http://www.youtube.com/watch?v=DTFARdYU7mo&feature=youtu.be
This is an amazing video that was put together by "Momma's Little Blessings" on Facebook. Eli's picture is at about 2:58 in the video. This definitely made my heart skip a beat and got my water-works going! As the parent of an extraordinary child with special needs, it is my job to make sure that his voice is heard! This video is one small step toward making sure that he is heard!!
Friday, March 30, 2012
Specialists, Specialists and more Specialists....
On top of the Cardiologist and Gastroenterologist, we've seen many other doctors to try and get some idea or diagnosis for what is going on with Eli. In January 2011, we started to notice that Eli was having little spells of what I called mini-seizures. He would be alert, talking, moving around.... but his lips were blue and ice cold. His hands and ears would also be freezing. Occasionally, his eyes would fix and his body would tremor. For this, we were sent to a local neurologist. (There is much more to this story, which I will explain in a later blog.) The neurologist ordered an EEG. During the EEG, they used a strobe light. During this time, Eli's eyes began to shake and roll back some. And then he fell asleep. The person doing the EEG didn't seem to notice.... he was a little too busy telling Adam about all of his plumbing, heating and A/C problems at his house.... So he didn't make a note of it on the report. We went to the neurologist the day before Eli had his feeding tube put in; March 22, 2011. The neurologist met with us for under 30 minutes, watched Eli for a bit, then "kindly" (and I say that VERY sarcastically) told us that there was nothing wrong with Eli, but everything that was wrong with him was my fault and I wasn't doing enough to help him. He also said that nothing came back on the EEG report and he basically didn't believe what I told him about Eli's eyes. Not a very positive interaction, to say the least....
During all of this, with the episodes of Eli's lips turning blue and cold, we had also paid another visit to the cardiologist. He put Eli on a heart monitor for 30 days. We were instructed to press a button every time that we noticed Eli's lips were cold and blue or his hands and ears were cold. Sometimes this only happened once or twice a day, if it happened at all.... other days, we were pressing the button 50+ times a day. After Eli was taken off the heart monitor, the cardiologist reported that it was not an issue with his heart... What a relief!!! On March 23, 2001, Eli had his feeding tube put in. Since then, he has had no more episodes of his lips turning blue or cold! =)
During the summer of 2011, our pediatrician referred us to an allergist/immunologist. He ran the normal tests and did the back-scratch test. No surprise, Eli is allergic to basically everything environmental. We were already doing Pulmicort and Albuterol breathing treatments, so we were instructed to add in allergy medicine.
We were also referred to a Geneticist at TTUHSC. We saw him in June 2011 and completed all the lab work. This doctor was AMAZING! He spent over an hour talking to me, answering all my questions and observing Eli. When we first met with him, it was obvious that he had reviewed Eli's medical records and knew what he was talking about. Eli's therapists and pediatrician had questioned Autism. However, we really fought against that diagnosis at first. When we met with the Geneticist, he was able to explain to me what he was seeing in Eli. He had a lot of sensory-seeking behaviors; like his body was craving something sensory-related. Eli ran aimlessly around the exam room, then jumped up in my lap, grabbed my hair and stuck it in his ear, then almost immediately seemed calmer that what he was just seconds prior. He also described the OCD-like tendencies/rituals that Eli had developed as far as eating was concerned. He also talked about Eli's tendency to group things by like color, shape, size, etc... like it HAD to be in order. After this discussion, it finally seemed to click with us and the Geneticist diagnosed Eli with Pervasive Developmental Disorder (PDD) with Autistic features.
With the lab work the Geneticist ordered, we were both expecting it to show that Eli had a genetic disorder called Di George Syndrome or 22q-deletion syndrome. All the symptoms fit and we were just sure this is what it would be. Unfortunately the lab work had to be sent to a lab in California and I was informed to be prepared to wait 6-8 weeks for results. So, in August 2011, 2 months later, I received a phone call. Fully expecting it to be a nurse or receptionist, I was very surprised that it was actually the Geneticist on the other end of the line. He said, "Well, I'm really surprised that it's not 22q. That's what I expected. But it's not. Eli has something called Klinefelter's Syndrome." He then told us he was referring us to an Endocrinologist.
