Tuesday, August 9, 2011

positive

My family has a blood disorder called hereditary spherocytosis.  My mom is the carrier and gave it to (ha, you can't really give it) all of 5 of us children.  Yes all 5.  Our picture is up at the doctor's office of all our scars from surgery.  We are famous, haha!  So there is a 50/50 chance of passing it on, yeah not to shabby of odds but it turns out the our odds were high because Mya has it.  Now it's not really a huge deal, but I started crying when the doctor told me the results. I just felt terrible for her and I  wanted Mya to be able to live and not worry about getting sick or having surgery when the time comes, yes that time will come.  Mya will still live a normal life and hopefully will never be affected other then surgery.  But, it can be scary and even deadly if it's not treated right.  Hereditary spherocytosis is a genetically-transmitted (autosomal dominant) form of spherocytosis, an auto-hemolytic anemia characterized by the production of red blood cells that are sphere-shaped rather than bi-concave disk shaped (Donut-Shaped), and therefore more prone to hemolysis. So what happens is, the spleen thinks the sphere-shaped blood cells are bad and gets rid of them and keeps the bad blood cells that are full of yuckiness and therefore donut-shaped.  This leads to enlargement of the spleen which then drops below the rib cage and is exposed.  So if we were ever hit and it ruptured we would die.  Also, if we get sick the bone marrow sometimes can't keep up with making the blood cells and shuts down and we go into an a-plastic crisis and could die.  It sounds very seriously and is but is pretty easily treated.  Once we have been diagnosed the doctor will put us on folic acid and we have checkups a few times a year.  The doctor will watch the spleen closely and then determine when it needs to come out.  Usually it's just before kindergarten.  This is actually why I started crying.  I don't want my 5 year old to have surgery.  I remember mine and although I had severe complications surgery is never fun especially for a little innocent child.  Once the spleen is removed the liver takes over and life goes back to normal.  The only effects are that when you get sick you are usually sicker than normal and it lasts longer.  Nobody would ever know I have this disorder unless you saw my scar and asked how I got it.  I am just feeling a lot of emotion today and sad for my little girl.  I know it could be worse and it's really nothing to complain about but I'm still sad for her. It's interesting to me that the only grandkids who have it so far are two of my sisters kids and one of mine.  I wonder if being the carrier of the disease and the carrier of the baby have anything to do with it?

4 comments:

April said...

Oh Emily I'm so sorry! Its so hard as parents to see our kids get sick and suffer. I am sorry it came out positive but sounds like they can help her when the time comes. I hope in the meantime she can stay a healthy happy little girl. She'll be in our prayers. so sorry!

Lyndsi said...

you got me....I surely thought "Positive" meant you were pregnant! :-) I can't believe she has it....dang.....I thought she was in the clear. I hope everything goes well when the time comes!

Lauren Bingham said...

Oh emily, I'm so sorry--that's such a bummer. Really glad to hear it's manageable and hopefully you're not just being overly tough when you say it's not too bad ; ) Surely Mya will have inherited that toughness when it comes time for the surgery.

ashley @ little miss momma said...

Emy, I had no idea!! I am so sorry! I share the same fear you described. Even though I know our kiddos will grow up to be healthy and beautiful even if they test positive for the disorder, we still don't want them to have to live with it. Mya is beautiful and healthy and is being taken care of by the best parents in the world! Love you and her times a million!