Hello Everyone - this is your long OVERDUE update;-p
This has been the craziest year of my life, I think! I have very little time to write which saddens me greatly. I will always have you all in my heart, but can't write much under the constraints of my current life!
Kat turned two in May and has stolen our hearts in the best way imaginable. Travis adores her and makes me/us so proud. He turned 6 in July and is going on 16 most days. He is very smart...made a '100' on his very first spelling test in 1st grade....makes a mama proud ;-) He has lost three teeth and grown even taller. He learned to swim this summer after Kat 'outdid him' in the bathtub one night;-)
The diagnostic health journey with Kat continues. For a quick review: we spent 6 weeks in houston in Feb/Mar in an effort to get a diagnosis for pancreatic insufficiency (PI). She has responded well from enzyme treatment and has gone from 14-1/2 lbs to right under 20lbs (~29.5 in)...praise God!! She is still so small for her age but completely perfect in every way. She has so much charm and personality.
She has been standing/holding onto furniture and is beginning to take steps with support. She recently was signing something we weren't familiar with, but once she said 'bir' we realized and looked it up in our 'sign' book. She was making the exact sign for 'bird'. She has rhythm that won't quit whenever she hears a beat! I told someone recently that I think she will end up in Hollywood at some point!!! I am SO BLESSED to have the most beautiful kids in the world and a dedicated husband.
Paul and I stay very busy with a two-career life. I am just returning from a professional conference where I presented the Down syndrome research I have been working on this past year with a colleague of mine; who also has a child with DS. We are analyzing the data of over 375 completed survey responses from other parents. We are planning to develop a brochure that all parents will be given when they receive a DS diagnosis. We also hope to begin offering training to medical residents on doctor-patient communication of poor pre-natal diagnosis (hate that term) b/c there is nothing 'poor' about Kat!
Our next step is to figure out what is going on with Kat's IGF-1 and hGH levels. She either has a deficiency of one or both and ultimately will probably receive a diagnosis of 'dwarfism'. She is truly one in a 6.8 BILLION girl!
I will do my best to update more often, but at least once we get her next testing done in October. I know many of you have prayed for us since the pregnancy with Kat. You can't fully know the great impact you have had on my faith!
Love and hugs to all,
Nicole
Saturday, September 25, 2010
Wednesday, April 7, 2010
Blown away by Kat's latest....
POTTY TRAINING!!! Kat just turned 22 months and recently was diagnosed with pancreatic insufficiency (PI). She started enzyme treatment less than a month ago and has solid 'poop' for the first time in her life! About 4 months ago I pulled out the training potty we saved from our son and sat her on it. She did NOT like it and clearly wasn't ready to even sit on it!! So, I put it away and let go of the idea of potty training any time soon.
However, the other night she appeared to need to 'poop' when she was taking a bath, so I pulled out the training potty and sat her on it and told her to 'push'. She did and I can say she has officially begun the process. Of course, it is easy to say 'that was great timing' on my part. But, we proceeded with lots of praise and a victory dance, and remained skeptical as to whether she was truly ready.
The next evening was an exact duplicate of the above scenario...bath, started to pass gas, pulled her out, put her on the potty and VIOLA!!! More celebration continued. Still wondering if this could be true....I started her bottle this morning, proceeded with getting myself dressed and then took her to change her overnight diaper. I paused and told her...'let's go potty'.
I sat her down and told her to 'push with your tummy'. Less than 5 minutes later, she pooped and peed and clapped for herself!!! NOTE: she had not shown any signs that she was about to poop beforehand!!
Could this really be the beginning of successful potty training at 22months???
The funniest thing about this is she is SO SMALL (est. 16+lbs/27in) from the malnutrition related to the PI, that her feet still don't touch the ground when sitting on the training potty and she is nowhere close to pulling up or walking. I continue to be amazed by her!!
She is NOT going to be happy with me, when she sees this as a teenager, but here's the proof!
Blessings,
Nicole
However, the other night she appeared to need to 'poop' when she was taking a bath, so I pulled out the training potty and sat her on it and told her to 'push'. She did and I can say she has officially begun the process. Of course, it is easy to say 'that was great timing' on my part. But, we proceeded with lots of praise and a victory dance, and remained skeptical as to whether she was truly ready.
