Another cool YouTube find! This one is really great. I don't know who the author is but he sure sounds like an expert to me. I love this stuff even though it reminds me what Grace or Meghan may face as they age. We'll see...
Click on the movie twice to watch it. If you are on dial-up Internet, you probably won't be able to watch this.
Wednesday, May 30, 2007
Tuesday, May 29, 2007
Honored
On a lark, I decided to submit my post about Meghan's birthday to Grand Rounds, which is a weekly blog carnival of the best and brightest medical blog entries.
Today, I was surprised to see that my post was selected as one of the Editor's Picks. Cool!
I'm so excited and honored to have been selected. What makes this even better is that I'm helping to educate many individuals in the medical community about preeclampsia and prematurity.
Here is the latest edition of Grand Rounds:
http://frommedskool.com/2007/05/29/memorial-day-grand-rounds/
Today, I was surprised to see that my post was selected as one of the Editor's Picks. Cool!
I'm so excited and honored to have been selected. What makes this even better is that I'm helping to educate many individuals in the medical community about preeclampsia and prematurity.
Here is the latest edition of Grand Rounds:
http://frommedskool.com/2007/05/29/memorial-day-grand-rounds/
Monday, May 28, 2007
Neohero is back
My day has been made at 10:20pm today.
My favorite medical blogger has reentered the blogosphere:
http://neonataldoc.blogspot.com
WOOHOO!
My favorite medical blogger has reentered the blogosphere:
http://neonataldoc.blogspot.com
WOOHOO!
Deflated
In memory of my Great Uncle Alex, who went to Heaven today...
Lately, I find myself in over my head with working more than full time, being a wife, being a mommy, and volunteering for those causes near and dear to my heart.
I enjoy being a professional instructional designer. I like what that persona brings to my life. Investigating a new product my company offers, determining how our clients may use the product, and creating adult education/training materials can be fun. I know it may not sound fun, but I really enjoy analyzing something, and breaking it down into meaningful pieces of information. It sort of gives me purpose. It provides a modicum of control over part of my life; however, my company’s changing culture has inhibited my like for my job lately.
I know that the grass isn’t always greener, and well, these are changing times in the world of business. I can see the changes already. Some of the roles within my company are now being shifted to offshore resources where the price of labor is cheaper. It worries me to see the changes. Will I have a job in the near future? I do see some positives though. It has broadened my horizons in that I have opportunities to virtually “meet” coworkers in India and Pakistan. While we do not have a language barrier, there certainly is a cultural barrier that has to be broken, and that doesn’t even begin to cover the time zone issue.
In any case, my job routinely takes me away from home and volunteering 45-60 hours per week. I know that may not seem like much to others in different professions, but may I ask if you sit in front of a computer all work day long for 45-60 hours a week? I often feel like a caged animal in between the three walls of my gray cube, where I hear every cough, sneeze, sigh, frustration shared, and other chatter. It robs my senses of the ability filter out unnecessary information. I feel like the hair on the back of my neck is always standing at attention and waiting for the next strike.
Since the demands of everyone’s jobs are taking an increasing toll on my coworkers, a self-preservation atmosphere is emerging. It is hard to see my coworkers being so unpleasant at times. Being on the receiving end of this ill will is deflating my like for my job. I only hope I can rise above it and develop a thicker skin. My professional feelings were stabbed in the heart last week, and if this keeps happening, I may need to take myself out of a toxic work arrangement. Tears brimmed in my eyes, and I had to find a shady spot to calm myself. I’ll give it time though.
I was hoping a weekend away with my family would provide some perspective, but alas, it was just a brief reprieve. Watching the waves gently roll across the lake had a lulling effect, but not a numbing effect. Occasionally, I’d hear the girls fighting over a toy or screaming with joy upon finding yet another interesting rock on the beach. I kept wondering what happened to me. Why don’t I find joy in the simple things anymore? Who will care that I worked so much when I’m on my death bed? I certainly won’t.
After attending Antonio’s funeral recently, it reminded me to value the time I have, and I’m really trying to do that.
************************************************
Veterans dressed in uniforms literally paraded past us. Marching bands thump, thump, thumped their way down the street. Kesa’s band marched past us in cadence. She refused to provide indication that she did, indeed, see us perched on the curb. Grace and Meghan proudly collected candy as it was thrown their direction, and they both waved their flags with the exuberance of first time attendees of a parade.
As the last police car closed out the parade, we walked back to our minivan, and decided to eat some lunch before heading home to southeast Wisconsin. As we slowly left a large parking lot at the park, we were none the wiser as to what had just happened. Hunger was taking its hold on our stomachs, and Applebee’s beckoned us, so we pulled into the parking lot there.
As I walked around the back of our minivan with Grace on my left and Meghan on my right, I heard a hissing sound. Puzzled, I looked up to see my husband’s index finger extended out toward the back left tire of the van. The head of what appeared to be a roofing nail was strategically placed into the side wall of the tire. Air was screaming out around the nail. A few choice words ran through my thoughts, and I could tell by the look on Charlie’s face that he had similar ones. I suddenly realized that this was done on purpose, and my faith in the basic goodness of humanity was deflated just like that tire.
We tote our children, our precious cargo, around in that minivan.
A couple of hours later, we had a new tire, and some lunch.
I only hope that karma does exist. Grrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrr!
Lately, I find myself in over my head with working more than full time, being a wife, being a mommy, and volunteering for those causes near and dear to my heart.
I enjoy being a professional instructional designer. I like what that persona brings to my life. Investigating a new product my company offers, determining how our clients may use the product, and creating adult education/training materials can be fun. I know it may not sound fun, but I really enjoy analyzing something, and breaking it down into meaningful pieces of information. It sort of gives me purpose. It provides a modicum of control over part of my life; however, my company’s changing culture has inhibited my like for my job lately.
I know that the grass isn’t always greener, and well, these are changing times in the world of business. I can see the changes already. Some of the roles within my company are now being shifted to offshore resources where the price of labor is cheaper. It worries me to see the changes. Will I have a job in the near future? I do see some positives though. It has broadened my horizons in that I have opportunities to virtually “meet” coworkers in India and Pakistan. While we do not have a language barrier, there certainly is a cultural barrier that has to be broken, and that doesn’t even begin to cover the time zone issue.
In any case, my job routinely takes me away from home and volunteering 45-60 hours per week. I know that may not seem like much to others in different professions, but may I ask if you sit in front of a computer all work day long for 45-60 hours a week? I often feel like a caged animal in between the three walls of my gray cube, where I hear every cough, sneeze, sigh, frustration shared, and other chatter. It robs my senses of the ability filter out unnecessary information. I feel like the hair on the back of my neck is always standing at attention and waiting for the next strike.
Since the demands of everyone’s jobs are taking an increasing toll on my coworkers, a self-preservation atmosphere is emerging. It is hard to see my coworkers being so unpleasant at times. Being on the receiving end of this ill will is deflating my like for my job. I only hope I can rise above it and develop a thicker skin. My professional feelings were stabbed in the heart last week, and if this keeps happening, I may need to take myself out of a toxic work arrangement. Tears brimmed in my eyes, and I had to find a shady spot to calm myself. I’ll give it time though.
