Hello Everyone:
This will be short for now b/c I am going to turn my brain completely off for the weekend and fully enjoy my family and friends.
Katarina does NOT have Cystic Fibrosis based on the sweat test results. Her values were 11 and less than 10; one result from each arm. A result above 30 would be considered borderline. Now we wait for our gastroenterology appt. on Mar 9th!!
The craziest part about this is the strong possibility of NOT getting the malabsorption problem diagnosed!!!
So I am more curious than ever if she has dwarfism...the last diagnosis currently on the table.
Stay tuned...
Blessings,
Nicole
Friday, February 26, 2010
Thursday, February 25, 2010
Blessed with 'NORMAL' results, but left with undiagnosed symptoms!
Hello Everyone:
I know many of you have been anxiously awaiting an update today. Kat is asleep for the night and resting comfortably. We were released from the hospital yesterday, only 3 hours after her surgical biopsy. There's something about being sent home so quickly that was very unsettling for this MD (AKA: Mama Dr.). So I slept for about 3hours...if you call it that and was wide awake at 2am! I researched more info as I listened closely to Kat's breathing and monitored her for potential bleeding. She did fantastic through the night only to be awakened at 5:30 to head back to the hospital for an upper GI.
If I had only known that we would not be called back for the procedure until 7:45, I would have headed to the Starbucks drive-thru that was open before 6!! Kat returned to sleep in the car and was in a great mood while we waited and waited; despite her very empty stomach! She made friends with a little girl who could have been her sister. The little girl was fair-complected and petite for her age, but had the sweetest smile!
The procedure involved having a narrow but long tube put down her nose and esophagus; followed by a syringe of barium. She was 'pinned down' a bit excessively by a less than pleasant imaging tech. The senior doc and resident got a great look at her trachea, esophagus and upper bowel. They did not identify any abnormalities!!!
Kat and I were both thrilled to have that test out of the way! We took a break with some strawberry pediasure and pringles for breakfast;-) Then, I went and begged the lab to attempt to work us in for her sweat test while we were in the building, but it wasn't 'in the cards.' So, we headed home in time to Skype in for Couples Therapy class.
Fortunately we were able to get in a nap, although it was brief. Then, I called the coordinator back who was working to get us a sooner GI appt. Again, not 'in the cards.' BUT, the biopsy results had just been entered into the computer and the surgeon called me right back.
Drum roll please.........
GANGLION CELLS PRESENT....NO HIRSCHSPRUNG DISEASE!!!! AMEN!!!!
As fantastic as our news was today, we remain without a diagnosis for Kat's malabsorption problem, miscellaneous respiratory issues, and failure to grow ;-(
So, you're probably wondering, what next??? That's the million dollar question!!
We have a sweat test at 10:30 tomorrow...our 4th drive into Houston this week. We will have sweat test results late tomorrow and then we will either push forward towards a Cystic Fibrosis diagnosis or be able to set it aside. The other results that are pending are the chromosome panel (due any time) and the gene sequencing for CHH, Cartilage Hair Hypoplasia (dwarfism).
Whether Kat has CF or CHH, we are in the 'one in a million' category with regards to a diagnosis. I think if I hear one more time, 'well, her symptoms aren't typical,' OR that would be 'highly unlikely,' I think I will explode!! Yes, I KNOW how UNlikely these would be with Down syndrome!! Really?? I trust we will eventually get there, but we might have to push for treating her symptoms; despite the absence of an official diagnosis.
We continue to feel uplifted in prayer and hope we can return home by early March!
We met another little girl on our way out of the hospital with a precious soul. She wore her bright pink boots in her reclined wheelchair and shared her beautiful smile with us. I suspect she had Cerebral Palsy (completely immobile) and was also non-verbal. Her mother spoke very little English, but I attempted my best broken Spanish and took the opportunity to meet lil Mara's soul...not her disability. I left the hospital honoring Kat's challenges...she is so very blessed with all of her capabilities!!
In closing, Kat and I shared a few minutes before she crashed for the night; which entailed her first 'Pebbles' scrunchie pony-tail on the top of her head;-) She got the biggest kick out of it when I gave her a mirror:))
More to come tomorrow!
Blessings to all,
Nicole
I know many of you have been anxiously awaiting an update today. Kat is asleep for the night and resting comfortably. We were released from the hospital yesterday, only 3 hours after her surgical biopsy. There's something about being sent home so quickly that was very unsettling for this MD (AKA: Mama Dr.). So I slept for about 3hours...if you call it that and was wide awake at 2am! I researched more info as I listened closely to Kat's breathing and monitored her for potential bleeding. She did fantastic through the night only to be awakened at 5:30 to head back to the hospital for an upper GI.
