One Year

One year. One year without hearing her belly laugh. One year without watching her dance to Pentatonix and Home Free. One year without our favorite nurses and therapists in our home. One year without weekly trips to see Dr. Lemler and the cardiology clinic crew. One year of not filling med syringes. One year of not fighting insurance companies for what she needed. One year of not hearing the incessant beeping of multiple medical machines. One year of not listening to her FaceTime conversations with Grampa. One year of not hearing her beg to take Max to Sonic.  One year without silly hand. One year of not singing “Your Special” song every night. One year of not watching her go super fast with daddy on her power wheels. One year of Emma not telling me that she loved me. One year without Emma and Oh what a year it’s been.

The year has gone by surprisingly fast.  Some days it seems like years since I have heard her laugh.  Scott and I get asked a lot how we are doing? Most of the time you will hear us say that we are doing fine. And truthfully, that’s the case most days. We find ourselves settling into the monotony of life.  Over the course of the year, we have learned some things about grief, learned some things about ourselves, and learned even more how to cling to our hope.  Here are some things we have learned:

Lesson 1: People continue to live their lives. The sun rises and the sun sets. People continue to get up and go to their jobs or take care of their children. As they should. While Scott and I were left to grapple with what our lives would look like, what our new normal would be. To be honest, that was harder for me than I thought. Scott went back to work and I was left at home. I was left in the quiet. That deafening quiet that you long for as a parent, but I can promise you that you hate when it becomes your daily reality. For a while I was busy with getting our new house settled, but when the dust settled from all of that, I struggled with finding my place. I tried subbing at some local schools but didn’t really connect like I hoped. You see, when your life is consumed with caring for an individual, in the ways that I cared for Emma for years, it was like having an essential part of my body removed when she passed away.  There have been days that it hurts to breathe…..that physically getting out of bed is a struggle.  There have been many days that I (and Scott) have put smiles on our faces and attended various events in the midst of our grief.  However, through it all, I’m slowly finding where I belong, so to speak, and Scott is settling back in to his norm and well, the world is slowly starting to turn again.

Lesson 2: Scott and I were reminded about the importance of marriage. Let me delve into that. Growing up my parents always made it apparent to my brother and I that after their relationship with God, the second most important relationship they had was theirs. This is how God designed marriage and when it works this way, it is a beautiful thing. In all transparency and honesty, Scott and I struggled with this while taking care of Emma. Emma’s life and all of her medical problems created a situation in which her care had to become a top priority. While neither one of us ever regret the ways in which we cared for, there were times in which we did not take care of our marriage. I am thankful for my parents who forced us at times to step out of the hospital or take a vacation to create an environment where were able to reconnect and focus on each other. All of this became even more important after we lost Emma.  You see, there is no one on this earth. I repeat no one who can begin to understand how I feel. The person who can come close is Scott. Through the loss of our child, we had to rely on one another, open up to one another, cry with one another, and laugh and reminisce. I can say that I am truly blessed to have Scott in my life for many reasons and I can’t even begin to imagine what my life would be like without his support. I would encourage all of my married friends and family to make your marriage a priority. Find time to cultivate your marriage, to strengthen your marriage, and to put your marriage in the place that it should be. I hope that you never have to experience the hardships and pain that Scott and I (and way too many other families) have had to face but I promise that if you do, having that partner makes a world of difference.

Lesson 3: Grief looks different for everyone.  Some people need to cry.  Some people need to become reclusive.  Some people need to make frequent visits to the cemetery.  Some people bottle everything up inside.  Some people want to constantly talk about their loved one.  Some people are a combination of these…..and guess what?  It is all ok!  We all have the right to grieve how we feel is best.  We have had people concerned about the way Scott and I are grieving.  Let me make something very clear, Scott and I have been grieving since before Emma was born. For six years Scott and I loved our child and we cherished the moments that we had with her but we also grieved her. And that may sound odd to some of you out there but it is what worked for us. We grieved the normal that we were not going to have. We grieved the fact that our child was not going to learn how to ride a bicycle, we grieved the fact that we might never hear her say our names. We grieved the fact that we wouldn’t get to take her to see all of these wonderful places that we hoped we could get to. We grieved the fact that she might never know what it was like to not experience frequent doctors’ visits, pokes, and hospital stays and yes we grieved the fact that we would probably never see her make it to her teenage years. You see, we are fairly private people when it comes to our grief. But the odds of you seeing Scott and I in tears over Emma is very small. That does not mean that we do not grieve or shed tears.  You do not see the solo car trips in which tears flow as some of “our songs play on the radio.”  You do not see the random days when a picture or a memory triggers a good cathartic cry.  Please don’t EVER judge the grief of bereaved parents.  You may think you understand, but your “advice” is not wanted or needed.  I will tell you what you CAN do.  You can offer support, a random card or text, telling them a favorite memory of the person, or literally just listening.

