Two years ago I never thought a doctor's phone call would leave me just as excited as having a baby! Ok, maybe not quite that much, but enough to get me bouncing off the walls!
Earlier today our immunologist called us to inform us that Cole was finally accepted into a study regarding his IL-10 receptors. Since gi brought it up last spring, immunology has been looking and trying to get Cole evaluated by a researcher looking at IL-10. Since this particular study is newer, from what we've been told, it has been a bit of a challenge moving ahead. Either way, after months of waiting, that is behind us, and as soon as the special blood collection tubes arrive here at Children's Hospital we will be forging ahead.
Why did we need to consent to another research study? According to our doctor, CD-16 and Cole's nk deficiency are completely separate issues from his gi issues, which the IL-10 could be related to, thus the need to delve further into this particular sequencing and in a totally different study.
Unlike our last genetic testing which took almost two months for answers, results will be available after two weeks of not only Cole's sample, but mine and Nick's as well. As much as I am bubbling over like a bottle of champagne, I am also anxiously awaiting answers. I can't even explain how incredible it would be to have more information to shape Cole's treatment as well as to help direct our sails. Instead of drifting without a map, we could chart a stronger course towards our goal of keeping Cole healthy and happy.
I know there may not be a final answer in all of this for some time, and for now, while we often feel backed into a corner, left with very few options, new answers may just be around the bend. The work from this study can change where we are, be eye-opening, giving Cole's physicians missing pieces of a puzzle so they can finally see what it is they have been trying to construct. Honestly, I cannot express how hopeful I am for what lies ahead, instead I'll just keep doing the happy dance in the kitchen for today. Just so incredibly excited!
Showing posts with label IL-10. Show all posts
Showing posts with label IL-10. Show all posts
Monday, October 8, 2012
Saturday, August 25, 2012
Processing
Yes, as a handful of you know, we have some answers. I have been trying to take it in and process where we are before writing.
Although we have a clue, in many ways, we still know very little. Basically a genetic mutation was found in CD-16 in one of Cole's blood marker tests. Doctors here believe this is the root cause of his nk cell dysfunction, yet they are waiting for further discussion with the consulting expert. As it was explained to us, at this point in time, Cole is only the eighth individual found to have this mutation. Keep in mind, many findings in immunology appear like this, as some of their studies are fairly new, with novel discoveries every year.
So far, this means nothing different for Cole. He is still very susceptile to the herpes class viruses like chicken pox or mono. For now, until we hear from Texas, his course of treatment is the same. Down the road, he will most likely be on an anti-viral regime to help ward against these invaders. Bone marrow transplantation is also an option, yet not what our phuscian is recommending at this time.
Since CD-16 has no connection to Cole's gi issues, our doctors are still persuing the IL-10 testing. Thanks to a very kind family across the country, our doctors have been able to contact the expert treating their son with the IL-10 receptor deficiency. Hopefully, this contact can offer our experts other avenues where they can explore their hypothesis since there have not been answers regarding studies where they have requested Cole to be a subject.
Clearly, we have had quite a bit to absorb this week, not to mention the ripple effect of choices and various emotions that are part of the package with this type of news. In the end, not much has changed, we've been doing what they've recommended now for a year, so this isn't really a new normal anymore, just our normal. Which, as long as the kids are thriving, I'm perfectly fine with.
Although we have a clue, in many ways, we still know very little. Basically a genetic mutation was found in CD-16 in one of Cole's blood marker tests. Doctors here believe this is the root cause of his nk cell dysfunction, yet they are waiting for further discussion with the consulting expert. As it was explained to us, at this point in time, Cole is only the eighth individual found to have this mutation. Keep in mind, many findings in immunology appear like this, as some of their studies are fairly new, with novel discoveries every year.
So far, this means nothing different for Cole. He is still very susceptile to the herpes class viruses like chicken pox or mono. For now, until we hear from Texas, his course of treatment is the same. Down the road, he will most likely be on an anti-viral regime to help ward against these invaders. Bone marrow transplantation is also an option, yet not what our phuscian is recommending at this time.
Since CD-16 has no connection to Cole's gi issues, our doctors are still persuing the IL-10 testing. Thanks to a very kind family across the country, our doctors have been able to contact the expert treating their son with the IL-10 receptor deficiency. Hopefully, this contact can offer our experts other avenues where they can explore their hypothesis since there have not been answers regarding studies where they have requested Cole to be a subject.
Clearly, we have had quite a bit to absorb this week, not to mention the ripple effect of choices and various emotions that are part of the package with this type of news. In the end, not much has changed, we've been doing what they've recommended now for a year, so this isn't really a new normal anymore, just our normal. Which, as long as the kids are thriving, I'm perfectly fine with.
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