustrated with the red tape but didn't lose my temper or get angry at anyone,  I simply took matters into my own hands to resolve the problem. I am still a little miffed at the doctor's office staff for not getting their act together but we've become accustomed to this kind of nonsense with them.  

To make a long story short, I got in trouble for doing that.  I told the Administrator that I am not just going to stand by and wait for medical staff to get their act together.  I can be patient to a point but they weren't the ones sitting there, helpless, listening to her say over and over that she just can't go on living!  That's crazy and unacceptable.  I'm not scared of the hospital, if they can't take care of my kids effectively, I will have to do it myself.

The most annoying reality to me is that a nurse could lose her job over being so kind, so human!  What is this world coming to?  Have we seriously lost that human touch, the ability to genuinely care for one another? We have to walk around numbing ourselves the to suffering of others?  Ridiculous.  Sad. They better figure things out because things are not getting any easier and Shelbie is signed up for another year of transfusions and possibly more chemo.  Blech.

Tuesday, December 20, 2011

I gotta be honest...

I am looking towards the new year with a hint of trepidation and worry.  I know, it should be a time of hope and new beginnings.  I guess this year has just about drowned me and the effort it has taken to stay above the turmoil has been great. 

I am a little scared about what we will find in the coming year.  Yesterday, Spencer came home complaining that his arms were numb all day.  I just shake my head anymore and hope it goes away because lately, our doctors have been less than helpful.  I don't know what to do about numb arms.   Shelbie continues to yawn and feel nauseated all day, every day.  She is still weak and exhausted.  Sam is hanging in there, thank goodness! 

It is just so hard to watch my kids suffer so much at times.  It is often more than I think I can bear.  Sometimes, running away seems like a great idea but I would probably get no further than the mailbox and turn back.  They can't run away from this disease so I shouldn't be able to either.  Everytime they open their mouth to proclaim a new symptom, a body part not working properly, a part of me dies. I can't imagine another year of this, always wondering if the problem is going to go away or if we should prepare for the worst, when to see a doctor and when to wait it out.  It's a crazy-making process, one I'm still not use to even after all these years. 


Sunday, December 18, 2011

The Weird and Wacky

Do you believe that history repeats itself?  I'm not sure but this week as I have been nursing Shelbie back to health, I recognized a new symptom.  Well, I guess it's an old symptom that has been gone for years but suddenly showed up again and boy, is it weird and wacky! 

Yawning.  Yep, chronic yawning.  She even yawns when she is sleeping. The yawning is continuous at times.  When it's happening, she is nauseated, dizzy and jittery.  When it first started earlier in the week, I didn't think much of it until yesterday when the yawning and nausea were out of control.  I gave her Zofran for the nausea but we just couldn't get ahead of it.  Heart palpitations started too.  Last night, I realized that this was the same thing Shelbie dealt with years ago from ages 6-10 off and on.  She would get so panicked when it happened saying that she felt like she couldn't breathe.  For the life of me, I can't remember what we did to fix it back then.  Actually, I don't think I did anything back then and it disappeared just as mysteriously as it came. 

Last night, I was a little worried that such a strange symptom was back.  I really hope it doesn't last 4 years like last time.  Back then, I didn't have the Google know how I have now so I did a search on 'chronic yawning'.  It can actually be a serious thing  and a sign of stuff like heart problems or guess what else...that dang cranial nerve!  Sound familiar?  Spencer has cranial nerve problems so do you think this is just some weird coincidence or something bigger brewing?  Hard to say but regardless, I will be watching her like a hawk.  All this week, I've been getting up in the night to check on her, make sure she is still breathing and what not.  It's pitch dark but I stand over her bed and try to hear her breathing and watch her by the faint light from the street lamp outside.  One time, she happened to be awake and after a few minutes, scared me by saying, "What are you doing?"  It was kind of funny but you had to be there.   

When Shelbie went to bed last night, she was really frustrated with her yawning and said, "Hey mom, next time you talk to one of our invisible doctors, maybe mention that I can't stop yawning and see if maybe they want to do something about it."  It was totally sarcastic but full of truth.  No matter how many voice messages and emails I have sent our doctors, multiple doctors, none of them have bothered to get back to me on Spencer.  It's like they fired us as their patients and that feels really weird to just be hanging out here without any support.

This afternoon, Shelbie is finally starting to see the light of day as Meningitis is starting to subside from her infusion.  This has been a rough infusion!  The day of was miserable and breakdown in communication between the hospital and the doctor's office left her over 2 hours without any relief from the extreme pain she was in. I finally bypassed all of them and came home to get some medication we had here.  The nurse wasn't thrilled that I gave it to her without checking first but I didn't care.  It was the same medication we were waiting on the doctor for. It was a horrible sight to watch her thrashing around on the bed.  Once we got the right medication on board, things settled down a bit and she was able to sleep for a couple of hours. The whole ordeal lasted longer too, 10 hours because they had to keep stopping it so she could get on top of the pain and nausea.  The last two months have gone so well so this sort of caught us off guard.  

Thursday, December 15, 2011

Happy Anniversary

Today is Shelbie's last IVIG infusion for 2011.  It's hard to believe that we have been at this for just over a year.  Each month, it gets harder and harder for them to find a vein.  Today was just as hard.  It took two nurses numerous times before they could get the IV started.  I am hoping we can avoid a central line but her veins are so scarred and chemo therapy changed the size of them it may be our last resort.  I am glad that they got her in today.  She has been sick since last Saturday and really sick over the past 24 hours.  I was afraid I was going to have to take her up to the ER last night so this infusion is actually a relief of sorts.

January, we will start off the new year with another infusion and a new deductible.  Oh Joy!

So, getting to my point of this post, this week marks the 12th anniversary that my kids were diagnosed with Shwachman Diamond Syndrome. Not a 'happy' anniversary, just an anniversary. No matter how long I live, I will never forget that day. I can still hear the doctor, his words; bone marrow failure, transplant, the statistics he threw around like a ping pong ball. They bounced off my already numb mind.  The words felt so real and cutting yet distant and impossible at the same time.  I remember telling myself, "That happens to other people, it won't happen to us.  We have a mild version of this disease."

As time marched on and I became 'comfortable' with our new routine of medicines, blood tests every few weeks and fevers of unknown origin, we found our new groove and I thought, "This is going to be okay."  For some reason, I never thought they would get any sicker than they were 12 years ago and as long as I could manage that, I would always be able to manage this disease.  I don't know where those naive thoughts came from but I was sorely mistaken. 

Now, I wonder how much longer I will be able to have the patience, knowledge and resources needed to continue to take care of them. This year has taken its toll on me in so many unmentionable ways.  Everyday seems a little harder.  New symptoms are cropping up on a weekly basis.  It's hard and mostly overwhelming.

Regardless of the struggle, we hang in there.  Sometimes, like old Humpty Dumpty, we fall, the King's horses and all his men come rushing in, patch us together and set us back on the wall.   


Tuesday, December 13, 2011

Rocco Baldelli

Have you heard about the Major League baseball player named Rocco Baldelli?  You can read about his story by following this link.
Baldelli is a now, 29 year old with Mitochondrial Disease.  His story caught my attention on many levels.  I think the article is well written.  I hear lots of stories about kids dying from Mitochondrial disease but rarely do I read a story about someone living out their dream.  It's not been easy for Rocco and he has had to retire because of his health problems but what a great example he is of someone who didn't give up living. The multiple injuries he has sustained rang a bell for me as I think about my kids.  Spencer has had so many breaks that were a result of something so simple as kicking a soccer ball.  Sam, most recently rolled his ankles while running and he still has a hard time walking, even two weeks later.  They are easily injured and slow to heal.