Lesson 4: God and HIS promises are enough. I can’t tell you how many times well-meaning and extremely kind people tell us that we are inspiring and strong. These words are uplifting and so very humbling and yet at our core Scott and I are not enough. We are not strong, we are not perfect, we are not inspiring but I can tell you with every fiber of my being who is.  We serve a God who has carried us through our darkest moments. We serve a God who has been faithful when we are weak, who stays stays strong when I faulter and who has never left our side in this journey. We find our joy in HIM and HIS promises and we know without a shadow of a doubt that our sweet girl is finally whole because of him. That doesn’t mean that we haven’t been sad or angry or hurt, but it means that through it all we have a hope and that hope has carried us through. For Scott and I we relied heavily on our faith. We coveted prayers from people and we were comforted in the fact that we serve a God who has our best interest at heart even though that might look different than what we thought .That’s what worked for us that’s what helped us as we faced new daily challenges, embraced the hardships, and worked on focusing primarily on the blessings. And it’s OK to get angry. It’s OK to feel overwhelmed and lost and sad. That is so normal feel those things, so cry, scream, hit a punching bag, or whatever but don’t let it overcome you.

Lesson 5: It is so important for us to remain active in the CHD community.  When Emma was diagnosed with a CHD, we joined a club that no one wants to join; however, that community became extremely important in our lives.  The doctors, nurses, therapists, social workers, child life specialists, other hospital staff, and CHD families have become family to us over the last seven years.  It is important to Scott and I that we stay active at the hospital and in the greater CHD community.  We have opinions and advocacy to share, and support and encouragement to give. 

“The death of a child is so painful, both emotionally and spiritually, that I truly wondered if my own heart and spirit would ever heal … I soon learned that I could help myself best by helping others …”  Barbara Bush

Lastly, Scott and I want to send a big thank you to all of our family and friends who have stood beside us this past year.  We are thankful for the prayers, encouraging texts/messages, and support.  We continue to press forward, remembering to find JOY, share Emma’s story, and finding ways to give back.  So, feel free to share your favorite Emma memory below.  Those memories will bring us some much needed smiles and laughs.

God is good!  All the Time!  God is good!

Reflection

Reflection.

Reflection. The end of the year is often the time when people reflect. They reflect on the past year… it’s successes and it’s failures, it’s good times and it’s bad times and look ahead to what the future holds. As I reflect on 2017, my mind and my heart struggle to truly put into words what this last year has been like for our family. I am reminded of the good times. The experiences that we were able to have with Emma and the joy that so many of those experiences brought to our precious girl and in turn to Scott and I. 2017 brought immense physical and mental growth for our sweet girl.

We watched her take independent steps with her walker. Our hearts were filled with the upmost pride to see her take her walker and walk in the Red Balloon Run and Ride. I think we might have been the loudest people cheering that day. You see, her walking was no small feat. It was what doctors said would be an unconquerable milestone that with one strong-willed little girl, fabulous therapists, and persistence, she did it.

We witnessed our intelligent girl learn how to navigate her speaking assistive device. It brought such joy to her to order her own food at Sonic. Oh she was so proud of herself!  We saw her conquer spelling, reading, basic math, and witnessed her writing her name so beautifully.  A token that I was able to turn into a necklace that I wear almost daily.  

As I reflect back on the last year I can’t help but think about some of our adventures. Emma got to go to Fossil Rim to see the animals with her cousins, she got to make trips to Oklahoma to see family. She rode a four wheeler and paddle boat. 