In the meantime, we began seeing a new Neurologist in San Antonio. Luckily, my wonderful cousin Andrea is a nurse at Heartland Children's Home in San Antonio and she was able to refer us to the Neurologist they use. And he was WONDERFUL, especially compared to the neurologist we had seen locally! He reminded me of the Geneticist; well-informed, very knowledgeable about Eli and very patient with us and all our questions! He was able to confirm the Geneticist's diagnosis of PDD. He also told us to monitor Eli's progress. If we weren't seeing progress in 6 months to come back; he was slightly concerned that Eli may have a brain tumor.
We recently returned to San Antonio to have an MRI done on Eli's brain. We were very pleased to find out that Eli did not have a brain tumor!!
Back-track a few months to September 2011.... We were able to see the Endocrinologist at TTUHSC. She confirmed the diagnosis of Klinefelter's Syndrome and was able to explain his some. Basically, Eli will most likely not produce any testosterone and will likely be infertile. Boys with this are also known as very passive, non-aggressive kids... they don't produce testosterone, so aggression simply isn't there! As adults, most are know to have major mood swings (without the hormone testosterone, monitoring and controlling their moods is very difficult) and usually really struggle in math and science. She also explained that it was very rare that we found out about this diagnosis so early. Usually, it is not discovered until they become adolescents and don't really hit puberty, or until they are adult men and are not able to have children with their significant other. So, her instructions were to wait 8-10 years, then come back to see her and she would monitor him for another year or 2, then start him on testosterone supplements.
Eli has also aged out of being able to receive services through ECI. He has begun seeing a Speech Language Pathologist at South Plains Rehab. She is really great with Eli and has been working with him on his sensory issues. Once we are able to get these things worked out, she will begin to work with him on his feeding!
Slowly, but surely we are beginning to get answers and make progress. Adam and I are really looking forward to seeing Eli grow and develop and begin doing all the "normal" little boy things! We can't wait until the day he says, "I want chicken nuggets!" and actually eats them! =)
During all of this, with the episodes of Eli's lips turning blue and cold, we had also paid another visit to the cardiologist. He put Eli on a heart monitor for 30 days. We were instructed to press a button every time that we noticed Eli's lips were cold and blue or his hands and ears were cold. Sometimes this only happened once or twice a day, if it happened at all.... other days, we were pressing the button 50+ times a day. After Eli was taken off the heart monitor, the cardiologist reported that it was not an issue with his heart... What a relief!!! On March 23, 2001, Eli had his feeding tube put in. Since then, he has had no more episodes of his lips turning blue or cold! =)
During the summer of 2011, our pediatrician referred us to an allergist/immunologist. He ran the normal tests and did the back-scratch test. No surprise, Eli is allergic to basically everything environmental. We were already doing Pulmicort and Albuterol breathing treatments, so we were instructed to add in allergy medicine.
We were also referred to a Geneticist at TTUHSC. We saw him in June 2011 and completed all the lab work. This doctor was AMAZING! He spent over an hour talking to me, answering all my questions and observing Eli. When we first met with him, it was obvious that he had reviewed Eli's medical records and knew what he was talking about. Eli's therapists and pediatrician had questioned Autism. However, we really fought against that diagnosis at first. When we met with the Geneticist, he was able to explain to me what he was seeing in Eli. He had a lot of sensory-seeking behaviors; like his body was craving something sensory-related. Eli ran aimlessly around the exam room, then jumped up in my lap, grabbed my hair and stuck it in his ear, then almost immediately seemed calmer that what he was just seconds prior. He also described the OCD-like tendencies/rituals that Eli had developed as far as eating was concerned. He also talked about Eli's tendency to group things by like color, shape, size, etc... like it HAD to be in order. After this discussion, it finally seemed to click with us and the Geneticist diagnosed Eli with Pervasive Developmental Disorder (PDD) with Autistic features.