The article does a good job of explaining how debilitating some days can be and how normal others are.  That's exactly what we face on a day to day basis.  We can't predict when a bad day will happen but when it does, it's clearly a bad day.  The fatigue is overwhelming.  The weakness, nausea and pain can overcome even the strongest person.  Spencer is just now recovering from his long setback with the steroids and then the mito crash. 

Rocco Baldelli gives me hope.  I know that he doesn't have a serious form of mitochondrial disease right now but I appreciate that he is trying to educate people more about the disease that is so often misunderstood.  I am living and witnessing three kids with some form of the disease and some days, even I still don't get it.  It is a disease that even doctors are still becoming familiar with. Thanks Rocco for making the world familiar with Mitochondrial disease.  I have had so many people come up to me this week to tell me they just heard about a baseball player with the same disease my kids have.  That's impressive.

Saturday, December 10, 2011

The Butterfly Guild

I have some fabulous friends in Seattle.  We only met last year but have quickly become super good friends.  We email each other a couple of times a week.  Just over a year ago, they started a non profit organization called The Butterfly Guild and is associated with Seattle Children's Hospital. They raise money for Shwachman Diamond Syndrome Research.   We have been able to get involved a little bit to help in the fundraising and do some other things for the big dinner and auction they have annually.   For 2012, the dinner is happening on January 21.  If you would like more information or would like to donate to help this cause, check out their website HERE.     They have been working hard all year to plan this event. 
I have been helping with the fundraising cause though I have discovered that it is not my strength and they are way better at it than I.  However, I have been able to help with some of the decorations even though we live so far away.  Today, I made 250 place cards for the upcoming dinner.  I had a friend who helped me out by cutting out the butterflies on her Cricket machine.  I love how they turned out.  The quote on the card says, "Whisper a wish to a butterfly and it will fly up to Heaven and make it come true."
It would be nice if I could be there but that probably won't be possible this time.  Maybe in 2013. I am really proud of them and the work they are doing to move the research in a positive direction.    


Friday, December 9, 2011

On our own

Just a quick update, Spencer did okay snowboarding last weekend.  He was so excited to tell me that he reached speeds of 49.6 mph coming off the mountain.  Oh joy! I tried my best to be happy for him and I hope it was convincing but inside I felt sick.  He feels so accomplished I know I can't squelch that, especially after the year he's had.  It's been tough.  It is tough.  The fallout of that day did indeed come but not as bad as I thought it would be.  He is doing okay and for that I am glad. 

This week has been hard.  I felt more alone in dealing with the kids' problems than ever. I hate the feeling of being on my own in the care of my kids.  It's getting really complex and I feel overwhelmed most of the time.  Only one doctor ever emailed me back and that was our GI.  He suggested that possibly, Spencer had Botulism but after reading about that, I knew he didn't have that.  It's a mystery what caused such a dramatic change in him for nearly three weeks but I have my theories and ideas. 

So, according to me, since our doctors didn't bother getting back to me, I think the steroids were just too much for Spencer's system.  In addition to that, it caused a mito crash.  As I talk to other mito moms, what happened to Spencer has happened to other mito kids so in my mind, that's what the deal was.

It has been extremely frustrating to deal with these issues and have no support in place.  I am going to push for the muscle biopsy with our next bone marrow biopsies which are suppose to take place in January but I may try to push that to later in the Spring.  I'm just not ready for a winter drive to Seattle and so far, their blood counts seem stable.  Of course, if our Oncologist thinks it's best to come in January, we will. 

Shelbie will get her infusion next week so that she will be well for Christmas.  At least that's the plan. 

Sam has had a bad week.  He tweaked his back doing gymnastics and then in gym class, he rolled both his ankles.   He's been on anti inflammatory medicine all week long, ice packs and heat and we have to keep them wrapped.  If those don't improve by early next week, we will do xrays and try to figure out what is going on.  It seems weird to me that he would roll both ankles more than once. 

Things have been relatively quiet on the medical front.  Hoping we have a couple more weeks of calm. 

Saturday, December 3, 2011

He's back, almost.

Yesterday, for the first time in over two weeks, I saw a glimmer of my old Spencer coming back!  I still haven't heard from any doctor about what to do to help him.  I'm bugged about it.  I wonder if doctors really know what parents of sick children feel like?  Do they know how helpless and terrifying this can feel?  Do they know what it feels like to hear your child say, "Do something!  Help me!  I think I am dying!"  I wonder if they really care or if an email entitled "Help" is just a signal to move on to other things.  Maybe they have way more important things to do, sicker kids to care for and of course, they do have families and I get that but it still feels very isolating when there is NO ONE to turn to.  I could take him to our regular doctor but they have already told me that problems like this are way out of their league. Our Oncologist emailed back and said he was on vacation.  I totally respect that but I can't help but feel a twinge of resentment because I'm not on vacation, I am sitting here watching my son deteriorate before my eyes.  I can't remember the last time I had a vacation.  A time when I could vacate all the worry, stress, illness....I guess it's more about me than it is about them. 

   Our GI did get back to me, he said it could be botulism.  I read about that but it sounds way off and he would be way sicker if it was that so I'm not even going to pursue that avenue.  Yesterday, his energy had improved a lot.  He still had problems with his tremor, nausea and pain but he could move.  The nausea passed after a few hours and so did the pain. 

    Today, he is going to try to go Snowboarding up at Targhee.  I am not happy about that!  NOT at all!  I want him home sitting on the couch, conserving his energy!  Even the healthy version of Spencer can not manage a full day of snowboarding.  In the past, he gets sick every time because of the exertion.  He spends two days completely drained.  I'm kind of anxious to see what happens and if he can even make it through a full day on the slopes!  In all my anxiety over his activities today, I know that he needs this fun time.  He needs to hang with his friends and he needs to do something that makes him happy.  Feeling so horrible for so long has taken a toll on him emotionally, not just physically.

    There is no doubt in my mind that this boy has mitochondrial disease. 

Wednesday, November 30, 2011

I have been avoiding this blog not because I am too busy but because I have been overwhelmed with what has been happening.  Spencer continues to struggle.  Struggle in ways I have never seen him struggle before and it's been scary to watch. 

I am not even sure I can describe what is happening to him.  At times, it's like watching someone have a stroke or blowing up a balloon then letting it zip at a furious speed until deflated within seconds.  This is literally happening to Spencer.  One minute he seems okay, not great but okay and without warning, he is completely deflated, no energy whatsoever.  I don't mean he is just tired but can barely move his limbs, lift his head.  It can last a few hours.  Tuesday, it was scary.  So scary even Sam and Shelbie were in shock to watch him.  His eyes seem to glaze over and it's like he's gone, a switch of light flipped off. 

I have no idea what is happening.  I have emailed several of our doctors but have not received a reply yet.  He has also developed a tremor in his hands, at times he can't even hold a pencil.  Tonight, at dinner he said, "Mom, something bad is happening to me.  Something is really wrong.  I'm a little scared."  He continued to tell me that the night before last, he woke up and couldn't feel his legs.  He kept trying to move them but he couldn't move them, again, he was overcome with weakness. 

I have heard from other mito moms and this sounds similar to what some of their kids sometimes experience. They called it a 'Mito crash'.  I've also heard it called a 'Mito storm'.  It can last for days at a time and then as quickly and mysteriously as it showed up, can disappear and they recover...usually, that's the hope at least.  I had another mother tell me that this kind of thing happened when her mito son was on high doses of steroids.  The steroids actually break down the muscles.  Both are interesting thoughts, not what I want to hear.  There is no cure or treatment. Of course, all this is only coming from mito moms, not a doctor so it could all be way off base but it certainly sounds familiar when I hear these moms talk about their experiences.