I was hoping a weekend away with my family would provide some perspective, but alas, it was just a brief reprieve. Watching the waves gently roll across the lake had a lulling effect, but not a numbing effect. Occasionally, I’d hear the girls fighting over a toy or screaming with joy upon finding yet another interesting rock on the beach. I kept wondering what happened to me. Why don’t I find joy in the simple things anymore? Who will care that I worked so much when I’m on my death bed? I certainly won’t.
After attending Antonio’s funeral recently, it reminded me to value the time I have, and I’m really trying to do that.
************************************************
Veterans dressed in uniforms literally paraded past us. Marching bands thump, thump, thumped their way down the street. Kesa’s band marched past us in cadence. She refused to provide indication that she did, indeed, see us perched on the curb. Grace and Meghan proudly collected candy as it was thrown their direction, and they both waved their flags with the exuberance of first time attendees of a parade.
As the last police car closed out the parade, we walked back to our minivan, and decided to eat some lunch before heading home to southeast Wisconsin. As we slowly left a large parking lot at the park, we were none the wiser as to what had just happened. Hunger was taking its hold on our stomachs, and Applebee’s beckoned us, so we pulled into the parking lot there.
As I walked around the back of our minivan with Grace on my left and Meghan on my right, I heard a hissing sound. Puzzled, I looked up to see my husband’s index finger extended out toward the back left tire of the van. The head of what appeared to be a roofing nail was strategically placed into the side wall of the tire. Air was screaming out around the nail. A few choice words ran through my thoughts, and I could tell by the look on Charlie’s face that he had similar ones. I suddenly realized that this was done on purpose, and my faith in the basic goodness of humanity was deflated just like that tire.
We tote our children, our precious cargo, around in that minivan.
A couple of hours later, we had a new tire, and some lunch.
I only hope that karma does exist. Grrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrr!
Thursday, May 24, 2007
Out of the Blue
It was a typical day.
In usual fashion, Meghan had woken up earlier than expected. Gracie was still buried under her blankets refusing to leave the warmth of her bed. Meghan woke up happy. She seemed pleased to start her day. "Mornin' mama."
To put it mildly, I'm not a morning person. I don't deal well with my girls in the morning. I have to consciously think about treating them kindly and displaying patience. I have to resist the urge to be my true self. You may not know that me, but I do. She is horrible to be around.
What I really want is to be left the hell alone. When I wake up, it takes a while for my senses to re-engage. Lights are too bright, sounds are shockingly sharp to my ears, and work clothes against my skin distract me. I can't filter my experiences well, and when the whining begins, it is all I can do to not run screaming out of the house.
The morning was sliding downhill as fast as a California mud slide. I had dragged my lazy butt out of bed late, and well, as a result, the whole schedule was off. My bad attitude seemed to be predestined.
We were already 15 minutes behind schedule.
The girls were perched in their child sized chairs. Elmo was singing (in my ear) on the television. The hair brush in my hand streamed through Grace's blond locks until I'd hit another snag. "Ow! That hurts." As I moved around the front of her, Grace said, "Mommy, why do you have a bruise on your arm?"
"I had a blood test yesterday, Grace."
"Why?"
"I have a doctor's appointment today. I had a blood test to see if I'm okay...like when you have tests to check your liver, Grace."
Out of the blue, there it was again: Alpha-1.
"It is not fair!"
"What isn't fair?"
"I don't want tests. The other kids don't have tests," she said emphatically.
"Grace, are you mad you have tests because you are an Alpha?"
"Uh huh. It's not fair."
I swallowed hard, and took a breath. Meghan cocked her head slightly, and seemed to wait for my response. Grace pouted and folded her arms with a hrumpf. My mind searched its recesses. I was foggy, and hadn't quite woken up yet. What could I say? What would help her? What could help her? Damn it, she has a life threatening genetic disorder. Somehow, somewhere I'd have to come up with something to show her she wasn't that different from her friends.
"Grace, you know that we have to watch your liver with tests. Did you know that Grandpa Sandy's pancreas doesn't work good either? He has to have tests too. There are lots of people who have parts of their body that don't work well. My blood goes too fast in my body. Your liver doesn't work quite right, but lots of people aren't perfect honey. Test help doctors to make sure we stay healthy."
"Oh," she said blankly. "Ouch Mommy! You are pulling my hair."
"Do you understand what I told you Grace?"
"Uh huh, but I hate tests. It's not fair!"
This is getting harder and harder to explain to Grace. I feel ill-prepared, and my guilt overwhelms me at times about her Alpha-1. Anyone want to mentor an Alpha-1 mommy through stuff like this? I feel like I'm flying in the dark with this. I'd better get my head on straight about this soon, or she'll pick up on my internal worry.
Today, I loathe Alpha-1.
In usual fashion, Meghan had woken up earlier than expected. Gracie was still buried under her blankets refusing to leave the warmth of her bed. Meghan woke up happy. She seemed pleased to start her day. "Mornin' mama."
To put it mildly, I'm not a morning person. I don't deal well with my girls in the morning. I have to consciously think about treating them kindly and displaying patience. I have to resist the urge to be my true self. You may not know that me, but I do. She is horrible to be around.
What I really want is to be left the hell alone. When I wake up, it takes a while for my senses to re-engage. Lights are too bright, sounds are shockingly sharp to my ears, and work clothes against my skin distract me. I can't filter my experiences well, and when the whining begins, it is all I can do to not run screaming out of the house.
The morning was sliding downhill as fast as a California mud slide. I had dragged my lazy butt out of bed late, and well, as a result, the whole schedule was off. My bad attitude seemed to be predestined.
We were already 15 minutes behind schedule.
The girls were perched in their child sized chairs. Elmo was singing (in my ear) on the television. The hair brush in my hand streamed through Grace's blond locks until I'd hit another snag. "Ow! That hurts." As I moved around the front of her, Grace said, "Mommy, why do you have a bruise on your arm?"
"I had a blood test yesterday, Grace."
"Why?"
"I have a doctor's appointment today. I had a blood test to see if I'm okay...like when you have tests to check your liver, Grace."
Out of the blue, there it was again: Alpha-1.
"It is not fair!"
"What isn't fair?"
"I don't want tests. The other kids don't have tests," she said emphatically.
"Grace, are you mad you have tests because you are an Alpha?"
"Uh huh. It's not fair."
I swallowed hard, and took a breath. Meghan cocked her head slightly, and seemed to wait for my response. Grace pouted and folded her arms with a hrumpf. My mind searched its recesses. I was foggy, and hadn't quite woken up yet. What could I say? What would help her? What could help her? Damn it, she has a life threatening genetic disorder. Somehow, somewhere I'd have to come up with something to show her she wasn't that different from her friends.
"Grace, you know that we have to watch your liver with tests. Did you know that Grandpa Sandy's pancreas doesn't work good either? He has to have tests too. There are lots of people who have parts of their body that don't work well. My blood goes too fast in my body. Your liver doesn't work quite right, but lots of people aren't perfect honey. Test help doctors to make sure we stay healthy."
"Oh," she said blankly. "Ouch Mommy! You are pulling my hair."
"Do you understand what I told you Grace?"
"Uh huh, but I hate tests. It's not fair!"
This is getting harder and harder to explain to Grace. I feel ill-prepared, and my guilt overwhelms me at times about her Alpha-1. Anyone want to mentor an Alpha-1 mommy through stuff like this? I feel like I'm flying in the dark with this. I'd better get my head on straight about this soon, or she'll pick up on my internal worry.