The next evening was an exact duplicate of the above scenario...bath, started to pass gas, pulled her out, put her on the potty and VIOLA!!! More celebration continued. Still wondering if this could be true....I started her bottle this morning, proceeded with getting myself dressed and then took her to change her overnight diaper. I paused and told her...'let's go potty'.
I sat her down and told her to 'push with your tummy'. Less than 5 minutes later, she pooped and peed and clapped for herself!!! NOTE: she had not shown any signs that she was about to poop beforehand!!
Could this really be the beginning of successful potty training at 22months???
The funniest thing about this is she is SO SMALL (est. 16+lbs/27in) from the malnutrition related to the PI, that her feet still don't touch the ground when sitting on the training potty and she is nowhere close to pulling up or walking. I continue to be amazed by her!!
She is NOT going to be happy with me, when she sees this as a teenager, but here's the proof!
Blessings,
Nicole
Sunday, April 4, 2010
Happy Easter...what a perfect day!
There are more photos to come, but here are some from today! I hope everyone was blessed to join family and friends on this blessed day!
Saturday, April 3, 2010
2010....first quarter favorites!!
Together again...after 4 weeks apart!
Dma's quilting talent...and check out my crazy curls~~~
Daddy making me laugh!
Bathtime is the best!
Spring is here...but it's a bit chilly!
Travis time at Moody Gardens:)
Soooo glad there's glass between us!
TAMFT San Antonio....work and play!
Nicole and NicHole...and we appear to be matching...hmmm
Kat's biggest fan!
Happy Easter and Blessings to all!!!
Dma's quilting talent...and check out my crazy curls~~~
Daddy making me laugh!
Bathtime is the best!
Spring is here...but it's a bit chilly!
Travis time at Moody Gardens:)
Soooo glad there's glass between us!
TAMFT San Antonio....work and play!
Nicole and NicHole...and we appear to be matching...hmmm
Kat's biggest fan!
Happy Easter and Blessings to all!!!
Wednesday, March 31, 2010
The meaning of '21'....
What a month! The quick health update on Katarina is quite positive. She is responding well to enzyme treatment and has gained over a pound in the past two weeks! We are waiting on a gene test result for Shwachman Diamond Syndrome...the second most common cause of 'pancreatic insufficiency' after cystic fibrosis. We expect to hear something by mid-April. In the mean time, Kat is getting stronger and appears to be closer to achieving a true crawling position. She can also identify a 'duck' and belt out an impressive 'quack-quack';-). Travis is advancing with his reading and tells me daily that his teeth have been hurting. He also thinks the tooth fairy is going to leave him $100 for his first tooth. I don't know who out there has set us up for this one, but that is one wealthy tooth fairy!
On a much more serious note, I am reminded that we have been blessed in so many ways...not only by our first miracle, Travis, but also by our daughter whom we are so fortunate to call ours! This month has been filled with some very touching moments. I have been reflecting on a few encounters that occured in the recent past, and I continue to wonder about the greater meaning of each of them. This is lengthy but will make sense in the end.
Encounter #1:
I was at CVS buying pediasure for Kat following the recommendation of the nutritionist to increase her fat and coloric intake. As we were checking out together, one of the workers took notice of Kat, and asked, 'how old is she?' A common question amidst an uncommon encounter. I replied, 'almost 21 months'...which is usually followed by, 'oh...she is so tiny'. But, this encounter was less than typical. The CVS worker replied, 'my granddaughter would have been 21 months'. Taken back by what I thought I heard....I paused, and then clarified, 'did you say would have been?'. The worker said, 'yes' and I clearly knew what she meant.
I struggled with whether to be curious or change the subject as there were other customers joining the check-out line, and I wasn't sure why this complete stranger felt compelled to tell me that her grand-daughter had died. I then shared that we were 'in from out of town getting testing at Texas Children's Hospital' b/c Kat was having some health problems. We were done with our transaction and I ended the encounter with a simple, 'God bless'. I was definitely impacted by this encounter as I thanked God for life...the life we were living despite the fears and unknowns.
