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Showing posts from May, 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,…

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 tea…

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.

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!

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 ea…

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…

Spencer has a heart

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 s…

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 feel…

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 Sj…

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 thi…