Everett Update

The original purpose of this blog was to keep family and friends updated on Everett's health and overal progress, but I have neglected to do that due to the lack of truely knowing what has been going on these past few months. However; I am starting to feel more and more confident that we are getting closer to understanding our special little "pumpkin" and so I can now give a more detailed update.

In the Christmas post I had an adorable picture of Everett with a HUGE smile. Well, that is the last time Greg and I can remember his smiling or chuckling like that. Somewhere around that time we began to notice some unexplainable changes with Everett. He was regressing both in his ability to roll over and lift his head and his ability to smile, grasp objects and interact. Based on these changes we found ourselves back in the geneticist office and over the past three months Everett has undergone numerous tests and blood work. So far there is still no explanation as everything has come back normal - which has been both a blessing and point of frustration. The frustration stems from the fact that Greg and I both know something is going on with our little one and the doctors are just not able to figure it out.

As of last week we received some more test results that seem to be putting the puzzle pieces together. Based on the results from a recent electroretinography (ERG) we learned that Everett has Retinitis Pigmentosa (RP). RP is a group of genetic eye diseases. This is not necessarily another eye condition, rather it appears to be related to his other diagnosis of Optic Nerve Atrophy (ONA). What was puzzling to us and doctors prioring to knowing about the retinitis pigmentosa was "Why does this infant have Optic Nerve Atrophy when there is no history of trauma or tumors?" Now there appears to be a common link to the result of his overall vision loss - a genetic disease. Of course this brings lots of other questions about family genetics, but it does at least provide a cause for the loss of his sight.

While we are not out of the woods yet we are starting to get some long awaited answers. The last piece of the puzzle to figure out is why Everett has regressed. The question now is whether or not Everett is having seizures. Based on the research we've done on RP and ONA, it does appear that seizures are likely. We have now been referred to see a pediatric neurologist who can hopefully help with this piece of the puzzle. That appointment will be scheduled later today.

Our next step is travel to Los Angelos for an appointment with a pediatric retina specialist. We are really hoping to have some clarity after this visit about Everett's overall eye development and to verify if he has been correctly diagnosed with RP and ONA.

If you've been able to read though this very long explanation you'll notice that there has been no mention of Down Syndrome (DS). While he is still a very adorable little boy with DS, currently it appears to be a very low concern with his overall health.

Now that you're all updated (or as updated as we are) I will continue to keep you posted as we visit the pediatric retina specialist and nuerologist.

As always your prayers are appreciated. God continues to be our strenght and has been able to comfort us through this journey. I constantly remind myself that Everett was "fearfully and wonderfully made" and in the eyes of the Lord he is absolutely PERFECT! So daily I thank God for this blessed child and ask for strength in the days ahead.