With the lab work the Geneticist ordered, we were both expecting it to show that Eli had a genetic disorder called Di George Syndrome or 22q-deletion syndrome. All the symptoms fit and we were just sure this is what it would be. Unfortunately the lab work had to be sent to a lab in California and I was informed to be prepared to wait 6-8 weeks for results. So, in August 2011, 2 months later, I received a phone call. Fully expecting it to be a nurse or receptionist, I was very surprised that it was actually the Geneticist on the other end of the line. He said, "Well, I'm really surprised that it's not 22q. That's what I expected. But it's not. Eli has something called Klinefelter's Syndrome." He then told us he was referring us to an Endocrinologist.
In the meantime, we began seeing a new Neurologist in San Antonio. Luckily, my wonderful cousin Andrea is a nurse at Heartland Children's Home in San Antonio and she was able to refer us to the Neurologist they use. And he was WONDERFUL, especially compared to the neurologist we had seen locally! He reminded me of the Geneticist; well-informed, very knowledgeable about Eli and very patient with us and all our questions! He was able to confirm the Geneticist's diagnosis of PDD. He also told us to monitor Eli's progress. If we weren't seeing progress in 6 months to come back; he was slightly concerned that Eli may have a brain tumor.
We recently returned to San Antonio to have an MRI done on Eli's brain. We were very pleased to find out that Eli did not have a brain tumor!!
Back-track a few months to September 2011.... We were able to see the Endocrinologist at TTUHSC. She confirmed the diagnosis of Klinefelter's Syndrome and was able to explain his some. Basically, Eli will most likely not produce any testosterone and will likely be infertile. Boys with this are also known as very passive, non-aggressive kids... they don't produce testosterone, so aggression simply isn't there! As adults, most are know to have major mood swings (without the hormone testosterone, monitoring and controlling their moods is very difficult) and usually really struggle in math and science. She also explained that it was very rare that we found out about this diagnosis so early. Usually, it is not discovered until they become adolescents and don't really hit puberty, or until they are adult men and are not able to have children with their significant other. So, her instructions were to wait 8-10 years, then come back to see her and she would monitor him for another year or 2, then start him on testosterone supplements.
Eli has also aged out of being able to receive services through ECI. He has begun seeing a Speech Language Pathologist at South Plains Rehab. She is really great with Eli and has been working with him on his sensory issues. Once we are able to get these things worked out, she will begin to work with him on his feeding!
Slowly, but surely we are beginning to get answers and make progress. Adam and I are really looking forward to seeing Eli grow and develop and begin doing all the "normal" little boy things! We can't wait until the day he says, "I want chicken nuggets!" and actually eats them! =)
Wednesday, March 28, 2012
Birth to 3
After such a stressful pregnancy, we were so thrilled that Eli was so healthy. When we had originally thought he would spend his first few months of life in the NICU and we were going home from the hospital, healthy, and just 2 days after being born.... what more could we ask for?! There were a few things we had to check in to. Eli had a hip-click. The pediatrician wasn't too concerned at first, but after finding out that I had previously had 4 hip surgeries, she referred us to see a pediatric orthopaedic doctor. We saw him several times and he felt sure that Eli had loose joints but they were nothing to worry about and released us from his care.
Our next trip to a specialist was a referral to a pediatric cardiologist. Eli had a heart murmur and his pediatrician wanted us to have it checked out. If you don't know my family history, here's a little background.... My dad had his first heart attack at 38 and passed away at 45 from his second. And virtually every uncle on my dad's side has also had heart attacks or serious heart problems. So, this referral obviously had us very nervous! We were informed by the cardiologist that Eli has a "musical" murmur; it is completely harmless. He did, however, find a collateral fistula. He explained this as an extra vein at the back of Eli's heart that dumps blood into his lungs. So, we are monitoring this to make sure that it does not change. Sometimes they get smaller, sometimes they stay the same, or sometimes they get larger. If is does get larger, the cardiologist will need to close it off. So, we just go for regular check ups every 6-12 months to monitor this.
Other than these few things, the first few years of Eli's life were fairly normal. The occasional cold or upper respiratory infection, but nothing too major. But eventually, the respiratory infections became more frequent. There were several times that he ended up with pneumonia. It seemed like Eli was constantly on antibiotics. Every time we went to the doctor, we were sent for more chest X-rays or a sinus series or lab work. The pediatrician finally made the decision to test Eli for cystic fibrosis. Talk about being terrified. It took three separate tests to finally come back with a definite negative. Even though we were obviously releived with this, there was still the question of "Why is he always so sick?". This is a question we still don't really have any answers to.
