Friday, November 28, 2008
We just back from Katlyn's appointment at NIH yesterday and things went really well. Apperently they have been looking at some of their other patients with ADA SCID for the DFSP. Surprisingly it seems as though they are definetly linked with Katlyn's condition. They checked out 6 of their other patients and 5 of the 6 also have DFSP. The very interesting thing is that these patients also have multiple tumors just like Katlyn. Where it seemed impossible before for Katlyn to have 13 of these tomors because it has never been reported that a patient has had more than one, it is just comfirmation that we have the right diagnosis. Also one of the patients is 10 years old so it lets us know that these tumors are not going to go crazy tomorrow and we do have time to surgically remove them. They are offering their patients three options; they can have Moh's surgery, chemotherapy or they can just be under observation. We feel very comfortable with surgery, which will be happening any day now. Usually with Moh's surgery they will take a 3 cm border around the tumor and deep to ensure they have gotten the whole tumor. because Katlyn's tumors are so small, the doctors are going to try a 1 cm border with the first surgery. For that reason the first surgery involves taking one tumor and then taking a close look at it to see if it will work. The surgery will be any day now and we're pretty anxious to get started.
Besides that Katlyn's lab results to indicate some change. For starters, for a little girl who didn't have any ADA activity before, she is now 2/3 normal. What does this mean. Hopefully it means that the ADA gene will filter her body of toxic matobolites and she won't have anything killing off her cells. At this time her numbers are still low, but we are confident her lymphocytes should take off at anytime now. For a little girl who usede to have a lot of problems with her neautrophils, she no longer does. Everything seems to be taking its time, but overall things are getting better. Someday I believe Katlyn will be deemed normal and healthy.
So her doctor's in the US think she should get her flu shot. It came to a surprise to us, but they say it won't hurt her and there is a possibility it may work. Also we no longer have to take Katlyn to the hospital for regular blood work. They said there is no reason to check her any sooner than her appointment next time in February. So unless something comes up we will no be going to the hospital as much anymore. Lastly, the doctors also feel as though it's time we start to try and get Katlyn off IVIG. She has shown signs she is starting to make her own antibodies. We will not know if she's ready to be off the IVIG unless we try. So we're going to just start going for longer periods of time between each infusion. It's a bad time of the year so stopping completely isn't a good idea but going for six weeks and then longer and longer is what they suggest at NIH.
Katlyn is doing very well. We believe it's possible she got her first cold. All we know is that her nose was runny and she compalained of having a sore throat. That has all got better though....on its own!!!!