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.

And Another Thing...

A couple of weeks ago, we went to the allerigst for some congestion issues that weren't clearing up. The dr. was great! Erik was great! But...

We have learned Erik has a serious allergy to milk. While this may not be a big deal for some, it's fairly overwhelming for us. It's one more thing we have to consider with Erik and what the geneticist can use to figure out what is going on. Because he has an allergy to milk, the dr. was obligated to give an epi-pen.

With this there are things we didn't even consider. Like traveling. Luckily, I called the doc to find out what we would need to travel with an epi-pen. He said, "oh just take the box they came in. It has the prescription label from the pharmacy" Little did he know, I threw it away the moment we got home. So , off to the pharmacy to reprint the labels and attach them directly to the pen's.

So our thinking about Erik and transitioning him off formula has drastically changed. Thankfully, the dr. has us on a plan. He changed formulas, to a completely non-dairy firmula and starting next friday he should be off of formula completely. Because this week we are changing him over to soy. So far so good. Erik is a trooper and that helps considerably!

Well that's it for the latest... until next time!

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.

The latest...

Last week we received a phone call to go ahead an schedule Erik's appointment. Now that Erik was 1 the pediatrician, the neurologist, and the eye specialist all wanted an MRI. So we did...

Last Monday, we were able to get Erik in for his MRI... which also included sedation; however this experience with anethesia was totally different. He wasn't happy, but he didn't get a massive headache like he did last time and we were able to give him tylenol as soon as we knew he needed it. We got him home, he slept for 3 hours and he was back to his normal self. SO MUCH BETTER.

Also at the request of all 3 of our team of docs we have scheduled and appointment with a geneticist. They all feel there is someting more than just Erik's eyesight and everything else he has dealt with since he was born. So we did...

We have an appointment sheduled for the end of February, it will be good to have as much information for the genetecist as possible. We should have the results from the MRI and the labs, that the neuro ordered to be done at the same time, in 3-5 days, so any day now.

Believe it or not...

I believe we have made it to current day, so from here on out these blogs will be within the last few months.

Let's see... at the end of December Erik went for a test called ERG (electroretinogram), as a result of the eye specialist seeing some concerns at his last appointment. Unfortunately, Erik had to be sedated to do the test, which means they treat the procedure like a surgery. That meant getting to our appointment 2 hrs before hand. Worse - the appointment was a 8:30 am, and it was in Denver. Luckily, because we have such wonderful friends, we were able to stay at their house the night before... Wow, they are a blessing! Erik came out of the procedure and was not happy. The more we looked at him the more we realized he had a massive headache. Poor guy, it took an hour to get him some tylenol. He just layed there in the hospital crib and wouldn't move his head. That was the worst, seeing him like that. And his throat hurt from having the tube in his throat. Every time he swallowed his face would wince. To top everything off, he wasn't in the mood to be held. All I could do was lay next to him. Eventually he fell asleep. Over the next few days he recovered and was back to his old self...

EVEN BiGGER NEWS... ERIK TURNED 1 - 12/16/10