Might as well

This was an email I sent out January 11, 2011... After rereading it, I realized it was perfect for this blog

Sean and I each have our own reactions as we learn what is going on with Erik, which don't seem to occur at the same time, so we have learned to
support each other where the other is and let others "in" once we've had a
bit of time to digest everything, with that said, below are the latest
details...

This last week has been a little rough but overall we've made progression
towards a diagnosis. We received the results of Erik's ERG, which was
abnormal, and we met with our neurologist, which was actually not too
eventful.

We were not too surpised the ERG was what it was, but there were details
that confirmed what the eye specialist was saying. So, this is what we have now confirmed. Erik has Retinitis Pigmentosa (RP), specifically Rod/Cone Distrophy, basically he wasn't born with enough rods and cones (rods = night vision/cones = color vision). While this is positive to have a name, it is VERY general. Some people can have RP and never know it until they are into adulthood, some people go completely blind by the time they are in adolesence. So it is a waiting game. The eye specialist will learn more as Erik gets older and she can have a real conversation with Erik about what he can and can't see.

The neurologist was pleased with Erik's progress and doesn't see any
neurological issues, which was a relief. Really there wasn't anything
significant to report. That was great to hear.

However...

The eye specialist, the neurologist and the pediatrician all agree, there is something else going on with Erik, i.e. a syndrome, a metabolic, or
mitochondrial disorder. RP is either syndromatic or non-syndromatic. RP can remain stable if it's non-syndromatic, but depending on the syndrome or disorder will determine the rate of progression/deterioration. To find out the syndrome (which will also tell us the rate of progession) we will see a geneticist. We have an appointment at the end of February.

Currently...

We are scheduled for an MRI and a level 1 screening of syndromes, tomorrow
(1/10). We also have scheduled an appointment with an allergist, because of some congestion issues that aren't getting cleared up.

It's amazing how the doors have opened for our appointment with the
geneticist; much more than we could have anticipated. When we called to make our appointment we were initially told it would be late July/early August (2011) before we would get an appointment, but somehow we were able to get February, just enough time to get his MRI, run the tests, see the allergist and get results. With all of these tests, procedures, and exams, hopefully the geneticist will have enough puzzle pieces to know what's going on with Erik.

Erik continues to see the physical therapist every week and gets closer and closer to crawling. If it were his choice, he would go straight to walking, but because of his eyesight and the need to develop his fine motor skills, we don't want to skip the crawling. Right now he is doing a modified commando crawl, Erik style. He is very smart and determined to explore the world around him, he just does things his way.

Sean and I are doing well. We have our moments, but God has sustained us and continues to provide for us completely. Our prayers change as we learn more and get more details, but we always pray for God's will and His peace.

We have been overwhelmed by the love and support of our family and friends, so thank you. We anticipate the opportunities God gives us to bless others, just as we have been blessed.