But during this time of reflection, it’s not the big things, it’s the little things that flood my mind the most. The trips to Sonic every Friday after the weekly doctor appointments to get french fries, the endless readings of Pout Pout Fish and Frog on a Log, the dance parties to Pentatonix and Home Free and Hamilton, the interactions with her Grampa, her weekly homeschool, therapist and Nurse interactions, the nightly power wheels rides with her daddy, the open and shut the door game, silly hand, the Its Baby Big Mouth on YouTube, the kisses and the singing your special song every night with prayers as we tucked her in bed. Those are the reflections that fill my heart.

But I would be lying if I didn’t say that reflecting on this past year also included some very hard times. I don’t wish upon anyone in this world to have to experience what Scott and I had to experience, and yet I hear of families almost daily who lost a child to CHD.  There is absolutely no easy way to make the decisions that Scott and I had to make. Nothing that will bring you to your knees quicker than watching your child take their last breath. We could let those thoughts consume us and to be honest sometimes they do. Our hearts ache for her. Don’t get me wrong, it brings us the upmost comfort and peace to know where she is. To know that our precious girl who fought so hard in this life and overcame so many obstacles all while dealing with daily pain and struggles is no longer dealing with those same struggles; however, that doesn’t take away our pain. It makes our pain bearable.  It doesn’t take away the tears.  The truth is this….Scott and I choose to find JOY, amidst the pain and the loneliness.  The odds are when you see and when you talk to us about Emma, you won’t see tears, you will see a smile.  That doesn’t mean we aren’t grieving.  That doesn’t mean we don’t miss her terribly.   God gives us the strength to get out of bed each morning and face a new day. His unwavering love and comfort allows us to find joy even in the dark times. But it doesn’t take away the emptiness that our hearts feel and the hole that was left when she left. There are days where Scott and I are will hear a song or see a picture or find something of hers that automatically causes tears to fall from our eyes. There are days when I don’t really want to be around a lot of people, where it seems like everyone else’s world is continuing to turn and mine stopped. We don’t expect people to understand who haven’t gone through it. But know that sometimes Scott and I are smiling through incredible grief. We are attending events and going on with life even when we would rather be home just the two of us. Know that it’s not getting easier, and that forever we will miss her.

So as you reflect on this last year, do your best to find more joy than struggle. And, as you look forward to 2018 I would encourage you to find more opportunities for joy. When your kids are being total brats ;) remember how blessed you are to have them and hug them a little tighter. Find time to give back to others, spend more time laughing, and remember why we have the ability to get up each day. Scott and I are 100% convinced that we are able to face each new day because we have a God who has a plan that is bigger than the heartache that we are feeling right now. And if you see Scott and I, don’t be afraid to talk to us about Emma. You see we had the honor to be her mom and dad for 6 1/2 years. The memories we made with her and the relationships formed because of her will forever be a part of us.  We love hearing your Emma memories and we love getting to hear about the impact she made.

As you reflect on 2017 and move into 2018, remember God is good. All the time. God is good. If you are having problems believing how we can feel that way, feel free to talk to Scott and I.  We would love to tell you why we believe that with every fiber of our being.

We leave you with this last question: Are you finding JOY in the Journey? 

Quick Recap

I know...I know....I've been a huge slacker on the blog.  I would try to come up with some sort of witty excuse, but let's be real, life has just been busy.  So, let's do a quick recap of the last few months.  

January and February were relatively quiet months for our family.  The biggest thing we dealt with was reoccurring pink eye.  We enjoyed time at home doing the regular day-to-day activities.  We had our family pictures taken as well.

March brought about a fun field trip for Miss Emma.  When her cousins were on spring break, Gramma took all of us to Fossil Rim to see the animals.  We got there bright and early in the morning when all of the animals were hungry.  We all enjoyed the little trip and Emma really liked seeing the animals up close.

April was a more difficult month for Emma.  She woke up one morning with a diaper full of blood.  😬.  That landed us an automatic admission into hotel Children's.  She was diagnosed with c-diff and was in the hospital through Easter.  We made the most of our admission and even fit an egg hunt on Easter.  April also was full of fun hospital events.  The annual Heart Center picnic was at the first of April and CMC's Red Balloon Run and Ride was at the end of April.  Emma met a big milestone and walked with her walker in the fun run.  We were all so very proud of her.

