Thursday, August 8, 2013

Just Smile

Sometimes, there's nothing to do but smile - one of those big inappropriate smiles that comes from the depths of a mother's crazy soul (um. let's face it. Mother's are a breed all their own. We're all a bit off...some more than others clearly...but anyway...back to inappropriate smiling...) After the inappropriate smiles come the ear piercing cackles. The cackles sometimes consist of audible curse words - so cover your ears little ones - ear muffs. After the cackles comes the heart breaking silence. Just a sea of nothing between the fog so thick one can't even breathe and that final acceptance and clarity.

I am on the verge of cackling - so we're ok right now. 

Everett had his blood work rechecked today. What I thought would be a few minutes and a whine or 2 from a finger stick turned into an hour wait because the doctor wanted to make sure to see us personally (we only had a nurse's visit on the schedule so we had to be fit in). Once in the room, the nurse was overly formal with the computer work, really quick and efficient with the finger stick, then painfully slow at getting the results...probably not - but that's what my neurotic little heart processed while waiting and throwing a half ton of gold fish crackers at the big kids while they drew murals on the table paper and learned phonics Ipad style. (how's that for a nice fat run on sentence?)

(before I move on, it should be noted that Everett is OK. The following is what we've found out, how I found out and what considerations need to be kept in mind from here until we see the pedi hematologist. After that visit, some of this may change. However, the diagnosis is very likely correct from what I've been told.)

Our dear pedi entered. I tried to read her. She's a hard read. Then she sighed. She's much easier (to read) when she sighs. Then she looked at Everett and I started to cry. She said Thalassemia and a ba-jillion questions entered my mind but I couldn't focus on even half of one. She said Leukemia was pretty much ruled out because Everett's white cells have been stable. But, his blood work had only marginally improved. (I know, you're still on Leukemia right? ruled out...try to let it go)

For the medical pros and curious among us: Everett has been on ICAR for exactly 2 weeks today - 15mg / 1.5 mls ; 1.5 mls daily

7/25/13 - first CBC
Lead: 5.1
WBC 7.5
HGB 8.6
HCT 27.8
MCV 60.5
MCH 18.9
PLT 285 (low normal)
MPV 7.2

8/8/13 - second CBC (no lead repeat - moderate range in first screen)
WBC 8.9
HGB 9.2
HCT 29.5
MCV 62.9
MCH 19.7
PLT 209
MPV 7.5

normal ranges:
WBC 6-17
HGB 10.5 - 13
HCT 33-38
MCV 70-84
MCH 23-30
PLT 250 - 600
MPV 8-11

Essentially, this means Everett is anemic and his red cells are very small. There is still some concern that an iron deficiency anemia is contributing to the abnormal labs. But the general feeling is that Everett has Thalassemia Trait (or Minor). This means he carries and is chemically affected by the genetic mutation that is Thalassemia but he does not physically express the disease process. He's heterozygous for one of the forms of Thalassemia. (I invite you to review your high school Punnett Square genetics lessons *grin*). 

Concerning? yes. End of the world as we know it? no. He's still the healthy smiling sweet poop a doop (as Granny calls him) he's always been - and he'll continue to be so. Right now, this means we need to know his blood work will always appear very concerning - always irregular. We might have to have checks every so often so that we can know his normals in case a situation should arise where such information would be important (blood transfusion parameters and processing). He will also need to keep this in mind if he chooses to have children (in 30 to 45 years...I'm softening ha). If his spouse (um. hoping - ha) should carry the same genetic trait, the baby could have Thalassemia Major which is devastating. 

Why are we so shocked? This is a genetic mutation that tends to run in Greek and Mediterranean blood lines. Umm...if we have relatives in Greece, be forewarned to make a bed Sug because I'd like to come and visit! Furthermore, you may or may not have noticed the whole super white kid / fair hair, light eyes, freckled face thing we have going on here...this was just not even close to being on our radar.

So, right now, we are waiting on a call from the pediatric hematologist. (Because, you know, we don't have that "ologist" in our contacts just yet.) He will (likely) run further (more specific) testing which will hopefully offer a more complete picture on our little Everett. If this is Thalassemia Trait, Everett would not need further care or any treatment at this time- there's nothing we can do and his body seems to have compensated well for his deficiencies. We will simply have the information if or as we need it.

We have Mary Louise's allergy testing at the end of next week and an ENT check up (where we will likely learn if an adenoidectomy will be recommended (please...please no)). So, I'll be updating on our family medical status quite a bit for awhile...

Many many many thanks for the check ins, thoughts and prayers...sometimes all I can do is smile...or maybe cackle (ha!).



  1. If any family can get through this, your family can!! You've shown to be so strong and courageous through your circumstances you've faced over the last 4 years! Praying for y'all! :)

  2. My friend's grandchild has this and is an active/normal toddler. Just as you said, they are puzzled because their family doesn't fit the diagnosis profile (for lack of a better term). No medications were needed in her case, just the information. I taught siblings with the major disease and they were bright and seemingly healthy, but they were always St. Jude patients and spent many hours at the hospital. It was tough to see what they had to go through. Trudy

  3. Heather my mother and I have thalassemia as my grandfather had and at a similar panicked visit discovered Amelia also carries the trait...I lived 18 years without mom most of her life...I was a cheerleader and did many activities that you would think would be hard...I now understand the constant cold hands and feet and the extreme anemia during menstrual times....but I had very healthy pregnancies and no need for blood however can't have thalassemia without one parent also having the grandfather was full he passed it to my mom and she passed to me and I passed to husband also has Italian blood line so we were scared of the traits turning to major...thankfully it did not let them give him iron as it would do more damage...they wanted to give to Amelia but before we did that I asked for more tests...we are anemic without the iron's just that our red blood cells formed too small...also we are not allowed to give blood because it would be mutated and we are the ones that could need the blood one day...on a positive note my mom did research and when there were malaria outbreaks Italy those with thalassemia survived! would love to share info with you