He finished his steroids today!  Thank goodness!  I am praying that we start to see some improvements now that we are done with that evil drug!  If this truly is a mito crash...I am going to have to dig deep to find some peace about this.  The only other time I have felt this scared was the first time I gave CPR to Shelbie when she was just two years old. 

Friday, November 25, 2011


Yesterday, the kids and I watched a documentary called "A Day in the Life".  It was pretty random and consisted of just a bunch of random people and how they spend one Saturday in July.  It was both intriguing and boring but on Thanksgiving when half the family is sick, what else is there to do right?

Anyways, there was some guy talking about how he has battled cancer with his wife twice and won.  He said, "Nothing scares me anymore.  I am fearless."  Fearless?  What would life be like if you were fearless?  Does it take a showdown with death at high noon with tumble weed blowing by your rugged boots one dusty Saturday in the middle of a desolate, ghostly town?

I don't know but I can't get that thought out of my head.  I have had my own showdown or two with the threats of death or at least crippling disease and I am not fearless.  Two days ago, a good friend and her husband were in a head-on collision on the highway. Thankfully, their 10 children were not traveling with them. Both are in intensive care.  She broke and/or crushed multiple bones, head contusions, lacerated liver and the list goes on.  When she has completed numerous surgeries and months before she can take one little baby step, will she be fearless?

Sometimes, I feel like I have survived the hardest thing ever and nothing would shake my world.  Most times, I feel scared.  Always hyper alert for danger, trouble, freak accidents.  When my kids walk out the door, I sometimes can't get the worst case scenarios out of my mind.  I hope the day will come when I will have enough hope, enough faith, to say that I too am fearless.  Until then...I guess I will try to enjoy this white knuckle ride.  

Tuesday, November 22, 2011

Now what..

Well, the doctor was in bright and early this morning.  He has done a great job with Spencer and I really appreciate all the time he has put in to finding answers. 

The good news is that Spencer's brain scan for tumors, lesions or abnormalities in the lining of the nerve sheathing all came back normal!  Whew! That leaves the problem with his palate, disappearing gag reflex and throat pain more than likely mitochondrial or possibly autoimmune but the steroids haven't helped at all so that's not as likely.  So, we are back to no treatment, no cure.  Though it hasn't been confirmed by the Neurologist, it follows the pattern of mito problems.

The stomach and vomiting issues are another perplexing issue altogether.  The doctor said what Spencer has is not Gastroenteritis or 'stomach flu'.  He said that when his immuno compromised patients have to take high doses of steroids, it overwhelms their system and causes "malignant vomiting" which is what Spencer has been experiencing.  So the steroids, combined with the fact he ate 7 slices of jalapeno pizza without his pancreas medication just shredded his entire GI tract.  The doctor doesn't think things will resolve until he is done the run of steroids.  We still have 8 more days of steroids!!  Once we finish those, there will be more testing and more stuff to figure out how to get Spencer back on track with his health.  Shelbie has sort of taken the spotlight this year with her chronic immune problems but in the background, Spencer has been suffering just as much but in different ways.

I am bringing Spencer home today and we are armed with pain meds, anti nausea meds and hopefully the vomiting won't come back.  He is barely able to eat even a couple bites of toast without getting totally sick. 

The doctor reiterated the fact that kids' metabolic system is really not functioning well and whether that is all mitochondrial or some other genetic breakdown, it remains to be seen.  He had a big conference with an Internist and Radiologist yesterday and they all feel like bigger things are brewing...but what?  So, the mystery continues!

It's so hard to hear that!  It's so hard because I have to change my mindset.  I tend to wait before taking the kids to the doctor; keep hoping that things will resolve and then we end up in a crisis like we have this week!  It stinks.  It blows my mind.  You would think after 19 years of this, I would be a little further along the learning curve.  It's so hard to find a balance between, 'this will pass' and 'it's time for the hospital'. 

Now, my instinct is to go home, clorox my house and anyone who darkens my door!  I want to quiz anyone who comes around, make sure they aren't dragging germs along with them.  Basically, I'm all about keeping them in a bubble.  This week has just about done me in!  I know that is totally impossible and irrational but setbacks like this really make me feel crazy and out of control. I know it will pass but for now, I'm hyper alert!


Monday, November 21, 2011

The Beast of Chronic Illness

I wasn't quite expecting the whirlwind of crazy and insane we are caught up in.  I've been keeping an eye on Spencer's throat and palate and that alone has been a cause for worry. The prednisone has taken it's toll on him.  One thing I totally forgot about was the fact that prednisone can suppress the immune system drastically. 

Yesterday, Spencer started throwing up.  It went on every 30 min for nearly 9 hours.  Sometime in all that, he developed a really bad pain in his abdomen and a high fever.  We brought him in to the ER thinking maybe a little fluid and some IV anti nausea meds were in order.  Instead, we ended up with CT scans, chest xrays, morphine, lots of fluid because he was severely dehydrated and blood cultures.  This is not your typical gastroenteritis but what is it? 

Well, we are sort of dealing with two seperate beasts.  The throat/cranial nerve problem and the stomach issue.   Part of the stomach problem is that he had 7 slices of pizza covered with jalapenos late Saturday night.  He ate all that without taking his pancreatic enzymes.  It was just too much fat for his body to manage.  Spencer has chemotaxis of the white cells which means, he has plenty of white cells but they don't work very well, they don't move very fast to the source of infection so small, insignificant viruses we all deal with can get quickly out of hand.  The prednisone aggrevates his immune system and makes it even worse than it is. We are waiting for blood cultures still.

The second beast is the cranial nerve problem.  When our Oncologist came in this morning, he said he didn't want to wait for the prednisone to work or not.  He wants to know sooner than later if Spencer has lesions in his brain, as in Multiple Sclerosis or even tumors that are pressing on the cranial nerve.  If those tests come back normal, then it pretty much seals the deal for Mitochondrial disease.

Aside from being extremely tired in more ways than I even knew existed, I am not anxious about the results.  I think the stomach issues will resolve when the prednisone is out of his system.  Whatever the outcome of his neurological problems, we will deal with it as it comes.

So, those are the nuts and bolts of it all.  Of course, my thoughts are running much deeper than just the facts.   I will sort those out and save for another day.

Friday, November 18, 2011

It's Official

We got the official letter from Make A Wish on Wednesday and Spencer has passed all the requirements to be granted a wish!  The best part was seeing a smile creep across his face as he opened and read the letter.  It's been a long while since I saw my boy smile, a real smile. 

Now comes the arduous task of deciding on a wish.  There is no shortage of ideas and suggestions but I know Spencer and he is a deep thinker and will put alot of thought into the process.  He has to choose his top three wishes and then Make a Wish decides which one to grant him.

Think about what you would wish for?  It's so hard!  I have no idea what I would wish for.  It will be interesting to see what he decides.   Whatever it is, I just want him to be happy and be able to enjoy it. 

The steroids are taking a toll on him and it's hard to watch.  We are on the downside now and I was hoping there would be a change in his symptoms and pain but unfortunately, there is no change.  Still pain, still no gag reflex.  Still worried. 

For now, we are going to focus on the fun that Spencer has in store for him!

Wednesday, November 16, 2011

Prednisone Sucks!

I think I have uttered these words before but it's true, Prednisone sucks!  I think it's killing poor Spencer.  Not literally but the poor kid.  Sheesh!