Today, I loathe Alpha-1.
Monday, May 21, 2007
Pediatric Grand Rounds
Pediatric Grand Rounds is up again at Amy Chopine's blog. I have an entry, but I really urge you all to take a look at this wonderful compilation of what pediatric medical bloggers are talking about on the web.
Enjoy the reading!
Enjoy the reading!
Monday, May 14, 2007
I'll Never Forget
I took a deep breath as I walked to the building. I knew that this wouldn't be easy. I knew what today meant. I knew it would hurt me to my core. My sandals clapped against the sidewalk as I approached the building. A subtle queasiness kicked up inside of me.
A white paned door greeted me. I grabbed the brass handle and pulled. As the door swung open toward me, the force of some suction made me lean back to regain my balance. Going into the building seemed to take my breath away so I inhaled deeply again.
A young girl, maybe 6 or 7, skipped across my path on the sprawling green carpet in the entry way. Her silky brown hair bounced on her shoulders with each step. I smiled at her and momentarily forgot my purpose for the day.
As I scanned the room, I found another area where poster boards covered in pictures decorated the room's horizon. Upon entering the room, I took another deep breath. I didn't know what I should do next so I headed for the pictures. I knew I had to see the pictures. A lump welled up in my throat, and tears began to brim in my eyes.
Then, I saw those familiar chocolate eyes, Antonio's eyes. He had flashed them to me on the day we met. He was happily devouring some treats, and his mom, Sheri, proudly pointed to him dressed up in his Halloween costume. His siblings were gathered around him, guiding him. Sheri said, "Isn't he handsome?" I nodded in agreement, and then I pointed to him to show my daughter, Grace, that we were finally getting to meet Sweet Antonio. Sheri's bon bon.
I panned the first poster board, and saw love emanating from each image. Ricardo, Sheri, and their older children encircled Antonio in many of the images. I smiled through the tears and panic I was experiencing on the inside.
While browsing the memories captured in the photos, I could hear laughter and talking on a video tape playing on a screen in the background. For some reason, I couldn't bring myself to watch though.
The service would be starting soon so I figured I should find some of the other Liver moms who said they'd be there too. Along the back wall of the chapel, there was a brown organ in the corner. I headed for that spot since all of the pews were filled already. Luckily, I found Kristen, Havalah's mom, there too. She pointed to Sheri in the front row, and said, "If you want to talk to her, now is a good time." As I approached Sheri, she was embracing a woman I didn't know. The embrace lasted a few minutes. I smiled at Sheri. From my perspective, it seemed Sheri needed the embrace. She needed human touch. She needed the soothing from that hug.
Sheri's arms crossed over my shoulders. I could feel her trembling, and I'm sure I was too. She hugged me tightly, and whispered, "Can you do something for me please?"
"Yes, anything," I replied.
"Get me the pictures of Antonio from Halloween," she said while exhaling.
"Will do Sheri. Anything honey. I'll never forget him...ever. Please know that." I didn't know what to say, but she seemed content with my response. Then, she sat down in the pew next to her daughter, Aurora, and took careful time to introduce me to her husband and children. They are a beautiful family, but their expressions said it all...pure pain. I wanted so much to make their terrible nightmare go away, but like most helpless bystanders, there was little I could do except get those pictures for Sheri.
"Ricardo, Jen has two girls, Grace and Meghan, who have Alpha-1," came from Sheri. It took my breath away that she was able to recall the details in such a time of shock and stress. Sheri is simply amazing.
I approached the front of the chapel. Antonio peacefully graced his tiny white coffin. I nervously smiled at him and all of his stuffed animal frogs. I will remember him in life though. His exhuberance. His inquisitiveness. His love for his mommy. His beautiful brown eyes. His beautiful 3 year old self.
The service began shortly after.
Tears would periodically well up in my eyes. As a liver mom, I wanted to be there, but being there brought out my worst fears for my daughters. Antonio was only 6 days older than Meghan. I quickly pushed the thoughts out of my mind as I would probably lose it if I let them come completely to fruition.
Haunting music played. Sheri trembled as the lyrics clearly had meaning to her. I had to find a spot on the wall to stare at so I could stuff down the urge to wail along with her. After all, another member of our liver family was gone. Antonio joined Hunter, Jayli, Gracie, Jackson Riley, Dillon, and all the liver angels. Heaven has another angel, and well, we all want him back.
For the rest of that day, and periodically since then, I have to take deep breaths. I hope that Sheri and her family are taking slow deep breaths to breathe their way through what may be a lifetime of breath after breath to get through. I can only imagine.
Antonio, I will never forget you little man. May you rest in peace.
A white paned door greeted me. I grabbed the brass handle and pulled. As the door swung open toward me, the force of some suction made me lean back to regain my balance. Going into the building seemed to take my breath away so I inhaled deeply again.
A young girl, maybe 6 or 7, skipped across my path on the sprawling green carpet in the entry way. Her silky brown hair bounced on her shoulders with each step. I smiled at her and momentarily forgot my purpose for the day.
As I scanned the room, I found another area where poster boards covered in pictures decorated the room's horizon. Upon entering the room, I took another deep breath. I didn't know what I should do next so I headed for the pictures. I knew I had to see the pictures. A lump welled up in my throat, and tears began to brim in my eyes.
Then, I saw those familiar chocolate eyes, Antonio's eyes. He had flashed them to me on the day we met. He was happily devouring some treats, and his mom, Sheri, proudly pointed to him dressed up in his Halloween costume. His siblings were gathered around him, guiding him. Sheri said, "Isn't he handsome?" I nodded in agreement, and then I pointed to him to show my daughter, Grace, that we were finally getting to meet Sweet Antonio. Sheri's bon bon.
I panned the first poster board, and saw love emanating from each image. Ricardo, Sheri, and their older children encircled Antonio in many of the images. I smiled through the tears and panic I was experiencing on the inside.
While browsing the memories captured in the photos, I could hear laughter and talking on a video tape playing on a screen in the background. For some reason, I couldn't bring myself to watch though.
The service would be starting soon so I figured I should find some of the other Liver moms who said they'd be there too. Along the back wall of the chapel, there was a brown organ in the corner. I headed for that spot since all of the pews were filled already. Luckily, I found Kristen, Havalah's mom, there too. She pointed to Sheri in the front row, and said, "If you want to talk to her, now is a good time." As I approached Sheri, she was embracing a woman I didn't know. The embrace lasted a few minutes. I smiled at Sheri. From my perspective, it seemed Sheri needed the embrace. She needed human touch. She needed the soothing from that hug.
Sheri's arms crossed over my shoulders. I could feel her trembling, and I'm sure I was too. She hugged me tightly, and whispered, "Can you do something for me please?"
"Yes, anything," I replied.
"Get me the pictures of Antonio from Halloween," she said while exhaling.
"Will do Sheri. Anything honey. I'll never forget him...ever. Please know that." I didn't know what to say, but she seemed content with my response. Then, she sat down in the pew next to her daughter, Aurora, and took careful time to introduce me to her husband and children. They are a beautiful family, but their expressions said it all...pure pain. I wanted so much to make their terrible nightmare go away, but like most helpless bystanders, there was little I could do except get those pictures for Sheri.
