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.
Friday, January 28, 2011
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...
Tuesday, December 28, 2010
The First BIG hurdle... believe it or not
Sorry it's been a while, but now we are through a wonderful Christmas season. We had been working on breastfeeding with Erik. Now I had been to the classes, read the books, researched blogs and tips, and talked to mom after mom about what to expect. After going to a class with Erik for a month, the nurse suggested I talk to my pediatrician because there may be something else going on, as to why things weren't coming together. So at our next appointment we talked to him and he suggested seeing a a specialist to see if his mouth was perhaps shaped weird. We were on the road to see a specialist, when we had a bit of a disruption...
It was one of those midnight diaper changes, and I was cleaning Erik up, when I felt a hard lump just below his tummy. I had Sean come take a look and the first thing he said was I think he has a hernia! We called our ped first thing the next morning. We got Erik in right away and sure enough, he had a hernia. Part of Erik's issue we thought, was he would grunt and push so hard when he would have bowel movements he must have pushed it down. We had an appointment with the specialist within a few days and the surgeon confirmed it was a hernia, but he couldn't get us in for another 3 weeks for surgery. He gave us the warning signs of when to take him to the ER and what to do in the mean time. Well, in the mean time we were still working on breastfeeding/formula feeding.
Nothing seemed to work or help with his symptoms when he ate. He would choke and gag, get congested, his skin felt like sandpaper, his bottom had open sores, and he wasn't gaining weight fast enough. At Erik's 6 week check up our original ped was out on leave for a medical issue, so they reassigned us to a different Doc. I wasn't able to go so Sean took him. Sean called me after the appointment and said we had to switch doctors. She had answers and she didn't settle for just letting him get through it. She gave us a special formula. Within a week his symptoms were disipating. What an answer to prayer! I dealt with giving up my desire to breastfeed and it was the first major lesson in reminding myself, "It's not about me" (this topic could be an entire blog of its own).
We did take Erik to the ER for his hernia while we waited for his surgery date, which in turn allowed us to move the surgery date up (because the doc realized it needed to happen sooner than later). We were so glad to get this done. However, it wasn't so simple. When the surgeon came in right before going in to the OR, Sean asked if he would just peak at the right side to make sure it wasn't herniated too. Within 5 minutes, he comes back and says, yep it's herniated too. OF COURSE!
I know the title says "The first big hurdle" indicating only one, but they happened simultaneously. Maybe they weren't the hurdle...
It was one of those midnight diaper changes, and I was cleaning Erik up, when I felt a hard lump just below his tummy. I had Sean come take a look and the first thing he said was I think he has a hernia! We called our ped first thing the next morning. We got Erik in right away and sure enough, he had a hernia. Part of Erik's issue we thought, was he would grunt and push so hard when he would have bowel movements he must have pushed it down. We had an appointment with the specialist within a few days and the surgeon confirmed it was a hernia, but he couldn't get us in for another 3 weeks for surgery. He gave us the warning signs of when to take him to the ER and what to do in the mean time. Well, in the mean time we were still working on breastfeeding/formula feeding.
Nothing seemed to work or help with his symptoms when he ate. He would choke and gag, get congested, his skin felt like sandpaper, his bottom had open sores, and he wasn't gaining weight fast enough. At Erik's 6 week check up our original ped was out on leave for a medical issue, so they reassigned us to a different Doc. I wasn't able to go so Sean took him. Sean called me after the appointment and said we had to switch doctors. She had answers and she didn't settle for just letting him get through it. She gave us a special formula. Within a week his symptoms were disipating. What an answer to prayer! I dealt with giving up my desire to breastfeed and it was the first major lesson in reminding myself, "It's not about me" (this topic could be an entire blog of its own).
We did take Erik to the ER for his hernia while we waited for his surgery date, which in turn allowed us to move the surgery date up (because the doc realized it needed to happen sooner than later). We were so glad to get this done. However, it wasn't so simple. When the surgeon came in right before going in to the OR, Sean asked if he would just peak at the right side to make sure it wasn't herniated too. Within 5 minutes, he comes back and says, yep it's herniated too. OF COURSE!
I know the title says "The first big hurdle" indicating only one, but they happened simultaneously. Maybe they weren't the hurdle...
Friday, October 29, 2010
A Rough Start
This is where the real journey begins...
Having only seen Erik's face after the c-section, I had no idea what to think when they brought him to our hospital room. He was red, black and blue from head to toe. This couldn't be normal, I thought. The pediatrician on duty, who did the first evaluation on Erik had a grocery list of issues. He was bruised from the birth, he was jaundice, he has a sacral dimple, he was small, he has 4 birthmarks on his head, he has a hooded penis (don't ask - it ended up not being the case). But when I saw him for the first time, I didn't see one thing on her list. Call it looking through rose colored glasses, seeing him as God sees him, or seeing him for who he really was, I don't know, but he was PERFECT!
From day one Erik had personality. When it came to feeding, he would not open his mouth. He would pinch his lips together and clench his jaw. He was not going to eat for anything or anyone. All he really wanted, was to be left alone. He wanted to sleep. I can remember the nurses using a medicine cup to feed him only 5ml. Just trying to get food into him.
As Erik and I started the learning process of breastfeeding it was not easy, to say the least. We went to the lactation class, I spoke with nurses, I tried everything. Because his weight was an issue, it was big deal for him to gain weight, so to not get this breastfeeding thing was more than a frustration.
We will return to this subject soon, but to keep things in chronological order, I'm going to change directions...
