Wednesday, 4 May 2011

Limbo

Well, the good news is that there is a small chance that Nicolas does not have sickle cell disease. The bad news is we won't find out for three months or until he has a sickle crisis, whichever comes first.

Remember how our pediatrician said that Nicolas had some very odd blood work? The hematologist also thought it was very odd, and he has two theories.

Just for review, each human has two hemoglobin producing genes that are co-dominant. Most people have two genes for normal hemoglobin, A. However, all people are born with another type of hemoglobin, fetal hemoglobin (called F), and this F hemoglobin is almost completely replaced by adult hemoglobin by age four to six months. People with sickle cell trait have the gene for normal hemoglobin, A and for sickled hemoglobin, S. People with trait generally live normal lives, although there is the possibility of complications in certain conditions. People with sickle cell disease can have a few variants, but most common in people of African descent are SS or SC.

Currently a little over half of Nicolas' blood is sickle cells, and a little under half is fetal hemoglobin. Theory one is that Nicolas has full sickle cell disease, but for some reason Nicolas' body has continued to produce fetal hemoglobin longer than usual, but that this production will cease and he will eventually have full sickle cell disease. Some individuals with sickle cell disease have higher than normal rates of fetal hemoglobin (although the good news is this is associated with less severe forms of the disease). Theory two is that Nicolas actually has two inherited blood disorders- the first being sickle cell, and the second being hereditary persistent fetal hemoglobin, a disorder in which a person inherits a gene that causes the body to produce fetal hemoglobin in place of normal hemoglobin. The hematologist was careful to emphasize that the second option is statistically very very unlikely, and that he didn't want to get our hopes up. He said "I don't want to get your hopes up" many times over the course of the conversation. If the second theory is true, then Nicolas would have an almost normal life, living as a carrier of sickle cell trait with a higher chance of complications than most carriers, but his outlook and options would be much better than if he had sickle cell disease.

As for the long wait, apparently these tests aren't cheap to run, so they only run the test for persistent fetal hemoglobin if fetal hemoglobin levels are still high at one year of age. Thus, a few weeks before Nicolas turns one (because the doctor said we could push it a little), we will head to the lab yet again. They will first sort out his hemoglobin, and if his fetal hemoglobin levels remain high they will do the further ($$$) test to see what exactly his genes are telling his body to do. If not, they will know he has sickle cell and hopefully finally tell us what types of sickle cell it is.

In the doctor's good news column (he made hypothetical columns throughout the appointment), Nic's spleen is currently totally normal, and in a child with sickle cell disease it is enlarged about 50% of the time, also he has yet to have a pain crisis that we know of or dactylitis, (the swelling of fingers and toes that can occur in babies with sickle cell). In addition, his iron levels really aren't that low (9.6), and he is growing well thus far. In the bad news column is Nic's umbilical hernia, which the doctor didn't mention, but that I know from my research is very common in kids with sickle cell (although it is also very common in Africa generally).

The hematologist is having us move forward under the assumption that Nicolas has sickle cell disease, because he believes that is the most likely outcome and thus the safest way to proceed. Nicolas will be starting prophylactic penicillin and getting a bunch of vaccinations very soon. If he has a fever of 101 or more we will be calling the doctor and heading to the emergency room. If he has a bout of dactylitis, a pain episode, or a spleen issue then that will confirm the sickle diagnosis, but if that doesn't happen in the next three months then we will have to wait for the tests to tell us what is going on.

Obviously it is very hard for us not to get our hopes up. It would be amazing if Nicolas had two crazy genes instead of one if that combination meant something better for his quality of life. We know that the doctor thinks this is highly unlikely...but that won't stop us from praying for it. Even if Nicolas does have sickle cell disease, it was nice to know that it might be a less severe form than we were expecting, based on his high fetal hemoglobin levels and his current iron levels (the nurse at our pediatrician's office had told me Nic's iron was very very low, but 9.6 is actually not that low) as studies have shown that very very low iron levels during infancy (7 or so) correlate with increased severity of disease later in life, and higher iron levels with less severe forms.

So, once again we wait. At least we have a lot of practice in this department. Tonight, I am ok with this news, if only because we were expecting such bad news going into the appointment that the chance of really good news (even if we have to wait for it) seems better. I will probably feel differently next week when the planner/control freak in me realizes that I would rather know horrible news than live in limbo for three months, but for tonight, I'll take it.

Our prayer for the next three months is that we will wait without going crazy, that this time of adjustment and becoming a family will continue to be saturated in joy, and that we would always be mindful that parenting Nicolas is a beautiful privilege that God has bestowed upon us, and one for which we are so grateful.

6 comments:

Sweet Apron said...

I have been checking on news all evening.

Now I know EXACTLY how to pray.

ktruelove said...

Praying lots! So thankful that Nic's current health is stable and that there's even a chance for possability #2. Thanks for the update. Love you guys!

Tom said...

Nic is in our prayers.

Love Dad

Hannah said...

We'll be praying for Nic and you all :-)

The Knudsen family said...

Have I mentioned you are amazing parents? To amazing kids, no less. ;) Praying for all of you!

mary said...

"Our prayer for the next three months is that we will wait without going crazy, that this time of adjustment and becoming a family will continue to be saturated in joy, and that we would always be mindful that parenting Nicolas is a beautiful privilege that God has bestowed upon us, and one for which we are so grateful."

Amy, a really beautiful prayer - I cut and pasted it into my prayer list. Thanks so much for blogging and allowing us to be a part of your journey.