May was another interesting medical for month for Emma.  We had several issues with her Picc line.  Her Picc line that was a year and a half ind cracked, so we had to get it replaced.  The replacement failed and we had to get it replaced again.  Quite the roller coaster ride for a few weeks.  Emma also had an issue with hypernatremia that landed us in the hospital for a weekend.  We did get to do a few fun things including a trip to see Lion King the musical and family time in Ada

June has started with a bang.  Due to the regionalization of healthcare in Texas we are having to move into another county.  We put our house for sale a couple of weeks ago. It is under contract and we are under contract on a house in Collin County.  During the house showing process, we made lots of trips to Sonic while people are looking at our house.  Emma loved getting to feed Max French fries. Needless to say, the next couple of months are going to be busy.  We are excited about our next adventures.  

Thank you for hanging in through this long overdue update.  We continue to press forward with Emma's healthcare.  We monitor her heart failure and make regular adjustments to several medications.  She is a trooper through it all and keeps us on our toes.  

God is good!  All the time!  God is good! L 

Sent from my iPhone

Sent from my iPhone

New Year

 

Well, once again, it has been awhile since I have updated the blog.  I could blame a busy couple of months, the holiday season, or maybe just maybe I forgot…I’ll let you guess.  The last couple of months have been filled with many wonderful memories/moments and a month long hospital stay.  The later was quite an event.  

Emma entered the hospital at the end of November with a UTI that caused her to run a very high fever. This landed us in the hospital for IV antibiotics and observation for hydration issues.  Unfortunately, she became very dehydrated due to her high fever, so we had to hold her diuretics which aid in keeping fluid off of her lungs and abdomen.  She did not tolerate the diuretic hold well and needed extra respiratory support as well as a closer eye on her kidney numbers, so we were transferred to the Cardiac ICU.  She remained in the cardiac ICU for a few eventful weeks.  We increased her heart failure meds to try to help her kidney function and increasing abdominal girth; however, her belly kept getting bigger and her kidney numbers were worsening significantly.  Scott and I were beginning to get frustrated.  No one had answers and Emma was getting worse by the day. Her belly got so big that she was having trouble breathing.  We ran countless tests and kept hitting a wall.  It always hurts my mom heart when Emma is hurting and no one can find answers.  Scott and I truly felt we were dealing with fluid in her abdomen even though the tests were not showing it.  Our suspicions were finally confirmed….almost 2 pounds later.  We had a drain inserted into her abdomen and drained almost 2 liters of fluid.  The fluid in her abdomen was fatty in nature, so we have switched her to a fat free formula.  Draining the fluid in combination with the formula seemed to do the trick.  So after four weeks we were discharged home.    

 

Now for the fun news….

We were able to make it home in time for Christmas which was a wonderful surprise.  We actually made it home the day before I graduated from UNT with my PhD.  We got settled in and tried to regain some sort of normalcy after a month in the hospital.  Emma came home on her increased heart failure medication and a new formula, but otherwise was on a pretty similar routine.

     

We began our holiday celebrations by having “Friendsmas” with the Lawry family.  This is a tradition we look forward to each year.  Lots of laughs were shared, good food was consumed, and card games were played.   We were able to celebrate Christmas at home with just the three of us…oh and Max.  We had a nice relaxing day together and Emma was very excited about her gift….a musical fan.  Scott and I took turns attending worship Sunday morning and opened gifts Sunday afternoon with Emma.  We took Emma to see Christmas lights that evening (not her favorite activity) and ended the evening singing and dancing to Emma’s new musical fan.  We traveled to Oklahoma on Monday for Christmas with the Estes family.  It was a quick but fun visit.  Emma enjoyed the time with her aunt, uncles, cousins, and Gramma and Grampa.  

After all of the holiday excitement, we have tried to get back into some sort of schedule.  Emma has started back all of her therapies and school.  We go to the cardiologist once a week for PICC line care and labs.  

We are enjoying having a happy girl back in the house.  She is back to working hard in her therapies and learning more every day.  She got a new sanding frame and SMOs to help her strengthen her legs and have more ability crawl around and attempt to stand. One of her new goals is to communicate more effectively with her communication device, so we are using that daily to get her to tell us her needs and wants.  Most of the requests include: I want IPAD, I want French fries, and I want music.

 

Thank you all again for the prayers, support, and encouragement.  We have been greatly blessed by all of the people who send cards, food, take care of our dog, etc. to make sure we have little worries outside of caring for our daughter when she is hospitalized.  We could never thank you enough.

Remember, February is right around the corner which means CHD Awareness Week activities. J  Get ready to wear red.

