Thursday, 28 April 2011

Most Likely

Nicolas most likely has sickle cell disease. I'll write about the insanity that was my afternoon below, but cut to the chase up here. People with sickle cell trait have a mix of sickle cells and normal cells. People with sickle cell disease (there are a few types) tend to have either all sickle shaped hemoglobin or the vast majority sickle shaped hemoglobin, sometimes with a little normal hemoglobin for one variant...but very little. Nicolas has sickled hemoglobin AND something else the pediatrician has never seen before. Nicolas has hemoglobin that is not sickled, but also not normal (and, from what the nurse was saying, oddly high in iron, whatever that means). Long story short they are passing us off to the hematologist to let him figure out whether Nicolas has sickle cell disease or trait (I earlier wrongly described trait/carrier as having a recessive gene, the genes are actually co-dominant, but if you have only one you can live a normal life), but when the pediatrician was forced to guess, he guessed that he has sickle cell disease. Until we know what type he has we won't know much about what to expect. Although there are no guarantees, on average the different types have different outcomes and we are talking a huge difference, for example, people with SS type have an average lifespan of 42, and people with SC type have an average lifespan of 68. We are processing this information as best we can without having the complete picture of what this means for us. We are thankful that we got Nicolas home before he developed any serious complications, which is miraculous considering all of the things he could have been exposed to. God protected him, and we are so grateful for that. We are further grateful that we have good healthcare that is allowing us to go see a specialist at U of C, thus Nicolas should be receiving excellent care in the future. God has been very gracious to our son, both in placing him in a tiny orphanage that limited his exposure to illness and in protecting him from complications from his extensive nasty yeast infections. We are amazed at how healthy (and huge) he is considering his blood doesn't work the way it should. Really, truly, amazed.

So, onto how this was all I shared earlier the nurse called at two and gave me the number of a hematologist and told me to schedule an appointment with him. She said that Nicolas had abnormal blood counts for iron, and that he had some very low iron hemoglobin and some high iron hemoglobin. When I asked her specifically if he had sickle cells, she said she did not know and she would have the doctor call me.

I called the hematologist and left a message.

About an hour and a half later the nurse from out pediatrician's office called back. She said Nicolas tested positive for sickle cell. I asked if he had the full disease or if he simply had the trait, she said she didn't know because they didn't test for that, but I could call the hematologist and find out if he thought they should test to find out, and that the doctor had left for the day so she would ask him what he thought tomorrow (Imagine how mad I was at this point). I told her that we thought they were specifically testing to see if he had trait or disease, and that I wanted to know if they did or not, and could she ask one of the other doctors in the practice to look at the results and let me know.

She called back a little later to say that she talked to the doctor and he looked at the results and didn't know if it was trait or disease, but he said I could call him if I wanted to. Guess what? I wanted to. So, I called.

What the doctor told me (and should have had the nurse tell me during that first phone call, in my opinion) was that Nicolas had some sickle cells and some other blood cells that look like nothing he had ever seen before, so he didn't feel comfortable giving me a firm diagnosis because he was in over his head on this one. When I asked what his best guess was he said sickle cell disease, but that there was still a small possibility that it could be categorized as trait (I think he was covering his behind on that one...Illinois is an absurdly litigious state when it comes to medical malpractice). At that point he was ready to hang up the phone, and so was I, but then I had a thought- might this change how we should be treating Nicolas? So I asked, and lo and behold, there are plenty of things that a parent of a child with sickle cell disease might need to know that he just wasn't planning on telling me. For example, if Nicolas is sick (guess who has a cold right now?), I need to keep an eye on his temperature because a fever over 101 is considered an emergency. In fact, if he runs anything above normal I have to phone the doctor right away. Also, I need to keep an eye on his spleen and his hands and feet because those are often indicators of serious problems. AND HE WASN'T GOING TO TELL ME ANY OF THIS. Even though our pediatrician believes that Nicolas has sickle cell disease, he was just going to wait until whatever time the hematologist decided to call me back and pencil us in to let us find out. The hematologist still hasn't called, by the way, and when the office does it will just be to schedule an appointment, which means we might have gone a week or two without this important information. Oh, I am so steamed about how this was handled.

On top of all that, Tommy was in a foul mood all afternoon. He wouldn't nap because Nicolas wasn't napping (Nic napped in the car when we drove my mom to the airport because her time with us has unfortunately come to an end), and he really couldn't fall asleep anyway with me running back and forth to answer the phone and make calls. He is not quite at the point where he can skip his nap, so he was just cranky and whiny all afternoon, until he had a full meltdown and cried for 45 minutes before finally falling asleep on the couch. And, to add insult to injury, we just found out we are having our adoption tax credit reviewed (like half the adoptive families we know), which means I have a mountain of paperwork to gather and send in, and the IRS has some fairly unreasonable expectations about receipt issuing in Africa. How many chapati stands issue receipts? NONE.

Enough ranting, I have a husband to snuggle with and milk and cookies to eat. One bright spot in our day was that we had a super yummy dinner that I didn't have to cook because we have amazing friends at our wonderful church who are bringing us "new baby" meals, and tonight's meal came with a massive box of cookies. Just what the doctor ordered...


Taryn said...

Man, Amy, what a day! I am praying for you and little Nicolas!

Haley Ballast said...

Wow... we will keep you guys in your prayers. What a roller coaster. I am amazed at how well you seem to be handling this Amy! Praying for grace and strength for all 4 of you.

Sweet Apron said...

Praying. Enjoy cookies & husband cuddles-Kelly's chocolate chip rock!

ZRebeka said...

I am praying for you and for little Nicolas!

Kim said...

Praising God for your expanding family and for Nicolas and this diagnosis!

mary said...

Oh, Amy, I'm so sorry for the news. Praying you get more clarity soon and for your heart as you process this information and keep entrusting your baby to the one who made him. In Him, Mary