If I had only known that we would not be called back for the procedure until 7:45, I would have headed to the Starbucks drive-thru that was open before 6!! Kat returned to sleep in the car and was in a great mood while we waited and waited; despite her very empty stomach! She made friends with a little girl who could have been her sister. The little girl was fair-complected and petite for her age, but had the sweetest smile!
The procedure involved having a narrow but long tube put down her nose and esophagus; followed by a syringe of barium. She was 'pinned down' a bit excessively by a less than pleasant imaging tech. The senior doc and resident got a great look at her trachea, esophagus and upper bowel. They did not identify any abnormalities!!!
Kat and I were both thrilled to have that test out of the way! We took a break with some strawberry pediasure and pringles for breakfast;-) Then, I went and begged the lab to attempt to work us in for her sweat test while we were in the building, but it wasn't 'in the cards.' So, we headed home in time to Skype in for Couples Therapy class.
Fortunately we were able to get in a nap, although it was brief. Then, I called the coordinator back who was working to get us a sooner GI appt. Again, not 'in the cards.' BUT, the biopsy results had just been entered into the computer and the surgeon called me right back.
Drum roll please.........
GANGLION CELLS PRESENT....NO HIRSCHSPRUNG DISEASE!!!! AMEN!!!!
As fantastic as our news was today, we remain without a diagnosis for Kat's malabsorption problem, miscellaneous respiratory issues, and failure to grow ;-(
So, you're probably wondering, what next??? That's the million dollar question!!
We have a sweat test at 10:30 tomorrow...our 4th drive into Houston this week. We will have sweat test results late tomorrow and then we will either push forward towards a Cystic Fibrosis diagnosis or be able to set it aside. The other results that are pending are the chromosome panel (due any time) and the gene sequencing for CHH, Cartilage Hair Hypoplasia (dwarfism).
Whether Kat has CF or CHH, we are in the 'one in a million' category with regards to a diagnosis. I think if I hear one more time, 'well, her symptoms aren't typical,' OR that would be 'highly unlikely,' I think I will explode!! Yes, I KNOW how UNlikely these would be with Down syndrome!! Really?? I trust we will eventually get there, but we might have to push for treating her symptoms; despite the absence of an official diagnosis.
We continue to feel uplifted in prayer and hope we can return home by early March!
We met another little girl on our way out of the hospital with a precious soul. She wore her bright pink boots in her reclined wheelchair and shared her beautiful smile with us. I suspect she had Cerebral Palsy (completely immobile) and was also non-verbal. Her mother spoke very little English, but I attempted my best broken Spanish and took the opportunity to meet lil Mara's soul...not her disability. I left the hospital honoring Kat's challenges...she is so very blessed with all of her capabilities!!
In closing, Kat and I shared a few minutes before she crashed for the night; which entailed her first 'Pebbles' scrunchie pony-tail on the top of her head;-) She got the biggest kick out of it when I gave her a mirror:))
More to come tomorrow!
Blessings to all,
Nicole
Wednesday, February 24, 2010
Guardian angels abound!
Hello Everyone:
Today was filled with many blessings, but the biggest blessing happened before we ever arrived at the hospital. We were told to arrive at noon for a 2pm surgery. Unfortunately for Kat, that meant no food after midnight and no liquids after 10am. I managed to get a bottle of juice down her even though she's not a big fan. She was given the choice between gatorade and applejuice and chose the juice. At one point she worked intently on squeezing the juice out of her bottle...likely in an attempt to convince me to give her milk;-(
We headed out with a few quick errands: gas, an extra memory disc for the camera, and lunch 'to go'. YES, I felt horribly guilty that I was chowing down when she couldn't eat anything! But, I justified it b/c my next real meal probably wouldn't happen for 7 or 8 hours later. We were right on schedule for a noon arrival at the hospital, when the freeway came to a complete stop!! I didn't panic but certainly thought it couldn't be good b/c we were driving into town during a NON-peak traffic time...if there is such a thing in Houston. Well, it turns out we were behind a TEN car pile-up with a tanker truck and a full investigative scene.
http://www.click2houston.com/news/22658550/detail.html
I called the hospital and told them we were in route and prayed we would not get cancelled for surgery. Keep in mind, we had the first biopsy a month ago; which gave us NO results. So today was a long time coming! Long story longer, we managed through the re-routed traffic and arrived at 12:30. If I had been 5-10 minutes earlier in completing my errands or had skipped the stop for the memory card(which I almost did), we could have been involved in the accident. It was two exits before the exit we would have taken for the hospital on the exact route we took!! Thank you God and our special angels for protecting us and we ask that you bring peace and healing to everyone involved in the accident today!!!
