When we left the g.i. office I was at a loss. A baby is not supposed to be sick. Their new life should be full of wonder, discovery, and vigor, not white coats and needles. Not to mention the now shattered faith I had in the doctors to give us answers, not just more questions.
After the appointment, I dropped Nick and Cole at home because I needed to be alone. As I drove to the hospital pharmacy, anger and confusion took turns swelling over me like waves before ultimately receding to sadness for my son. Why did he have to endure all of this? Why couldn't it be me instead?
I picked up his medicine, but didn't start it that evening because he had a fever. I wanted to be sure he was alright before introducing anything else into his little body. The next day the pharmacy called and was relieved to hear we hadn't begun since the dosing on two of the medications was incorrect. Once we had been apologized to profusely and told correct amounts, we called the doctor to double check again. They assured us it was right.
A few days later one of the gastro doctors called us to check on Cole. It was at this point we learned they were consulting with another doctor in Montreal. His advice was to see an immunologist as soon as possible. The g.i. doctor had already made us an appointment for the following week.
Before the physical, the doctor had many questions about Cole's journey. She discussed her observations about Cole based on his previous tests and her exam. After ordering more blood work to check a few things she told us it was nice to meet us, then, wished us luck since she didn't anticipate the need to see us again.
Imagine my surprise when checking in at the hospital for his appointment and finding her waiting for us. A few outstanding blood tests had returned since we had met and she explained the need to have additional screens run on Cole. One of these tests would go to Roswell Park, not because he had cancer, but because of their expertise in what she was looking to have analyzed. Another would have to be drawn the following week and sent to the Cincinnati Children's Hospital to check something called NK cell function.
While the nurses poked around, commenting on the atrocious state of his veins as he wiggled and wailed, I tried without success to calm Cole with his favorite song, Five Little Monkeys.
All of it hit me in that moment, the past week of expedited appointments and tests, the idea of sending specimens to Roswell and Cincinnati, the g.i. doctor's echo that they had never seen anything quite like this and yet another blood battle, it was like being hurled into a brick wall. Here I began the day thinking we were just having precautionary tests. Within minutes the new detour had thrown me for a loop, leaving me grasping to understand the bits of new information about what NK cells were and what they were hoping to find in these tests, which now felt anything but routine.
Once again, we waited.
The phone call came a few weeks later. Overall, most of the tests were in the normal range, which was a good thing, but the test from Cincinnati was alarming. Cole's NK cells were severely dysfunctional. In other words, his immune system was not working the way it should be. The good news was that he had some function, which was better than the zero that some kids have.
With such low function, as well as Cole's other symptoms, immunology suspected Cole might have a primary immunodeficiency. They referred us to genetics in order to have a test for a rare genetic disorder called NEMOS.
Days dragged as we waited for our appointment, little did we know what kind of wait we were in for.
This appointment was unlike the others. Most of the time we met with a genetic counselor. First, she built an extensive family tree, outlining all medical conditions we were aware of in a few generations of our extended families. Then she explained exactly why Cole was having the test and how results were formulated. Results would take between 4- 6 weeks, maybe longer, since there were more than 20,000 pairs of chromosomal code to be analyzed. Even after the test was complete, results could need further interpretation by comparing them to the genetic codes of my siblings and me.
Once we were clear on what exactly NEMOS was, why the disorder was suspected, and what the testing entailed, we met the doctor. She was compassionate, swiftly completing her assessment while warmly addressing our concerns and giving us advice. After she finished, we signed consent forms for the test and were moved to another waiting room before the blood draw.
This time I let Daddy do the honors as I snuck over to the hospital pharmacy to pick up refills. When the draw was done, we left, emotionally exhausted from the day, with answers seemingly ages away.
Which brings us to today. We are still waiting. Each time the phone rings and I see a doctor's number on the caller id my heart skips a beat.
Throughout all of this, we've faced other challenges. We've continued the food fight, but learned Cole loves bananas and venison, luckily, not together. We've struggled with developmental delays, however he makes a little progress every day and is catching up. We've even come up with a few tricks to get Cole to take his medicines so I am no longer wearing them as my latest accessory.
