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!
Saturday, January 29, 2011
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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