Now back to the surgery. Kat's trachea appears to be normal and her ears were clear of fluid and did NOT warrant tubes. The GI surgeon conducted the rectal biopsy and all went PERFECTLY!! Kat came off the respirator just fine and was awake shortly after the procedure. She did so well that we headed out of the hospital just in time to enter 5pm traffic!!! Fortunately, no accidents on our way home...although we did witness some very close calls!
Kat is sleeping now and starts her day tomorrow with an upper GI. We hope to have biopsy results between Friday and Monday. Please pray that it is sooner rather than later!
And finally, we send thanks to the Child Life Specialist who made friends with Kat before the procedure and came to get her for surgery as she was asleep in my arms! She never woke to see who was holding her but she didn't need to b/c she was in the arms of an angel!! No tears for mom or Kat...to be continued.
Hugs and love,
Nicole
P.S. My evening ended with homemade lasagne and garlic bread prepared by Nana! YUM!
Today was filled with many blessings, but the biggest blessing happened before we ever arrived at the hospital. We were told to arrive at noon for a 2pm surgery. Unfortunately for Kat, that meant no food after midnight and no liquids after 10am. I managed to get a bottle of juice down her even though she's not a big fan. She was given the choice between gatorade and applejuice and chose the juice. At one point she worked intently on squeezing the juice out of her bottle...likely in an attempt to convince me to give her milk;-(
We headed out with a few quick errands: gas, an extra memory disc for the camera, and lunch 'to go'. YES, I felt horribly guilty that I was chowing down when she couldn't eat anything! But, I justified it b/c my next real meal probably wouldn't happen for 7 or 8 hours later. We were right on schedule for a noon arrival at the hospital, when the freeway came to a complete stop!! I didn't panic but certainly thought it couldn't be good b/c we were driving into town during a NON-peak traffic time...if there is such a thing in Houston. Well, it turns out we were behind a TEN car pile-up with a tanker truck and a full investigative scene.
http://www.click2houston.com/news/22658550/detail.html
I called the hospital and told them we were in route and prayed we would not get cancelled for surgery. Keep in mind, we had the first biopsy a month ago; which gave us NO results. So today was a long time coming! Long story longer, we managed through the re-routed traffic and arrived at 12:30. If I had been 5-10 minutes earlier in completing my errands or had skipped the stop for the memory card(which I almost did), we could have been involved in the accident. It was two exits before the exit we would have taken for the hospital on the exact route we took!! Thank you God and our special angels for protecting us and we ask that you bring peace and healing to everyone involved in the accident today!!!
Now back to the surgery. Kat's trachea appears to be normal and her ears were clear of fluid and did NOT warrant tubes. The GI surgeon conducted the rectal biopsy and all went PERFECTLY!! Kat came off the respirator just fine and was awake shortly after the procedure. She did so well that we headed out of the hospital just in time to enter 5pm traffic!!! Fortunately, no accidents on our way home...although we did witness some very close calls!
Kat is sleeping now and starts her day tomorrow with an upper GI. We hope to have biopsy results between Friday and Monday. Please pray that it is sooner rather than later!
And finally, we send thanks to the Child Life Specialist who made friends with Kat before the procedure and came to get her for surgery as she was asleep in my arms! She never woke to see who was holding her but she didn't need to b/c she was in the arms of an angel!! No tears for mom or Kat...to be continued.
Hugs and love,
Nicole
P.S. My evening ended with homemade lasagne and garlic bread prepared by Nana! YUM!
Tuesday, February 23, 2010
Differential diagnosis here we come!!!!
Hello Everyone:
Here's the latest! It turns out the rectal biopsy we had done in Lubbock was useless...not deep enough. So, Katarina may NOT have Hirschsprung disease at all! Of course we will celebrate if she doesn't, but then we are no further in understanding what is going on digestively than we were a month ago....URGGG!
Tomorrow is a big day. Katarina will have a 'full thickness' rectal biopsy under anesthesia as well as an upper respiratory evaluation to assess her trachea/airway and her ears. If the Otolaryngologist (try saying that fast three times) feels she is in need of tubes in her ears, she will go ahead and put them in tomorrow! We are also requesting that the GI surgeon assess her upper GI tract in an effort to gain information into what might be affecting the malabsorption problem. We are doing what we can to get the most 'bang for the buck' with one anesthesia experience.