In the meantime, like other parents, we've been celebrating milestones. Cole's first birthday and first steps, weight gain after a month of weight loss, his literal burst of mobility after the magic course of steroids, and the first full night of sleep.
Every day is different, some much better than others. Yet each day brings out more of his emerging personality, one filled with antics, and let me tell you, with Cole and his sisters, we will never lack for laughter, even in these uncertain times.
Showing posts with label gastrointestinal. Show all posts
Showing posts with label gastrointestinal. Show all posts
Thursday, February 2, 2012
Monday, January 23, 2012
Reflecting
As I look at this week's schedule, I'm glad we are seeing a familiar specialist. Every time we go to a new doctor we have to retrace our steps, recreate Cole's journey from the beginning even though records and results have been shared before we've stepped foot in the office. While I realize it's necessary, it is also draining.
Reflecting on the past year, whether in a doctor's office or in my head, leaves me needing to take a deep breath and slowly exhale. Lately, I've been tackling the triumphs and challenges of each day as they come instead of looking backwards or looking too far ahead.
I've learned that there's no controlling certain situations, that they themselves force you to suspend plans, as if you've pressed the pause button on the future. Instead, at least for me, the best way to cope is to live life purely in the moment and for the day.
That being said, when I think about everything that has led to today, I am almost overwhelmed. Not in an "I can't handle this" sense, but more of an "I can't believe Cole has been through all of this already."
At the same time, I'm thankful. I think of some of the families I've talked to in waiting rooms and how much harder their journeys have been! So while it does break my heart to watch my son go through each needle prick or to listen helplessly while he screams from the inside of an imagining machine, I know it could be much worse on so many different levels.
Many of you have been with me every step of the way, following the saga as it began to unfold, whether it be hearing from me or getting updates from other very close family or friends. The more appointments and tests we were hustled to, the harder it became to update everyone waiting for a call. I didn't feel these rundowns were appropriate Facebook status messages, especially since most of the time we were left with more questions than when we walked into each consultation. Without answers, I didn't feel I had much to share about how our little guy was doing. In fact, that's where I am right now.
Still, I feel compelled to reflect and share our timeline, since I know many of you are curious as to where the updates are and there are some of you who are just starting to follow our plight, and in order to make sense of where we are now, I believe it helps to know where we've been.
Here it is, as short and sweet as I can make it.
Cole was born full term after a very fast, difficult labor. Initially, my husband and I were able to hold him but while he was under routine evaluations nurses noted that he could not maintain his body temperature.
As a precaution, our baby was rushed to the NICU. For the first 24 hours, each visit to the unit seemed to bring more unexpected news; suspected sepsis, continued low blood sugar readings, and the need for a feeding tube.
Slowly, our son began to recover and learn to eat, so we were able to bring him home but were told to be cautious, that we should not expose him to anyone who might be sick.
So we came home, had very quiet holidays with just our kids and brief visits from the grandparents. It was an odd winter. After a fall of taking it easy, I was ready to be social, but in Cole's best interests we lived in a cocoon for the winter, waiting for spring when we could push ourselves out and spread our wings.
Things seemed to be going well until Cole was just about three months old.
At the end of February we were finding ourselves in a better groove as parents of three kids. Our five year old was such a little mom, helping with anything she could. On the other hand, whatever bucket of trouble was around, our three year old would not only stumble upon, but dive into, doing her best to become the center of attention. She loved her brother and would try to help, but at the same time she missed being the baby and had no problems making this fact known.
About this time, we started noticing blood in Cole's diapers. At first it was a few streaks here and there, then it turned into giant globs. Something was wrong.
Our pediatrician sent us to Women and Children's hospital for an evaluation. After an ultrasound to rule out telescoping of his intestines they determined he was most likely allergic or sensitive to dairy and soy. Since Cole was exclusively breastfeeding, this meant no more soy or dairy for me. The doctors told me once I eliminated both elements from my diet it wouldn't be long before we saw an improvement and in the end, most kids outgrow these protein allergies by their first birthdays.