Encounter #2:
I came to discover a beautiful family with a little girl named Layla Grace, via another mom I am linked to on Facebook who has a child with Down syndrome. Layla Grace was from the NW Houston area and was fighting for her life as she was in the terminal phases of Stage IV neuroblastoma. During our time in Houston, I checked the updates on Layla's facebook link. The impact this little girl had on people she never met was profound. I learned of her beautiful smile and her amazing spirit. I also learned that her life on earth came to an end on March 9th. I tried to imagine the pain her family felt in letting her go in such an untimely fashion. I further became grateful of Kat's current health status, again despite the ongoing unknowns. I took note that I had another day that Layla Grace's parents did not! Kat and I returned home to Lubbock the same day that Layla Grace's parents laid her to rest.
Encounter #3:
The third and most touching encounter began last December. I had sent an update to the genetic counselor we met with following the initial news that something was not right with our pregnancy with Katarina. I attached a picture montage to the email and gave the counselor permission to share my contact info with any couple struggling with a pre-natal Down syndrome diagnosis. Much to my surprise, about a week later, I received an email from a couple who had just received a DS amnio result. They had questions for me, and I was more than willing to help as I felt it was important for me to 'pay it forward' just like those who had done so for us. The beauty of God's timing was perfect. The kids and I were headed to Houston before Christmas to visit family not far from where this couple lived. After several emails, we arranged to meet in person. I brought Kat with me and spent some time visiting with them and doing my best to prepare them for what would lie ahead. They were gracious and scared, but ready for the journey.
Now, fast forward. I had been thinking about them this past week and remembered they were nearing 'birth-day' of their precious little boy, but I couldn't recall exactly when she was due. So, I sent an email today inquiring about the status of their little boy's arrival. Their reply came swiftly and with devastating news. Their precious little boy came into the world last Friday, after they discovered that his heart was no longer beating two days prior. I am deeply saddened by their loss and left with little understanding as to why this happened. They began to prepare for a child they never thought they'd have, while also finding acceptance that their child carried an extra 21st chromosome. Their hearts filled with love as the pregnancy progressed, and relief as they received positive news following each pre-natal evaluation.
I remember telling them before Christmas that I couldn't predict or promise what the future would hold, but that they would NOT have regrets about bringing him into the world. Those words seem so surreal in light of this news. Somehow I knew how special they were after one face-to-face encounter. Now I truly know that they have been chosen to illustrate God's grace as they walk down the next path on this journey called life.
They spent less than 24 hours with their lil guy, and are left to face the future without living out the dreams they began to dream for him. The husband said it so beautifully in his email to me, 'Some people dream of angels…..we held ours in our arms!'
As I write to you all on this 31st day of March, I celebrate Kat's 22nd month of life, more than the grandmother had in encounter #1 and so much more than the couple in encounter #3. Once again I thank God for today and for that 'extra something' on the 21st chromosome!
NOTE: this month also included a celebration of many others with that extra chromosome....World Down syndrome Day (3-21-10). The beautiful couple mentioned above last felt movement of their much awaited son on Saturday, Mar 20th. On Thursday, March 25th, I had the privilege of witnessing a doctoral defense presentation on 'Pregnancy Loss' involving the grief experience many couples endure....one million each year! The 'lil guy' I never had the chance to meet was born the next day.
Three encounters...3 special children...touched by 3 angels above!
On a much more serious note, I am reminded that we have been blessed in so many ways...not only by our first miracle, Travis, but also by our daughter whom we are so fortunate to call ours! This month has been filled with some very touching moments. I have been reflecting on a few encounters that occured in the recent past, and I continue to wonder about the greater meaning of each of them. This is lengthy but will make sense in the end.
Encounter #1:
I was at CVS buying pediasure for Kat following the recommendation of the nutritionist to increase her fat and coloric intake. As we were checking out together, one of the workers took notice of Kat, and asked, 'how old is she?' A common question amidst an uncommon encounter. I replied, 'almost 21 months'...which is usually followed by, 'oh...she is so tiny'. But, this encounter was less than typical. The CVS worker replied, 'my granddaughter would have been 21 months'. Taken back by what I thought I heard....I paused, and then clarified, 'did you say would have been?'. The worker said, 'yes' and I clearly knew what she meant.
