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!
Wednesday, March 31, 2010
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
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