Then, on Thursday morning, we will begin the day with an upper GI; which will likely be followed by vomiting...can't wait! On Friday, Kat will have a sweat test done; which is the least invasive test of her week. We will know Friday afternoon whether or not we need to continue exploring 'Cystic Fibrosis' as a possible cause of Kat's digestive problems. If everything comes back 'normal'...we will be at a loss and I assume the doctors will be stumped as well.
We don't want her to have any of these problems, but at the same time, we need to understand her digestive problems in order to begin treatment. So we ask that you pray for the wisdom of the doctors tomorrow, as well as great attentiveness by the anesthesiologist and the respiratory doctor responsible for the post-op recovery. We also ask for prayers for answers and insights into Kat's unique challenges in her body!
We appreciate all of your support! I will update as each test result is delivered to us!
Hugs and love,
Nicole
Here's the latest! It turns out the rectal biopsy we had done in Lubbock was useless...not deep enough. So, Katarina may NOT have Hirschsprung disease at all! Of course we will celebrate if she doesn't, but then we are no further in understanding what is going on digestively than we were a month ago....URGGG!
Tomorrow is a big day. Katarina will have a 'full thickness' rectal biopsy under anesthesia as well as an upper respiratory evaluation to assess her trachea/airway and her ears. If the Otolaryngologist (try saying that fast three times) feels she is in need of tubes in her ears, she will go ahead and put them in tomorrow! We are also requesting that the GI surgeon assess her upper GI tract in an effort to gain information into what might be affecting the malabsorption problem. We are doing what we can to get the most 'bang for the buck' with one anesthesia experience.
Then, on Thursday morning, we will begin the day with an upper GI; which will likely be followed by vomiting...can't wait! On Friday, Kat will have a sweat test done; which is the least invasive test of her week. We will know Friday afternoon whether or not we need to continue exploring 'Cystic Fibrosis' as a possible cause of Kat's digestive problems. If everything comes back 'normal'...we will be at a loss and I assume the doctors will be stumped as well.
We don't want her to have any of these problems, but at the same time, we need to understand her digestive problems in order to begin treatment. So we ask that you pray for the wisdom of the doctors tomorrow, as well as great attentiveness by the anesthesiologist and the respiratory doctor responsible for the post-op recovery. We also ask for prayers for answers and insights into Kat's unique challenges in her body!
We appreciate all of your support! I will update as each test result is delivered to us!
Hugs and love,
Nicole
Friday, February 19, 2010
More questions than answers...
Where do I begin?
I will start with the many blessings we've experienced over the past few days. I'm grateful that I didn't get a ticket for a VERY expired inspection sticker and speeding the night I arrived from Lubbock. I received a beautiful bouquet of red roses for Valentines from my two men!! It was bitter-sweet though as it was our first Valentines apart :-( We rebounded on Wednesday as the sun came out and the wind was completely calm on the beach. We embraced the sound of the ocean and the seagulls...truly peaceful!
I'm thankful to the jogger who took time out to take our photo.
On Thursday, we had the pleasure of meeting two other families with children with Down syndrome. One was a teen girl who had just had a liver transplant and the other mom picked Kat out in the Subway line and showed me a picture of her lil girl on her cell phone. It's an interesting journey to be a part of a club we didn't sign up for but have been so touched by! And I was able to teach via Skype for the past two weeks! Having some normalcy in less than 'normal' circumstances is very refreshing!!
On the medical front, we have made some progress and yet we still don't have a complete diagnostic picture. We are waiting for pathology to read the biopsy from Lubbock to determine whether Kat needs a secondary biopsy or if she has Hirschsprung at all. So, in the past two weeks, we have been referred to Pediatric surgery, genetics/skeletal dysplasia, pulmonology, endocrinology, and gastroenterology. What this really means is testing, testing and more testing. The most frustrating part of this process is the lack of swiftness in getting appts. Our endo appt is at the end of April and the Gastro appt is Mar 23rd...less than ideal when Kat's digestive system is not functioning;-(
Next week will involve an upper GI and a sweat test, and possibly a second biopsy under anesthesia. The sweat test will offer a quick result in an effort to rule out or begin to rule in Cystic Fibrosis. We hope to be clearer about the Hirschsprung disease one way or the other. In the mean time, Kat's body continues to fail to absorb anything she consumes, her appetite has diminished, and she has a fair amount of abdominal discomfort. Despite her body's challenges, she shares her precious smile and an occasional belly laugh when I play with her feet or balance a measuring cup on her head;-)
We continue to be amazed by the outpouring of support, love, gifts of thoughtfulness, prayers and messages.
I will return with an update mid-week! Katarina and I wish we were on the way back to Lubbock tomorrow, but need to stay put for now. Travis and Paul are in 'bachelor' mode and managing well. Travis insisted on buying his teacher a reading 'pointer' for a belated Valentine's gift! She deserves much more!
