Saturday, 4 August 2012

Another 6 Months, Another Data Point: A Nic Update

Nic had his hematology appointment this week. Everything is looking good all things considered. His growth continues to be on-track, he is slightly below average for weight and slightly above for height. His iron levels are high, and his fetal hemoglobin is at 30.5, which is another drop, but not as big of a drop as last time. Hopefully it will stop dropping and level off soon. The higher the level that his fetal hemoglobin stabilizes at, the healthier he will be long-term.

The doctor explained that Nic may have won a genetic consolation prize with his fetal hemoglobin. While the basics behind sickle cell are simple - inherit two genes that together give you blood that just doesn't work properly - there are degrees of sickness even within homozygous sickle cell (what Nic has) and some people have genes that keep their body producing fetal hemoglobin at higher levels, which helps mitigate the effects of the disease (this is different than having sickle/HPFH). There are two types of fetal hemoglobin production in patients with sickle cell, fetal hemoglobin that is more clumped up vs fetal hemoglobin that is more diffuse (better). The doctor ran a test to see which kind Nic has and it came back inconclusive. So, it's one or the other but they just couldn't tell. Guess we'll be waiting another six months to find out. Story of our lives.

This week Nic will go in for his Trans-cranial Doppler. This test, which is an ultrasound of his brain, will check his blood vessels to see if he will be at high risk for childhood stroke or not. Strokes are a common complication of sickle cell disease, and one that we hope to avoid. If they determine that he is at high risk for stroke then he will have to take more medication. He is getting a higher dose of his daily penicillin now that he is two, and as of now that is the only medication that he will be on for the foreseeable future. There is a drug that was approved for use by kids with sickle cell fairly recently, but as it works to increase fetal hemoglobin (which Nic already has in good numbers) the doctor does not want Nic to take it. Like any drug it has serious potential side effects and risks, and the doctors in our practice feel that children should not be put on it if their fetal hemoglobin levels are above 20.

It's been five months since our last ER visit, and I was telling our nurse how happy I was that we haven't found ourselves there recently. Then Nic caught a summer cold. I am really really hoping it doesn't turn into something more because I hate torturing my child with needles and x-rays, parting with $100, and losing four to six hours of my life to have a doctor confirm that Nic has a virus! Or worse, accuse me of making up Nic's diagnosis (I have a beef with one of the doc's who works the ER and thinks that Nic's iron levels are too high for him to actually have sickle cell). So for those of you who keep our sweet little guy in your prayers, please pray that he will kick this cold without running a fever, and that he will continue to have high fetal hemoglobin and overall good health. We have been so fortunate that our experience with sickle cell thus far has been much easier than what many families face. It's a small victory, but it's a victory nonetheless.

1 comment:

Tom said...

Great news! We will continue to keep Nic and the family in our prayers