"Ricardo, Jen has two girls, Grace and Meghan, who have Alpha-1," came from Sheri. It took my breath away that she was able to recall the details in such a time of shock and stress. Sheri is simply amazing.
I approached the front of the chapel. Antonio peacefully graced his tiny white coffin. I nervously smiled at him and all of his stuffed animal frogs. I will remember him in life though. His exhuberance. His inquisitiveness. His love for his mommy. His beautiful brown eyes. His beautiful 3 year old self.
The service began shortly after.
Tears would periodically well up in my eyes. As a liver mom, I wanted to be there, but being there brought out my worst fears for my daughters. Antonio was only 6 days older than Meghan. I quickly pushed the thoughts out of my mind as I would probably lose it if I let them come completely to fruition.
Haunting music played. Sheri trembled as the lyrics clearly had meaning to her. I had to find a spot on the wall to stare at so I could stuff down the urge to wail along with her. After all, another member of our liver family was gone. Antonio joined Hunter, Jayli, Gracie, Jackson Riley, Dillon, and all the liver angels. Heaven has another angel, and well, we all want him back.
For the rest of that day, and periodically since then, I have to take deep breaths. I hope that Sheri and her family are taking slow deep breaths to breathe their way through what may be a lifetime of breath after breath to get through. I can only imagine.
Antonio, I will never forget you little man. May you rest in peace.
Wednesday, May 09, 2007
Happy 5th NICU Graduation Day Grace!
Yes, it was five short years ago that Gracie was discharged from the NICU. She had been there for 23 days. I remember being so relieved to bring her home with us, but then those normal "can I really do this?" fears crept into my mind. I was quietly freaking out on the inside.
Our former kitty, Eeyore, and current kitty, Winnie, greeted her at the front door. It was a super windy day, and we quickly took her in the house. After all, Gracie had been in the overprotective environment of the NICU, and now, she was out in the world. I was pretty naive then, but I suppose that was to be expected.
Weighing in at 4 pounds, 2 ounces on discharge day, she seemed so fragile and at that time was the tiniest baby I'd see up close. (Meghan subsequently changed my opinion of tiny.) As most newborns do, Grace slept most of her way through the first day at home and then promptly woke us up three times that night. I couldn't sleep anyway. She was one noisey little sleeper with her grunts, squeaks, and stretch noises, but I couldn't help but listen to her. It was all so sureal.
Ah memories...
Happy 5th anniversary of your NICU graduation Gracie! We're so proud of all you have achieved since then.
Love,
Mom
Our former kitty, Eeyore, and current kitty, Winnie, greeted her at the front door. It was a super windy day, and we quickly took her in the house. After all, Gracie had been in the overprotective environment of the NICU, and now, she was out in the world. I was pretty naive then, but I suppose that was to be expected.
Weighing in at 4 pounds, 2 ounces on discharge day, she seemed so fragile and at that time was the tiniest baby I'd see up close. (Meghan subsequently changed my opinion of tiny.) As most newborns do, Grace slept most of her way through the first day at home and then promptly woke us up three times that night. I couldn't sleep anyway. She was one noisey little sleeper with her grunts, squeaks, and stretch noises, but I couldn't help but listen to her. It was all so sureal.
Ah memories...
Happy 5th anniversary of your NICU graduation Gracie! We're so proud of all you have achieved since then.
Love,
Mom
Monday, May 07, 2007
Rest In Peace Antonio
I'm so sad to report that our liver friend, Sweet Antonio, went to Heaven this morning due to complications of his liver transplant 6 months ago. Please keep his family in your thoughts during this extremely difficult time.
http://www.caringbridge.org/visit/antonioperez
April 27, 2004 to May 7, 2007
http://www.caringbridge.org/visit/antonioperez
April 27, 2004 to May 7, 2007
Pediatric Grand Rounds
Another fabulous edition of Pediatric Grand Rounds is up on my favorite blog, The Wait and the Wonder:
http://thewaitandwonder.clubmom.com/thewaitandwonder/2007/05/pediatric_grand.html
I submitted my post entitled Yet Another Birthday Girl. This is my 2nd submission to be included. Yay!
The next Pediatric Grand Rounds will be hosted on Ami Chopine's blog on May 20th.
Enjoy the reading.
http://thewaitandwonder.clubmom.com/thewaitandwonder/2007/05/pediatric_grand.html
I submitted my post entitled Yet Another Birthday Girl. This is my 2nd submission to be included. Yay!
The next Pediatric Grand Rounds will be hosted on Ami Chopine's blog on May 20th.
Enjoy the reading.
Thursday, May 03, 2007
Yet Another Birthday Girl
Three years ago today, I was in labor and delivery at the hospital. Severe preeclampsia had taken its deep hold on me and my baby. Slow drips of magnesium sulfate flowed through my I.V. into a vein in my hand. As a result, I felt unbelievably hot. I kept asking my husband, Charlie, to turn down the heat in my L&D room. I finally giggled to myself as I suddenly realized that he had his coat on. That giggle quickly faded, and I was annoyed with the next thing to "insult" my senses.
My tongue was coated with a thick goo, and my eyes were so dry that my eye lids stuck to the whites of my eyes as I would blink. My lips were cracked and bleeding, as well. I could not get enough ice chips, and it seemed like the ice chips were being rationed to me in dredgingly slow installments. I begged for more any chance I could get. After all, who decided they had a corner on the market of frickin ice chips? C'mon!
A pulse oximeter made my left index finger glow orange, and it seemed clumsily placed and excessively heavy. It was a sunny spring day except that the blinds in my room were closed tightly. I couldn't stand the light...not even the slightest twinge of light. If I recall correctly, Charlie found anything he could to block the light from my eyes. In fact, he had actually placed towels and those "lovely" mesh underwear (about which most women who've had a child recognize) in the spaces where the light was seeping through the blinds.
On the wall directly across from my bed was something that glowed bright red...a dot of some kind. I remember wondering what it was, but it seemed to burn my eyes when I peered at it so I chose to look away from it. Any light seemed to hurt me, not in a painful way, but in a way that sent electrical currents through the my body.
Because my respirations had been depressed by the magnesium sulfate, I wore a nasal cannula across my top lip to keep up my oxygen saturation. Two prongs of clear plastic tubing popped in and out of my nose as I shifted around, waiting in my bed for some word of what would happen next after 9 days of complete bedrest in the hospital. The cannula was driving me crazy, and the scent from the oxygen being administered to me was sickeningly sweet. It was yet another assault on my senses.
One good thing had happened though. Magnesium sulfate had reminded my kidneys how to function. The unfortunate part was that I was confined to bed because my blood pressure was shockingly high. This meant I could either have a catheter or I could use a bed pan. Guess which one I chose?
If you know me well, you'd know that I think catheters are an evil invention. In me, they produce searing "red hot poker" pain in a place that is indescribable. So, my nurse agreed to produce said bed pan upon my request. In about 20 minute intervals, an urge appeared. So, I'd shimy on and off of the bed pan. All because I didn't want that catheter. Did I tell you this was the good part? Hey, it was a pee-pee celebration when my kidneys kicked back in. Everybody was happy. :) It was like I was 2 again.