God is good!  All the Time!  God is good!  

But If Not (words from my heart and birthday pics)

But if not… I recently read a book called  Fight Back with Joy. And in the book, the author describes times in your life when you are asking, praying or even begging God to work a certain way in your life and yet God chooses not to work that way. For example I pray that Emma's heart will heal, and no longer be in heart failure, but if not… how will I respond to that answer?  This statement, and the answer to it has been weighing on my heart lately so I thought I would just take a few moments and write from my heart. 

Scott and I close all of our blog posts with the phrase: God is good. All the time. God is good. We truly believe that this statement (I mean our faithful God) has aided us in many valleys over the past six years.  There have been countless moments that I have felt angry, lonely, depressed, sad, and unsure.  Without the knowledge of Who our God is and how He walks beside us everyday, I have no idea how we would get thru this journey.  Our journey has been filled with countless "but if nots"   It would be easy to feel forgotten or neglected; however, we seen those "but if nots" turned into beautiful blessings (maybe not right away...but in time). “But I will hope continually and will praise you yet more and more.” Psalm 71:14

 I was driving home from a meeting the other day and a song came on the radio that described so many emotions I have felt over the last six years.   In the words of the song, by Hillary Scott, there is a reminder of Who is in control and Who is walking beside us:"Sometimes I got to stop and remember you are God and I am not, so thy will be done."  There have been many instances over the last six years in which I have questioned God's plan.  Why should Emma have to suffer so much?  Why can't she get to experience more normalcy?  Why must she endure heart failure with no options?  Why must she have so many medical/ developmental difficulties?  He tells us in Romans 12:12 to: “Rejoice in hope, be patient in tribulation, be constant in prayer.”  I am to fully trust in his plan...let go of my worry...and rest in the truth that He is in control.  This is easier said than done unfortunately.  This last month has been filled with many unexpected set backs and disappointments.  I have been living in a fairly constant state of exhaustion which allows for doubt and worry to creep in and consume my mind.  Don't get me wrong, I have so much to be thankful for; however, I'm human and disappointment is a very real thing.  We are working on hospital stay 2 in less than a month.  Once, for a nasty respiratory virus and currently for abdominal edema and low diuretic response.  The first hospital stay directly impacted Emma's birthday party and this stay successfully cancelled a much needed family vacation.  

Let's go back to that "but if not.." statement.  I pray that we can soon figure out these latest medical issues of Emma's and go home...but if not, I will continue to trust in God's plan and work to see the good he weaving into our journey.  "⁴ Rejoice in the Lord always; again I will say, rejoice. ⁵ Let your reasonableness^[a] be known to everyone. The Lord is at hand; ⁶ do not be anxious about anything, but in everything by prayer and supplication with thanksgiving let your requests be made known to God. ⁷ And the peace of God, which surpasses all understanding, will guard your hearts and your minds in Christ Jesus."Philippians 4:4-7 Thank you to each and everyone of you who have encouraged us in this journey and prayed for us during the "but if nots".   God is Good!  All the Time!  God is Good!

Enjoy some fun pictures of Emma from her belated birthday party and current hospital stay.      

Getting Everyone Caught Up

Wow! It has been a long time since I have updated the blog. I will apologize for being negligent; however, we have truly been enjoying life with Miss Emma and for that I will not apologize. :) There have been some events in her life since my last post that I will discuss and fill you in on the last few months in this blog post.

Emma had a couple of event in June and July that sent her to the hospital for a few days. While Scott and I attended a pharmacy conference in Arizona at the end of May into June, Emma contracted a respiratory illness. When we returned from that event Emma's respiratory virus that progressively worsened. The virus landed us in the cardiac ICU for several days and then on the cardiac floor for a few days with the need for increased respiratory support and meds.  This trip turned out to be a blessing in disguise and I will explain that later.

Emma was also admitted to the intensive care unit in July for cardiac arrhythmia issues. Her heart was beating way too fast which is called atrial tachycardia. It would then go into heart block which would slow it down way too much. So we were in the hospital for a few days to administer a new medication to help her heart return to normal rhythm. 