Then one day, I think sometime in August 2010, Eli had another respiratory infection. The only thing different about this time was the major effect that it had on Eli; it was like it happened over-night. Eli suddenly stopped eating, talking and sleeping. Having a child that was using many words and communicating fairly effectively suddenly revert to grunts and points as his only form of communication.... we were in shock. It was about 4 months before he ever said "momma" again.... 6 months before he said "dadda". The sleeping was wearing us down. Going from sleeping through the night since he was 4 months old to waking 5, 6, 7, 8 plus times a night, having scream-filled night terrors and sleep walking on an almost nightly basis. Adam and I became like zombies. Then the sleep walking began to happen during afternoon naps. But all this was a drop in the bucket compared to the eating. Eli had such a healthy appetite. Even though he was still on baby food and Gerber snacks, he always ate so much! Two veggies, a fruit, a yogurt, cookies, puffs.... all in one sitting! Then one day.... nothing. The next day, still nothing. And the next and the next..... nothing. Seven days later, he finally ate a little bit, but not nearly enough to make up for a week of not eating. This trend continued for several months.
Finally in November 2010, Eli was referred to a GI doctor. He ordered a GI scope and colonoscopy. He also pulled fluid from Eli's pancreas and biopsied his intestine. The onyl thing the doctor found was an amalayse enzyme deficiency, the first he had ever seen in his 20+ years of work. The solution, a pill form of medication to be taken with food. FYI, when your child is not eating..... this is a little difficult. We soon gave up on this medication and began focusing on Eli's eating. We had the help of feeding, occupational and speech therapists through ECI. Even then, progress was basically non-existent. By March 2011, Eli was 2 years old and barely at 19 pounds; and that was on a good day. He was still having periods of time, sometimes 7-8 days in a row, that he wasn't eating. We had numerous trips to the emergency room for dehydration and severe constipation. It was at the point that the GI doctor said it was time to do a feeding tube.
As scary as this was, it was also a saving grace. The couple of months before Eli got the feeding tube, Adam and I were a mess. There were times that we were terrified to let him sleep alone, afraid that we would go into his bedroom in the morning and he would be gone. After the feeding tube, things were still scary for a while. He was on 10 hour continuous feeds at night, so he would start crying in the middle of the night and we would go into his room to find the cord wrapped around his neck. We slept with him most night just to ensure that he didn't get choked. But, soon after getting the feeding tube, Eli began to talk again. He began sleeping better at night. But the eating never got better.
It's been just over a year now since Eli got his feeding tube. While his weight is more consistent, he has stopped spoon feeding. The one thing he eats: Go-gurt.... specifically Go-gurt. The little steps.... Eli ocassionally puts a cookie to his lips. We were ecstatic when he ate a sucker! We've learned to celebrate the small victories and keep pushing for more improvement. Maybe one day he'll get there. We have faith.
Our next trip to a specialist was a referral to a pediatric cardiologist. Eli had a heart murmur and his pediatrician wanted us to have it checked out. If you don't know my family history, here's a little background.... My dad had his first heart attack at 38 and passed away at 45 from his second. And virtually every uncle on my dad's side has also had heart attacks or serious heart problems. So, this referral obviously had us very nervous! We were informed by the cardiologist that Eli has a "musical" murmur; it is completely harmless. He did, however, find a collateral fistula. He explained this as an extra vein at the back of Eli's heart that dumps blood into his lungs. So, we are monitoring this to make sure that it does not change. Sometimes they get smaller, sometimes they stay the same, or sometimes they get larger. If is does get larger, the cardiologist will need to close it off. So, we just go for regular check ups every 6-12 months to monitor this.