At this point, it was determined that I needed to have another ultrasound and biophysical profile (BPP) of the baby. So, I was wheeled into the Perinatal Center still in my bed. A pillow and blanket were strategically placed over my eyes to shield me from the light. I felt like Gizmo from the Gremlins movie. "Bright light! Bright light! I'm melting! I'm melting!" How do you like that mixed movie metaphor? :)
Charlie and I were in a small space where there was a monitor on the wall near the ceiling. Oozing gell was dripping on my stomach as the technician rolled the ultrasound wand around. Measurements were taken. Levels of amniotic fluid were checked. Pee was making my bladder feel like exploding. I could neither concentrate nor see anymore. The magnesium sulfate had produced large black blobs of blindness throughout most of my field of vision. Charlie seemed excited to see the baby and was mentioning things he could see. "Oh, there is the heart beating, and the spine..."
All in all, the results were bad. The baby had not grown at all in one week. The baby was estimated to weigh 1 pound, 11 ounces. This meant I needed to deliver the baby. My body was no longer providing a hospitable place to grow a baby. Overall, it was shutting down in any way it could. Baby and me were going to be separated today. You might be shocked to hear that I was relieved. I couldn't wait to start the preeclampsia healing process. I was tired, swollen, hot, dry, and mostly temporarily insane. Preeclampia challenges your sanity, and for awhile, it won.
As late afternoon approached, I noticed that my Braxton-Hicks contractions were suddenly happening a lot more and with some intensity. My belly would become hard as a brick and that urge to use the bed pan was strong. It was strange that I had no control over this muscular response inside me. In fact, it annoyed me, but I was so focused on everything else that was insulting my senses, that it never occured to me what was really going on. I was just waiting for my doctor to arrive so he could perform my c-section.
That was until...
I had a big contraction. My involuntary response to that pain was to clutch my stomach and moan. After the pain faded, I immediately said to Charlie, "Something is wrong. Something is wrong! I need help. We need help." I began to feel a squishy sensation between my legs. "Is that blood? Crap!" I was only 27 weeks along in my pregnancy. How could it be that I was going into labor? Or, is my placenta abrupting? No, it can't be. Those were just Braxton-Hicks contractions. You know the fake kind. Not the kind that make a baby be born. No way! No how!" All of this insanity was flooding my thought, but I knew I'd have a c-section again. There was no way I would go into labor with this baby. It was simply too risky to go through labor with a 27 week baby.
A team of professionals suddenly emerged in the room. Charlie had gotten help. Unfortunately for me, they had to turn the lights on. It was as if I was staring into an eclipse. The light seared into my retinas. Then the pain returned. It was another contraction. Dr. Schultz (who had delivered my oldest daughter, Grace) decided to see what was happening. It appeared I had bloody show and was 3 centimeters dialated.
"What? How could that happen?"
Dr. Schultz said, "One way or another, you were going to have this baby today Jennifer. We'll still take you into the OR. Your baby is stable, but we have to wait until the OR becomes available. Dr. Carlson wants to do your c-section. He'll be here soon. Hang in there." At that point, she left.
In the meantime, a neonatologist appeared next to my bed. He was sent to give me information about a baby being born at 27 weeks gestation. I remember studying him through my mag-vision. He had bright white hair, and a wide, round face. His light blue scrubs were on. He muttered some details about 75% chance of survival, and getting past the first 4 days, and then past the one week mark to see true survival for my precious baby. It was information that made my head spin, but those contractions kept disturbing my concentration. I hoped that Charlie would be able to process better than me. I'd ask him later.
Eventually, I found myself being transferred to a sitting position on the surgical table. Sitting wasn't that easy anymore. I hadn't sat up in many days. I felt whoozy and my head wouldn't stay upright. I bent down over the hump in my stomach and clutched my knees. A needle was inserted into my spinal fluid to numb me. I quickly laid down before I lost sensation. In what seemed like a split second, drapes appeared across my chest. My arms were stretched out on boards.
Charlie suddenly appeared next to my head in full surgical clothes. He held my left hand. It smelled like popcorn to me. It was really cauterization going on as part of my c-section.
"It's a girl!" came out from underneath Dr. Carlson's mask. I looked up and to my left side and saw the umbilical cord hanging down. It was slim but white. I didn't see the baby though. It was just a flash.
Charlie said, "It's a Meghan." All that I could hear was the silence. There was no baby shrieking. Not like Gracie had shrieked when she was born.
At this point, I began to mutter. "My baby, my baby, my baby." Tears streamed down my cheeks.
I wanted her back. It was too soon. This could not be happening. There was no crying. There was no crying. (Charlie later told me that Meghan did cry. She mewed like a tiny kitten.)
"Go see her!" I commanded Charlie. He was reluctant to do so. I couldn't see what was happening. He knew they were providing stimulation and oxygen by bagging her. He knew he'd be in the way. I didn't know though. I was suddenly completely dumb and in shock. I couldn't process.
After a few minutes, Charlie was asked to cut the rest of the umbilical cord away from Meghan's body. She was breathing. She was breathing. She was beautiful is what he said, but tiny.
Suddenly, I was jerked back into reality again. I felt like I was going to hurl. It felt like someone was standing on my stomach doing jumping jacks. It didn't hurt. It felt dull, but I was amazed that I could feel it. I started to wretch and wretch and wretch...all that came up was some ice chip residue.
My eyes darted around the room. It was really bright. Dr. Carlson told me that my placenta was stuck. It wouldn't come free which is why he was tugging on me so much. Um, more like standing on me doc!
Finally, the neonatologist appeared next to my head. Fortunately for me, he was standing on my left side. I could see just a sliver of "real vision" in my left eye. Through the slit, I could see that in his adult sized hand was my baby. My tiny, Meghan. My heart.
Her head was smaller than a tennis ball and popped out of his fist. Her eyes were slammed shut, and the skin on her forehead was wrinkled in 3 or 4 large wrinkles. She looked like one of those hairless cats, in a way. Fine blonde hair was all over her head and face, but it appeared that her the hair on her head was reddish and slightly curling. She seemed really rosey pink, almost peachy in color to me.
Meghan's tiny hand was resting between the neo's fingers, and he grasped her legs with his other hand. "Here she is Mom," came out of the neonatologist's mask. "Take a quick look and then we're off to the NICU." I touched her tiny toothpick sized fingers on one hand, and then she was gone inside his hands. She wasn't inside me any longer. It would take some getting used to.
***********************************************
Today is Meghan's third birthday. Three years have passed since that day I just described. It is amazing to me that she has come so far since her 1 pound, 9.5 ounce birth at 27 weeks. Today, we celebrate Meghan's miraculous beginning. We celebrate that after 79 days, Meghan was able to join our family in our home.
We celebrate that Meghan entered physical, speech, and occupational therapy to help her grow and thrive. We celebrate that gaining weight has always been at a snail's pace for her. We celebrate the need to buy her pediasure. We celebrate that her vocabulary has exploded. "My birthday comed up! I'm 3 today."
We celebrate her. The way she cocks her head slightly to side to emphasize her point. The way her eyes glimmer as she snatches a toy away from Gracie. Her left thumb as it is suctioned back into her narrow palet. Her drool which runs down her left arm as she sucks her thumb. Her demands to have a book read to her. Her "I hasta go potty." proclamations. Her need to lean on you. Her way of walking up stairs with no hands, but always using only one foot to get up the stairs. Her demands of one more song before bed. "Sing the Fishy song, mommy."
We celebrate our miracle and all of her flaws and strengths. We love you forever baby girl! Happy 3rd birthday Boo Boo!