Tonight his face was super flushed and his body temperature has dropped to only 95.6!  His face is getting swollen, his appetite is huge which is a problem!  A problem only because all the food I bought over three weeks ago on my last grocery store run was food that is to make things from scratch so there are no 'grab and go' things in house.  I felt so bad for him tonight, he ransacked the kitchen trying to find anything he could eat right away.  I offered him grilled cheese, pancakes and eggs, nachos, tacos, toast with peanut butter, ice cream, chocolate chip cookies you get the picture.  He couldn't wait for me to make something, and it was nearly 11pm.  He finally let me make him some toast which I slathered with butter and peanut butter!  I know he went to bed starving.

Let's see, what else.  He's dizzy and 'whirling', the skin on his fingers is peeling off in sheets, he has a headache and his eyes, muscles and joints hurt. 

I'm sure prednisone won't kill him but I'm telling you, it kills me!  It kills me to watch him get so sick on something that is suppose to make him better! 

As for Shelbie, she is hanging in there with a bad cold.  IVIG is still not scheduled and I'm getting frustrated because if she doesn't get it this week then it means she will get it next week and be sick with the side effects for Thanksgiving!  Last Thanksgiving she was in the hospital with a platelet count of 4 or some crazy number like that.  I just want one holiday this year with everyone healthy and happy but that might be asking for too much.  We will be happy, we always make the best of whatever comes but it would be great to be healthy.  She's had some new symptoms crop up like a patch of hair is missing from her head, she has a tremor in her hands and her right arm is numb.  I have no idea what to make of these symptoms. I say this, I am not just knocking but pounding on wood...he is doing okay.  At least nothing unusual just his regular, nightly nausea and stomach cramping. 

As our world turns... 

Sunday, November 13, 2011

Life in a box

I have been sticking pretty close to my online support groups for both Mitochondrial disease and Shwachman Diamond.  It's not that they solve any problems for me but there is a comfort knowing that all the flood of feelings I experience from one moment to the next are normal. 

One mom today,  wrote a message to someone else in the mito group.  She verbalized so well what I feel all the time.  She talked about how she keeps her life in 'boxes'.  The boxes contain emotion too overwhelming to deal with. 

I keep my own life compartmentalized.  I think it's the only way to manage everything.  I guess the perfect example is my blogging.  Three separate blogs with completely different content.  In addition to all these blogs, I have two or three different journals with even more thoughts and feelings, different from anything read in my online world.  It may seem strange but it helps.  It keeps the chaos controlled. 

When it's time to deal with one part of my fractured life, I can carefully lift the lid and let a little escape at a time rather than balancing all the little parts at once. 

This same mito mom who I read about today also suggested that coping with the unknown is a skill.  Like anything else, it takes practice and practice makes perfect.  I can not visualize the day when I will not be thrown by a new problem, a new diagnosis, a new worry and unknown of living with rare, chronic disease.  I have no idea if I will ever see that day but each setback is a chance to practice increasing my faith and starving my fear. 

Friday, November 11, 2011


Well, not good news from the Ear, Nose, Throat doctor yesterday.  Not good at all.  Spencer is not getting a cold, or tonsilitis, nor does he have strep throat.  He has a neuropathy.  What is a neuropathy?  As far as my simple mind understands, it is dying of the nerves.  The nerve that the doctor thinks is being damaged is the cranial nerve.

The cranial nerve is responsible for things like the gag reflex.  So, the million dollar question...what is causing the nerve damage?  He said it is one of two things.  One, it could be that there is an autoimmune process taking place that is attacking the nerve.  Two, it could be that the defective mitochondria is killing the nerve.  Theory one can be treated.  Theory two can not. 

We are trying the treatment for autoimmune/viral infections of the nerve which is a super, rockstar size dose of prednisone.  I hate prednisone!  It makes my kids turn into mean, angry people who feel sicker than before they started it.  We don't have a choice so the next 25 days are going to be interesting.

If the symptoms of pain and fullness subside, then it will confirm an autoimmune attack of the nerves and we make a plan from an immunology standpoint.  If the symptoms are not better, then we get a confirmed Mitochondrial problem for which there is no cure and it is progressive.

Of course, I am praying fiercely that it is just a virus or bacteria and the medication will work.  I always know that when we experience these little breaths of calm in our life like we have the last 3 or 4 weeks, it will be followed by a tornado of events that we never saw coming.  Kind of crazy. 

Spencer refuses to talk to me about how he's feeling, he just grumbles about how much he hates the doctor and the doctor is stupid and the doctor had no idea what he was talking about and, and, and which is a 17 year olds secret language that means...this sucks and I am scared and what if they can't fix me?

Thursday, November 10, 2011

Can I just hit Delete?

If I delete my last post, take back all I said about things being so great...can I turn back time and the nonsense today will cease to exist?  Blech!

Shelbie woke up sick!  I guess it makes sense since we are a week and a half from infusion even though it feels like the last one was more than 6 months ago!  Stress has a way of making time drag!  Last night, my kids had friends over who only finished throwing up 24 hours ago, others who have been around all kinds of sick people at work.  No matter how many times I try to tell them stay away from sick people, it never works.

Then there's Spencer.  He's been complaining of a sore throat for a few days now.  I figured it was a little cold but when I look in his throat, there is absolutely no redness whatsoever, no sign of infection, he doesn't have a fever, achiness or any other symptom of a cold or otherwise. The pain is inside and stabbing and he feels pressure and fulness in his throat.  Then a new symptom has developed, a weird one.   He has lost his gag reflex.  Strange! 

Spencer is my kid who gags when he brushes his teeth.  Every morning, I can tell when he is brushing his teeth because he is up there coughing and gagging.  Last night, he demonstrated how he can stick his finger clear down his throat, past his Uvula, that little dangling thing, wag his finger back and forth and no gagging.  Weird. 

I jumped on my mito group and sent out an email asking if any other mito kids had experienced anything like it.  I did not like the answers that started rolling in just minutes later.  Lots!  Lots of people have experienced this in the mito world. One lady, who has confirmed mito said that she experience that and it was the dying of some cranial nerves! Another mom reported that her daughter experienced a loss of the gag reflex and it was her salivary glands dying off due to mito.  Oh my gosh...I hope beyond hope that this is not a mito problem.  I really hope it's just some random infection inside his tonsils that we can treat with a little pill of some sort! 

I also called out to our Neurologist in Seattle to see if he can give us some direction and this afternoon, we are off to the Ear, Nose, Throat doc.   Here we go...

Monday, November 7, 2011

I hate to say it...

BUT...things have been pretty quiet around here from a health standpoint.  I hate to say it because it seems as soon as you mention how great things are, they turn to not so great very quickly. 

Last week, Shelbie stayed pretty healthy, all things considered.  I feel like her body is finally accepting the plasma better and all the treatments are starting to pay off.  It kind of gives me a false hope that she is 'cured' but I know it's not real.  Well, it's real but it's not her body doing any work, just the medicine.

Spencer had a few glitches in his week.  He broke his toe playing soccer in gym class, had the pneumonia shot which irked him some and continued with his daily nausea routine but he managed pretty well.  He got a job over the weekend so that is great but means he will be gone everyday after school for a few hours and I worry that it will be too much for him but we will see how it goes.  He's really excited and I am too.

Sam scared me this week but other than the scare is doing well.  He seems to be the healthiest of the bunch even though his bone marrow is just as empty as the others.  We have known now for some time that he has the mito defect for Liebers optic neuropathy.  Liebers is failure of the optic nerve which results in blindness.  All the kids have markers for it but the doctors can't tell us for sure what it means.  A few months ago, Sam got a black eye.  At the same time, he had a problem with his peripheral vision which I attributed to the black eye and inflammation.  Well, this past week, it happened again only in the other eye but it had not been injured or anything.  He complained about it for two days.  I was trying not to worry and take the wait and see approach but I was worried.  I think I asked him every hour, "Is your vision back?"  It did resolve but I don't like it when weird stuff like this happens without an explanation.  