When Erik was just over a month old, I was changing his diaper in the middle of the night and notice a hard lump in his groin area. I had Sean take a look at it and his first thought was a hernia, but neither of us were sure. First thing, the next morning, we were at the Dr's office. Sure enough, Erik had a hernia on the right side. We were sent to a specialist and was scheduled for surgery 3 weeks later. Well, Erik had some difficulty with the hernia and the surgery just couldn't wait the entire 3 weeks. So, the day Erik was 2 months old, he had surgery for his hernia.
When the surgeon came in to have one last chat before surgery, Sean asked if he would just peek at the left side to make sure it wasn't herniated as well. Within 5 mins, the surgeon was back in our room. Sure enough, Erik had double hernias... good grief poor little boy! But he made it through and kept on keepin on...
Now back to brestfeeding...
When Erik was 2 months old, we went to his 2 month check up. Our original peridatrician was out on medical leave. So, we saw a pediatrician who was covering his patient load. Her name is Dr. Bong. Sean took Erik, by himself, for this appointment. As soon as they were done Sean called to tell me he thinks we should switch pediatrictians. For the first time, she gave us a possible reason for so many of his odd issues he was having. He would gag and choke when he ate, his bottom had open blisters, his skin felt like sand paper and he wasn't able to latch with breadfeeding. She took one look at him and said, "I think he might have a milk protein issue". Of course I did my own research to learn as much as I could and sure enough, most of the symptoms listed were what Erik was dealing with. Now, we use a prescription formula. It's an amino acid based formula, so he can digest the protein found in milk.
Dr. Bong was also noticing his left eye was not focusing straight, so she sent us to an eye specialist when Erik was 4 months old. From the first appointment at the eye dr. we have been patching his eyes on a weekly schedule. More to share on that soon...
Dr. Bong also sent us to a neurologist when Erik was 5 months old. She was noticing that Erik did not have the proper head control for his age. Since we've seen the neurologist we've been taking him once a week to physical therapy.
This isn't even everything...
The next hurdle we had to jump was Erik's special circumcision. To our luck, our pediatricians husband happen to be a urologist. Basically, Erik needed to have a customized circumcision. When he was born they told us we would have to go to Denver, so it was a pleasant surprise that we could have it done here in the Springs. Once again, Erik did great. No issues with the general anethesia.
He is our little trooper!
Having only seen Erik's face after the c-section, I had no idea what to think when they brought him to our hospital room. He was red, black and blue from head to toe. This couldn't be normal, I thought. The pediatrician on duty, who did the first evaluation on Erik had a grocery list of issues. He was bruised from the birth, he was jaundice, he has a sacral dimple, he was small, he has 4 birthmarks on his head, he has a hooded penis (don't ask - it ended up not being the case). But when I saw him for the first time, I didn't see one thing on her list. Call it looking through rose colored glasses, seeing him as God sees him, or seeing him for who he really was, I don't know, but he was PERFECT!
From day one Erik had personality. When it came to feeding, he would not open his mouth. He would pinch his lips together and clench his jaw. He was not going to eat for anything or anyone. All he really wanted, was to be left alone. He wanted to sleep. I can remember the nurses using a medicine cup to feed him only 5ml. Just trying to get food into him.
As Erik and I started the learning process of breastfeeding it was not easy, to say the least. We went to the lactation class, I spoke with nurses, I tried everything. Because his weight was an issue, it was big deal for him to gain weight, so to not get this breastfeeding thing was more than a frustration.
We will return to this subject soon, but to keep things in chronological order, I'm going to change directions...
When Erik was just over a month old, I was changing his diaper in the middle of the night and notice a hard lump in his groin area. I had Sean take a look at it and his first thought was a hernia, but neither of us were sure. First thing, the next morning, we were at the Dr's office. Sure enough, Erik had a hernia on the right side. We were sent to a specialist and was scheduled for surgery 3 weeks later. Well, Erik had some difficulty with the hernia and the surgery just couldn't wait the entire 3 weeks. So, the day Erik was 2 months old, he had surgery for his hernia.
When the surgeon came in to have one last chat before surgery, Sean asked if he would just peek at the left side to make sure it wasn't herniated as well. Within 5 mins, the surgeon was back in our room. Sure enough, Erik had double hernias... good grief poor little boy! But he made it through and kept on keepin on...
Now back to brestfeeding...
When Erik was 2 months old, we went to his 2 month check up. Our original peridatrician was out on medical leave. So, we saw a pediatrician who was covering his patient load. Her name is Dr. Bong. Sean took Erik, by himself, for this appointment. As soon as they were done Sean called to tell me he thinks we should switch pediatrictians. For the first time, she gave us a possible reason for so many of his odd issues he was having. He would gag and choke when he ate, his bottom had open blisters, his skin felt like sand paper and he wasn't able to latch with breadfeeding. She took one look at him and said, "I think he might have a milk protein issue". Of course I did my own research to learn as much as I could and sure enough, most of the symptoms listed were what Erik was dealing with. Now, we use a prescription formula. It's an amino acid based formula, so he can digest the protein found in milk.
Dr. Bong was also noticing his left eye was not focusing straight, so she sent us to an eye specialist when Erik was 4 months old. From the first appointment at the eye dr. we have been patching his eyes on a weekly schedule. More to share on that soon...
Dr. Bong also sent us to a neurologist when Erik was 5 months old. She was noticing that Erik did not have the proper head control for his age. Since we've seen the neurologist we've been taking him once a week to physical therapy.
This isn't even everything...
The next hurdle we had to jump was Erik's special circumcision. To our luck, our pediatricians husband happen to be a urologist. Basically, Erik needed to have a customized circumcision. When he was born they told us we would have to go to Denver, so it was a pleasant surprise that we could have it done here in the Springs. Once again, Erik did great. No issues with the general anethesia.
He is our little trooper!
Subscribe to:
Posts (Atom)