My tongue was coated with a thick goo, and my eyes were so dry that my eye lids stuck to the whites of my eyes as I would blink. My lips were cracked and bleeding, as well. I could not get enough ice chips, and it seemed like the ice chips were being rationed to me in dredgingly slow installments. I begged for more any chance I could get. After all, who decided they had a corner on the market of frickin ice chips? C'mon!
A pulse oximeter made my left index finger glow orange, and it seemed clumsily placed and excessively heavy. It was a sunny spring day except that the blinds in my room were closed tightly. I couldn't stand the light...not even the slightest twinge of light. If I recall correctly, Charlie found anything he could to block the light from my eyes. In fact, he had actually placed towels and those "lovely" mesh underwear (about which most women who've had a child recognize) in the spaces where the light was seeping through the blinds.
On the wall directly across from my bed was something that glowed bright red...a dot of some kind. I remember wondering what it was, but it seemed to burn my eyes when I peered at it so I chose to look away from it. Any light seemed to hurt me, not in a painful way, but in a way that sent electrical currents through the my body.
Because my respirations had been depressed by the magnesium sulfate, I wore a nasal cannula across my top lip to keep up my oxygen saturation. Two prongs of clear plastic tubing popped in and out of my nose as I shifted around, waiting in my bed for some word of what would happen next after 9 days of complete bedrest in the hospital. The cannula was driving me crazy, and the scent from the oxygen being administered to me was sickeningly sweet. It was yet another assault on my senses.
One good thing had happened though. Magnesium sulfate had reminded my kidneys how to function. The unfortunate part was that I was confined to bed because my blood pressure was shockingly high. This meant I could either have a catheter or I could use a bed pan. Guess which one I chose?
If you know me well, you'd know that I think catheters are an evil invention. In me, they produce searing "red hot poker" pain in a place that is indescribable. So, my nurse agreed to produce said bed pan upon my request. In about 20 minute intervals, an urge appeared. So, I'd shimy on and off of the bed pan. All because I didn't want that catheter. Did I tell you this was the good part? Hey, it was a pee-pee celebration when my kidneys kicked back in. Everybody was happy. :) It was like I was 2 again.
At this point, it was determined that I needed to have another ultrasound and biophysical profile (BPP) of the baby. So, I was wheeled into the Perinatal Center still in my bed. A pillow and blanket were strategically placed over my eyes to shield me from the light. I felt like Gizmo from the Gremlins movie. "Bright light! Bright light! I'm melting! I'm melting!" How do you like that mixed movie metaphor? :)
Charlie and I were in a small space where there was a monitor on the wall near the ceiling. Oozing gell was dripping on my stomach as the technician rolled the ultrasound wand around. Measurements were taken. Levels of amniotic fluid were checked. Pee was making my bladder feel like exploding. I could neither concentrate nor see anymore. The magnesium sulfate had produced large black blobs of blindness throughout most of my field of vision. Charlie seemed excited to see the baby and was mentioning things he could see. "Oh, there is the heart beating, and the spine..."
All in all, the results were bad. The baby had not grown at all in one week. The baby was estimated to weigh 1 pound, 11 ounces. This meant I needed to deliver the baby. My body was no longer providing a hospitable place to grow a baby. Overall, it was shutting down in any way it could. Baby and me were going to be separated today. You might be shocked to hear that I was relieved. I couldn't wait to start the preeclampsia healing process. I was tired, swollen, hot, dry, and mostly temporarily insane. Preeclampia challenges your sanity, and for awhile, it won.
As late afternoon approached, I noticed that my Braxton-Hicks contractions were suddenly happening a lot more and with some intensity. My belly would become hard as a brick and that urge to use the bed pan was strong. It was strange that I had no control over this muscular response inside me. In fact, it annoyed me, but I was so focused on everything else that was insulting my senses, that it never occured to me what was really going on. I was just waiting for my doctor to arrive so he could perform my c-section.
That was until...
I had a big contraction. My involuntary response to that pain was to clutch my stomach and moan. After the pain faded, I immediately said to Charlie, "Something is wrong. Something is wrong! I need help. We need help." I began to feel a squishy sensation between my legs. "Is that blood? Crap!" I was only 27 weeks along in my pregnancy. How could it be that I was going into labor? Or, is my placenta abrupting? No, it can't be. Those were just Braxton-Hicks contractions. You know the fake kind. Not the kind that make a baby be born. No way! No how!" All of this insanity was flooding my thought, but I knew I'd have a c-section again. There was no way I would go into labor with this baby. It was simply too risky to go through labor with a 27 week baby.
A team of professionals suddenly emerged in the room. Charlie had gotten help. Unfortunately for me, they had to turn the lights on. It was as if I was staring into an eclipse. The light seared into my retinas. Then the pain returned. It was another contraction. Dr. Schultz (who had delivered my oldest daughter, Grace) decided to see what was happening. It appeared I had bloody show and was 3 centimeters dialated.
"What? How could that happen?"
Dr. Schultz said, "One way or another, you were going to have this baby today Jennifer. We'll still take you into the OR. Your baby is stable, but we have to wait until the OR becomes available. Dr. Carlson wants to do your c-section. He'll be here soon. Hang in there." At that point, she left.
In the meantime, a neonatologist appeared next to my bed. He was sent to give me information about a baby being born at 27 weeks gestation. I remember studying him through my mag-vision. He had bright white hair, and a wide, round face. His light blue scrubs were on. He muttered some details about 75% chance of survival, and getting past the first 4 days, and then past the one week mark to see true survival for my precious baby. It was information that made my head spin, but those contractions kept disturbing my concentration. I hoped that Charlie would be able to process better than me. I'd ask him later.
Eventually, I found myself being transferred to a sitting position on the surgical table. Sitting wasn't that easy anymore. I hadn't sat up in many days. I felt whoozy and my head wouldn't stay upright. I bent down over the hump in my stomach and clutched my knees. A needle was inserted into my spinal fluid to numb me. I quickly laid down before I lost sensation. In what seemed like a split second, drapes appeared across my chest. My arms were stretched out on boards.
Charlie suddenly appeared next to my head in full surgical clothes. He held my left hand. It smelled like popcorn to me. It was really cauterization going on as part of my c-section.
"It's a girl!" came out from underneath Dr. Carlson's mask. I looked up and to my left side and saw the umbilical cord hanging down. It was slim but white. I didn't see the baby though. It was just a flash.
Charlie said, "It's a Meghan." All that I could hear was the silence. There was no baby shrieking. Not like Gracie had shrieked when she was born.
At this point, I began to mutter. "My baby, my baby, my baby." Tears streamed down my cheeks.
I wanted her back. It was too soon. This could not be happening. There was no crying. There was no crying. (Charlie later told me that Meghan did cry. She mewed like a tiny kitten.)
"Go see her!" I commanded Charlie. He was reluctant to do so. I couldn't see what was happening. He knew they were providing stimulation and oxygen by bagging her. He knew he'd be in the way. I didn't know though. I was suddenly completely dumb and in shock. I couldn't process.
After a few minutes, Charlie was asked to cut the rest of the umbilical cord away from Meghan's body. She was breathing. She was breathing. She was beautiful is what he said, but tiny.
