Friday, May 31, 2013


It's been surprisingly quiet around here.  I hardly want to say anything for fear I jinx our current path of calm.

Shelbie and Spencer had their Rheumatology appointments yesterday followed by tons of blood work and tons of x-rays at the hospital.

Yesterday was just a weird day altogether.  It started while at the doctor's.  Instead of being able to see the doctor for the first visit, we had to see the PA.  I like the PA but he is not as thorough as the doctor is.  He doesn't ask any questions.  None!  He just relies on the patient telling them everything which seems reasonable but for us at least, there are lots of things we don't mention that could be relevant but we just don't know unless they ask like carotid artery murmurs.  

Seriously, unless I had been told by the Cardiologist that the murmur is likely due to vasculitis which is an auto immune disease and falls under the umbrella of rheumatology, I never would have brought it up.  At one point he even said, "Getting a diagnosis for your kids all depends on you and the information you give us."  Well, no pressure there!

After examining Spencer, he left the room for quite some time.  He came back in and began looking at Shelbie.  We talked some and then he left the room again before examining her.  He was gone probably 20 minutes.  When he came back, he said, "Okay, I never do this but I'm going to do it today.  I would like you to please go through my notes and make sure I haven't made any mistakes and go ahead and add in anything you think is pertinent that I didn't include.  I just ask that you don't mess with anyone else's notes."

I actually started laughing!  I didn't think he was serious!  Then he turned to Shelbie and said, "Your job is to make sure she doesn't mess with anyone else's chart."  What in the world??  He was dead serious, pulled up Spencer's information on the computer and left the room! I'm not even kidding!!

Wow!  I had a half a page of notes I had written, things he had totally screwed up on with Spencer.  Like he said his joint pain was a 2/10 when it is really a 7/10.  Little things, but they make a huge difference in their quality of life.

He was miffed that I had found so many things wrong with his notes and so many things to add.  He then opened up Shelbie's chart and had me do the same thing.  He kept leaving the room.  It was bizarre and weird.  Never has this happened before.

We were there over 3 hours!

Then, we went to the hospital for x-rays at 6pm last night.  I am just waiting in the hall for the kids to have their testing done and this nurse, a total stranger, comes up to me and asks if I would mind testing their new MRI machine?  I'm looking around like she's talking to the nobody standing beside me, my shadow or something. She's right in my face and I say, "Me?" as I look around.  Duh!  Of course she was talking to me but what a weird question!  I didn't know what to say and I was tired and not feeling well at all so rather than say, No, heck NO. I hate being shoved in a tube unless I am adequately sedated with Valium, I said, "OKAY"!

Me and my big mouth!  So, I ended up in the MRI room being strapped down to the table and then they want to try out the head halo on me so they strap on this contraption over my head, throw on some headphones and push me inside the tube!  Not even joking here people! I couldn't figure out if I was asleep in some wacky dream, if I had died and gone to medical Hell or if this whole day had actually happened!

What a weird day!  I tell ya, there is never a dull moment around here, even on the dullest of days!

Oh, here is some exciting news! Sam has been granted his wish!  More to come...I am trying to figure out a way to surprise him with the news...any ideas?  Shhhh, he doesn't even think he will get one before Spencer leaves so it's a big secret!


Saturday, May 25, 2013

The not so pretty side of life.

The last three weeks have been kind of tough with one thing or another.  There have been some really overwhelming moments.  As the kids get older and continue to reach milestones, I stand in awe of all that they have accomplished.  They have crammed a lot into their short little lives so far. The accomplishments are different from your average bear and sometimes, being different isn't all it's cracked up to be.

 Sometimes, all I see are the differences, the things they couldn't do, the things that keep them on the fringes of life and I get a little resentful. Sometimes, all I can see are the judgments of others who claim to be so perfect, perfect wives, perfect husbands, perfect mothers, perfect kids, everything's just perfect.  Of course, it's not a place I like to be and try not to stay there for long but sometimes, it can be an ugly place, even if just for a minute.

Graduation this week was a huge accomplishment for Spencer, especially when you consider the teacher he has been stuck with over the past 9 months!  He had to show a lot of initiative and hard work in order to get done with high school.