Hugs,
Nicole
I will start with the many blessings we've experienced over the past few days. I'm grateful that I didn't get a ticket for a VERY expired inspection sticker and speeding the night I arrived from Lubbock. I received a beautiful bouquet of red roses for Valentines from my two men!! It was bitter-sweet though as it was our first Valentines apart :-( We rebounded on Wednesday as the sun came out and the wind was completely calm on the beach. We embraced the sound of the ocean and the seagulls...truly peaceful!
I'm thankful to the jogger who took time out to take our photo.
On Thursday, we had the pleasure of meeting two other families with children with Down syndrome. One was a teen girl who had just had a liver transplant and the other mom picked Kat out in the Subway line and showed me a picture of her lil girl on her cell phone. It's an interesting journey to be a part of a club we didn't sign up for but have been so touched by! And I was able to teach via Skype for the past two weeks! Having some normalcy in less than 'normal' circumstances is very refreshing!!
On the medical front, we have made some progress and yet we still don't have a complete diagnostic picture. We are waiting for pathology to read the biopsy from Lubbock to determine whether Kat needs a secondary biopsy or if she has Hirschsprung at all. So, in the past two weeks, we have been referred to Pediatric surgery, genetics/skeletal dysplasia, pulmonology, endocrinology, and gastroenterology. What this really means is testing, testing and more testing. The most frustrating part of this process is the lack of swiftness in getting appts. Our endo appt is at the end of April and the Gastro appt is Mar 23rd...less than ideal when Kat's digestive system is not functioning;-(
Next week will involve an upper GI and a sweat test, and possibly a second biopsy under anesthesia. The sweat test will offer a quick result in an effort to rule out or begin to rule in Cystic Fibrosis. We hope to be clearer about the Hirschsprung disease one way or the other. In the mean time, Kat's body continues to fail to absorb anything she consumes, her appetite has diminished, and she has a fair amount of abdominal discomfort. Despite her body's challenges, she shares her precious smile and an occasional belly laugh when I play with her feet or balance a measuring cup on her head;-)
We continue to be amazed by the outpouring of support, love, gifts of thoughtfulness, prayers and messages.
I will return with an update mid-week! Katarina and I wish we were on the way back to Lubbock tomorrow, but need to stay put for now. Travis and Paul are in 'bachelor' mode and managing well. Travis insisted on buying his teacher a reading 'pointer' for a belated Valentine's gift! She deserves much more!
Hugs,
Nicole
Friday, February 12, 2010
Our Marathon Day!
Hello Everyone:
We have survived one VERY LONG day!!! We hit the road at 6:30 this morning and returned home at 6:00pm. We started off with our God-given appointment (b/c of a last minute cancellation) at the Skeletal/Genetics clinic. We met two fantastic docs who could handle any and all questions from Kat's MD (AKA: Mama Doctor)!!! AMEN!!!! The first doc did an entire history from pregnancy to present, a full genetic genogram, and a thorough physical exam. Then, we met the 'top dog' geneticist who just happened to be Italian; which was a definite plus;-) He never lost eye contact with me, remained seated the entire appt., interacted with Kat like she was worth being respected, and told me I was one 'sophisticated mom'!!! I give them both an A++++++++++. We left that appointment with an entire skeletal x-ray order and a full chromosome blood panel.
Appt #2: We ran to the Pediatric Surgery appointment....an hour late but we were still treated with the upmost care! Doc #1 acquired a full history AGAIN, listened to everything I said, and made appropriate faces when I explained that Kat had enterocolitis since Christmas week but was not treated for it until the end of January (not for lack of trying on her mom's part)!!!! Then 'top doc' pediatric surgeon #2 came in to see Katarina. She reviewed the 'rectal biopsy' results from our West Texas GI doc and was fairly confident that the 'Hirschsprung disease' diagnosis was accurate. Then, Miss Kat had the pleasure of an exit only exam;-( and left that appointment with an order for a 'barium enema'. If she had only known what her day would entail before we left the house this morning, she would have found an escape route in the night!!!
When we left the GI appointment, we checked in for the x-ray imaging and managed to survive through at least 15 images. Kat fought with all 14lbs and was so mad that the veins on her head felt like they were going to explode. By the time we made it down to the hematology lab, she had fallen asleep in her stroller. Then she had the joy of waking up for the blood draw...but fortunately only two vials for this round!
