Spencer has a heart

The Carotid Artery scan

The Echo-Cardiogram

We've been on an interesting path this week, a place I wasn't expecting to find ourselves.

In Seattle, Dr. S felt that some of Spencer's symptoms of passing out, clubbing fingers, swelling and flushed fingers etc, had gotten worse since last year when we saw her so she wanted him to have an echo cardiogram.

I thought about just getting orders from our family doc but after a little contemplation, decided that it might be better to see a cardiologist first since no one really knows why Spencer is experiencing the problems he is.

We saw a cardiologist on Thursday.  Of course he was a little nervous since he hadn't a clue about Shwachman Diamond Syndrome.  He was really good though and answered all 101 questions I had.  He had it narrowed down to a couple of ideas, one being vasculitis.  After throwing around a few ideas, he did an examination and then things changed.

He found a murmur in his carotid artery.  The carotid artery is in your neck and runs down on either side.  He said it sounded like his old patients with plaque build up in their arteries who are over weight and have high blood pressure.  He wanted scans and ultrasounds done as soon as we could.

I wasn't too nervous when he said that but I was surprised. I emailed Dr. S in Seattle and let her know what was going on and she was quick to send me articles about heart defects in Shwachman Diamond Syndrome.

We spent all afternoon at the hospital having the scans done and an echo-cardiogram.  They spent a lot of time, on those carotid arteries.  I like to think I could tell from watching if there was any narrowing or problems but the reality is, if I guessed, I would likely be wrong.

It will be next week before we hear back from the doctor.  We also have a rheumatology appointment in a couple of weeks because he thinks that there is a rheumatological problem going on that could possibly be affecting the heart.

So, lots to think about.  One interesting thing to note is that I asked him about the cranial nerve dying in Spencer's brain and if nerve damage caused from Mitochondrial disease could affect some of the arteries and cause the passing out, etc.  He said it was a possibility.

I will go to my grave saying that these kids don't have a 100 different diseases.  They have 100 things caused by one disease.  We just have to discover what that disease is...