Sometimes you don't realize how long you've been holding your breath until you finally let it out.
Just as I was getting the two little ones settled in for lunch the phone rang.
Finally, the phone call we had been waiting for. Cole's genetic test results had arrived. The chromosomes analyzed were absolutely perfect, not a single mutation was found in his sequencing, which meant he does not have NEMOS.
Now a day later, I still can't find the words to fully express the relief I felt in this moment.
I remember closing my eyes and exhaling deeply, letting go of the worry for the time being.
Until tomorrow we will relax, falling into the comfort of this sigh for a just a moment before the marathon begins and I am holding my breath again.
Showing posts with label NEMOS. Show all posts
Showing posts with label NEMOS. Show all posts
Thursday, February 9, 2012
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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