At graduation, I experienced this flood of emotion, both good and bad and even ugly emotions that I didn't expect to surface.  It happens though and when it does, it makes me feel guilty and even mean for having such thoughts. When it happens, I don't even recognize the person I am in that moment!  They read off the list of honor students, kids who had maintained a 4.0 GPA for every year of high school.  They were adorned with their golden tassels and medals hanging around their necks.  It was the brainiacs that were asked to speak.  They never choose the kid with the 3.0 GPA as the Valedictorian and the kid that barely got by with a 2.0 is even worse off.  The talks were a bit dry and their jokes referring to Dungeons and Dragons and eccentric poets I had never heard of were a bit over my head...okay, way over my head!

I couldn't help but reflect on my kids and their measly 2.something GPA, hardly a commendable average.  I was so excited when Sam handed me his report card to see that he had managed to spell the word "D-A-D" with his grades! That's an accomplishment because you see, I was afraid he was going to spell "F-A-D" with his grades, and F in math an A in art and a D in English but, he managed to get the F in math all the way to a D!!

My kids aren't well rounded in their education according to this town's expectations. They weren't doing math and reciting the alphabet even before Kindergarten started and I'm not certain they knew their colors. I spent my time just playing with them, no pressure, just hoping I was granted one more day to hold them close.  I didn't have time to put them in dance and baseball, violin and soccer, we were spending our time and money in other ways, like at the hospital.  We didn't pursue drama, our life was dramatic enough.  Math and English became less and less important and History?  Well, we were creating our family history and trying to make it as rich as we could and soon, staying alive overwhelmed each day.  Before I knew it, our unspoken mantra for life was just get a 'D' and stay alive.  I know, so much for high expectations.

Just when I think I've had enough, the big whoop-dee-doo is over and we retreat back into our little world of chronic dysfunction; where the measuring sticks of life are less rigid and way more fun and pray it will be a long while before we have to surface again into the world of great expectations, the one in which we don't even come close to belonging


Wednesday, May 22, 2013

Bone Marrow Biopsies

No results yet on the bone marrow biopsies but I thought I would post some of the picture I took while we were in Seattle at the hospital.  I thought I had more pictures than I do, I actually took more video than pictures.  I would post the videos but they are boring and silly.

Spencer getting blood drawn and IV started.  He always ends up with the shaky nurse who seems to be extremely nervous!  They all had to give up 20 tubes of blood! 

Here is the suite where the magic happens.  Again, I took video of this whole process but then they discovered I was video taping and got a little angry. 

On our way home, I was so tired!  So, so tired and could hardly stay awake.  The kids were sleeping and on pain meds so I didn't dare have them drive.  I saw this horse monument so I pulled over to get out and stretch.  I had the crazy notion that I would climb up that mountain to the horses!  I didn't expect the kids to join me but they did! 

This is what they look like at the top.  Pretty cool

Here we are on the way down.  It was a tough hike and really steep.  Steeper than it looks.  I couldn't believe the kids could do it with being in so much pain.   Even just to walk on flat surfaces was uncomfortable with their new bone marrow biopsy sites. 

I am hoping to get biopsy results sometime in the next week but I have learned it always seems to take longer than I think it will!

Thursday, May 16, 2013

It was bound to happen

Well before I get into the story of today, I am relieved to say that Spencer's murmur is a benign one which is awesome!  That's the good news!! The bad news is, the symptoms are not gone and it's back to the drawing board to figure out what is happening to him! Ugh.  But, we are use to this kind of thing right? Right.

So, in other news.  I have quite possibly turned into a germophobic freak.  Even a little OCD ish.

This morning, Shelbie had surgery to remove her wisdom teeth. It was done in the office of an oral surgeon.  When we first met with him, he was afraid to use general anesthesia because of her complex health situation. Today, he decided when he watcher her break out into hives because of anxiety that he would keep the anesthesia simple and put her under.  This meant they had to start an IV.

So, he started trying to thread the IV and that's when I went kind of crazy.  He kept pulling it in and out, over and over trying to get it to thread. This went on for easily 5 minutes. Each time, it dragged along her skin and all I could think about were the germs off her skin's surface being pushed into that puncture with every in and out movement.  He gave up on that and pulled it out.  I assumed that they would get a new IV catheter to try again but the nurse wiped it down with an alcohol pad and handed it back to the doctor!

At this point, I thought I was going to pass out.  It wasn't even a clean alcohol pad, it was a pad they had used to clean off her skin!  I'm not usually a very vocal person to say something when I don't agree with what is happening, I tend to be more passive aggressive and complain about it for days later.  This time, Shelbie's health was at stake so I spoke up and said, "Would it be a problem to use a new catheter just because of her compromised immune system?"  The doctor said, "No, we can do that." Omg...I felt like I was going to pass out.