Suddenly, I was jerked back into reality again. I felt like I was going to hurl. It felt like someone was standing on my stomach doing jumping jacks. It didn't hurt. It felt dull, but I was amazed that I could feel it. I started to wretch and wretch and wretch...all that came up was some ice chip residue.
My eyes darted around the room. It was really bright. Dr. Carlson told me that my placenta was stuck. It wouldn't come free which is why he was tugging on me so much. Um, more like standing on me doc!
Finally, the neonatologist appeared next to my head. Fortunately for me, he was standing on my left side. I could see just a sliver of "real vision" in my left eye. Through the slit, I could see that in his adult sized hand was my baby. My tiny, Meghan. My heart.
Her head was smaller than a tennis ball and popped out of his fist. Her eyes were slammed shut, and the skin on her forehead was wrinkled in 3 or 4 large wrinkles. She looked like one of those hairless cats, in a way. Fine blonde hair was all over her head and face, but it appeared that her the hair on her head was reddish and slightly curling. She seemed really rosey pink, almost peachy in color to me.
Meghan's tiny hand was resting between the neo's fingers, and he grasped her legs with his other hand. "Here she is Mom," came out of the neonatologist's mask. "Take a quick look and then we're off to the NICU." I touched her tiny toothpick sized fingers on one hand, and then she was gone inside his hands. She wasn't inside me any longer. It would take some getting used to.
***********************************************
Today is Meghan's third birthday. Three years have passed since that day I just described. It is amazing to me that she has come so far since her 1 pound, 9.5 ounce birth at 27 weeks. Today, we celebrate Meghan's miraculous beginning. We celebrate that after 79 days, Meghan was able to join our family in our home.
We celebrate that Meghan entered physical, speech, and occupational therapy to help her grow and thrive. We celebrate that gaining weight has always been at a snail's pace for her. We celebrate the need to buy her pediasure. We celebrate that her vocabulary has exploded. "My birthday comed up! I'm 3 today."
We celebrate her. The way she cocks her head slightly to side to emphasize her point. The way her eyes glimmer as she snatches a toy away from Gracie. Her left thumb as it is suctioned back into her narrow palet. Her drool which runs down her left arm as she sucks her thumb. Her demands to have a book read to her. Her "I hasta go potty." proclamations. Her need to lean on you. Her way of walking up stairs with no hands, but always using only one foot to get up the stairs. Her demands of one more song before bed. "Sing the Fishy song, mommy."
We celebrate our miracle and all of her flaws and strengths. We love you forever baby girl! Happy 3rd birthday Boo Boo!
Wednesday, May 02, 2007
Alpha-1 and CLiC
I thought I'd share the article I wrote for the Alpha-1 News
A Quest for Answers
A persistent question within the Alpha-1 community is why some individuals are liver-affected, lung-affected, or both. In the last few years, Dr. Ronald Sokol, Professor of Pediatrics at the University of Colorado School of Medicine and The Children’s Hospital in Denver, led a group of investigators to form the Cholestatic Liver Disease Consortium (CLiC) in an effort to begin to understand why some Alphas develop liver disease in childhood. As the principal investigator of CLiC, Dr. Sokol’s mission is to find answers to questions.
“One of the most important questions” says Dr. Sokol “is why do some people, particularly children, develop liver problems and others don’t, yet they have the same genetic mutation in the Alpha-1 gene. Only 10-15% are recognized as having a liver problem during childhood, and it is usually during the first few months or first few years of life. Sometimes the liver problem is quite severe, requiring liver transplantation in childhood.”
CLiC is a collaborative team of doctors, scientists, nurses, research coordinators, statisticians and patient support organizations throughout the US and UK, working together to improve the lives of children affected by rare cholestatic (poor bile flow) liver diseases. Alpha-1 Antitrypsin Deficiency is one of these diseases. The purpose of CLiC is to provide a way for patients and families to partner with doctors and researchers by participating in research studies.
With the infrastructure in place to make CLiC run, a research study is now under review and hopefully approved very soon. Dr. Sokol shared, “We’re going to conduct a longitudinal study of Alpha-1, in which we will follow for 5 years up to 250 children and young adults up to the age of 25 years with Alpha-1 and liver problems. One of the major purposes of the study is to define the natural history of Alpha-1 liver disease.”
There are many questions to be answered, and Dr. Sokol explains the theory, “There must be some other factor involved, either in the Alpha-1 gene, in other genes, or an environmental factor. We hope to be able to start to address this by collecting DNA from the children and their parents to eventually look for other genes that might be inherited along with the Alpha-1 gene that would increase the susceptibility to liver disease or protect against liver disease.”
In order for this important research to go forward, there must be enough research participants to make the study effective. “We will make no progress in understanding Alpha-1 Antitrypsin Deficiency to any great extent, its effects on children, and the course of their liver disease without the participation of families. The individuals, who actually have the most to gain, are the affected families and the children. Without their participation we’d really never be able to understand this disease better or develop new therapies to give them a better outlook.”
Dr. Sokol adds, “We are trying to build the largest series of children with Alpha-1 to ever be in a single database. We will collect and store DNA and other information all linked to each other, in an ethically appropriate and confidential manner, for conducting clinical research in 2007 and beyond.”
Signing up to participate in the research conducted by CLiC is quite simple. CLiC operates a confidential contact registry, which
is available on its Web page: http://rarediseasesnetwork.org/clic. Dr. Sokol says, “For people around the country, that is the simplest way to become registered as being interested in this study. When the study is running, you will be given more information, and you can then make a choice about participation.”
When the study is approved and enrolling patients, research participants would be seen at one of the eleven CLiC clinical research centers participating in the study. “We would see the children as an outpatient once a year for five years. If the child has already undergone a liver transplant, we’d only see them one time for this study,” says Dr. Sokol. The list of participating centers appears on the CLiC Web site.
Only those individuals under the age of 25, who have SZ or ZZ phenotypes will be studied. Dr. Sokol explains, “In the study we will be collecting serum, urine, and blood (for DNA). This will help us to establish a biobank or a tissue repository that is linked to clinical information, so that investigators can ask/answer specific questions about Alpha-1 liver disease; this approach has not been taken in the past for children with Alpha-1 liver disease.”
CLiC is one of the Rare Disease Clinical Research Consortia funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the Office of Rare Diseases, and the National Center for Research Resources of the National Institutes of Health (NIH). The project scientist is Patricia Robuck, Ph.D Additional funding comes from the Alpha-1 Foundation.
A Quest for Answers
A persistent question within the Alpha-1 community is why some individuals are liver-affected, lung-affected, or both. In the last few years, Dr. Ronald Sokol, Professor of Pediatrics at the University of Colorado School of Medicine and The Children’s Hospital in Denver, led a group of investigators to form the Cholestatic Liver Disease Consortium (CLiC) in an effort to begin to understand why some Alphas develop liver disease in childhood. As the principal investigator of CLiC, Dr. Sokol’s mission is to find answers to questions.
“One of the most important questions” says Dr. Sokol “is why do some people, particularly children, develop liver problems and others don’t, yet they have the same genetic mutation in the Alpha-1 gene. Only 10-15% are recognized as having a liver problem during childhood, and it is usually during the first few months or first few years of life. Sometimes the liver problem is quite severe, requiring liver transplantation in childhood.”
