Don't get me wrong, I love being a mom, but what I love more is being Erik's mom. He is progressing in his development, easily moving into his 2 year old "attitude", and growing more comfortable and confident with his curiosity.
While life at dr's offices is calming down, there is still the lingering unanswered question of, "what does Erik have, anyway?" We are beginning to get the, "Well, I'm not sure what this is.", answers. In the DNA test that cleared Sean and I of being carriers of whatever Erik has, it states, there are no other cases reported that include both the deletion of the section of DNA and the developmental delays. Normally, when this specific section of DNA is deleted there is nothing else "going on". The lab who conducted the test would like to do a case study on Erik; however, we are very hesitant on proceeding since we don't have any answers as of today. We might consider this as Erik gets older or once we find out more of what we are dealing with. We aren't quite ready to offer him up as a test subject until we are confident that he is getting services and support to benefit his development and function.
We are scheduled to see an ocular geneticist, in September, to help determine more specifically what we are dealing with in regards to his eyes. We saw a retinal specialist in July. It was great to get connected to the dr. since we will have to see him every year; however, he was not able to confirm what the DNA test were saying (Stargardts). He said the only way to get a good look at Erik's retina was to put him under anesthesia. He did not feel it was appropriate to put him under only for the tests. The dr felt it would be more appropriate to perform the test if there was another reason he was going under anesthesia. We were very thankful for his perpective, because Erik has been under anesthesia enough.
So we shall see how things develop. Our geneticist continues to gather test results and make recommendations in order to move towards a diagnosis. For your viewing pleasure and incase you weren't able to see it on Facebook, I have included the video of Erik crawling... Enjoy!
Saturday, August 13, 2011
Sunday, June 26, 2011
I apoligize fore being such a horrible blogger... I am realizing that things are happening, but don't seem significant in the moment and then time goes by and I say to myself, "Man, I should have blogged right when it happened." So once again, I will try and catch you up...
Well, we no longer have a ped dr. A little frustrating, but God knows what he is doing. In the end, she was the PERFECT dr. for us for the time we were with her. A week after we learned she was no longer with the practice, she called us from her home to check on us and once again give her wonderful guidance to move us just a little bit further with giving Erik the best. She introduced us to a program called "Child Find". Child Find helps give families the resources needed to help their children with disabilities (i.e. physical therapy, occupational therapy, speech therapy, etc). She also gave us a list of questions to help us find a good ped dr. Two interesting things she suggested were, we should apply for medicaid to help pay for some of Erik's stuff and to start applying for disability. Talk about a reality check. It's hard to swallow or even admit that Erik would actually qualify. Neverthless, she's right, once we get to Denver, we will begin the long and lovely process of applying to both.
On the medical side, we have received our first positive test results. The biggest reason we aren't jumping up and down having a party and thanking God is because we aren't convinced it's the end. We believe, as well as the neurologist, that there is more. Nevertheless... drum roll please...... the diagnosis they are working towards is called "Stargardt". So, our journey continues as we move closer. It is a HUGE step, but not the final landing. Sean and I will be getting tested to see if either one of us is a carrier.
Most recently, we have had our evaluation/consultation with the Child Find team. They found that Erik is 49% delayed. Which is about what we thought. So he is about the age of a 10 month old. However, we had a breakthrough with Erik. He started clapping, giving high five's, and he has progressed to graham crackers!! But the biggest breakthrough of them all..... Erik is CRAWLING!!! Of course it's done in Erik's special way, not like other typical babies, but he is on his hands and knees and moving across the floor. It is pretty noticable that something switched with Erik. We are blessed to see him progressing and amazed at his character.
Well, we no longer have a ped dr. A little frustrating, but God knows what he is doing. In the end, she was the PERFECT dr. for us for the time we were with her. A week after we learned she was no longer with the practice, she called us from her home to check on us and once again give her wonderful guidance to move us just a little bit further with giving Erik the best. She introduced us to a program called "Child Find". Child Find helps give families the resources needed to help their children with disabilities (i.e. physical therapy, occupational therapy, speech therapy, etc). She also gave us a list of questions to help us find a good ped dr. Two interesting things she suggested were, we should apply for medicaid to help pay for some of Erik's stuff and to start applying for disability. Talk about a reality check. It's hard to swallow or even admit that Erik would actually qualify. Neverthless, she's right, once we get to Denver, we will begin the long and lovely process of applying to both.
On the medical side, we have received our first positive test results. The biggest reason we aren't jumping up and down having a party and thanking God is because we aren't convinced it's the end. We believe, as well as the neurologist, that there is more. Nevertheless... drum roll please...... the diagnosis they are working towards is called "Stargardt". So, our journey continues as we move closer. It is a HUGE step, but not the final landing. Sean and I will be getting tested to see if either one of us is a carrier.