And last but not least....the BARIUM ENEMA; which was preceeded by a quick lunch at 2pm!! I don't remember chewing anything!! Kat put herself in the fetal position on the lab table as if she knew what was coming. Let's just say she was NOT a happy camper when her colon was maxed out by the barium! And yet, the screaming ended with a stroller ride out of the lab.
Whew! I'm tired just summing it up, but that's not the end. We requested specific directions for accessing the HOV lane on our way home, only to end up in a residential area where the signage left us hanging ;-( Then, we were instructed by a not-so-informed mailman, only to have completely missed the HOV lane and ended up in the wonderful Friday 'it's a long weekend' traffic.
Well, if that wasn't enough, we managed the rest of the way home in one piece, stopped to fill up for gas, and up came everything Kat had eaten all day;-p And yet despite all that....we arrived home, landed in the tub, finished off with a home grown enema by Mama Doctor, and a smiling Katarina within an hour! I can't say I would have been smiling after all she endured today, but that's my girl! I hope everyone else had a less pokey, proddy, pukey day than we did!
Oh...one more thing. Kat has two more appointments next week, one with endocrinology and one with pulmonolgy. Then, we will be given a surgery date for the colon operation and get to return home for a couple of weeks (we sure miss the men of the house)! We will return to Houston for the surgery and will be in the hospital for about a week. The surgeon gave us great hope that Katarina can lead a 'typical' bowel functioning life!
Please continue your prayers that Katarina does not acquire any more initials after her name, unless it's a BS when she's in her 20's!!
Your prayers have made all the difference today!
God bless,
Nicole
We have survived one VERY LONG day!!! We hit the road at 6:30 this morning and returned home at 6:00pm. We started off with our God-given appointment (b/c of a last minute cancellation) at the Skeletal/Genetics clinic. We met two fantastic docs who could handle any and all questions from Kat's MD (AKA: Mama Doctor)!!! AMEN!!!! The first doc did an entire history from pregnancy to present, a full genetic genogram, and a thorough physical exam. Then, we met the 'top dog' geneticist who just happened to be Italian; which was a definite plus;-) He never lost eye contact with me, remained seated the entire appt., interacted with Kat like she was worth being respected, and told me I was one 'sophisticated mom'!!! I give them both an A++++++++++. We left that appointment with an entire skeletal x-ray order and a full chromosome blood panel.
Appt #2: We ran to the Pediatric Surgery appointment....an hour late but we were still treated with the upmost care! Doc #1 acquired a full history AGAIN, listened to everything I said, and made appropriate faces when I explained that Kat had enterocolitis since Christmas week but was not treated for it until the end of January (not for lack of trying on her mom's part)!!!! Then 'top doc' pediatric surgeon #2 came in to see Katarina. She reviewed the 'rectal biopsy' results from our West Texas GI doc and was fairly confident that the 'Hirschsprung disease' diagnosis was accurate. Then, Miss Kat had the pleasure of an exit only exam;-( and left that appointment with an order for a 'barium enema'. If she had only known what her day would entail before we left the house this morning, she would have found an escape route in the night!!!
When we left the GI appointment, we checked in for the x-ray imaging and managed to survive through at least 15 images. Kat fought with all 14lbs and was so mad that the veins on her head felt like they were going to explode. By the time we made it down to the hematology lab, she had fallen asleep in her stroller. Then she had the joy of waking up for the blood draw...but fortunately only two vials for this round!
And last but not least....the BARIUM ENEMA; which was preceeded by a quick lunch at 2pm!! I don't remember chewing anything!! Kat put herself in the fetal position on the lab table as if she knew what was coming. Let's just say she was NOT a happy camper when her colon was maxed out by the barium! And yet, the screaming ended with a stroller ride out of the lab.
Whew! I'm tired just summing it up, but that's not the end. We requested specific directions for accessing the HOV lane on our way home, only to end up in a residential area where the signage left us hanging ;-( Then, we were instructed by a not-so-informed mailman, only to have completely missed the HOV lane and ended up in the wonderful Friday 'it's a long weekend' traffic.
Well, if that wasn't enough, we managed the rest of the way home in one piece, stopped to fill up for gas, and up came everything Kat had eaten all day;-p And yet despite all that....we arrived home, landed in the tub, finished off with a home grown enema by Mama Doctor, and a smiling Katarina within an hour! I can't say I would have been smiling after all she endured today, but that's my girl! I hope everyone else had a less pokey, proddy, pukey day than we did!
Oh...one more thing. Kat has two more appointments next week, one with endocrinology and one with pulmonolgy. Then, we will be given a surgery date for the colon operation and get to return home for a couple of weeks (we sure miss the men of the house)! We will return to Houston for the surgery and will be in the hospital for about a week. The surgeon gave us great hope that Katarina can lead a 'typical' bowel functioning life!
