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. 

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