Most recently, we have had our evaluation/consultation with the Child Find team. They found that Erik is 49% delayed. Which is about what we thought. So he is about the age of a 10 month old. However, we had a breakthrough with Erik. He started clapping, giving high five's, and he has progressed to graham crackers!! But the biggest breakthrough of them all..... Erik is CRAWLING!!! Of course it's done in Erik's special way, not like other typical babies, but he is on his hands and knees and moving across the floor. It is pretty noticable that something switched with Erik. We are blessed to see him progressing and amazed at his character.
Sunday, April 17, 2011
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.
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.
Monday, April 4, 2011
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)
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)
Wednesday, March 16, 2011
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...
Tuesday, March 15, 2011
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!
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!
Wednesday, March 2, 2011
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...
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...
Friday, February 25, 2011
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...
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...
Tuesday, February 15, 2011
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...
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...
Saturday, February 12, 2011
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.
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.
Saturday, January 29, 2011
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!
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!
Friday, January 28, 2011
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.
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.
Thursday, January 13, 2011
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.
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...
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
In the meantime...
While we were doing the patching and getting his feeding under control. Our wonderful pediatrician who is always looking out for us suggested we take Erik to a neurologist to do a head to toe check. You see, Erik was almost 6 months old and he wasn't holding his head up. So we did.
The neurologist noticed right away that Erik was not doing what he was suppose to do. He recommended getting Erik evaluated by a physical therapist and occupational therapist. So we did. We had already been taking Erik to speech therapy for his eating, why not?
We continued too take Erik for to speech therapy, while we waited for the authorization of the PT and OT evals. Well, once we did the physical therapy eval, we decided to hold off on the OT until he was older, since they cross over so much with treatment, we didn't want to use up the visits. We also, decided to taper down the speech therapy, since they used up the visits too. The more pressing issue was his PT.
Thank goodness we got a good therapist. He loves her and makes googoo eyes at her. She may be his first crush...
So, every Friday Erik and I are off to PT. Sean takes him on Tuesdays of our schedules have to change. I'm thankful Sean isn't afraid to do these things. I nice to know he's capable of doing anything I would do. I'm lucky!
The neurologist noticed right away that Erik was not doing what he was suppose to do. He recommended getting Erik evaluated by a physical therapist and occupational therapist. So we did. We had already been taking Erik to speech therapy for his eating, why not?
We continued too take Erik for to speech therapy, while we waited for the authorization of the PT and OT evals. Well, once we did the physical therapy eval, we decided to hold off on the OT until he was older, since they cross over so much with treatment, we didn't want to use up the visits. We also, decided to taper down the speech therapy, since they used up the visits too. The more pressing issue was his PT.
Thank goodness we got a good therapist. He loves her and makes googoo eyes at her. She may be his first crush...
So, every Friday Erik and I are off to PT. Sean takes him on Tuesdays of our schedules have to change. I'm thankful Sean isn't afraid to do these things. I nice to know he's capable of doing anything I would do. I'm lucky!
On to the next thing...
Luckily we had a lull for the next few months. Erik's feeding was getting under control, he has healed from his surgery, and we were on the road to seeing our little man flourish... or so we thought.
At Erik's 4 month appt. Our pediatrician made some comments about his eyes and the fact that his left eye wandered. So off to another specialist. She was great. Very direct and to the point. Our homework... patch is left eye 3 days a week for 30-45mins. So we did. 3 mornings a week. At our 3 month check up for his eyes she notice slight improvement, so keep patching. At our six month check up, she noticed a little more improvement; however she noticed the right eye starting to get lazy too. Our homework... alternate patching each eye 6 days a week for 1 hour. And we did, every morning we patched one eye for one hour except Sunday's. At his 9 month check up for his eyes she did more than just a quick check. She dialated his eyes and that's when she noticed a bigger issue... in the back of his eyes she noticed his macula's were flat, this is not good.
to be continued...
At Erik's 4 month appt. Our pediatrician made some comments about his eyes and the fact that his left eye wandered. So off to another specialist. She was great. Very direct and to the point. Our homework... patch is left eye 3 days a week for 30-45mins. So we did. 3 mornings a week. At our 3 month check up for his eyes she notice slight improvement, so keep patching. At our six month check up, she noticed a little more improvement; however she noticed the right eye starting to get lazy too. Our homework... alternate patching each eye 6 days a week for 1 hour. And we did, every morning we patched one eye for one hour except Sunday's. At his 9 month check up for his eyes she did more than just a quick check. She dialated his eyes and that's when she noticed a bigger issue... in the back of his eyes she noticed his macula's were flat, this is not good.
to be continued...
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