Where to begin???

Hello Everyone:

I can't believe I haven't written anything for the past nine months! I will do my best to give a summary and important highlights of what I can remember ;-p So many great things have occurred for both Kat and Travis and for our family in general. I think the easiest way to update is in 'calendar' style.

October - Kat officially weighed in at 21lbs! We requested blood work to assess her Human Growth Hormone level; which resulted in scheduling a Growth Hormone Stimulation test. This month also represented another opportunity to pause and be greatful. One of my 'cyber' friends had to bury her daughter Renee, after complications from Cystic Fibrosis. This was particularly sad because her daugther also had Down syndrome. If you all remember, there was a point in time that we suspected Kat had cystic fibrosis due to her pancreatic/malabsorption problems. Thankfully, her test results came back negative. Unfortunately, for Renee's familly, their hearts are broken until they meet again!!

Happy Halloween...from Sumo Travis and Ballerina Katarina...







November - The 'stim' test was a success and the results came back normal. Kat had to endure an IV for about 3 hours without anything to eat or drink. We entertained with stickers, DVD's and bubbles. She was a trooper as always!




December - Given the craziness of the year, we opted for Christmas at home. I think we have started a new tradition. It was hard to be away from family, but definitely less stressful and less exhausting than travelling with two kids and gifts! Kat stood up on her own on New Year's Eve and began using her walker to get around the house!




January 2011 - Kat began wearing panties during the day! We expected the usual accidents but were greatful to approach this significant milestone... I also organized and hosted the Family Therapy Symposium at Texas Tech. I presented the results of the Down syndrome research I have been working on with my colleague Briana and some of my wonderful grad students. We presented results about the most positive and negative experiences of parents of children with DS as well as 'advice to parents by parents'. The day was very touching. We even had a young woman in the audience, named Jordan, who shared about her own life as a person with DS. I don't think there was a dry eye in the house as she thanked the audience for 'their service'!

February - I'm sure something meaningful happened but who can remember that far back in time???

March - A year ago this month, we returned home from Houston after 6 weeks of medical appointments and diagnostic surgery. Kat has continued to demonstrate her amazing spirit of 'determination'. She can bear crawl like no other and is standing more and more each day.



April - We have been working steadily on increasing Kat's spoken words. She has done fantastic with sign language, and we know she will speak fully in the near future. She says regularly, 'what is that?' and 'who is that?'. We have counted up about 50 signs and about 25 words. We are truly amazed by her progress.

Thanks to our great friends who offerred their condo to us, we had a wonderful Easter in Angel Fire, New Mexico. We were blessed by snow the morning we departed back to Texas!






May - Travis completed 1st grade with all A's...we are so PROUD! Katarina turned 3 and is WALKING!! We completed Early Intervention Services and said goodbye to Kat's team. It was bitter-sweet...on one hand we celbrated all the accomplishments over the past year, and on the other hand had to say 'goodbye' to a wonderful group of people who we will never forget!





June - Summer is finally here, but with teaching summer school, it didn't feel any less stressful than a regular semester. Thankfully, I have survived and now get to breathe a bit. Kat had a check up with her pediatrician weighing in at 25lbs and measuring 31 inches. Still small but mighty!

July - Travis turned 7!!! He makes us so proud with who he is becoming...a young man. It is difficult to imagine that he will be graduating from high school in 10 years and yet I realize it too will happen in a flash.



I hope you all are finding ways to stay cool in this summer heat. We are officially in a drought with little relief in sight. We plan as many visits to the pool as possible.

Hugs and love to all,
Nicole

SIX month past due update!!

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

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

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!

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!!!

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!

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