Please continue your prayers that Katarina does not acquire any more initials after her name, unless it's a BS when she's in her 20's!!
Your prayers have made all the difference today!
God bless,
Nicole
Thursday, February 11, 2010
Counting our blessings...
TGIF soon! The days pass quickly but the weeks have passed slowly. I have several blessings I want to highlight as we have begun this diagnosis journey. First off, I was approved for 'sick leave pool' which will postpone the need for me to go on FMLA. There are people I will never meet who have donated excess 'sick' leave, and I doubt they have any idea of the value it holds in our life right now!
Second, I have spent endless hours on the computer researching and learning about many related disorders that Katarina has exhibited symptoms of in an effort to assist the doctors in a differential diagnosis. Because she has a pre-lim diagnosis of Hirschsprung disease, I explored some of the related conditions to HD. Well, lo and behold, one of those conditions is a type of Dwarfism (Cartilage hair hypoplasia) CHH for short. Kat has several characteristics and dwarfism just might explain why she has always been SO SMALL...she very possibly might be a 'little person'. I can't help but smile when I type it out b/c she has always been my little person;-)
OK...focus! So, as I was reading about little persons last night, I looked further at the medical resources and TCH came up as a skeletal dysplasia clinic. I read further and found out their skeletal/genetic clinic meets the second friday of each month. I quickly glanced at the calendar and realized that this friday was the 2nd friday of February. I frantically threw together an email and contacted the coordinator. I wasn't expecting to be told anything other than there would be a 4-6month wait. BUT, this morning I received a reply and the coordinator said they had a 9:00 am CANCELLATION THIS FRIDAY!!!! I was doing back flips!
So tomorrow is a big day! We have the skeletal evaluation, then the gastic surgery evaluation and a pediatrician appt. to help us manage all the speciality referrals while we are in Houston. As you can tell, my newest title is 'case manager'. I spent all day Tuesday and Wednesday sending faxing and making calls to request medical records and organize a medical timeline.
The list of blessings goes on: great support by many friends and family, waking up to the ocean while we count down the days until we have a surgery plan, a variety of special gifts to ease our stress, and the BIG small favors that many have provided!
I will be back late tomorrow. I need some sleep to carry us through tomorrow.
Hugs and love,
Nicole
Second, I have spent endless hours on the computer researching and learning about many related disorders that Katarina has exhibited symptoms of in an effort to assist the doctors in a differential diagnosis. Because she has a pre-lim diagnosis of Hirschsprung disease, I explored some of the related conditions to HD. Well, lo and behold, one of those conditions is a type of Dwarfism (Cartilage hair hypoplasia) CHH for short. Kat has several characteristics and dwarfism just might explain why she has always been SO SMALL...she very possibly might be a 'little person'. I can't help but smile when I type it out b/c she has always been my little person;-)
OK...focus! So, as I was reading about little persons last night, I looked further at the medical resources and TCH came up as a skeletal dysplasia clinic. I read further and found out their skeletal/genetic clinic meets the second friday of each month. I quickly glanced at the calendar and realized that this friday was the 2nd friday of February. I frantically threw together an email and contacted the coordinator. I wasn't expecting to be told anything other than there would be a 4-6month wait. BUT, this morning I received a reply and the coordinator said they had a 9:00 am CANCELLATION THIS FRIDAY!!!! I was doing back flips!
So tomorrow is a big day! We have the skeletal evaluation, then the gastic surgery evaluation and a pediatrician appt. to help us manage all the speciality referrals while we are in Houston. As you can tell, my newest title is 'case manager'. I spent all day Tuesday and Wednesday sending faxing and making calls to request medical records and organize a medical timeline.
The list of blessings goes on: great support by many friends and family, waking up to the ocean while we count down the days until we have a surgery plan, a variety of special gifts to ease our stress, and the BIG small favors that many have provided!
I will be back late tomorrow. I need some sleep to carry us through tomorrow.
Hugs and love,
Nicole
Tuesday, February 9, 2010
The Symptom Puzzle
We had our first appointment yesterday at Texas Children's Hospital (TCH). Katarina met the developmental team...developmental director, speech therapist, physical therapist, nutritionist and genetic intern. We now have an appointment with the pediatric surgeon on Friday to address the pre-liminary diagnosis for Hirschsprung disease(HD) that we received in Lubbock. A confirmatory 'full thickness' biopsy of the colon needs to be done in order to know whether Kat definitely has HD. The initial biopsy does indicate a strong likelihood of HD, but we must take the next steps to know for sure.
