There are times lately where I just am at a loss for words.
Whirlwind doesn't begin to describe our last month. Between the start of soccer and end of the year festivities, we survived a very long viral infection with the boy. Luckily, while it was tough and fast, the flare that came after only lasted a few days. However, we are now combating the after effects of the weight he has lost.
On the other hand, a few weeks ago we participated in the Take Steps Against Crohn's and Colitis in honor of Cole. Not only was it powerful to see so many other people there in support of IBD, but heartwarming to be joined by so many people on our team in support of not just Cole, but our family. It has been a challenging journey and this day reminded me that we are not alone, even though there are days it sure feels like it.
Throughout our medical odyssey, there has been tremendous "hurry up and wait" in terms of testing and moving forward. It seems we've returned to the first part of the cycle once again.
Once again, we are heading for numerous blood tests as ordered by a world renowned immunologist whose specialty is nk cell function.
Late Friday afternoon we received a call from our immunologist outlining some of this doctor's concerns as well as his desire to have a number of new tests run that should offer answers, or at the least, further direction. Due to the impressively low function, yet not the absence of function, this man believes there must be an underlying cause, not just Cole's IBD. Again, the blood markers he is looking for in combination with the other panels being run should confirm or discredit some of his thoughts.
As before, some of the blood drawn will go to Cincinnati Children's. Additionally, a portion will be sent to a lab in Philadelphia. Some of the tests take a few days, some others, a week or two. These waits aren't really all that long, considering the lengthy wait last December for Cole's genetic panel for NEMOS. Still, depending on the results we already know further genetic testing may be done and I am not looking forward to that wait.
But, no matter what, I will continue to be patient, one day at a time. I will continue to share here, just know that there are days neither Nick or I have the words to express where we are and are just trying to keep things as normal as possible for the kids as we move down this road. This new normal has taught me more than I could ever describe, and my heart goes out to those parents and families whose adventures are much harder than ours. It is in talking to these families I realize how truly fortunate we are, no matter how difficult our path has been, it could be so much steeper.
Showing posts with label primary immunodeficiency. Show all posts
Showing posts with label primary immunodeficiency. Show all posts
Sunday, June 24, 2012
Friday, February 24, 2012
Deep Breathing
Experts say that deep breathing is one of the best exercises for staying calm and relieving stress. Sure, it works, but so does driving down the Thruway with the radio blaring. Which happened to be the best medicine for me Wednesday morning.
It had been a long night with Paige, her fever had continued to spike over 104 even with medicine. Initially when I called the doctor we were told to go to Children's, but she would have to contact them first to let them know we were on our way. Before we could get out the door, the nurse called us back, telling us Children's did not want her there spreading whatever infection she had and that we needed to give the antibiotic time to work. Even though we were not going, we needed to watch her closely, so I settled in the recliner with my book ready for the night shift.
High temperatures are frightening. Even after popping her in tub, her temperature only fell a few tenths of degrees. In between each bout of sweats as the fever broke and before its inevitable rise she would talk in her sleep. This would have been much funnier had I not been so worried about her. The last time it happened, she sat straight up, looked at me and told me she "couldn't write anymore, there was something on her eraser!" Then she proceeded to lay right back down, snuggling Pooh Bear as tight as could be. Not long after, the chills set in, and after the last fresh tub, set of jammies, and bedding for the night at about 4, it seemed she was finally on the mend. Once I knew she was ok, I allowed myself to shut my eyes, hoping for a few hours before the little man called for me.
To say I was looking forward to a nap not long after I awoke the next morning was an understatement! Still, I was pretty happy that after three days she was actually asking to eat. I didn't care what she wanted, I would make anything. After polishing off two plain pink pancakes she scurried off to play with her sister.
Balance was returning to our house when the phone rang. It was our immunologist. I was caught off guard. Shouldn't examining the specimen and running tests take longer? I knew she would be calling, but in my mind I was prepared for a call in the afternoon. Without hesitation, I was informed that due to the biopsy findings the game had changed. The presence of a granuloma in addition to his other labs meant that Cole matched criteria for a disease they were not looking at before.
CGD, or Chronic Granulomatous Disease is now the illness they are considering. Our physician explained that CGD is another rare primary immunodeficiency disease that would require a lifetime of medication and limits to activities as well as a possible bone marrow transplant. Luckily, the test for this disease could be done here in Buffalo. We would need to go to Children's for a test sometime this morning or wait until Monday since the expert would need two consecutive days to work with the live cells. If we went today, we would know by the end of the week. Needless to say, running on adrenaline and caffeine I packed up the baby and off we went.
On my way, my head was just spinning with a million what ifs. The happy chatter from my little man only made my thoughts race faster. How could any of this be? Honestly, in this moment I could feel the anger pumping its way through my veins in a way I have never felt in my life. Maybe it was the lack of sleep over the past week, since it seems I've been able to divert this feeling for some time. Logically I know, CGD may not be what he has, but I still couldn't stop the feeling of fury as I thought of what his future might be if this test comes back as a positive.