At any rate, I am glad for the break in trauma and crisis from chronic health problems, it has freed up time to deal with other things falling apart.  Sadly, I know the problems will be coming around again.  


Thursday, November 3, 2011

Learned a few things

Yesterday, I learned a few things.  Spencer had to get a Pneumonia vaccine because his most recent immunology tests showed that he had little resistance, in fact hardly any at all, to the Pneumonia bacteria.  In my mind, I just thought, Oh well, we will have to be extra careful he doesn't get pneumonia.  He had it just a few months ago but still, has not built up a resistance. 

While sitting in Short Stay at the hospital yesterday waiting for what was suppose to be a simple vaccine, the nurse handed me some literature on the Pneumovax vaccine.  I did not know that the Pneumonia bacteria is actually responsible for causing ear infections, strep throat, meningitis and a host of other problems!  Spencer has always been plagued with strep bacterias, ear infections and has had meningitis which turned into encephalitis. 

In four weeks, we have to have labs drawn to see if his body has formed any titers to the vaccine.  If he hasn't then, the doctor said he will most likely have to start IVIG for the winter months at least to give him a little protection.  Blech!  Not excited about the prospects of that!  I wonder if we could get a family discount, share a room.  Anyways, we will just have to wait and see.  Just for the record, I don't cross my fingers anymore, that changes nothing!

The other interesting thing I learned is that Red Heads are more sensitive to everything, more than anyone else with a different color of hair.  Have you ever heard that?  Before the nurse gave Spencer the shot, she said, "Okay mom, you know what they say about red heads..."  In my mind, I'm thinking, they have a fiery temper? What does that have to do with vaccines? That can't be right so I said, "No, what do they say about red heads?"
"They are far more sensitive to things happening in their body so keep a very close watch on him tonight and over the next few days.  He could get some bad reactions, worse than most people." 
I had no idea.  Looking back, I think she may be right. 

This morning, the pain in Spencer's arm is so bad he can hardly lift it!  Coincidence?  I don't know, it's another pain, another dose of ibuprofen, another day for us, red hair or not!

Monday, October 31, 2011


It is hard to believe that one year ago this month, Shelbie got sick with ITP.  Like everything that happens to us, I thought, surely this isn't going to last forever.   Well, it hasn't lasted forever but it has been one long year that at times, felt like forever. 

I remember clearly that wintery, spring day, staring out the large window in her hospital room hoping  the answer would be written in the glaring snow covered roof below.  The doctor had just left, announcing that all the treatments we had tried were no longer an option and presented three new alternatives. All three had a suck factor to them. 

One was a pill that would surely scar her bone marrow leaving her unable to be eligible for a transplant.  The second option was a spleenectomy.  The spleen is a vital organ of immunity.  Losing that would make her forever susceptible to infection and the odds of curing ITP were very slim.  Our third option was chemotherapy.  The kind of chemotherapy they suggested using, targets the B Cells or lymphocytes, again a major part of the immune system and very important white blood cells. 

The decision did not come easy.  Ultimately, we chose chemotherapy.  You can imagine our excitement when we finished and the doctor said her B-cells were safe.  We lived with that happy thought for about 3 weeks and then the illnesses began and then news followed that all her B cells had been destroyed- no immune system! 

The rest is history I guess.  Every month as we sit in the infusion room getting IVIG to put immunity back into her system, I can't help but wonder if we did the right thing but the very next thought is...I can't look back.  And, so it is, life as we know it today.  There are worse things I suppose and I think we are starting to find a groove with these infusions, a new normal.  Here's to normal!

Sunday, October 30, 2011

Not ready for this!

I guess this is part two to the heartbreaker post.  This young man that came into Shelbie's life this week is really taken with Shelbie.  They have gone out three times and have had a great time.  He is kind to her and respectful and that is refreshing cause Shelbie has never been treated that well by boys. 

Last night, she decided since he was getting more serious, it was time to let him know that she is not your average girl.  Well, he didn't take it all that well.  I didn't take it all that well, and Shelbie didn't take it all that well.  It just sucks that reality has to be faced. 

Any guy that falls in love with Shelbie or girls that love my boys for that matter, have to know they are falling in love with disease.  This stupid disease that changes every day.  No two days are ever the same!  They are signing up for a life of financial strife!  That's a lot to take on and overwhelming to think about.  It's hard enough these days for a girl to find just a regular, decent guy but someone with a chronic illness needs more than average.  It takes someone special to take this on. 

I feel bad that Shelbie has to be in this position.  She feels bad.  For us, it's a way of life.  For someone just learning about the madness, it's totally overwhelming and that doesn't feel very good.  It's draining both physically and mentally.  I don't know what is going to happen with this relationship but I do know that it this has created a whole new turmoil for Shelbie.  Now we play the 'what if' game...

What if I never get married...what if I never find anyone to love me...what if, what if, what if....Ack!!!! 

Today has just been too much!  On top of all this, I have had to fill out mountains of paperwork for Social Security Disability.  Her father and I decided that Shelbie needs to be on disability since it is hard for her to work at a traditional job and insurance is getting hard to get and keep and extremely expensive.  I found out on Thursday, that I had filled out the wrong paperwork. So, tonight, I have been scrambling to fill out the new forms in preparation for our interview tomorrow (Monday)  It has taken me over 3 hours!!  They suggest you give yourself 90 min. to fill it out but 3 hours later, it's done!  Now come all the hoops I have to jump through to please the government. 

I'm feeling a little buried.  I know I need to be more graceful about this and I do see the tender mercies of God daily, but it's still really hard with everything I am trying to accomplish.  It's just not a good way to start the week. 

Wednesday, October 26, 2011

A Heart Breaker

Some 12 years or so ago, I knew in my heart I needed to be prepared for a lifetime of health problems.  I did what I thought would prepare us for the ups and downs that Shwachman Diamond Syndrome would surely offer us.  I tried to stay vigilant with their medications, quarterly blood draws, semi annual appointments with specialists and nip whatever came as quickly as possible.  I kept the house and their hands as clean as possible, free from microscopic havoc.  I planned fun things, lasting memories.  I read books and articles, health journals and other mother's journals.  Their well being and happiness was my only concern.  It still is.

I was excited that Shelbie had been asked on a date last night.  I was excited that for one night, she would experience life as a normal 19 year old girl, bon fires and smores with a nice young man to share it with.   InI had visions of helping her get ready and sharing in the excitement then waiting anxiously for him to come to the door. 

Well, it didn't exactly go that way.  Instead, there were tears.  Lots of tears.  She had a million reasons why she needed to cancel the date; she was too fat, too ugly, too short, too this, too that.  The bottom line is that she was scared.  Scared that he would find out that she was sick.  Scared that he would not want to see her anymore.  Scared that she will end up spending her life alone because really, who wants to marry someone sick. 

She finally made it out the door and when she returned several hours later, the tears started back up.  The guy was nice enough but there are so many factors that make even the simplest date a complex mess not to mention a bitter awakening to reality.  This young man is smitten and wants to spend every possible moment with her which means, when does she tell him her situation.  Either he will be okay with it, or find a way to get out.  If it's the latter, it means another broken dream and that's sad.

The truth is, she may never find anyone ready to take on Shwachman's.  She may never have the opportunities that most young women her age have.  It's really been a struggle as she watches many kids she went to school with getting married and starting families.  Honestly, it breaks my heart to see her so sad.  It's something she hides from most people.   It really breaks my heart and I have no idea how to make it all better.