After a few weeks passed, there was no improvement, Cole continued to bleed. In addition, after his four month immunizations he began to have a very odd fever pattern. In the end, it was determined that he must have had a shot reaction. His next round would be split up, one shot at a time.
Spring turned to summer, the symptoms continued, yet we were told to keep up with the elimination diet and to try feeding Cole different foods. Initially, he ate a little, then he refused to eat anything, just wailed and pushed all food away. The screeching went on throughout meal times as well as the rest of the day while his "output" declined. No matter what we tried to feed him, if he ate two baby spoonfuls we were lucky.
In August my husband and I were at a loss with what to do. For me, I felt like I must be doing something wrong - but what? This wasn't our first baby and while I had many questions and was often unsure of what I was doing with Paige, our first, I was very confident with Gwyneth, our second. Being our third, I was sure we were in for smooth sailing.
At our appointment this month we were assured the allergy should disappear by his birthday. However, I still had a nagging in my gut that something was not right. After all, at this point he was eight months old and besides all the medical issues, he was barely trying to roll over, sit up, or crawl. Instead, he would remain in the middle of whatever blanket I would lay him on.
We were sent for blood work and told we could do a colonoscopy to see what was happening. When the blood results were in, we learned Cole was severely anemic, which could account for his low activity level. To treat his anemia, he was placed on iron supplements. Doctors also decided he would undergo a few other less invasive tests to rule out other conditions before scheduling his colonoscopy.
Both tests showed nothing so the colonoscopy was scheduled in October. We had to wait a bit because Cole would need to be in an operating room just in case. The hour in the waiting room after he was taken from me was excruciating! I watched doctor after doctor come out and talk to parents in the waiting room. When Cole's physicians appeared they asked me to follow them.
Once in the consultation room the resident began to show me pictures of what they had found. As he moved from image to image he tried to describe the hundreds of nodules they had discovered. Before long, the more experienced physician took over, gently explaining the abnormality of what they observed, but assured us that before we worried too much about what could be we should wait for the biopsy results. She handed me pictures, an appointment date and led me to my son in recovery.
Wires and tubes wrapped their slender coils around my baby like ivy. Seeing him asleep, yet so pale and so helpless made me sad that we had to put him through the whole thing. As I sat in the rocking chair and reached for his tiny hand, the nurse told me she was so sorry. Through our conversation I learned she saw the pictures from Cole's test and from her experience had not seen anything so extensive in such a little one. While we waited for our appointment day her comment lodged itself in my head, adding to my nervousness.
With our appointment still a week away, the phone rang. It was the g.i. practice. While they could not share results over the phone, they wanted us to come in first thing in the morning instead of the following week. Once we were there, they did an exam, which I thought was odd because he had just had one prior to his procedure. My husband reminded the doctor that we were there for test results, not an exam, and the resident smiled, said this was routine and that he needed to go get another doctor.
The two doctors walked in and sat down. Now, I know from past experiences that when multiple doctors ask you to sit down, what they may share with you may not be good. Both physicians explained how the practice sat down to discuss Cole and look at similar case studies since they had not experienced anything quite like this in someone so young. They told us as a group they had different thoughts on how to progress. It could be a number of things, Crohns disease, ulcerative colitis, or something else. They just weren't sure. For now, they would treat Cole as if he had Crohns and would order IBD panels to see if these nodules were the likely result of one of these irritable bowel diseases. We asked questions and at the end of the appointment both doctors wished us luck and sent us home.
Our ride home was quiet. I know my head was reeling. How could doctors not know? How could a baby have something like this? How could I stand by and do nothing but give him meds and wait?
When I shared what the doctors had to say with my sister, she gave me some advice, as she often does whether I want it or not. She and her husband had once experienced some bad news about one of their kids. She said, let myself be upset, cry if I needed to, but limit the wallowing, it wouldn't do any good, I couldn't change what was happening by being upset. Just take a night, be upset, then move forward with whatever needed to be done. Be strong and happy, for it would be best for not only me but all our kids.