Other than these few things, the first few years of Eli's life were fairly normal. The occasional cold or upper respiratory infection, but nothing too major. But eventually, the respiratory infections became more frequent. There were several times that he ended up with pneumonia. It seemed like Eli was constantly on antibiotics. Every time we went to the doctor, we were sent for more chest X-rays or a sinus series or lab work. The pediatrician finally made the decision to test Eli for cystic fibrosis. Talk about being terrified. It took three separate tests to finally come back with a definite negative. Even though we were obviously releived with this, there was still the question of "Why is he always so sick?". This is a question we still don't really have any answers to.
Then one day, I think sometime in August 2010, Eli had another respiratory infection. The only thing different about this time was the major effect that it had on Eli; it was like it happened over-night. Eli suddenly stopped eating, talking and sleeping. Having a child that was using many words and communicating fairly effectively suddenly revert to grunts and points as his only form of communication.... we were in shock. It was about 4 months before he ever said "momma" again.... 6 months before he said "dadda". The sleeping was wearing us down. Going from sleeping through the night since he was 4 months old to waking 5, 6, 7, 8 plus times a night, having scream-filled night terrors and sleep walking on an almost nightly basis. Adam and I became like zombies. Then the sleep walking began to happen during afternoon naps. But all this was a drop in the bucket compared to the eating. Eli had such a healthy appetite. Even though he was still on baby food and Gerber snacks, he always ate so much! Two veggies, a fruit, a yogurt, cookies, puffs.... all in one sitting! Then one day.... nothing. The next day, still nothing. And the next and the next..... nothing. Seven days later, he finally ate a little bit, but not nearly enough to make up for a week of not eating. This trend continued for several months.
Finally in November 2010, Eli was referred to a GI doctor. He ordered a GI scope and colonoscopy. He also pulled fluid from Eli's pancreas and biopsied his intestine. The onyl thing the doctor found was an amalayse enzyme deficiency, the first he had ever seen in his 20+ years of work. The solution, a pill form of medication to be taken with food. FYI, when your child is not eating..... this is a little difficult. We soon gave up on this medication and began focusing on Eli's eating. We had the help of feeding, occupational and speech therapists through ECI. Even then, progress was basically non-existent. By March 2011, Eli was 2 years old and barely at 19 pounds; and that was on a good day. He was still having periods of time, sometimes 7-8 days in a row, that he wasn't eating. We had numerous trips to the emergency room for dehydration and severe constipation. It was at the point that the GI doctor said it was time to do a feeding tube.
As scary as this was, it was also a saving grace. The couple of months before Eli got the feeding tube, Adam and I were a mess. There were times that we were terrified to let him sleep alone, afraid that we would go into his bedroom in the morning and he would be gone. After the feeding tube, things were still scary for a while. He was on 10 hour continuous feeds at night, so he would start crying in the middle of the night and we would go into his room to find the cord wrapped around his neck. We slept with him most night just to ensure that he didn't get choked. But, soon after getting the feeding tube, Eli began to talk again. He began sleeping better at night. But the eating never got better.
It's been just over a year now since Eli got his feeding tube. While his weight is more consistent, he has stopped spoon feeding. The one thing he eats: Go-gurt.... specifically Go-gurt. The little steps.... Eli ocassionally puts a cookie to his lips. We were ecstatic when he ate a sucker! We've learned to celebrate the small victories and keep pushing for more improvement. Maybe one day he'll get there. We have faith.
Monday, March 26, 2012
The Pregnancy
Had I known that, at three years old, Eli's life would have been so filled with these experiences, I would have started this blog in the beginning. However, how could we have known? So, now that we seem to have some direction and answers, I decided that now was as good a time as any to go ahead and start blogging. I know a lot of our friends and family know the details of the past three years, but I also know many of our acquaintances or friends of friends don't. So this first entry is a little bit of history. Hopefully it will help everyone to understand what the past three years have been like for us.