The second and third tries were more of the same kind of thing.  I just had to bite my tongue.  Once the IV was in, I watched the nurse put her sterile gloves on and she put them both on but then peeled the right hand off so it was inside out and then put it over her left glove!  That means all the germs on her hand were now on the outside of the glove, the hand she would use to assist the doctor and probably stick in Shelbie's mouth!!  Again, the room started spinning and I new I had to leave before I went postal on this nurse.  Thankfully at this point, Shelbie was out so I knew she wouldn't miss me.

When we were getting ready to leave, the nurse just pulled the IV straight out.  She didn't apply any pressure so blood just gushed everywhere!!  She grabbed a gauze pad and wiped the blood off the arm of the recovery bed and then put it dirty side down on her IV site to apply pressure and stop the bleeding.  Seriously, I wanted to claw myself right out of that room, through the sheetrock, brick and all....

I could go on and on about all the things I have a hard time with now when it comes to germs.  I won't use public pens.  I won't touch magazines that have been touched by someone else.  I hate touching money and prefer to use my debit card.  The list is long and lengthy.

I think I have been conditioned lately to worry about germs...C-Diff, Cellulitis, Neutropenia...I seriously might need to be medicated.  Today gave me so much anxiety, I am still wired.

I will say that despite the fact that the nurse didn't meet my standard of sterility, she was very nice, super nice and the doctor was awesome.  He was able to remove all 4 wisdom teeth in whole pieces instead of having to break them apart.  I appreciated his skill in doing that.

As for Shelbie, she is in all the expected pain and discomforted but she is being so brave.  I hope she does okay.  One of the teeth was growing into the nerve of her jaw.  He warned us that this can be a tricky situation because it can cause permanent nerve damage when they extract the tooth.  Time will tell....

I need this week to end...the sooner the better.


Tuesday, May 14, 2013

Waiting nervously

I have a tip for doctors everywhere.

 "Don't have your nurse call to tell me that you have looked at Spencer's heart scans and echocardiogram and that you will call me later to discuss the results!  That's sort of a mean trick, especially to a mom who already lives on the verge of a breakdown of one thing or another, mostly the one nerve that is dangling by a shredded filament of sanity.  How about this, just call me.  Don't give me a warning call that the big call is coming! And, don't mistake my easy going, flippant attitude when we met in your office last week to mean that I have everything under control, because I don't.  It's just a little something I do to keep my kid from panicking and to keep myself from falling apart in front you because my emotional braking system has been frayed beyond recognition."

Good grief...

In the meantime, I have been trying to figure out if SDS kids have a predisposition to hyperlipidemia.  My hunch is that they do.  So far, a few families have confirmed that their kids have been flagged as having abnormally high lipids.  Kids...with high lipids!  Not right.

The wonder of all this is that I stumbled upon a study that has linked hyperlipidemia to carotid artery murmurs to glycogen storage disease and elevated lactic acid levels and creates all the symptoms that Spencer is experiencing!    Of these things, the only thing he hasn't been confirmed with is glycogen storage disease but I won't be surprised if they find this because it even describes what Spencer was like as a baby, having seizures, turning blue...scary stuff.  

So, what is glycogen storage disease?  Well, it's a mitochondrial disorder and wreaks havoc.  So, I am waiting not so patiently.  It's another one of those days when concentrating on work is going to be next to impossible until I get that call.

I am amazed when I see how God leads us along little by little.  One thing leads to another...and another and hopefully, in the end, we will be able to not only treat my own kids better but help others so they don't suffer for 18 years or more without answers.


Friday, May 10, 2013

Spencer has a heart

The Carotid Artery scan
The Echo-Cardiogram
We've been on an interesting path this week, a place I wasn't expecting to find ourselves.

In Seattle, Dr. S felt that some of Spencer's symptoms of passing out, clubbing fingers, swelling and flushed fingers etc, had gotten worse since last year when we saw her so she wanted him to have an echo cardiogram.

I thought about just getting orders from our family doc but after a little contemplation, decided that it might be better to see a cardiologist first since no one really knows why Spencer is experiencing the problems he is.

We saw a cardiologist on Thursday.  Of course he was a little nervous since he hadn't a clue about Shwachman Diamond Syndrome.  He was really good though and answered all 101 questions I had.  He had it narrowed down to a couple of ideas, one being vasculitis.  After throwing around a few ideas, he did an examination and then things changed.