I struggled with whether to be curious or change the subject as there were other customers joining the check-out line, and I wasn't sure why this complete stranger felt compelled to tell me that her grand-daughter had died. I then shared that we were 'in from out of town getting testing at Texas Children's Hospital' b/c Kat was having some health problems. We were done with our transaction and I ended the encounter with a simple, 'God bless'. I was definitely impacted by this encounter as I thanked God for life...the life we were living despite the fears and unknowns.
Encounter #2:
I came to discover a beautiful family with a little girl named Layla Grace, via another mom I am linked to on Facebook who has a child with Down syndrome. Layla Grace was from the NW Houston area and was fighting for her life as she was in the terminal phases of Stage IV neuroblastoma. During our time in Houston, I checked the updates on Layla's facebook link. The impact this little girl had on people she never met was profound. I learned of her beautiful smile and her amazing spirit. I also learned that her life on earth came to an end on March 9th. I tried to imagine the pain her family felt in letting her go in such an untimely fashion. I further became grateful of Kat's current health status, again despite the ongoing unknowns. I took note that I had another day that Layla Grace's parents did not! Kat and I returned home to Lubbock the same day that Layla Grace's parents laid her to rest.
Encounter #3:
The third and most touching encounter began last December. I had sent an update to the genetic counselor we met with following the initial news that something was not right with our pregnancy with Katarina. I attached a picture montage to the email and gave the counselor permission to share my contact info with any couple struggling with a pre-natal Down syndrome diagnosis. Much to my surprise, about a week later, I received an email from a couple who had just received a DS amnio result. They had questions for me, and I was more than willing to help as I felt it was important for me to 'pay it forward' just like those who had done so for us. The beauty of God's timing was perfect. The kids and I were headed to Houston before Christmas to visit family not far from where this couple lived. After several emails, we arranged to meet in person. I brought Kat with me and spent some time visiting with them and doing my best to prepare them for what would lie ahead. They were gracious and scared, but ready for the journey.
Now, fast forward. I had been thinking about them this past week and remembered they were nearing 'birth-day' of their precious little boy, but I couldn't recall exactly when she was due. So, I sent an email today inquiring about the status of their little boy's arrival. Their reply came swiftly and with devastating news. Their precious little boy came into the world last Friday, after they discovered that his heart was no longer beating two days prior. I am deeply saddened by their loss and left with little understanding as to why this happened. They began to prepare for a child they never thought they'd have, while also finding acceptance that their child carried an extra 21st chromosome. Their hearts filled with love as the pregnancy progressed, and relief as they received positive news following each pre-natal evaluation.
I remember telling them before Christmas that I couldn't predict or promise what the future would hold, but that they would NOT have regrets about bringing him into the world. Those words seem so surreal in light of this news. Somehow I knew how special they were after one face-to-face encounter. Now I truly know that they have been chosen to illustrate God's grace as they walk down the next path on this journey called life.
They spent less than 24 hours with their lil guy, and are left to face the future without living out the dreams they began to dream for him. The husband said it so beautifully in his email to me, 'Some people dream of angels…..we held ours in our arms!'
As I write to you all on this 31st day of March, I celebrate Kat's 22nd month of life, more than the grandmother had in encounter #1 and so much more than the couple in encounter #3. Once again I thank God for today and for that 'extra something' on the 21st chromosome!
NOTE: this month also included a celebration of many others with that extra chromosome....World Down syndrome Day (3-21-10). The beautiful couple mentioned above last felt movement of their much awaited son on Saturday, Mar 20th. On Thursday, March 25th, I had the privilege of witnessing a doctoral defense presentation on 'Pregnancy Loss' involving the grief experience many couples endure....one million each year! The 'lil guy' I never had the chance to meet was born the next day.
Three encounters...3 special children...touched by 3 angels above!
Tuesday, March 16, 2010
Home Sweet Home!!
Hey Team:
Kat and I returned to Lubbock on Saturday...5 weeks after heading to Houston in search of medical answers. I thanked God as we pulled into the driveway together...something I wasn't sure would happen the day we left for Houston!!
We received long awaited news on Wednesday, March 10th that Kat has 'pancreatic insufficiency' which is the cause of her malabsorption and failure to thrive. Her pancreas is not producing enough enzymes to break down food for absorption; and specifically high fat foods.