Sunday, October 23, 2011

Because I know

Would you want the ability to see into your future?  Would you want to be able to see the future of your children?  See the problems coming, the opportunities at each fork in the road?  If you had that knowledge, how would tomorrow look as opposed to yesterday?  What would change?

I have a little bit of knowledge, maybe more so than the average guy on the street as to the direction my life is going or at least the direction of my kids.   It's not the whole picture by any means but its enough information that it changes things.   It changes how I view the world, the choices I make.  Each decision is weighed heavily against my priorities and those priorities are set according to my prize possession- my kids. 

Because I know a little bit about how the health of my kids is going to deteriorate, I do everything in my power to make the most of each day.  I like to think I have more control than I do.  I like to think I can keep them in a bubble to preserve their health, keep them germ free.

A couple of weeks ago, while visiting with our specialist in Boise,  I asked him how I could convince the kids that they can't do all the things their friends do and that they have to take some time to rest.  The more strenuous their activity levels, the sicker they get and the more they suffer and I hate that.   You can imagine my quandry at his reply, "Why would you do that to them? Let them do whatever they want.  Let them go gangbuster living life and take the bad days as they come.  They won't always be able to do these things"

Wow, I did not expect that!  It was the hardest thing to hear and it goes against my grain big time!  I mean, I let them do things but I do try to slow them down. Whenever they come to ask if they can go biking, skateboarding, or I know Shelbie has overbooked her day I freak out!  I hate it.  But, I am trying to take his advice and be a little less anxious but because I know what I know, it's really hard knowing the consequences they will soon face.  I hate seeing them pay that toll but at the same time what's worse the debt to be paid or regret?  Regret by far stings more.

Thursday, October 20, 2011

The Things We Do...

To be normal! 

I hate being abnormal.  I'm sure none of us really love being set apart from the mainstream of life.  We all want to fit in, hasn't it always been this way?  From the moment we set foot in kindergarten, we realize what it takes to be a part of the greater whole.  When we deviate, we quickly learn how to take the bullying or fall back into line and run with the crowd.

On the weekend, I had to make a trip to a neighboring town to the home of a family I know is struggling. Their struggles right now are pretty devastating.  Their family life is in a shambles but they don't know that I know.  Still, when I came to their front door, the facade of happiness was oozing from the hinges.  A smile with hollow eyes filled their faces. I left feeling very curious, wondering what is so hard about being honest. 

From Shelbie's seat in the car, she noticed the same uncomfortable emptiness and said, "Why are they trying so hard to look like everythings okay?" 

I don't know why we do it.  I don't know why I do it.  My kids do it.  They would rather have their fingernails removed one by one than appear to be suffering or sick to their friends.  They do things to appear normal when they can hardly lift their head off the couch because they too, just want to be normal.

Today, I met with a man who mentors people trying to start a business.  He sort of holds your hand through the whole process.  When the interview began, he asked me to tell him about the details of my life and why I want to start a business as opposed to getting a job at 7-11.  I began to tell the Disney version of my life, heavy on the sugar coating to prevent information overload.  Well, didn't work!  The man put his pen down, rubbed his eyes and groaned, "Kathy, you don't need a job, you need a miracle!"

I could feel the ever present lump creeping up to find it's rightful place in my throat and once settled, I knew the tears would start.  I shifted uncomfortably in my chair and tried to offer some remedy that would make us 'normal' once again, at least to him.  I couldn't find the words in all my stuttering to make this awkward situation manageable. 

We are big. A big, awkward family.  We fill the moments of each day with big problems and small solutions.  We overwhelm people with the size of our struggles.  I feel like we are taking up too much room on the bus.  Somedays, I even feel too big for this world.   That must be why I like small things, miniature things.  I like small houses,  small cars.   I make small things, I dish up small servings at dinner.  Everything I do is on a small scale  because the rest of my life is so big, so consuming. 

It should have been a hopeful, empowering meeting but I walked away feeling defeated, abnormal and hopeless...and BIG.

Wednesday, October 19, 2011

Deeper feelings

This week on the mitochondrial Facebook page which I am a groupie of, a member posted a link to an article written by a mom whose only child has a fatal genetic disease called Tay Sachs.  It is a beautifully written and touching memoir of motherhood and chronic illness.  If you want to read it, grab yourself a tissue or two and read it here.   I've read it three or four times and each time the connection I feel with this mother, Emily Rapp is amazing.  She verbalizes what I so often feel.

I sort of feel guilty even trying to compare myself to her.  I have had much more than 3 years with my kids and will probably have many more but lots of the feelings I have are an echo of hers.  I too have learned many lessons over the years, some the hard way.  I have learned how grief and sadness can change you into someone who loves deeper and cares more.  It's changed the way I see my children and myself.  We don't wait for tomorrow, we live for today.

Everyday brings with it a new set of uncertainties, new worries and new wonders for the kids.  Everyday, deep in the back of my mind, I prepare to lose them but hope beyond hope that I won't.  Not a day goes by that someone doesn't bring up the subject of death or dying.  Talks like that stall the day but we seem to find our way back to our comfy corner of 'that happens to others, not us'.

I love Emily's analogy of being a Dragon Mom.  I am indeed a Dragon Mom. My firey spirit won't back down.  I will suck the life out of each moment, each tear that is shed I will love even more.  In the suffering lies wisdom. 

Emily Rapp's essay brings a sharper focus into the day.  I have been feeling overwhelmed and even resentful lately as the cares of the world steal away time with my kids.  Doesn't this jobless world know I have three special kids who deserve my attention more than my meager and dwindling savings account or meaningless job that brings me a couple dollars for groceries but leaves a gaping debt with my kids?  I hate the burdens I carry right now but unfortunately, the world doesn't care of my deepest concerns.  It doesn't care how precious each moment with my kids is so I forge ahead the best I can, hoping the regret of wasted time now is small.  Peace is what I am searching for as I love my kids even deeper today than yesterday. 


Friday, October 14, 2011


Shelbie had her IVIG infusion on Thursday.  I am so happy to report it was by far the best infusion to date!!  I never thought I would see that.  We finally had a nurse that actually took into account my opinion and listened. 

I overheard the hospital pharmacist tell the nurse not to worry about titering the dose because she has had it so much.  He suggested she run it through in one hour.  That is lightening speed!!

When the nurse came in, I told her I didn't agree with the pharmacist and really wanted it to be run slow.  We had scheduled out the entire day and it's not like they had anywhere else to be for 12 hours so we ran it over 6.5 hours.  The nurse also suggested a different pre med schedule and so we went with that as well. 

For the first time ever, Shelbie didn't have any bad reactions during the infusion.  She never ran a fever like in the past and the nausea never really caused her any discomfort.   Tonight even, the side effects are not nearly as bad as they usually are.  She has the headache, fatigue and some nausea and achiness but it's not at all like last month, or the month before that! 

Did we find the magic formula?  Maybe, maybe not.  The thing about IVIG, is that no two bottles of the stuff are the same. One dose of IVIG is made up of thousands of plasma donors and their individual immunity so the reaction each time can be unpredictable depending on how Shelbie's body receives all the immunity.  Next month may be a totally different story again but for now...we are making a big deal about this somewhat easier infusion. 

I hope the ease of it doesn't mean it won't be as effective?   Time will tell.

PS...scroll down to read more about our GI trip to Boise.

Another mixed bag

This week has been crammed with doctor appointments and hospital visits.  All things considered, every visit went well.  Hmmmm, where to start.   I guess with Boise. 