He found a murmur in his carotid artery.  The carotid artery is in your neck and runs down on either side.  He said it sounded like his old patients with plaque build up in their arteries who are over weight and have high blood pressure.  He wanted scans and ultrasounds done as soon as we could.

I wasn't too nervous when he said that but I was surprised. I emailed Dr. S in Seattle and let her know what was going on and she was quick to send me articles about heart defects in Shwachman Diamond Syndrome.

We spent all afternoon at the hospital having the scans done and an echo-cardiogram.  They spent a lot of time, on those carotid arteries.  I like to think I could tell from watching if there was any narrowing or problems but the reality is, if I guessed, I would likely be wrong.

It will be next week before we hear back from the doctor.  We also have a rheumatology appointment in a couple of weeks because he thinks that there is a rheumatological problem going on that could possibly be affecting the heart.

So, lots to think about.  One interesting thing to note is that I asked him about the cranial nerve dying in Spencer's brain and if nerve damage caused from Mitochondrial disease could affect some of the arteries and cause the passing out, etc.  He said it was a possibility.

I will go to my grave saying that these kids don't have a 100 different diseases.  They have 100 things caused by one disease.  We just have to discover what that disease is...


Sunday, May 5, 2013

Enjoying the ride...

...At least that is what I am trying to do, albeit not very successfully tonight.  It's hard to grasp how one minute you experience shear joy and the next moment, or in my case, at the same time, I am wrestling with tiresome thoughts of doing this for one more day!  Go figure.  I always knew I was 'special' like that.  Actually, I think they have a name for it...Bipolar...or is it Chronic Fatigue of the brain from life coming at you too fast!

This week is going to be an interesting 'Ology' week .  I have to set up appointments for a host of specialties: Neurology, Rheumatology, Gastroenterology, Pulmonology, and Cardiology, oh, I almost forgot, Podiatry for Sam to get his toenail yanked off.  I am done foolin' around with that crappy cellulitis.

In all this, I am trying to piece Shelbie together or at least try to keep her from falling the rest of the way apart!  She is struggling so much.  It seems that each day is a little worse than the day before.  She feels sick constantly and has zero energy.  I'm talking zero, zip, nada!

On top of the physical problems, she is clearly depressed.  I have never seen depression like this and it's not something I handle very well.  I am a fixer.  I fix things.  I fix my kids or at least think I am keeping them healthy or as healthy as they can be. You can't fix depression.

Shelbie is at a crossroads in life.  She is at that point when girls her age have steady relationships, boyfriends, plans for marriage and kids, school, careers, futures to plan.  Shelbie has deteriorated physically this year and it has been hard finding friends who understand her situation and can deal with it.  She has been on quite a few dates but after the 3 or 4th date, when they are trying to learn more about her, they find out the challenges she lives with and they are gone in a flash. It's kind of sad really.

Tonight, Spencer asked her to go to a fireside up on campus.  She flat out refused and got incredibly angry which was not even congruent with the situation.  She ran downstairs crying.  I went down and asked her what was happening and she just doesn't see the point anymore to trying to find friends, trying to feel a sense of belonging.  She has convinced herself that she is a nobody, a nothing and has no purpose in being here. She is going to miss Spencer in the most terrible way and her one and only best friend just left on a mission. So, to say she has a lot going on is an understatement.

I talked to our Doctor in Seattle about things and Shelbie opened up a bit too.  The doctor said this isn't uncommon for depression to surface at times of transition and change.  When she worked in Boston, they had a coping clinic to help their chronically ill patients get through these difficult times.  She is trying to get something going in Seattle but that doesn't help us.

I am at a loss.  This is something that feels beyond my realm of knowledge.  My heart just breaks for her and I try to help her but she takes it the wrong way so contention becomes the theme of every day.

Sam is on the same path I fear.  I talked to him about going back on some meds we dropped a few years ago and he is considering it which might help.  Even though great blessings await us and wonderful changes and opportunities abound, there is stress in all that too.  It's a lot to handle.


Thursday, May 2, 2013

Shelbie, Spencer and Samuel's updates...

The first thing Dr. S said when she walked in our room was, "Boy, you guys aren't really the picture of health you were last year."

I was quite surprised but it's true.  This past year has not been kind to us. The kids have struggled more than usual and infections have been rampant.