It is this advice I come back to when I'm tempted to feel sorry for Cole or our situation. Really, it could be worse. And while I would give anything to take it away from him and go through it all myself, I can't. Accepting what is out of my hands has been tough for me, but has also made me realize just how strong I can be.
It is from this point that our journey took off like the speed of light. Stay around for the ride, it starts to get wilder than I ever would have imagined.
Reflecting on the past year, whether in a doctor's office or in my head, leaves me needing to take a deep breath and slowly exhale. Lately, I've been tackling the triumphs and challenges of each day as they come instead of looking backwards or looking too far ahead.
I've learned that there's no controlling certain situations, that they themselves force you to suspend plans, as if you've pressed the pause button on the future. Instead, at least for me, the best way to cope is to live life purely in the moment and for the day.
That being said, when I think about everything that has led to today, I am almost overwhelmed. Not in an "I can't handle this" sense, but more of an "I can't believe Cole has been through all of this already."
At the same time, I'm thankful. I think of some of the families I've talked to in waiting rooms and how much harder their journeys have been! So while it does break my heart to watch my son go through each needle prick or to listen helplessly while he screams from the inside of an imagining machine, I know it could be much worse on so many different levels.
Many of you have been with me every step of the way, following the saga as it began to unfold, whether it be hearing from me or getting updates from other very close family or friends. The more appointments and tests we were hustled to, the harder it became to update everyone waiting for a call. I didn't feel these rundowns were appropriate Facebook status messages, especially since most of the time we were left with more questions than when we walked into each consultation. Without answers, I didn't feel I had much to share about how our little guy was doing. In fact, that's where I am right now.
Still, I feel compelled to reflect and share our timeline, since I know many of you are curious as to where the updates are and there are some of you who are just starting to follow our plight, and in order to make sense of where we are now, I believe it helps to know where we've been.
Here it is, as short and sweet as I can make it.
Cole was born full term after a very fast, difficult labor. Initially, my husband and I were able to hold him but while he was under routine evaluations nurses noted that he could not maintain his body temperature.
As a precaution, our baby was rushed to the NICU. For the first 24 hours, each visit to the unit seemed to bring more unexpected news; suspected sepsis, continued low blood sugar readings, and the need for a feeding tube.
Slowly, our son began to recover and learn to eat, so we were able to bring him home but were told to be cautious, that we should not expose him to anyone who might be sick.
So we came home, had very quiet holidays with just our kids and brief visits from the grandparents. It was an odd winter. After a fall of taking it easy, I was ready to be social, but in Cole's best interests we lived in a cocoon for the winter, waiting for spring when we could push ourselves out and spread our wings.
Things seemed to be going well until Cole was just about three months old.
At the end of February we were finding ourselves in a better groove as parents of three kids. Our five year old was such a little mom, helping with anything she could. On the other hand, whatever bucket of trouble was around, our three year old would not only stumble upon, but dive into, doing her best to become the center of attention. She loved her brother and would try to help, but at the same time she missed being the baby and had no problems making this fact known.
About this time, we started noticing blood in Cole's diapers. At first it was a few streaks here and there, then it turned into giant globs. Something was wrong.
Our pediatrician sent us to Women and Children's hospital for an evaluation. After an ultrasound to rule out telescoping of his intestines they determined he was most likely allergic or sensitive to dairy and soy. Since Cole was exclusively breastfeeding, this meant no more soy or dairy for me. The doctors told me once I eliminated both elements from my diet it wouldn't be long before we saw an improvement and in the end, most kids outgrow these protein allergies by their first birthdays.
After a few weeks passed, there was no improvement, Cole continued to bleed. In addition, after his four month immunizations he began to have a very odd fever pattern. In the end, it was determined that he must have had a shot reaction. His next round would be split up, one shot at a time.