My red passion melted quickly with a good song and the giggling drifting through the car from the back seat. I'm convinced he was laughing at my singing ability or lack thereof by the way. The more I thought about it, I realized and understood that I was not angry, just absolutely terrified of what may lie ahead. Not just all the medical stuff, but afraid of the heartbreak that could hit everyone we love. While valid, these are not places I wanted to let my mind to inhabit.
As I arrived at the hospital and held my precious child in my arms I vowed that no matter what I was feeling, each day would be cheerful, not just for Cole, but for the girls and Nick and I as well. We would be optimistic and trust that all of this is happening for a reason. I've even gone back to reminding myself daily not to dwell on what I cannot change, to lessen the risk of being consumed by worry so I am not gasping for breath like a fish out of water. Instead, I will not look too far down the road when I don't have to, just take things one day at a time, one moment at a time, one breath at a time so I can stay in the eye of this storm.
Don't worry, as we wait, I am practicing my deep breathing in between belting out some silly songs as all the kids giggle.
It had been a long night with Paige, her fever had continued to spike over 104 even with medicine. Initially when I called the doctor we were told to go to Children's, but she would have to contact them first to let them know we were on our way. Before we could get out the door, the nurse called us back, telling us Children's did not want her there spreading whatever infection she had and that we needed to give the antibiotic time to work. Even though we were not going, we needed to watch her closely, so I settled in the recliner with my book ready for the night shift.
High temperatures are frightening. Even after popping her in tub, her temperature only fell a few tenths of degrees. In between each bout of sweats as the fever broke and before its inevitable rise she would talk in her sleep. This would have been much funnier had I not been so worried about her. The last time it happened, she sat straight up, looked at me and told me she "couldn't write anymore, there was something on her eraser!" Then she proceeded to lay right back down, snuggling Pooh Bear as tight as could be. Not long after, the chills set in, and after the last fresh tub, set of jammies, and bedding for the night at about 4, it seemed she was finally on the mend. Once I knew she was ok, I allowed myself to shut my eyes, hoping for a few hours before the little man called for me.
To say I was looking forward to a nap not long after I awoke the next morning was an understatement! Still, I was pretty happy that after three days she was actually asking to eat. I didn't care what she wanted, I would make anything. After polishing off two plain pink pancakes she scurried off to play with her sister.
Balance was returning to our house when the phone rang. It was our immunologist. I was caught off guard. Shouldn't examining the specimen and running tests take longer? I knew she would be calling, but in my mind I was prepared for a call in the afternoon. Without hesitation, I was informed that due to the biopsy findings the game had changed. The presence of a granuloma in addition to his other labs meant that Cole matched criteria for a disease they were not looking at before.
CGD, or Chronic Granulomatous Disease is now the illness they are considering. Our physician explained that CGD is another rare primary immunodeficiency disease that would require a lifetime of medication and limits to activities as well as a possible bone marrow transplant. Luckily, the test for this disease could be done here in Buffalo. We would need to go to Children's for a test sometime this morning or wait until Monday since the expert would need two consecutive days to work with the live cells. If we went today, we would know by the end of the week. Needless to say, running on adrenaline and caffeine I packed up the baby and off we went.
On my way, my head was just spinning with a million what ifs. The happy chatter from my little man only made my thoughts race faster. How could any of this be? Honestly, in this moment I could feel the anger pumping its way through my veins in a way I have never felt in my life. Maybe it was the lack of sleep over the past week, since it seems I've been able to divert this feeling for some time. Logically I know, CGD may not be what he has, but I still couldn't stop the feeling of fury as I thought of what his future might be if this test comes back as a positive.
My red passion melted quickly with a good song and the giggling drifting through the car from the back seat. I'm convinced he was laughing at my singing ability or lack thereof by the way. The more I thought about it, I realized and understood that I was not angry, just absolutely terrified of what may lie ahead. Not just all the medical stuff, but afraid of the heartbreak that could hit everyone we love. While valid, these are not places I wanted to let my mind to inhabit.
As I arrived at the hospital and held my precious child in my arms I vowed that no matter what I was feeling, each day would be cheerful, not just for Cole, but for the girls and Nick and I as well. We would be optimistic and trust that all of this is happening for a reason. I've even gone back to reminding myself daily not to dwell on what I cannot change, to lessen the risk of being consumed by worry so I am not gasping for breath like a fish out of water. Instead, I will not look too far down the road when I don't have to, just take things one day at a time, one moment at a time, one breath at a time so I can stay in the eye of this storm.
Don't worry, as we wait, I am practicing my deep breathing in between belting out some silly songs as all the kids giggle.
Thursday, February 2, 2012
Still Reflecting
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.
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.
Tuesday, January 17, 2012
Waiting
As a kid, I found it hard to be patient. Christmas morning just couldn't come fast enough! Like any other child, I was bursting with excitement, like a kernel of corn ready to pop, anticipating Santa's arrival. That all changed the year I stumbled upon "Santa's" secret storage spot.
I had won the kids' lottery! Quickly, I rifled through all the boxes and bags in the back of my parents' closet, searching for the treasures that would soon be mine. With stealth I stalked new arrivals to the closet and cataloged the contents in my head.