Shelbie is still stuck with an immune system that isn't working.  That means more IVIG.  As I mentioned in my last post, we tried a new kind of plasma called SCIG.  It is administered just under the skin as opposed to an IV.  It still takes some time to administer and requires a pump but it is done at home once a week.  She isn't keen on the idea but we will see how things progress.

She has had increased pain, respiratory problems, joint issues and the adenovirus rages on.  While examining Shelbie, Dr. S noted that she is lacking saliva and tears and wonders about more issues that could lead us to another diagnosis of Dyskeratosis Congenita, a disease even more rare than SDS or Sjogren's which is an autoimmune disease.

I found it interesting that the kids have the hallmark features of so many different diseases. SDS, Mito and Dyskeratotis Congenita.  Even I have some of the DC symptoms.

Basically, Shelbie has gone down hill since we saw our doctor last and it will be interesting to see how her marrow looks. When we get home, she will need to see a Rheumatologist to figure out the joint pain and swelling.

     I really thought Spencer's issues were all GI and bone marrow failure, so I was really surprised when orders were written to see a Cardiologist.  He has clubbing in his fingers which is getting worse.  It's a sign of oxygen not moving correctly through his blood.  His extremities swell and change colors so that is an issue too.  It's been happening for a year at least and getting worse but no one back home has had anything to say about it.

He too has been complaining of joint pain so it's of to the Rheumatologist for him too.  The GI problems continue to be something that no one can seem to remedy.  Spencer, and Shelbie too had to give up 20 tubes of blood for testing.

     Of course, Sam's big stuff is infection.  Cellulitis, C-diff and Colitis. The hospital freaked out when they found out Sam was still being treated for C-diff.  Everyone had to gown up, mask up and glove up.  We were quarantined to one room which actually ended up being a good thing and he was not allowed to walk around the halls of the hospital. He was not happy about feeling like a haz mat problem but, that's the way it goes.

      Sam won't need any special follow up with other specialties but he is getting a decent work up for immune problems since it has taken so long for him to get rid of these infections.  He will have to get to the Podiatrist we have been putting off to see about taking off that toenail.

      I asked the doctor about his knee problems and abnormal ACL.  She believes that you treat the symptoms.  If his ACL is abnormal, we should look into reconstruction so that it is in proportion to his muscles and other ligaments. Of course, we would need to consider the pros and cons of surgery.  For now, he is managing okay so that will be a tough one to decide.

The next few weeks will be busy and tiring trying to get Spencer to all these doctors and get a clean bill of health before he leaves.  The timing of this to me, feels horrible but I have to continue in faith, knowing that everything is going according to God's plan.


Wednesday, May 1, 2013

Ohh....big sigh

Wow, I am wiped out!!

We got to the hospital at 7:30 yesterday morning and didn't get to leave until after 6 tonight!  At around 5:30 the hospital went dark.  Completely dark!  A power outage.  When we left at around 6:30, I noticed that the stop lights weren't working but then I noticed the traffic.  Rush hour traffic times 10 since none of the traffic lights within several blocks of the hospital were working.  It took forever for us to get anywhere.

The entire morning was spent in Immunology clinic going over and over symptoms of each one of the kids.  Shelbie's immune system still hasn't recovered from Chemotherapy two years ago.  She will need to remain on IVIG or a new option SCIG.  SCIG is the same medication as IVIG only we would do it at home once a week.

It consists of two needles that are placed subcutaneously in her stomach then the plasma is pumped through.  They brought me a box of literature.  Literally, a 3" thick packet of things to read about this drug.  They insisted that she have a test run tonight.  Shelbie was not at all happy about that,  Not in the least but the nurse who came in to do it was super sweet and talked with Shelbie a long time before starting the procedure.  We have a few days to decide if we will make the switch.

The advantage to SCIG is that there are virtually no side effects.  A little soreness and itching at the site of injections but that's it.  No ER visits and meningitis.  The disadvantage is that she has two needles once a week instead of one IV once a month.

I can tell already that this will be a long, long post so I am going to break it up in several posts and just cover each kid individually.

Today is biopsy day!  I hate the schedule today.  The kids are all going in a few hours apart from each other so they will be scattered in different rooms most of the day.  I don't know how I will juggle it all but somehow, it will work out.  My sleeping patterns have been a mess since being here. I can't fall asleep until after midnight and I am wide awake at 4:15.  I try to go back to sleep but the combination of anxiety and pain is not conducive to sleeping.  Such is life.

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