So back to that blessing in disguise. When Emma was impatient with her respiratory virus, she was put on a steroid to help with her lungs. While she was on that steroid, we noticed that her abdominal ascites was lessened, she had more energy, and her meds worked better. After discharging from the hospital, we conferenced with her cardiologist, pediatrician, and gastroenterologist. Well, they all agreed that none of this makes perfect sense, but we all agreed that it was worth a shot to try a longer-term steroid regimen to see if it would be beneficial. Whether it is pure coincidence or her steroid actually working, since she has been on the new medication, her belly has stayed small, we've lowered her diuretics, she has way more energy, she is wanting to try more things in physical therapy, and her heart failure number has improved. While we are still very new in this experiment, we are excited with the potential possibilities.

So what is our family been up to.  We have truly been living, staying busy, and enjoying Emma's newfound energy. We continue to see the cardiologist weekly to monitor her blood work and maintain her PICC line.  She has continued to see her physical therapist, occupational therapist, and speech therapist over the summer and makes improvements weekly with each of them.

We took a family vacation to Lake Texoma for our annual family reunion. It was extremely hot but Emma enjoyed the parts of being in the air-conditioned building LOL.  She enjoyed being with her family and Scott and I enjoyed getting to do some things we love like fishing, waterskiing, and tubing.

Scott and I took a little celebratory trip with some friends in July. We took a cruise to Key West and the Bahamas. It was a very relaxing time with great friends… We ate a lot of food, laughed a lot, soaked up some sun, rode horses, kayaked, and Segwayed.

We are now back into the swing of things. Emma started school this week which will add to her normal routine of all of her therapy visits.  She is actively getting on her hands and knees and trying to crawl, standing for short periods of time unassisted, spelling words, simple addition and subtraction, reading comprehension, and so much more.  She is loving time with her friends, family, nurses, and of course her mommy and daddy.

I wish I could say that I have a lot more free time now that my dissertation is complete; however, I seem to find ways to fill that up. I will be teaching Wednesday night Bible class with my friend Whitney and I'm still working with Mended Little Hearts of Dallas.  I am; however, enjoying being more involved in Emma's daily schedule.  Scott is staying busy with work as well as volunteering in several areas at our congregation.  

Thank you again for being patient with us as we strive to live our normal and enjoy every moment with our sassy girl.

God is Good!  All the Time!  God is Good!

Memorial Day muddin'

All smiles at her dr appt

Respiratory illness=no fun

4th of July with Nana Jana

Family fun.

Reunion fun 

Cruisin'

First day of school

Sweet kiddos at school

Cardio checkup 

The missing puzzle piece

For the past five years it has been overwhelmingly obvious that there is a missing puzzle piece in Emma's medical diagnosis.  A few months ago we submitted a whole genome sequencing for genetic testing. This included my blood, Scott's blood, and Emma's blood.  Last week I received a call from the genetics department at children's medical center in Dallas. The results were back from Emma's genetic testing and the results were that Emma has an abnormality on arid 1B gene.  This syndrome that is associated with this abnormality is called Coffin-Siris syndrome.  When the genetics doctor was reading the list of issues associated with this syndrome it was like she was describing Emma.  Here's where it gets even more intriguing, according to the National Institute of Health, there have only been approximately 140 cases of this syndrome. That's right, Emma is one of approximately 140 people to ever be diagnosed with the syndrome.  

Here is a brief synopsis of medical issues typically associated with CSS:

Signs & Symptoms

CSS is characterized by distinctive abnormalities of the head and facial (craniofacial) region with affected individuals often described as having coarse facial features that become more prominent with age. Affected individuals may have an unusually small head (microcephaly); a wide mouth with full, prominent lips; a broad nasal tip; a low nasal bridge; and an abnormally long vertical groove between the nose and the upper lip (philtrum). Additional features may include thick eyebrows, long eyelashes, and generalized excessive hair growth (hypertrichosis) with the exception of the scalp hair, which tends to be relatively sparse (scalp hypotrichosis). Reports suggest that sparse scalp hair improves with age.

Individuals with CSS also have characteristic skeletal abnormalities. For example, certain fingers and toes (digits), particularly the fifth fingers (“pinkies”) and toes, may be unusually short due to absence or underdevelopment (hypoplasia) of the end bones (terminal phalanges) within these digits. The fingernails and toenails may also be underdeveloped or absent. Additional abnormalities may include dislocation of the inner forearm bone (radius) at the elbow, deformity of the hip (coxa valga), or unusually small or absent knee caps (patellae).