That year, Christmas morning wasn't quite the same. I knew needed to act excited when I revealed what I had been anxiously awaiting, but with the surprise missing, the magic of the morning just wasn't the same.
From then on, I learned that sometimes waiting was better than the instant "now" gratification.
Which brings us to today. Today begins another day of waiting. Unfortunately it is not for Christmas morning.
Today could be the day, a fork in the road we are on, or it might not. You see we are expecting a phone call at any point now that could alter our course as a family even more than it's already been altered.
About a month ago Cole underwent genetic testing for NEMOS disease, which is a primary immunodeficiency. This is not the first test Cole has had by a long shot, yet with the stakes seem to be higher with every test that is ordered. After all, initially we were under the impression that he just had allergies. Now, I'd give just about anything for that to be the case.
On Friday the phone rang, and the hospital's number popped up on our caller id. My stomach dropped and I swore my heart was going to jump out of my chest as the moment of truth had arrived.
In the end, it was another specialist with just a question for me about Cole. I caught my breath while my pulse slowed back to normal and wondered if I was really ready for the phone call to come.
Now, a few days later here we are, still waiting.
While we wait, our days go on as usual, filled with work and school schedules, books and play, homework, cooking and cleaning, meals and baths. The busy music composed by the kids drowns out the questions resonating in the back of my mind that bubble to the surface when the house is quiet. All the what ifs. What if he really has NEMOS? What if he doesn't? Then what? What else could it be? When will we know? What will we be able to do?
As crazy as this sounds, as much as I want the answers to these questions as soon as possible, I'm OK with waiting just for today. While we are stuck in the holding pattern, our days are not punctuated by appointments and blood work, just our home routine with a few prescriptions sprinkled throughout the day reminding us of Cole's continuous challenge.
While I'm frustrated that we can't move on, there is nothing else I can do while I wait but enjoy the good moments with all the kids. After all, it's been nice to have had a few weeks where Cole has not been poked or prodded but is babbling and bouncing. I cherish these days of normalcy, and at a glance, I'd never believe my son could have anything wrong with him.
I know the rush for more blood work and appointments is coming, but for today, I'm going to read a few more stories to my kids, watch the big ones play in the snow, and snuggle them each a little longer.
Sure, it's easier to be patient when you are waiting for news you're not so sure of but even if I knew these results were an unexpected gift, I'd still be OK with waiting today. And I know whenever the call does come, I am ready to tackle whatever comes our way, even if it is more waiting.
I had won the kids' lottery! Quickly, I rifled through all the boxes and bags in the back of my parents' closet, searching for the treasures that would soon be mine. With stealth I stalked new arrivals to the closet and cataloged the contents in my head.
That year, Christmas morning wasn't quite the same. I knew needed to act excited when I revealed what I had been anxiously awaiting, but with the surprise missing, the magic of the morning just wasn't the same.
From then on, I learned that sometimes waiting was better than the instant "now" gratification.
Which brings us to today. Today begins another day of waiting. Unfortunately it is not for Christmas morning.
Today could be the day, a fork in the road we are on, or it might not. You see we are expecting a phone call at any point now that could alter our course as a family even more than it's already been altered.
About a month ago Cole underwent genetic testing for NEMOS disease, which is a primary immunodeficiency. This is not the first test Cole has had by a long shot, yet with the stakes seem to be higher with every test that is ordered. After all, initially we were under the impression that he just had allergies. Now, I'd give just about anything for that to be the case.
On Friday the phone rang, and the hospital's number popped up on our caller id. My stomach dropped and I swore my heart was going to jump out of my chest as the moment of truth had arrived.
In the end, it was another specialist with just a question for me about Cole. I caught my breath while my pulse slowed back to normal and wondered if I was really ready for the phone call to come.
Now, a few days later here we are, still waiting.
While we wait, our days go on as usual, filled with work and school schedules, books and play, homework, cooking and cleaning, meals and baths. The busy music composed by the kids drowns out the questions resonating in the back of my mind that bubble to the surface when the house is quiet. All the what ifs. What if he really has NEMOS? What if he doesn't? Then what? What else could it be? When will we know? What will we be able to do?
As crazy as this sounds, as much as I want the answers to these questions as soon as possible, I'm OK with waiting just for today. While we are stuck in the holding pattern, our days are not punctuated by appointments and blood work, just our home routine with a few prescriptions sprinkled throughout the day reminding us of Cole's continuous challenge.
While I'm frustrated that we can't move on, there is nothing else I can do while I wait but enjoy the good moments with all the kids. After all, it's been nice to have had a few weeks where Cole has not been poked or prodded but is babbling and bouncing. I cherish these days of normalcy, and at a glance, I'd never believe my son could have anything wrong with him.
I know the rush for more blood work and appointments is coming, but for today, I'm going to read a few more stories to my kids, watch the big ones play in the snow, and snuggle them each a little longer.
Sure, it's easier to be patient when you are waiting for news you're not so sure of but even if I knew these results were an unexpected gift, I'd still be OK with waiting today. And I know whenever the call does come, I am ready to tackle whatever comes our way, even if it is more waiting.
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