We arrived in Boise on Tuesday night.  We ate and then headed to our cheap hotel.  I was so tired.  I love staying in Hotels because it's one of the few times I know my kids have no reason to leave.  They can't hang out with friends or go on any outings so while they are chillin on the beds watching tv, I went to bed.  It was only 9:30 and I was so happy to have the chance to get more than 4 hours of sleep.  As my luck goes, I could not sleep to save my life.  I was so bummed when I 'woke' up more tired than when I went to bed. 

Anyways, I digress.  Our GI, Dr. Thompson is one of my favorite doctors.  He is the guy who started it all, made the final diagnosis on my kids almost 12 years ago.  He always spends so much time with the kids and gives them all sorts of good information they can use.  For instance, Spencer is trying to bulk up with weight lifting since he is such a 'small' guy.  Dr. Thompson shares weightlifting tips with him, as well as supplements to help his struggling GI system handle the added load on his body.  I really like that he tries to include them in the care plan. 

Here's how the stats on the kids break down from a Gastroenterology stand point.

Shelbie...Her GI system is really being stressed from the problems she is having with her immune system and empty bone marrow.  There isn't much we can do for her.  That was sad to hear.  She had a really tough time hearing some of the things he had to say.  We all get so good at denial that weeks like this, really bring things into magnification.  

Spencer...He finally made it on the growth curve!!!!  His eyes just beamed when he heard that.  He has always been in the 0 percentile.  He is now about the 3rd percentile thanks to an 8lb weight gain this year!  He only grew 1cm but he was happy with the weight gain.  We are starting him back up on pancreatic enzymes to see if we can get things to settle down as far as the nausea and pain.  If that doesn't work, he feels like Spencer's biggest problem is the mitochondrial issues.  Since mito affects muscles, it makes sense that it is also wreaking havoc with his GI track since it is basically muscle.  I am really hoping that the enzymes work. If it's mito, there is no treatment and it is progressive.  I just don't want to see his organs start failing, especially his colon etc. 

Sam...he had some great gains as well.  He also made it to the 3rd percentile with his 4lb gain in weight and 2" in height.  It's about time that poor kid had a growth spurt.  He is in the same boat as Spencer, probably more mito going on than anything.  Sam is still on enzymes so not much changes for him.

So, that's that.  We also found out that our Hematologist from Seattle, Dr. Shimamura's favorite GI doc left Seattle and now works at ST. Lukes with our GI!!  He specializes in SDS.  We were able to meet him and he will work in tandem with our regular GI so I am really excited about the team I have worked so, so hard to place!  I am pretty happy with all of our docs right now so I guess you can't ask for more than that.


Sunday, October 9, 2011

Status Quo

This week, Shelbie continues to fight cellulitis, the skin infection on her stomach.  The antibiotics have helped and definitely kept her out of the hospital but as always, it's slow healing.  Another weird development that cropped up today was petechia! 

I'm not entirely sure what that means.  Could be nothing.  In the meantime, she is coming down with a cold this week and her eye infection is back again. 

For now, I'm not going to worry about this.  We are getting ready for a trip to St. Lukes this week.  The day after we get back, Shelbie will be at the hospital here for her IVIG infusion. 

My hope this week is that our GI doc in Boise will be able to find something to give relief to the boys and their recurrent and chronic nausea.  It is getting old! 


Wednesday, October 5, 2011

Calm before the storm

I should know by now that it's better to just let the peaceful moments roll on by without me 'noticing' because whenever I mention how happy I am with the little break from stress, we get slammed!  Isn't that a law of Murphy or Confucious or something. 

About a bazillion things happened today to test my patience and my faith.  Last week, Shelbie developed this little pin dot of a pimple or something on her stomach.  I didn't think a thing of it.  Over the weekend, it got bigger and bigger and now covers a large portion of her stomach.  I ran her into the doctor and it was on the verge of cellulitis. 

What is cellulitis you ask?  It is not the dimply, dents women tend to get on their legs.  It's an infection.  A serious bacterial infection of the skin.  Without treatment, it can spread quickly to the blood.  In an immune compromised person like Shelbie, it is very, very serious. 

She started a high dose of oral antibiotics and topical antibiotics but if there is not a big improvement over the next 24-36 hours, she will most likely end up in the hospital on IV antibiotics.  We are all sitting on pins and needles around here as we wait to see what happens. 

In non-health news.  My unemployment ran out two weeks ago only they neglected to tell me.  In fact, a couple of months ago, they told me it would last until January.  Due to a clerical error, it actually ran out two weeks ago.  So, today I have been scrambling and by scrambling, I mean freaking out.  I think I applied my make up at least three times today but it could have been four. 

At any rate, I am coming up with some plans.  It's not easy trying to care for the kids physically, emotionally and financially.   It's a lot to shoulder but despite the setbacks today and my fatigue, I have some renewed energy in making things happen. 


Sunday, October 2, 2011

A moment of peace

It is amazing the night and day difference that IVIG makes for Shelbie.  Once she gets passed the awful side effects, she does much better.  Of course she is still really tired and feels run down but the colds and viruses are essentially gone. 

Unfortunately, it only stays in her system for about 21 days.  We are coming up on the 21 days so it will be interesting to see what she comes down with next.  Her B-Cells have still not returned which to me is neither good nor bad. 

Here's why.  As soon has her B Cells return that signals her immune system to rev up.  That revved up immune system begins destroying her platelets and we start the whole nightmare of Immune Thrombocytopenia Purpura all over again.  Our doctors have already made it clear that they will not approve any other treatment besides the chemo agent Rituxan so she gets signed up for another two months of that.  Her immune system will die, the platelets will come back and so will all the viruses and bacterias.  IVIG will continue until the B-Cells regroup...and the vicious cycle continues. 

But for now, I have enjoyed what it feels like to breathe, to get caught up on a few things during this time of reprieve. I try not to think ahead to the second week of the month when we have to do the hospital thing all over again.  I know it could always be worse so I really shouldn't complain.

In other news, it's that time of the year when the kids' need their bi-annual check ups with our GI doc in Boise.  Those appointments have been scheduled at St. Lukes and I am actually looking forward to seeing him.  The boys desperately need some help in the GI department.  They are sick and nauseated all day, everyday.  I really want them to be able to find some relief.

I have a little secret too but don't tell anyone...I got a call from Make A Wish!  They want to grant Spencer a wish!!!  I am so excited for him, I can hardly contain myself.  I will have to keep it hush, hush for a while longer until all the paper work gets completed and he has been assigned his Wish Granters.  I can't wait to see what he wishes for...I have no idea.  He is my mysterious child!  I will keep you posted.


Wednesday, September 28, 2011

My Holland

A little while ago, I posted one of my favorite stories called, Welcome To Holland.  If you missed it, go here to read it.  I think about 'Holland' nearly every day.   Yesterday as I waited in the car pool lane, I thought about all the things I actually like about My Holland. I'll admit, at first it was really hard to think about what I like about all this, in fact even the word like used in reference to our life with Shwachmans and all the other problems seems to be an oxymoron.

