Skip to main content

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.

So...now we try to move on from here.

Photobucket

Comments

Popular posts from this blog

Some Results

I was surprised to get a brief update from our doctor this morning.

They did not catch any seizure activity last week.  She said that while that may be good news, it didn't rule out deep structure seizures.   I asked if the test gave any insight to the cause of the slowing of activity in her brain and these were her words.

" No, this does not give an answer ... But it is just one test, done one time ..."

We are still waiting on the MRI results.  I'm not losing hope.  I know, I play this game ALL THE TIME...I wish for problems that no one in their right mind would wish for.  I only do that because it's usually the option with a fix.  Of all the things they are considering to be an issue for Shelbie, seizures are the simplest explanation and medication would manage it.

I'm certain we aren't going to find a solution to her problems any time soon.  While I sat in the waiting room during her 2 hour MRI last Thursday, there was a couple in the room as well.  A…

Random Saturday

Whenever I feel like we are careening out of control, I declutter and clean.  By midnight on Friday, I had 1/3 of my living room filled with stuff I didn't want.  Today, I made a couple of trips to the thrift store and the dump.

Ahhh, I feel like I lost 20 pounds.

When Sam came home after his first week at school a while back, he said, "Wow, my room looks the same."

"What did you think your room would look like?"  I asked.

"Clean."

Turkey!  He came home this morning with his laundry and was a bit despaired.  He said, "Mom, you gotta help me with the smell in my apartment!  I can't stand it anymore! Do we have any Ozium?"

He went on to explain that there is no garbage disposal in the kitchen sink but food gets crammed down there anyways.  He said he keeps putting the little metal drains in that are meant to catch bits of food but his roommates take them out.  He's about fed up.  And while he was on his rant about boys and their leve…

A Witness

I was expecting just another run of the mill night at the gym last night.  The kind where the 'meat heads' stay at their end of the gym grunting and groaning to sound strong and I would claim a little corner in the room where the Yogi's hang out and Plank, and there I would Spin on a bike for a few miles, do some rowing, a little TRX and finish up with some free weights.

Last night though, I actually decided to do an easier workout and took an inclined walk on the treadmill.  There were no meat heads in far end of the gym.  No one really at the gym at all.  For the longest time, I kept pace with an old guy on a bike behind me.

But then, a man and his son came in.  I knew them.  I knew them well but they don't know just how well I know them.  They have a son who passed away from Cystic Fibrosis a little while ago, he would have been Spencer's age now.  They have a younger son who also has CF.  I knew his wife and mother in law back when my kids were being diagnosed.…