The gastro doctor suggested that we run bloodwork for a rare disorder called 'Shwachman Diamond Syndrome'...try saying that fast three times! I will refer to it as SDS. It is a genetic disorder where the parents are both recessive carriers of the gene mutation. It is the second most common cause of pancreatic insufficiency after Cystic Fibrosis. We have another two weeks of waiting for the test result, but in the mean time, we have begun enzyme treatment.
If the test comes back 'normal', the doctor might suggest a biopsy of the small intestine. However, she stated that if Kat responds well to the enzyme therapy, there would be less urgency to proceed with the biopsy. We pray that Kat does NOT have SDS b/c there are some very serious hematological issues inherent with the disorder, namely Leukemia, but also skeletal issues similar to dwarfism.
The most worrisome piece of Kat's symptoms is an outbreak of pinhead sized red-speckled dots under her skin called 'Petechiae'. Several doctors have examined her when the specs were present, but the blood work continues to come up 'normal'. The petechiae could be explained by the hematological problems associated with SDS, but at this point, no one can explain it.
We are in the process of getting our bearings and returning to some level of 'normalcy'...whatever that is! Kat returned to her school today for a few hours in an effort to transition her back to a schedule. Her friends greeted her with curiosity and her teachers were thrilled to see her;-) I made my way to campus and worked for the first time in several weeks. I know it will take time to be clear headed after many sleep-deprived days and loads of stress, but it was nice to return to my office.
Ultimately, Kat is my hero! I am amazed at her strength in light of her body's limits. Over the course of the last few weeks, she has learned to sit up from a lying down position!! You will have to see it in person, but it is definitely her creation. She pulls her knees into her belly, then pushes her hands towards her feet and pops upright;-) The best part of her ongoing development is the addition of the word 'ma ma'!!! I've waited 21 months to hear those words, and they melt my heart<3
After giving blood on March 10th, we headed to San Antonio where I was scheduled to present my research on resilience in families raising a child with Down syndrome. It was wonderful to meet other people who have been touched by DS and hear about their journey. Kat didn't meet a stranger during our time at the conference...she waved at anyone who was looking;-)
I can't thank our friends and family enough for the numerous prayers, emails and phone calls during this time. We are grateful for your love! I will post more as things progress.
Blessings to all,
Nicole
Kat and I returned to Lubbock on Saturday...5 weeks after heading to Houston in search of medical answers. I thanked God as we pulled into the driveway together...something I wasn't sure would happen the day we left for Houston!!
We received long awaited news on Wednesday, March 10th that Kat has 'pancreatic insufficiency' which is the cause of her malabsorption and failure to thrive. Her pancreas is not producing enough enzymes to break down food for absorption; and specifically high fat foods.
The gastro doctor suggested that we run bloodwork for a rare disorder called 'Shwachman Diamond Syndrome'...try saying that fast three times! I will refer to it as SDS. It is a genetic disorder where the parents are both recessive carriers of the gene mutation. It is the second most common cause of pancreatic insufficiency after Cystic Fibrosis. We have another two weeks of waiting for the test result, but in the mean time, we have begun enzyme treatment.
If the test comes back 'normal', the doctor might suggest a biopsy of the small intestine. However, she stated that if Kat responds well to the enzyme therapy, there would be less urgency to proceed with the biopsy. We pray that Kat does NOT have SDS b/c there are some very serious hematological issues inherent with the disorder, namely Leukemia, but also skeletal issues similar to dwarfism.
The most worrisome piece of Kat's symptoms is an outbreak of pinhead sized red-speckled dots under her skin called 'Petechiae'. Several doctors have examined her when the specs were present, but the blood work continues to come up 'normal'. The petechiae could be explained by the hematological problems associated with SDS, but at this point, no one can explain it.
We are in the process of getting our bearings and returning to some level of 'normalcy'...whatever that is! Kat returned to her school today for a few hours in an effort to transition her back to a schedule. Her friends greeted her with curiosity and her teachers were thrilled to see her;-) I made my way to campus and worked for the first time in several weeks. I know it will take time to be clear headed after many sleep-deprived days and loads of stress, but it was nice to return to my office.