Early in life, infants with CSS typically experience feeding difficulties, vomiting, slow growth and weight gain (failure to thrive) which may have begun while the infant was still in the womb (intrauterine growth retardation), and frequent respiratory infections. In addition, affected infants and children may have hypotonia, abnormally loose joints, delayed bone age (2 to 3 years behind the chronological age), and mild to severe intellectual disability. Affected infants and children may also have mild to severe speech delays, where expressive language is affected more severely than receptive language, as well as moderate to severe delays in motor skills such as sitting and walking. Reports suggest that on average, affected children learn to sit up at 12 months (typically occurs at 6 to 8 months), walk at 30 months (typically occurs at 9 to 18 months), and speak at 24 months (typically begins around 12 months).

Affected individuals may also have eye (opthamologic) abnormalities. This can include drooping of the upper eyelid (ptosis), clouding of the lens of the eye (cataracts), and misalignment of the eyes (strabismus, commonly known as “lazy eye”).

CSS has been reported to manifest kidney (renal) or genitourinary abnormalities in some affected individuals. There have been reports of affected individuals with fused kidneys at the lower end (horseshoe kidney) and the urethra – .

Individuals with CSS may also have gastric abnormalities which may include one portion of the bowel sliding into the next like a telescope (intussusception) or an opening in the diaphragm allowing abdominal organs to push up into the chest cavity (diaphragmatic hernia).

Less commonly, affected individuals may have additional physical abnormalities, such as choanal atresia, a malformation in which a bony or thin layer of tissue blocks the passageway between the nose and throat, leading to breathing difficulties. Some individuals with CSS may also have heart abnormalities at birth. In addition, a brain abnormality known as Dandy-Walker malformation has been reported in some cases. This condition is characterized by cystic malformation and expansion of one of the cavities in the brain (fourth ventricle). Dandy-Walker malformation is usually associated with an abnormal accumulation of cerebrospinal fluid (CSF) in the skull (hydrocephalus), resulting in increased fluid pressure, a rapid increase in head size, abnormal prominence of the back region of the head (occiput), and/or other associated findings. Some individuals with CSS may also have partial or complete absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis of the corpus callosum) and fewer folds in their brain (gyral simplification). Some affected individuals may also experience hearing loss, seizures and tics. There have been reports of liver cancer (hepatoblastoma) in affected individuals, but the link between CSS and tumor risk needs to be further investigated.

                           (National Institute of Health)

When I received the news from our genetics team, I felt this overwhelming since of relief....this doesn't change Emma's prognosis, but perhaps it will help us better understand how to better care for her.  I'm honestly glad we didn't know five years ago. I'm not sure what the medical team would've done or not done.  Since this is such a rare genetic abnormality, little is known which makes it difficult. 

You see, what's hard is that we have had phenomenal care over the past six years.  Surgeons, doctors, nurses, respiratory therapists, and other medical professionals have worked tirelessly to try to figure Emma out, scratched their heads at her body's responses to surgeries, meds, procedures, etc.  They have consulted other doctors, experimented on her, went against the norms, etc.  It has been frustrating for both them and Scott and I to watch her struggle and reject what should work.  Maybe, just maybe we were/are fighting something that is fighting harder back, creating obstacles that haven't been figured out yet, and adding extra stress on Emma's body.  

I don't want Emma to be one of 140 people in the world; I don't want every aspect of Emma's life to be so incredibly hard; I don't want her to stump all the doctors, I don't want her to not have any more surgical/transplant options; however, that is our life....our obstacles.....our blessings in disguise.

Emma will not be defined by statistics....by what ifs.....You see, Emma knows no different.  She is surrounded by family and friends who love her for WHO she is.  We have never underestimated her...more importantly, we have never underestimate God.  Our God is bigger...no matter the Earthly outcome.  We know.   Our faith gets us up in morning to continue living, loving, and being a light for HIM! 

Thank you for the continued prayers, love, and support.  Enjoy some pics of our sweet sassy girl loving life!

God is good!  All the time!  God is good!

Sarah 

Weekly cardio visit 

Wagon fun

Uncle Caleb is silly 

Easter Egg Hunt with the Cousins

Fun with PaPa and Nana

Fun with the Estes crew

Easter Beauty

Best Buds

Heart Center Picnic Fun

Family Fun

Family Pics by Rustic Images

Cousin Rhett being a big helper!