When Adam and I found out we were pregnant, everything seemed fairly normal. It wasn't until about 19 weeks in that things started to change. I was at work one day and began having some pressure and pain. Out OB, Dr. Killeen, assured us that it was nothing to worry about. A week later, when we saw our specialist, Dr. Atkinson, he seemed a bit more concerned. He monitored me for a while, put me on medication and sent me home with instructions to return in a few days to be monitored again. So, we went home, went about our business as normal, returning a few days later as instructed. As I was hooked up to be monitored, I began to notice nurses checking in a bit more than usual. They'd come in, look at the screen, check the tape, re-position my straps, then leave.... only to return a few minutes later to do it all again. At the end of the appointment, the head nurse came in with papers saying, "We're admitting you to the hospital. You're in pre-term labor." She then began to give us directions of where to go and instructions of what to do once we got there. Honestly, I couldn't tell you what she said. Thank God for Adam... I probably would have been wondering around the parking lot the rest of the day if it hadn't been for him. So we left the office and headed to the hospital, calling family on our way. Once we arrived, nurses seemed to kick into high gear; hooking me up to monitors, putting in IV's and pumps.
During my 17-day stay at the hospital, we took a tour of the NICU. We were told this is the size your baby will be (as one nurse held up a 16.5 oz coke bottle) and these are the problems your baby will have, as they went through a lengthy list of medical conditions. Dazed, we returned to our room to rest, mentally trying to process everything we had just seen and heard. Thankfully, we were sent home on December 5. The doctors said, "Well, you're in labor but there is not much more we can do here." So, we came home where I spent the remainder of my pregnancy on strict bedrest with one activity allowed per day and in a wheelchair any time I left the house.
We made several trips back to the hospital during that time, with intense contractions and pain. I'd get a dose of medication, be monitored for a bit, then sent home again with instructions to rest. We also had two amnio's done to check for lung maturity. We were finally told on Monday, March 1 that Eli's lungs were mature enough to deliver. It was only 3 weeks early, which was a complete blessing, considering where we were a few months prior. So, on the morning of Wednesday, March 3, we went into the hospital and delivered our little miracle, Elijah Kevin Rouse, via C-section. We were finally able to hold our little Eli. We were now a family. Our lives had just completely changed and it was the most amazing feeling in the world and we couldn't be happier.
When Adam and I found out we were pregnant, everything seemed fairly normal. It wasn't until about 19 weeks in that things started to change. I was at work one day and began having some pressure and pain. Out OB, Dr. Killeen, assured us that it was nothing to worry about. A week later, when we saw our specialist, Dr. Atkinson, he seemed a bit more concerned. He monitored me for a while, put me on medication and sent me home with instructions to return in a few days to be monitored again. So, we went home, went about our business as normal, returning a few days later as instructed. As I was hooked up to be monitored, I began to notice nurses checking in a bit more than usual. They'd come in, look at the screen, check the tape, re-position my straps, then leave.... only to return a few minutes later to do it all again. At the end of the appointment, the head nurse came in with papers saying, "We're admitting you to the hospital. You're in pre-term labor." She then began to give us directions of where to go and instructions of what to do once we got there. Honestly, I couldn't tell you what she said. Thank God for Adam... I probably would have been wondering around the parking lot the rest of the day if it hadn't been for him. So we left the office and headed to the hospital, calling family on our way. Once we arrived, nurses seemed to kick into high gear; hooking me up to monitors, putting in IV's and pumps.
During my 17-day stay at the hospital, we took a tour of the NICU. We were told this is the size your baby will be (as one nurse held up a 16.5 oz coke bottle) and these are the problems your baby will have, as they went through a lengthy list of medical conditions. Dazed, we returned to our room to rest, mentally trying to process everything we had just seen and heard. Thankfully, we were sent home on December 5. The doctors said, "Well, you're in labor but there is not much more we can do here." So, we came home where I spent the remainder of my pregnancy on strict bedrest with one activity allowed per day and in a wheelchair any time I left the house.
We made several trips back to the hospital during that time, with intense contractions and pain. I'd get a dose of medication, be monitored for a bit, then sent home again with instructions to rest. We also had two amnio's done to check for lung maturity. We were finally told on Monday, March 1 that Eli's lungs were mature enough to deliver. It was only 3 weeks early, which was a complete blessing, considering where we were a few months prior. So, on the morning of Wednesday, March 3, we went into the hospital and delivered our little miracle, Elijah Kevin Rouse, via C-section. We were finally able to hold our little Eli. We were now a family. Our lives had just completely changed and it was the most amazing feeling in the world and we couldn't be happier.
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