3 in 2

We have been very busy lately, with lots of news and possibly different directions. We have been to 3 doctors in 2 weeks, whew! So let's start with the first...

The neurologist - we had a good visit. He was pleased with Erik's progression and development. He still needs work, but he sees improvement. He weighed in at 19.8 lbs! That's almost 2 lbs in 2 weeks. He went over the images of Erik's MRI, that was done back in January. As suspected, the amount of white matter in his brain is not as developed as it should be. But we can help development by nutrition and therapy. To refresh your memory... white matter is the tissue that helps with muscle function (i.e. large muscles, eye function, digestive function, etc). One thing the doc is going to have us do is a DNA test, yes that's right, he believes there is still a chance it's not a mitochondrial disorder! If it's a DNA issue, than it's more likely a "flook", for what Erik has going on. If it's mitochondrial than it's much more serious and we are dealing with more issues.

The naturopath - because of Erik's allergies and the nature of the things we are dealing with, we decided to see a naturopath. She was great. She read the detailed report from the genetecist. She has a different perspective of what others see. For example: the shape of his head. The geneticist believes the shape of his head is part of whatever disorder he has, but the naturopath believes it's because he was breech. His head was smashed against my ribs during labor, which flattened the top and made it more oblong. She did some cranial work and will continue to be working to move his cranial bones back to a more optimal position, rounding out his head. AMAZING! She believes he may be allergic to corn; which happens to be the #1 ingredient in the special formula recommended for kids allergic to milk. There is still some congestion with the new formula, but nothing like it was. We did a test that will look for reactions to 96 different foods. So for now, we have kept his food the same, until we get results in a couple of weeks. We are very excited to continue working with her and see how we can work together to figure out what we need to do.

The cardiologist - So to look into why Erik's hands and feet were COLD and RED, the pediatrician said we should see a cardiologist, because those symptoms can be indications of poor circulation and heart issues. WELL, since we changed formulas... he hands and feet were no longer cold or red. We could not figure out how this worked, but it did. When we told the naturopath she suggested it was because the cold hands and feet were actually an allergic reaction, from possibly the corn. Our new formula may not have nearly as much, hence him not reacting like he did before. So, when we saw the cardiologist he did an EKG and did a thorough check of his heart/pulse - in his chest, hands, and feet. He took a brief history and said, "I don't need to see Erik again. He is fine. He has a great heart". Yeah!!! Finally, good news from a doc who doesn't need us to come back :) - side note... the cardiologist had an english accent and looked like Pierce Brosnan (sp?) and he wore a bright colorful BOW TIE!

Well, I think we made it through our update. We've been busy, but things are settling down again and we like that.

Getting over the bump in the road...

We are feeling better since our last blog. This is where we are today... Erik IS GAINING WEIGHT!! Before we put him back on formula I measured around his calf. My thumb and middle finger could easily touch (I have tiny hands), now there is about 1/2 - 1 inch between them! Woohoo! We had the x-rays taken, but have not heard anything about what they saw, if anything. So, not sure if not hearing from the doc means good news, but we will see. Another giant improvement... Erik's hands and feet aren't cold or purple. It seems as though, since he started gaining weight, it's changed. We are going to keep the appointment with the cardiologist, just to make sure. We are working with the OT about his feeding. The OT seems confident about getting Erik on the right track.

It's a big difference from Erik's last checkup til now. It's been a lot of work to get all of this figured out and to keep everything straight, but it's also been encouraging to see who God brings from the woodwork. He always shows up. It's so good to see Erik improving and feeling better. Below is our latest venture out with NiNi and Grandpa, enjoy :) (I know we do)

Spoke too soon...

Today was a hard day... a few tears of frustration, to say the least. So, Sean took Erik to the pediatrician for his regular checkup; here's what we found... 1) Erik has an ear infection! who knew. NO signs at all! Poor kid, who knows for how long. 2)Next.. Erik has cold hands most of the time, even to the point of turning purple. We are to talk to the neuro about what this could mean. So a call was made to the neuro to see if this is something he needs to be seen for sooner than April 7th. 3) Next... Erik's pediatrician is concerned about how his spine is developing. His spine is bulging in his mid to low back. We can especially see this when he sits. So the ped dr. will be ordering x-rays and we are to ask his PT if she sees anything that might be of concern and get her opinion. 4) Next... the dr is worried about Erik's weight, he lost even more since the geneticist appt (which is weird, because I could have sworn he was gaining weight). She suggested putting him back on the special formula he was on before - Sean was great and told her the allergist said there is still milk in the formula, so the dr will be calling the allergist to decide what will be best. (way to go Sean - good lookin out)! I think that's it... Talk about stressful, ugh! We now have added more things to our list, just as we thought things were settling down to normal. Lord, hear our prayers...

Waiting... waiting... waiting...

We are now in waiting mode. We received a 4 page report from the general geneticist that was basically a recap of everything we discussed. But there is some good news. Out of the 14 blood tests sent to a lab, results for 5 of them came back as negative or within normal ranges, just as the dr had suspected. From what we could tell, the proxisomal test the "scary" one - Zellweger's, came back negative. So we are waiting to get more results and hear from the metabolic geneticist.

In the meantime... Erik went to his first occupational therapy session. He did great, but she made him work. He worked on grasping and transferring from one hand to the other. He also worked on moving from sitting to his knees. He got frustrated but he did good overall. And now all week he's been making the same movements from his bottom to his knees. Not fully onto his knees but making the movements to the position. Very good stuff!

Erik continues to "awaken". We are so impressed with his interaction and communication. We have been a little frustrated with his weight gaining, but we are keeping the hope that he is making progress. We have learned through the allergist that when our diets change and our bodies are getting rid of the "bad" stuff, they will lose water and fat. So we were reassured it was "okay", but it's hard to feel ok, when we've had to think about his weight since he was born. That was last week... this week he seems chunkier and feels like he's heavier. Does this happen to everyone or is it just us?

Anyway, not much to report, but Erik is doing great and we are excited to see what else he can do!

It's the simple things...

It was an exciting night at the Livermore home tonight... we were sitting at the table finishing up dinner and Erik in his highchair, providing us with great entertainment. Sean had a fabulous idea to pull out the fruit pieces (small pieces of freeze dried fruit). We put them on his tray and he started playing with them, which isn't too uncommon, but that's about all he does, play and quickly loses interest. When I say play, it means pushing them around with his fingers, maybe getting one stuck on his palm, but not knowing its there...hence the quickly losing interest part.

Well tonight, he had a piece of banana in his hand and he attempted to bring it to his mouth!!! This is a first. Not only did he get it in his hand, he felt the tray to find it, all by himself. That's right no help from mama. We were so excited, but we couldn't cheer too loud (so we did a whisper cheer). We didn't want to scare him since he was doing SO good. YEAH Erik!!! GOD is GOOD...

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...