I dug around in my distant thoughts and came up with a short list of things I like about Holland.
  • I really like that since I lost my job, I have been able to be home with my kids again and take care of them and nurture them like I was meant to do.  I can't do it all, I don't want to do it all, I just want to be a mom.
  • My vocabulary has grown.  I no longer stutter when I say Immune Thrombocytopenia Purpura and I can spell it too!
  • I have become freakishly interested in the status of my kids' poop and other gruesome and disgusting bodily functions and can carry on an intriguing conversation without feeling one twinge of disgust or embarrassment!...I have to so I can gauge how their pancreas' and other such things are fairing.
  • I have discovered a whole new group of friends; famous and world renowned!  They are in the big league when it comes to doctors yet they aren't too big to take my calls, answer my questions and tell me that everything is going to be okay.
  • I have learned that courage is not just a feeling.  It's an act.  It's showing up for life when life is having a showdown with you.  It's being fearless as you sit in the infusion room and receive chemo with a bunch of other fearless, courageous people.
  • I have seen smiles and heard laughter when there was absolutely no good reason to do so. 
  • I have learned that I can't live without prayer and faith.
  • I have learned that when I feel all alone and no one seems to care or understand, I can stand alone because I have my Savior.
  • I have learned that when people say they want to be my friend and support me through this, they don't really mean it but it's a nice thought.  Our reality is alot for people to handle and I'm learning that that's okay.
  • I have learned that when people say they want to be my friend and support me through this, they really DO mean it and it feels really nice.  It doesn't happen often but when it does, it feels like a warm blanket.  We need to be more warm blankets for people.
  • My capacity to love has grown more than I could ever imagine.
  • I have learned that my thoughts are always more frightening than reality or maybe it's that I am stronger in reality than I feel in my thoughts.
  • I have learned that I may not deal with every hardship with grace, dignity and faith, but I have the tools and know how to get back to that place of hope.
  • I have learned that I am not like everyone else.  My thoughts seem to run deeper.  The little things I see people taking for granted are huge and monumental to me. The huge and monumental things to other people are merely molehills to me like ACT scores, GPA's and University Scholarships.  Learning at school is important but many more important lessons are learned in living life.
  • I have learned that I am never done learning.  I will forever be mastering new things.  The challenges and trials I had yesterday will pale in comparison to what I will be faced with tomorrow.  That thought is both exciting and daunting.
  • I have learned that my life is richer because I have been blessed with so many trials.
  • There is no doubt that God saved his very best spirits to send me...Shelbie, Spencer and Sam!
Finally, here in Holland, miracles happen every single day!  Not a day goes by that I don't see the holy hands of God in my little, crazy life.


Sunday, September 25, 2011

The Path

 "When you are on the path you will know it, when you are not on it, you will know it."  Tao of Lao Tze.  I have no idea who this guy is but I like what he says.  He goes on to say, "The process of living life allows you to feel as if you have found the path."

I like these thoughts.  I know that right now in this period of my life, I am not on the Path. Well, I am on A path but not the path I want to be on.  I'm on the 'crazy' path.   Incidently, did you know the word Tao means 'path'?  I believe we find our path because of our life situations.  Some of life's experiences are energizing, moving us effortlessly along, sometimes we find ourselves half dragging down the path. 

Dragging myself down some path is what feels familiar these days.  I have allowed myself to be consumed with the hard things this summer has dished out.  I realize that while I may not be depressed in the traditional sense of the word, I am definitely distracted by everything going on; unemployment and health problems.  I didn't realize how much these setbacks threaten not only my own physical health, sense of well being but my competence and productivity as well.  Recently I was validated when someone going through similar struggles mentioned the same side effects of late onset ADD.  Sometimes just recognizing the problem or having someone else recognize it, makes a difference in how I manage. 

Never before have I felt so disheveled.  It's really hard for me to deal with.  I am usually the one multi tasking my way to the next task, blowing through my to do list with ease and starting a new one.  When I speak, I use to make sense.  Now I just seem to talk in circles.  I can see it on the faces of people I am trying to communicate with they are just plain confused.  I usually notice these cues and say, "You have no idea what I am trying to say do you?"  They generally smirk and say, "No, not really." 

So, while my efforts to get back on the Path seem irrevelant and fruitless, I am still making the effort.  This week, I am going to try to tackle the week in a more organized and strict manner.  I'll let you know how it goes.  I have a lot to do this week in our little world of doctors.  I have to schedule appointments for all the kids to have their bi- annual Gastroenterologist check up done in Boise.  Schedule follow up appointments in Seattle and plan a special surprise for Spencer...more on that later!  I also want to start writing a few posts on the emotional stages of dealing with our genetic fruit salad. 


Wednesday, September 21, 2011

It finally hit me

While I sat by Shelbie's bedside on Thursday, once she fell asleep from the loading dose of pain meds they gave her to control the side effects, I did some thinking. Deep thinking.

When I was engaged, I read lots of books on marriage.  I wanted to be well prepared for what I was committing to.  When I got pregnant, I bought the bible for pregant women, What to expect when you're expecting.   I'm sure if you have kids, you know the book too.  When the first baby was born I bought the sequel, What to expect the first year.  I think I highlighted every page.  I read that book faithfully along with plenty of other companion books.  When they got a little older, I read books on teaching kids value, teaching kids to work, teaching kid the birds and the bees.  When my first experience with the misguided, brain malfunction teenage years began, I read books on raising teenagers.  When those tactics failed, I read books on the biggest mistakes parents make.  When diseases started cropping up, guess what I did?  I read.  I read everything I could get my hands on. 

The last few years, there's been a shift.  Things have gotten harder.  Health problems are getting harder to control and new one's are cropping up like dandelions.  This is going to sound really dumb but in the last month or two, I am realizing that the problems the kids have are not going away.  They are not going to get better.  I can't keep saying things like, 'When Shelbie is better....' 

In the back of my mind, I really believed that even though we have these bad things, they somehow weren't going to affect my kids like all the other kids we know.  We would be the exception, the mild case, life would never get any harder than it was 8 years ago and as long as I could manage the problems at that level, we would always be okay.  Call it denial, call it wishful thinking, call it faith, call it hope.  Doesn't matter what you call it, it wasn't accurate.  It was a great and creative way to get through the hard times, protect my brain from emotional overload but it is getting less and less effective as time marches on and things get more complex. I short changed myself with that concept I clung to because now that things are much harder, I think I should be able to manage as well as I did in the early stages and I am not very forgiving of myself when I can't make it all work out.   I don't want to go all doom and gloom on our situation because that's not accurate either. 

So, it hit me...the biggest transition I have ever faced in life, bigger than marriage, pregnancy, babies or teens, living with chronically ill children, and I have never once picked up a book, read an article or sought any kind of help to understand how to navigate through this!   We have this standard for ourselves of trying to 'look' normal to the world.  I  make excuses for why my kids don't play sports or can't do the same things other kids can or why, at 1:00 in the afternoon Shelbie is still not out of bed.  I feel dumb when people find out I let them eat whatever they want, whenever they want even if it means I am making them a meal at 11:00pm.

It's time to accept that this is a foreign land and I don't know what I'm doing.  I am going to be real...not Polly Anna, pretending like everything is just fine.  I have already started collecting books and articles on dealing with the emotions of caregiving and chronic illness.  It has been enlightening, heart warming.  I'm really not going crazy!  I read that and jumped for joy.  Ahlzeheimers is not setting in early and I haven't developed a bad case of ADD.  It's the stress of all this that makes me feel like I'm falling apart most of the time.  Do you know how happy that made me?  There are enough people feeling the same way I am that they had enough material to plan big research projects and write books about the tired, cranky, caregiver....ya know...not really but that's what I feel like. 

So, this new adventure begins.   Learning how to be a different kind of mother.  Learning to be more accepting, more loving towards a disease that is stealing away my time, quality time with my kids.  Learning to love this life.  Rejoicing on the good days and being humbled and grateful on the bad days. I am determined to figure this out. It has been and will continue to be an intense period of growth and big dose of reality. 

It's the Most Wonderful Time of the Year!!

29 gifts!  My traditional way to start the new year...give away 29 acts of service in 29 days is back in my life and week one is done! Eve...