No answers... but there is direction

Yesterday, was the BIG geneticist appointment. There was not the specific diagnosis like we were hoping for, but there was a direction that narrows what we are looking for.

What they have found...

It is more than his vision. It is more than a simple DNA syndrome (i.e. down's syndrome). It is most likely a mitochondrial disorder. Mitochondria are like power plants in each cell. These begin in the egg (so they only come from the mom). As they mutate/divide they determine which body parts they will be apart of. If there are abnormal or deficient mitochondria existant in the original egg there will be issues with whatever body parts they become apart of. For example, in Erik, he has issues with his muscles. So he has abnormal mitochondria in the cells that make up his muscles. Depending on the percentage of abnormal mitochondria within a body part determines the severity of the issues.

Overall the visit was really good. The dr. went through everything he was looking at and explained all of the little parts of Erik that weren't "normal". Of course Erik was a great little boy. While we were there the dr. recommended we see a metabolic geneticist. He even called a metabolic geneticist to see what testing could be done now to help us get to an answer quicker, which was a smart move on his part. He ordered a TON of blood work on Erik (10 tubes!). Because we were at the childrens hospital we were able to do the blood work yesterday, too. Erik wasn't so happy, but we got through it.

What's next...

We are anticipating the blood work we had done yesterday will rule out everything the "general geneticist" thinks it will. The metabolic geneticist tests will give a better idea of where to go next. So, we will wait to hear from the metabolic geneticist. Depending on what we find out will determine which team of genetic counselors we will work with. Each syndrome/disorder has its own team of specialists. We feel we are in good hands.

It was a quiet ride home, but our spirits are still high. It was somewhat encouraging to hear that the dr. was pleasantly surprised by Erik's exam. Apparently on paper Erik fits a proxisomal (not a mitochondrial) syndrome called "Zellweger's syndrome" (feeding issues, weight gaining problems, developmental delays, and vision issues); however when the dr looked at Erik and examined him, he didn't feel like it was a good match. Which is a good thing, because children with Zellweger's usually do not have a long lifespan; which in Erik's case he is thriving and growing. This was another reason the dr felt it wasn't this particular syndrome. He still tested for it, just to rule it out, but he feels confident that it truly is a mitochondrial disorder.

Erik continues to make great progress in PT. Today, he was able to stand by himself hanging on to a bench. This is a HUGE improvement. We are very proud to be his mommy and daddy!

So we wait and keep on keepin on...

Perhaps a bigger purpose?

For the last few weeks as we have seen Erik come alive, just from taking him off of dairy, we are becoming hopeful for Erik's progress and development. Erik's curiousity has grown and he is observing like never before. It's almost like a fog is lifting. His body is more relaxed. He is more comfortable.

Because of all of this progress, I can't help but wonder, what God is going to do with all of this. For some reason I have been brainstorming names for starting a non-prof. Maybe the details will emerge as we continue on this journey.

In the meantime, we will remain open and see what happens next...

Our next big deal appointment is Thursday Feb. 24th. Of course there will be an update here.

Until next time...

Say it ain't Soy... (well actually it is)

We are officially off of any and all formula. While this is good it is really scary... After just 2 weeks both Sean and I are looking for ways to supplement the vitamins and nutrition he is no longer getting. So we are looking for a liquid vitamin to help. Not to mention we have just entered the deep and complex world of label reading being overwhelmed with nutrition. Trying to be creative with his food while progressing him as he changes and develops.

We are leaning towards getting him on a liquid vitamin and a digestive enzyme, which apparently people lack the good enzyme when they don't get enough dairy. I may be completely musunderstanding how it works, but from what I can gather it helps for people who have digestion issues.

So let the research begin... A woman at Whole Foods today, rendomly started talking to me about Erik. To make a long story short, I believe she could have been an angel. I mean that in every sense of the word. A wealth of knowledge and came at the perfect time. She suggested we see a naturopath who works with moms and their children with allergies. This naturopath she suggested, just happens to be the same one two of my friends/coworkers have seen in the past. A small world or God at work...?

So, we will see what we come up with.