In the meantime, we await blood work results to begin exploring other challenges Katarina may be facing. She recently had an elevated thyroid level; which is not uncommon in children with Down syndrome (DS). The thyroid is one of the easiest problems to treat. Another challenge Kat may be facing could be a type of leukemia. With Down syndrome (DS), there is an association with leukemia; although it is a small associaton, it is a possibility. Her recent battle with multiple infections and her difficulty in gaining weight certainly raises concern.
NOTE: God is great! We got the bloodwork back TODAY despite being told it could take a week! EVERYTHING came back NORMAL except her thyroid function; which we already knew was elevated. This means for now, we can set aside 'leukemia' as a diagnosis, and focus on the colon and malabsorption issues.
You are probably beginning to gain a better sense of how incredible Katarina really is. I have always known her uniqueness and yet I am still absorbing the depth of her uniqueness at a physical/medical level. We will do everything we can to get the medical team to understand the complexity of what is going on in her body as swiftly as possible, despite her joyous soul and peaceful state of being!!
We are grateful for your prayers and ask that you continue to pray for the medical process to function at its best in order to get Kat closer to the treatment phase!
Katarina has been feeling great despite all of her challenges. She was her precious self all day yesterday....and didn't meet a stranger. I was most touched by the spontaneous kiss she blew to another little girl waiting to get bloodwork done at TCH. That moment fully captured her spirit!!!
Hugs and love,
Nicole
P.S. The clouds have cleared and the sun is out, the wind and waves have subsided...kind of isomorphic to our medical storm...a brief lull that we will definitely embrace!!
In the meantime, we await blood work results to begin exploring other challenges Katarina may be facing. She recently had an elevated thyroid level; which is not uncommon in children with Down syndrome (DS). The thyroid is one of the easiest problems to treat. Another challenge Kat may be facing could be a type of leukemia. With Down syndrome (DS), there is an association with leukemia; although it is a small associaton, it is a possibility. Her recent battle with multiple infections and her difficulty in gaining weight certainly raises concern.
NOTE: God is great! We got the bloodwork back TODAY despite being told it could take a week! EVERYTHING came back NORMAL except her thyroid function; which we already knew was elevated. This means for now, we can set aside 'leukemia' as a diagnosis, and focus on the colon and malabsorption issues.
You are probably beginning to gain a better sense of how incredible Katarina really is. I have always known her uniqueness and yet I am still absorbing the depth of her uniqueness at a physical/medical level. We will do everything we can to get the medical team to understand the complexity of what is going on in her body as swiftly as possible, despite her joyous soul and peaceful state of being!!
We are grateful for your prayers and ask that you continue to pray for the medical process to function at its best in order to get Kat closer to the treatment phase!
Katarina has been feeling great despite all of her challenges. She was her precious self all day yesterday....and didn't meet a stranger. I was most touched by the spontaneous kiss she blew to another little girl waiting to get bloodwork done at TCH. That moment fully captured her spirit!!!
Hugs and love,
Nicole
P.S. The clouds have cleared and the sun is out, the wind and waves have subsided...kind of isomorphic to our medical storm...a brief lull that we will definitely embrace!!
Sunday, February 7, 2010
Related Links
http://lubbockonline.com/stories/012510/loc_554153861.shtml
http://www.onetruemedia.com/shared?p=9f84e35eb7801f80100e63&skin_id=0
http://www.onetruemedia.com/shared?p=9f84e35eb7801f80100e63&skin_id=0
Enjoying the beach!
Hello to all:
Katarina is in great spirits as her body is currently clear of infection...Amen! She is enjoying family at the beach house and savoring slab bacon for breakfast! She is definitely my girl! She's sportin her best 'bed head' look and making us all smile with her charm!
We head to Texas Children's Hospital in the morning and meet with Dr. Ostermaier, Director of the Down syndrome developmental clinic. We are ready to begin the journey of learning how incredibly unique our Katarina really is. We've always known that she is 'one of a kind' and has an unstoppable soul, but we expect to be told that she is also a medical miracle!!
Many of you have been praying for Katarina and have added her to numerous prayer list. Know that we definitely feel uplifted by your prayers!!! Please continue your prayers, and specifically asking for wisdom by the medical team, as well as attentiveness by the team to hear her mother's intuition regarding Katarina's health challenges. I am her 'Mama Doctor' (MD) and they need to include my insight and feedback in the team's evaluation and treatment process. After her respiratory and enterocolitis infection last week, I believe she would not be alive right now without her Mama Doctor at her side!!
I will post as often as I can and I appreciate all of the personal messages you have sent. If I don't respond quickly, please know that I have read them!!
Blessings to all,
Nicole
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