Ultimately, Kat is my hero! I am amazed at her strength in light of her body's limits. Over the course of the last few weeks, she has learned to sit up from a lying down position!! You will have to see it in person, but it is definitely her creation. She pulls her knees into her belly, then pushes her hands towards her feet and pops upright;-) The best part of her ongoing development is the addition of the word 'ma ma'!!! I've waited 21 months to hear those words, and they melt my heart<3
After giving blood on March 10th, we headed to San Antonio where I was scheduled to present my research on resilience in families raising a child with Down syndrome. It was wonderful to meet other people who have been touched by DS and hear about their journey. Kat didn't meet a stranger during our time at the conference...she waved at anyone who was looking;-)
I can't thank our friends and family enough for the numerous prayers, emails and phone calls during this time. We are grateful for your love! I will post more as things progress.
Blessings to all,
Nicole
Friday, March 5, 2010
Getting closer...
...to a diagnosis.
We FINALLY had the gastro appt. yesterday (4 weeks after arriving in Hou) and the Dr. believes that Katarina has pancreatic insufficiency which involves malabsorption of fat and can be improved with enzyme treatment. She ordered another stool test to measure the level of elastace. Reduced elastace in the stool is an indicator of malabsorption. We're back to waiting and wish we had some results before day's end, but we know they're in process!
In the mean time, my two men arrived yesterday afternoon and we are enjoying the beach!! Travis is catching up on mommy time and can't get enough snuggling;-) Katarina couldn't get enough bed time kisses from Paul last night...she LOVES her daddy!
I'll post more as soon as we know more!
Hugs,
Nicole
We FINALLY had the gastro appt. yesterday (4 weeks after arriving in Hou) and the Dr. believes that Katarina has pancreatic insufficiency which involves malabsorption of fat and can be improved with enzyme treatment. She ordered another stool test to measure the level of elastace. Reduced elastace in the stool is an indicator of malabsorption. We're back to waiting and wish we had some results before day's end, but we know they're in process!
In the mean time, my two men arrived yesterday afternoon and we are enjoying the beach!! Travis is catching up on mommy time and can't get enough snuggling;-) Katarina couldn't get enough bed time kisses from Paul last night...she LOVES her daddy!
I'll post more as soon as we know more!
Hugs,
Nicole
Tuesday, March 2, 2010
Prayers being answered!!!
Hello again:
I woke up today feeling a bit low as we wait for results and next Tuesday's long awaited Gastro appt. But Katarina lent me some of her determined spirit, and I called the Clear Lake Texas Children's Gastro office and asked to be placed on the waiting list for any cancellations this Thursday. Keep in mind, the Gastro doc is only in Clear Lake on Thursdays, so our chances were VERY slim. But I am further reminded that our care has not been organized by 'chance' at all! I just received a call from the Clear Lake office and they have a 9:30 opening this week! AMEN...AMEN...AMEN!!! This is the second cancelled appt. we have inherited during our time in Houston. We have more waiting, but it has been reduced by 6 days;-)
Thursday will also be a great day b/c we get to see our two favorite men...Paul and Travis!
And FYI: I finally figured out to insert a picture into the blog, so if you scroll down into the older posts, you can take a look!
Keep praying and know that our prayers ARE being ANSWERED!!
Blessings,
Nicole
I woke up today feeling a bit low as we wait for results and next Tuesday's long awaited Gastro appt. But Katarina lent me some of her determined spirit, and I called the Clear Lake Texas Children's Gastro office and asked to be placed on the waiting list for any cancellations this Thursday. Keep in mind, the Gastro doc is only in Clear Lake on Thursdays, so our chances were VERY slim. But I am further reminded that our care has not been organized by 'chance' at all! I just received a call from the Clear Lake office and they have a 9:30 opening this week! AMEN...AMEN...AMEN!!! This is the second cancelled appt. we have inherited during our time in Houston. We have more waiting, but it has been reduced by 6 days;-)
Thursday will also be a great day b/c we get to see our two favorite men...Paul and Travis!
And FYI: I finally figured out to insert a picture into the blog, so if you scroll down into the older posts, you can take a look!
Keep praying and know that our prayers ARE being ANSWERED!!
Blessings,
Nicole
Friday, February 26, 2010
Another NORMAL test result!
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
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
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
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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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