It's been a while...

2/8/2010 Monday

We’re FINALLY updating the blog! A little and a lot has happened since our last update…I decided to wait until today as we just came from an appointment with the hematologist.

Backing up a bit, things have been going very well in the last 2 weeks. William was healthy and as always has been handling his 3X per week finger pokes like a champ! No tears as usual. We got up early on Saturday and had Sarah our wedding photographer over to take some 1 year photos of him. We had some cute ideas and had a great visit. (She is a teacher in Paul’s district as well). We did have to work a bit to get William to smile though and he tired easily.

We noticed after William’s morning nap that his fingertip (the one that was poked on Wednesday) was red, swollen, and the poke site was turning white. Basically bad news, he had an infection! We called the on-call hematologist and he recommended putting some antibiotic ointment on it and waiting a while to see if that helped. He said to wait maybe 6 hours, then go to the ER if it had not improved.

I was lucky enough to get to go to a movie with my friend Elizabeth that afternoon and I was really excited. After I got back from my movie we checked his finger again. Of course it had not improved, we felt that it looked worse. (The only good thing about that is: William has low neutrophils, the white cells that fight bacteria and make pus…in this case it was a good thing that his body was able to make this reaction happen). We packed up a diaper bag and headed off yet again for Children’s ER.

We were anticipating I.V. antibiotics and a possible dose of GCSF (the drug to raise his neutrophils). We were pleasantly surprised to be sent home quickly with 2 oral antibiotics and instructions to let him play in warm water to soak his finger. Yay! (They also knew we’d be going in for our appointment in 2 days so they were satisfied by that.

The plan for today’s appointment was to find out about the genetic testing results. (We have been waiting on these for about 8 weeks). It turns out that the results are STILL not officially written up and reported to our hematologist, but she was able to call and talk to someone who told her that all of them came back negative.

His means 2 things on the surface… 1. We still don’t know why William has neutropenia and 2. There were no genetic mutations that showed up on the tests, which is a GOOD thing!

Digging deeper, there is a lot to explain. Think of the issues he could have in two categories: Production and Circulation of the Neutrophils. Production meaning: how his bone marrow makes the neutrophils. Circulation meaning: how his body takes the produced neutrophils and sends them out into his blood stream.

On the production side, the genetic testing could not find issues with ELA2 and Hax1 genes. Often when they find a mutation on one of these two genes they see that the person has something called Kostmann’s disorder, more commonly referred to as Congenital Neutropenia. This is permanent and the patient has to be treated with high doses of GCSF to keep them healthy. The uncertainty remains though, as some people will still have this form of neutropenia and will not show the genetic mutations.

The other production issue could be Cyclic Neturopenia, where your neutrophil leves cycle from low to nearly normal and back again over a few weeks time. So far Will’s fingersticks 3x a week have not shown any signs of cycling, but at this time we need to keep watching just to make sure.

On the circulation side, the potential issue would still be Autoimmune Neutropenia, sometimes called Chronic Benign Neutropenia of Childhood. (I blogged about this form of Neutropenia explaining it more on 12/18/09). This is something that most children grow out of by age 2 and would be our ultimate diagnosis. There are things that point towards this, but other things that point away from it.

First William has an antibody present in his bloodstream that seems to be killing off the produced neutrophils as they enter. (Autoimmune neutropenia has/does this, which points us towards it). William’s neutropiena has presented itself a lot sooner than the average child who has this though, which points us away from it. Also William has had a few infections through all this…most kids with autoimmune neutropenia do not have many health issues other than low neutrophils, another thing that points away. The interesting thing is that if he does get a diagnosis of autoimmune neutropenia, it CAN be caused by a virus…ahem H1N1 anyone??? (Dr. Schultz is not discounting this theory either).

Dr. Schultz has decided to stay on our course right now. William is staying generally healthy and she does not see any reason at this moment to put him through more tests to narrow these options. Some of the tests could involve another bone marrow biopsy, and/or putting him on something called IVIG Intravenous immune globulin (IVIG). IVIG is a mixture of plasma parts taken from thousands of people’s blood antibodies. Putting these into William’s bloodstream would cause what I would call a windstorm. His body would kick into high gear to fight off all of the antibodies introduced and would then hopefully “forget” to keep producing the antibody he makes that kills off his neutrophils. There is some risk involved as there is potential to cause temporary allergic reactions and to infect him with viruses that could mistakenly be present in the blood plasma. (I took that as he could get infected the same way anyone who gets a blood transfusion could). The IVIG could confirm for us though if William really has Autoimmune neutropenia or not.

To sum it up, we still don’t know why he is neutropenic and it seems like we may not know any time soon. Maybe another year will pass and this will all be over. Who knows! In the meantime we have to finish his 6 week course of finger sticks 3x a week and continue to watch him for infections and take care of them. We will meet with the hematologist once a month to stay on top of everything. Dr. Schultz did send out a blood test today to see if the neutrophil killing antibody is still present and I think we’ll hear back on that one sometime soon.

Paul and I think we can handle all this for now. We’re so lucky for the bits of good news and thankful that things are not worse. The only thing that saddens me is that throughout all of this drama we feel like William has not been his normal perky, smiley, self. He tires more easily too. I asked Dr. Schultz if there is a correlation between low neutrophil counts and lower energy levels. She said, “Absolutely!” I just feel like we’re missing out on a little piece of the boy inside. It makes remember how precious every smile, every giggle, and every moment he acts like crazy man are!

We will celebrate like mad this weekend as our sweet little boy turns 1!

Love,
The Moeller’s and our Little Monkey