CLiC is a collaborative team of doctors, scientists, nurses, research coordinators, statisticians and patient support organizations throughout the US and UK, working together to improve the lives of children affected by rare cholestatic (poor bile flow) liver diseases. Alpha-1 Antitrypsin Deficiency is one of these diseases. The purpose of CLiC is to provide a way for patients and families to partner with doctors and researchers by participating in research studies.
With the infrastructure in place to make CLiC run, a research study is now under review and hopefully approved very soon. Dr. Sokol shared, “We’re going to conduct a longitudinal study of Alpha-1, in which we will follow for 5 years up to 250 children and young adults up to the age of 25 years with Alpha-1 and liver problems. One of the major purposes of the study is to define the natural history of Alpha-1 liver disease.”
There are many questions to be answered, and Dr. Sokol explains the theory, “There must be some other factor involved, either in the Alpha-1 gene, in other genes, or an environmental factor. We hope to be able to start to address this by collecting DNA from the children and their parents to eventually look for other genes that might be inherited along with the Alpha-1 gene that would increase the susceptibility to liver disease or protect against liver disease.”
In order for this important research to go forward, there must be enough research participants to make the study effective. “We will make no progress in understanding Alpha-1 Antitrypsin Deficiency to any great extent, its effects on children, and the course of their liver disease without the participation of families. The individuals, who actually have the most to gain, are the affected families and the children. Without their participation we’d really never be able to understand this disease better or develop new therapies to give them a better outlook.”
Dr. Sokol adds, “We are trying to build the largest series of children with Alpha-1 to ever be in a single database. We will collect and store DNA and other information all linked to each other, in an ethically appropriate and confidential manner, for conducting clinical research in 2007 and beyond.”
Signing up to participate in the research conducted by CLiC is quite simple. CLiC operates a confidential contact registry, which
is available on its Web page: http://rarediseasesnetwork.org/clic. Dr. Sokol says, “For people around the country, that is the simplest way to become registered as being interested in this study. When the study is running, you will be given more information, and you can then make a choice about participation.”
When the study is approved and enrolling patients, research participants would be seen at one of the eleven CLiC clinical research centers participating in the study. “We would see the children as an outpatient once a year for five years. If the child has already undergone a liver transplant, we’d only see them one time for this study,” says Dr. Sokol. The list of participating centers appears on the CLiC Web site.
Only those individuals under the age of 25, who have SZ or ZZ phenotypes will be studied. Dr. Sokol explains, “In the study we will be collecting serum, urine, and blood (for DNA). This will help us to establish a biobank or a tissue repository that is linked to clinical information, so that investigators can ask/answer specific questions about Alpha-1 liver disease; this approach has not been taken in the past for children with Alpha-1 liver disease.”
CLiC is one of the Rare Disease Clinical Research Consortia funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the Office of Rare Diseases, and the National Center for Research Resources of the National Institutes of Health (NIH). The project scientist is Patricia Robuck, Ph.D Additional funding comes from the Alpha-1 Foundation.
Tuesday, May 01, 2007
Three Years Ago
Three years ago, I was on full bedrest in our hospital's antepartum unit. It was day 7 of bedrest, and I had just passed my initial goal of making it to May 1st. We already had 2 April birthdays in our family, and I was hoping that there wouldn't be another arrival...an arrival way too soon for my liking.
My blood pressure was still climbing and I was swelling everywhere as severe preeclampsia was deepening its hold on me. I spent most of my time in a darkened room because I had had some uncontrolled twitching where my head jerked to my left side. My doctors didn't want me to have visitors except for my husband, and I couldn't have phone calls since the ringing would set me into twitching mode.
I was resolved to stick it out as long as I could, but I'll be honest. I was secretly hoping that the doctors would say, "it's time." It didn't happen that day 3 years ago, and yes, I did know that more time in utero is better. I knew that, but this was my 2nd horrible experience with severe preeclampisa. I was slowly losing my grip on my sanity as I stayed indoors in the dark, and this was day 7. My next goal was to make it to Cinco de Mayo, the 5th of May, and it looked like I might make it.
I had noticed that my baby was moving around less and less so I took it upon myself to poke him/her as much as I could to keep up the stimulation. This was beginning to bother me and the nurses were beginning to record decels on my non-stress tests and BPPs. My amniotic fluid was dropping off, and at the end of May 1st, 2004, I noticed that my vision was suddenly changing. Straight lines appeared squiggly to me, and I thought, "Oh no, it is happening again. This is what happened when I was pregnant with Gracie 2 years ago."
Gosh I was stressed out, but calm all at the same time. It was sort of a calm before the storm of Meghan's birth on May 3rd. Hind sight is always 20 20, but I hope that I did my best to take care of Miss Meghan that day.
My blood pressure was still climbing and I was swelling everywhere as severe preeclampsia was deepening its hold on me. I spent most of my time in a darkened room because I had had some uncontrolled twitching where my head jerked to my left side. My doctors didn't want me to have visitors except for my husband, and I couldn't have phone calls since the ringing would set me into twitching mode.
I was resolved to stick it out as long as I could, but I'll be honest. I was secretly hoping that the doctors would say, "it's time." It didn't happen that day 3 years ago, and yes, I did know that more time in utero is better. I knew that, but this was my 2nd horrible experience with severe preeclampisa. I was slowly losing my grip on my sanity as I stayed indoors in the dark, and this was day 7. My next goal was to make it to Cinco de Mayo, the 5th of May, and it looked like I might make it.
I had noticed that my baby was moving around less and less so I took it upon myself to poke him/her as much as I could to keep up the stimulation. This was beginning to bother me and the nurses were beginning to record decels on my non-stress tests and BPPs. My amniotic fluid was dropping off, and at the end of May 1st, 2004, I noticed that my vision was suddenly changing. Straight lines appeared squiggly to me, and I thought, "Oh no, it is happening again. This is what happened when I was pregnant with Gracie 2 years ago."
Gosh I was stressed out, but calm all at the same time. It was sort of a calm before the storm of Meghan's birth on May 3rd. Hind sight is always 20 20, but I hope that I did my best to take care of Miss Meghan that day.
Perfect Aim
...all over themselves!
Why is it that when children acquire a stomach flu virus that they inevitably come down with it as O-dark hundred and promptly puke in their beds and all over themselves? Inquiring minds want to know. Is it murphy's law or something?
Yes, you guessed right. The power of the pukiness has returned to the B family household. Yes, we won the stomach flu dance off and have one-by-one sent our girls to the vomitorium starting with Kesa, who passed it to Meghan, who passed it to Grace, who passed it to...hopefully not me or my dear husband. I'd like to boil myself right about now. Ewww!
Thankfully, Kesa is old enough to take care of business by herself, but our 5 and 3 year olds haven't yet.
Fun times at "party bug" central!
Why is it that when children acquire a stomach flu virus that they inevitably come down with it as O-dark hundred and promptly puke in their beds and all over themselves? Inquiring minds want to know. Is it murphy's law or something?
Yes, you guessed right. The power of the pukiness has returned to the B family household. Yes, we won the stomach flu dance off and have one-by-one sent our girls to the vomitorium starting with Kesa, who passed it to Meghan, who passed it to Grace, who passed it to...hopefully not me or my dear husband. I'd like to boil myself right about now. Ewww!
Thankfully, Kesa is old enough to take care of business by herself, but our 5 and 3 year olds haven't yet.
Fun times at "party bug" central!
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