Spring turned to summer, the symptoms continued, yet we were told to keep up with the elimination diet and to try feeding Cole different foods. Initially, he ate a little, then he refused to eat anything, just wailed and pushed all food away. The screeching went on throughout meal times as well as the rest of the day while his "output" declined. No matter what we tried to feed him, if he ate two baby spoonfuls we were lucky.
In August my husband and I were at a loss with what to do. For me, I felt like I must be doing something wrong - but what? This wasn't our first baby and while I had many questions and was often unsure of what I was doing with Paige, our first, I was very confident with Gwyneth, our second. Being our third, I was sure we were in for smooth sailing.
At our appointment this month we were assured the allergy should disappear by his birthday. However, I still had a nagging in my gut that something was not right. After all, at this point he was eight months old and besides all the medical issues, he was barely trying to roll over, sit up, or crawl. Instead, he would remain in the middle of whatever blanket I would lay him on.
We were sent for blood work and told we could do a colonoscopy to see what was happening. When the blood results were in, we learned Cole was severely anemic, which could account for his low activity level. To treat his anemia, he was placed on iron supplements. Doctors also decided he would undergo a few other less invasive tests to rule out other conditions before scheduling his colonoscopy.
Both tests showed nothing so the colonoscopy was scheduled in October. We had to wait a bit because Cole would need to be in an operating room just in case. The hour in the waiting room after he was taken from me was excruciating! I watched doctor after doctor come out and talk to parents in the waiting room. When Cole's physicians appeared they asked me to follow them.
Once in the consultation room the resident began to show me pictures of what they had found. As he moved from image to image he tried to describe the hundreds of nodules they had discovered. Before long, the more experienced physician took over, gently explaining the abnormality of what they observed, but assured us that before we worried too much about what could be we should wait for the biopsy results. She handed me pictures, an appointment date and led me to my son in recovery.
Wires and tubes wrapped their slender coils around my baby like ivy. Seeing him asleep, yet so pale and so helpless made me sad that we had to put him through the whole thing. As I sat in the rocking chair and reached for his tiny hand, the nurse told me she was so sorry. Through our conversation I learned she saw the pictures from Cole's test and from her experience had not seen anything so extensive in such a little one. While we waited for our appointment day her comment lodged itself in my head, adding to my nervousness.
With our appointment still a week away, the phone rang. It was the g.i. practice. While they could not share results over the phone, they wanted us to come in first thing in the morning instead of the following week. Once we were there, they did an exam, which I thought was odd because he had just had one prior to his procedure. My husband reminded the doctor that we were there for test results, not an exam, and the resident smiled, said this was routine and that he needed to go get another doctor.
The two doctors walked in and sat down. Now, I know from past experiences that when multiple doctors ask you to sit down, what they may share with you may not be good. Both physicians explained how the practice sat down to discuss Cole and look at similar case studies since they had not experienced anything quite like this in someone so young. They told us as a group they had different thoughts on how to progress. It could be a number of things, Crohns disease, ulcerative colitis, or something else. They just weren't sure. For now, they would treat Cole as if he had Crohns and would order IBD panels to see if these nodules were the likely result of one of these irritable bowel diseases. We asked questions and at the end of the appointment both doctors wished us luck and sent us home.
Our ride home was quiet. I know my head was reeling. How could doctors not know? How could a baby have something like this? How could I stand by and do nothing but give him meds and wait?
When I shared what the doctors had to say with my sister, she gave me some advice, as she often does whether I want it or not. She and her husband had once experienced some bad news about one of their kids. She said, let myself be upset, cry if I needed to, but limit the wallowing, it wouldn't do any good, I couldn't change what was happening by being upset. Just take a night, be upset, then move forward with whatever needed to be done. Be strong and happy, for it would be best for not only me but all our kids.
It is this advice I come back to when I'm tempted to feel sorry for Cole or our situation. Really, it could be worse. And while I would give anything to take it away from him and go through it all myself, I can't. Accepting what is out of my hands has been tough for me, but has also made me realize just how strong I can be.
It is from this point that our journey took off like the speed of light. Stay around for the ride, it starts to get wilder than I ever would have imagined.
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