Macy

Macy

Thursday, December 15, 2011

FANC genes

So we went in Monday morning and had Macy's blood drawn.  Luckily we were able to get what we needed for her regular blood draw (1-2cc) and research (needed 5cc and got 4cc).  After tapping out the veins in both of her arms; we decided to call the research lab and see if 4cc's were good enough before we started on her feet.  I am so glad they said they could do 4cc because I was really dreading having to poke Macy more than they already had.  I know I've said this before but her blood flows soooooo slow.  I am honestly surprised they got the extra 4cc.  The Dr.'s office has not called yet with her results, so I will probably call tomorrow during Macy's afternoon nap and find out the numbers I need to know.  Her results from her last blood draw 9/22/11 were as follows:


*WBC (white blood count--needs to be between 6-18, and is what fights off infection) Macy's was 16.95
UPDATE: 12/12/11 Macy's was 9.64


*Hemoglobin (needs to be between 10-14) Macy's was 14.2 which is a little high. 12/12/11 Macy's was 12.6


*Platelets (needs to be between 140,000-400,000, and is what makes your blood clot when you bleed)  Macy's was 253,000.  12/12/11 Macy's was 249,000


*ANC (absolute neutrophil count--needs to be between 1.5-6, and are a specific type of white blood cell that fights infection)  Macy's was 4.97.  12/12/11 Macy's was 1.58...that went down quite a bit and is barely in the normal range


*MCV (mean corpuscle volume--needs to be between 74-90, and measures the average volume of your red blood cells)  Macy's was 94.2 which means her red blood cells are a little larger than they should be.  12/12/11 Macy's was 87.9


**All in all still considered good but since her first draw in May I can definitely see a downward trend.


She also needs an ALT which measures the enzymes in the liver.  I don't have this info. yet, because I am not sure if they included this test before or not.  I will have to talk to her Dr. about it.  Even though a couple of her numbers are a little high she is still considered to be doing very well.  


We are looking forward to celebrating "christmas" this weekend with my family, and the following weekend christmas eve with Adam's side of the family.  We alternate years of whose side we spend "real" christmas with since Adam's family is about 2.5 hours or so away (longer in snowy weather) so we cannot do both in one day.  It's nice for Macy now because she gets 2 christmas's...well 3 kinda because we always stay home for christmas day and do our own as well.  One present we were not expecting was that Adam was rear-ended this morning on his way to work.  Luckily no one was hurt, but is still a big headache to deal with.


No news on Macy's complementation group results yet.  We should hear something in the next 4-6 weeks.  I am on pins and needles.  I really hope she's FANC-A; which is the most common.   Did I ever explain what that means?  I can't remember.  It's kind of long and complicated, but I'll try to do a really short summary.  


Basically, everyone has the FANC genes.  These are what send the signals in the body to repair damage in the blood.  Right now there are 15 known FANC genes.  FANC-A is the biggest.  Everyone gets continuous damage in their blood cells that result in these little breaks in their chromosomes.  This damage comes from many things around us.  Toxins from the food you eat and water you drink, alcohol including products with alcohol in them, smoke, the air, chemicals in toys and your clothes, etc.  and radiation from the sun, microwave, xrays, etc.  There are even toxins, etc. that are produced from your body just from being alive.  


For most people, your body instantly starts repairing these breaks, which prevents you from getting cancer, and having your bone marrow fail.  Children like Macy whom have Fanconi Anemia have a FANC gene that does not work therefore, the signal to repair breaks does not get through.  Instead of their body fixing and neutralizing these toxins/radiation, their body has to find other ways to try to repair itself which is ALOT slower, and not as effective.  So over time, all of this builds in their body and they get cancer very young, and their bone marrow fails.  This usually happens by the age of 10 years old.  This is also why many children with FA have a range of birth defects.  When the embryo is forming certain signals do not always get through because of the FANC gene that does not work.  For example, with Macy the signal for her hand plates to form, and kidneys (which form around the same time-week 4-6) did not get all the way through so she has a horseshoe kidney and her thumbs are under-developed.


So, I guess that wasn't a short summary, but I tried.  But that kind of explains why we have to be careful about Macy being in the sun, being around people that smoke, using any products with alcohol in them, and trying to keep her from getting sick as much as we can, etc.  All of this damages her system and leads her closer and closer to bad things.  We try our best to find a balance between keeping her safe and letting her live a normal life.  It's not always easy knowing what that is, but we do our best and try to take it a day at a time.


Anyways, onto the best part...


Here are some recent pictures of Macy:
Macy loves playing with her fridge phonics

Her favorite thing to do right now is take the letters off the fridge and throw them under the stove...hehehehe

She loves reading her own baby book

Trying out her winter hat

Pretty in purple...giving a serious look for the camera
I have a bunch of really cute pictures I took of her today where she has her beautiful huge toothy smile.  I haven't downloaded them on my computer yet; but will try soon.


Happy Holidays everyone!


Jenn

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