Thursday, May 7, 2015

The Results Are In

Today marks the end of this chapter in our crazy, upside down world of Dykeratosis Congenita.

We met with our Pulmonologist this afternoon to get the final results on the kids' CT scans with contrast that was done last week.  

Before I dive into results...can I say I really like our new Pulmonologist!  Low and behold...he has been doing some studying on DC.  He was right up to speed and today was a great visit.  I really appreciate his bedside manner.  He is so good with the kids and they really like him too.  I know, at first, I wasn't sure we were going to be a good match but thankfully, it's all good.  I can see now he was just trying to gather data and figure out where to go since he was jumping into this mess after a couple of doctors had already started stuff.  So, he's amazing and awesome!

So, both kids have a scattering of pulmonary AVM's.  It's not good news but it's the news I was kind of expecting...or actually, it's news that doesn't surprise me.   There was a part of me expecting the scans to be clear.  Now we know.

Even though there isn't anything we can do about it, there is some peace in knowing.  

Pulmonary AVM's aren't typically associated with DC but since DC is so rare and the database so immature, it isn't mentioned as a complication.  However, it doesn't take much digging to find studies on DC kids who have multiple, PAVM's.  The research is new, very new so it will take some time I'm sure before it becomes an official symptom.  Not only is it in the research but in my support group, there are several DC patients with AVM's.

Dr. C was really pleased with the way Sam has responded to the steroid inhaler.  He is doing much better with his breathing so we are going to continue to treat Sam in that way.  The doctor mentioned how amazing it is that Sam can do the things he does under the circumstances.  I agree, he is incredibly blessed!   It hardly makes sense in fact!

For Shelbie, he really wants her to start Pulmonary Rehab.  Three times a week for up to 36 visits, she will go to the hospital in the City for monitored exercise so they can see how her lungs and heart do with the added 'stress'.  I think it will also allow her to see where her limits are and what she can actually do before getting into a 'danger' zone or a place where it will be too taxing on her lungs.  That's how I understand it anyways.

Getting bad news isn't so bad when you have confidence in your doctor.  I was really afraid we would have to start all over in Seattle where there would be a doctor who could handle all these rare problems.  I have complete confidence in Dr. C.  I know if I got worried or panicked about something, he would be able to listen and help me sort things out.  That makes me feel so much better about things.  I'm so glad he was willing to take the time to get to know our disease.

The only other thing he cautioned us about was the fact that the kids have had way too much radiation.  More than any normal person should have in their lifetime!  So, he said, "NO more radiation at all for at least a year."  The reason for this is because of the kids' cancer risk with DC.  It's really risky.   I've known this but we really had no choice but to get this testing done. we try to move on from here.


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