Wednesday, August 17, 2011

Time to see the Cardiologist again!

  So a week ago we went to see the Cardiologist for Ramsi's yearly appointment and as usual, she is so good!
She knows the routine at any Doctor's office and she just quietly does what she is told to do! (very different than at home, of course!!)  The blood test we had done a month or so ago showed some changes in the sequence that deals with Cardiomyopathy and so we wanted to get in right away!

  Well, everything still looks great! So as of right now we really don't have to worry about it unless we see changes at home! We originally started to see the Cardiologist because Ramsi has a heart murmur and they have to keep an eye on it every year to make sure there are no changes! I really love the Cardiologist Dr Jou at Primary's that we see!  He is super positive and really explains things so us "dumb" people can understand!

  So here are some pictures of Ramsi being a good girl!! Enjoy!

Tuesday, August 2, 2011

Yearly Neurology Appointment

   Every year in July we take Ramsi to see her Neurologist at the MDA clinic at the U of U hospital. 
When we got there we ended up waiting 45 min in the room for her Doctor and she wasn't too happy about it, but as soon as we gave her Daddy's phone then she was just fine, of course!!  Once her Doctor came in he did his normal exam and asked all the routine questions. I talked to him about the Genetics Doctor we started seeing in May and he said he had already been in touch with her and spoke with her about the next few steps.
 We had a blood test done a month ago by the Genetics Doctor we see at Primary's hospital and she was doing a Genome test.  She explained that this test may or may not show something with the Mitochondria because sometimes it won't show up even if there is a problem. We still wanted to do it because she said there was a 20 percent chance that something would show up! 

 So, the Neurologist was able to pull up the results while we were there a couple days ago.  He said that nothing showed up for the specific test they were doing, but there was a change in the blood.  The change had to do with a sequence they look at for the Cardiomyopathy (can affect the heart, can cause deafness, and high blood pressure) Basically it went from an "A" to a "G".  He explained that it doesn't mean a diagnosis, but just gives them something to look into further.  

 At this point, we are just hopeful for any findings to know more about what myopathy she actually has. 
We are so thankful for such great Doctor's and such awesome friends and family!! 

  So Ramsi will see the Cardiologist for another EKG next week and then another series of blood test's that will take 2 months for the result because they are testing a few different things! 

  So proud of my little girl and so blessed to be her mom!  Thanks to everyone for all their love and support!!