Sunday, April 10, 2016

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 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 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!


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! 

Monday, February 15, 2016

CHD Awareness Photo Challenge Days 1-15

 I have not shared anything on the blog for CHD awareness week like I normally do.  However, I wanted to share a challenge that I'm participating in during February.  Each day has a different theme that deals with an aspect of congenital heart defect awareness. I have included days 1 through 15 in this blog.  Thank you again for always supporting our sweet little heart hero. This is a special time for us and we work diligently to try to educate others on what it is like to live with a CHD.
CHD awareness month is here, so I will be participating in a daily awareness photo.  Day 1: diagnosis....Emma was diagnosed at 19 weeks prenatal with a severe congenital heart defect.  We would learn a few weeks later that the defect was Hypoplastic Left Heart Syndrome with intact atrial septum. I encourage all expectant mothers to ask about the heart during their anatomical ultrasound.  There are over 40 types of CHDs. Early diagnosis helps to save lives. ❤️

CHD Awareness Month Photo Challenge Day 2: Surgeries/Meds/Interventions: These five photos represent the five open heart surgeries Emma has fought through. #chdwarrior #mendedlittlehearts #chdawareness #RockYourScar #HLHS

CHD Photo Challenge Day 3: Family: We are truly blessed with supportive Family and friends who are like family. Scott and I truly do not know what we would do without their encouragement, love, and unwavering support.

Day 4: CHD awareness photo challenge: Hospital: Emma has been treated at both Children's Medical Center (Children's Health) in Dallas and Boston Children's Hospital in Boston.  The hospitals varied greatly in their structure and organization; however, what was not different was the care, love, and heart put into taking care of our precious Emma.  #chdawareness #cmc #bch

CHD Awareness Month Photo Challenge Day 5: Cardiologist:  Dr. Lemler has literally been with us since before Emma was born.  He has been with us during extremely hard decisions, sat at the hospital with us in the middle of the night during our hardest moments, celebrated with us during unexpected successes, come to our rescue more than once during inpatient stays and ER visits, answered panicked phone calls, and supported us throughout all of Emma's ups and downs.  We give each other a hard time, but we are honored to have him manage Emma's care. #chdaware #HLHS #cardiologist

CHD Awareness Photo Day 6: Hope: I could go on and on about hope, but I will just leave this here. We continue to hold on to hope and trust in God's plan for our tough little girl who was born with half a heart. #CHDaware #HLHS

CHD Awareness Photo Day 7: Red and Blue: What does red and blue mean to me? The diagram on the left shows Emma's heart defect at the different stages of palliation. Notice how the red (or oxygenated blood) and blue (unoxygenated blood) mix.  This causes Emma's  lower oxygen saturation levels which makes her appear blue. Red and blue are also the colors we use to represent congenital heart defect awareness. #chdaware #HLHS #hearthero

CHD Awareness Photo Day 8: CHD Facts: My Emma is 1 in 110....Are you CHD aware?  Every 15 mins a child is born with a CHD.  #chdaware #HLHS

CHD Awareness Photo Day 9: Awareness:  I am a coordinator for a group called Mended Little Hearts of Dallas.  I do this to share hope, education, support, and awareness.  Emma is the reason I am so passionate about the work I do.  #chdaware #HLHS #mendedlittlehearts #RockYourScar

CHD Awareness Week Day 10:  #RememberOurHearts #CHDaware

CHD Awareness Photo Day 11: Favorite Quotes!  I have so many, but here are a couple. ❤️❤️❤️

CHD Photo Challenge Day 12: What I wish people knew: I wish people knew that CHDs impact more of a child's life than simply their heart. Due to Emma's CHD, she is challenged every day with developmental delays and other organ issues.  Also, I get asked frequently if Emma's heart is fixed. There is not a cure for her CHD.

CHD Awareness Photo Day 13: Heart Family: Being the parents of a child with a congenital heart defect can feel very lonely; however, meeting many other heart families along the way, whether in person or through social media, living next-door to them in the hospital or meeting them at a heart event gives you someone to relate to, vent to, cry with, and celebrate with. #CHDaware #heartfamily #mlh

CHD Photo Challenge Day 14: Heart: When most people think of Valentine's Day , they think of hearts and love.  Don't get me wrong, the 14th of February makes me think of love and hearts and red and pink; however, since 10/4/10 when I think of hearts, I think of my half a heart hero.  Her heart is shown in the top picture.

CHD Photo Awareness Day 15: Nurses:  we have been very blessed with caring, loving, and attentive nurses from the beginning. From our nurses at CMC to our nurses at Boston and home, Emma has been surrounded by amazing advocates that aid in her care.  I don't have pictures of everyone, but please know that we are so thankful for all of her nurses who worked tirelessly to help Emma get to where she is today.

Emma is doing well. She is very busy in her therapies and school. We continue to travel to the cardiologist every week for her PICC line care and lab monitoring.  Thank you for your continued prayers and thoughts.

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

Thursday, December 3, 2015

We're Back!! 😉

Hello faithful blog followers. I want to once again begin by apologizing. I have been more then a little delinquent in keeping up with the blog over the past several months. In part it's been because we've been busy; and also because I'm in a time crunch with my dissertation; and also because we're living life which is something we really didn't get to do for the better of eight months.  

In October, I did sit down and do a brief medical update and a fun birthday post; however, that post got lost after I had spent hours of writing a clever poem about the last five years of Emma's life (I know, save save save) Anyways, I never got back around to finishing or publishing those posts, so today I will do my best to update you on the last several months in a fun post and then do a post about her medical issues.

In September, Emma was asked to be a part of an event called the Portrait Project. This event raises awareness for children fighting big battles. Emma had her picture taken by a professional photographer and unveiled it at an event in Dallas. The event raised money for the cancer center at Children's Health in Dallas. We were honored to be asked to be a part of the event and the portrait that was taken was beautiful.

Emma started the month of October with the bang.  Her PICC line broke and she was admitted to the hospital a few days before her birthday to get a new one placed. The team worked tirelessly to get her out before her birthday party and we arrived home just a few hours before the fun began. Being the big five-year-old girl that she is, Emma is getting to make a lot of decisions. She told me that this year she wanted a monkey and alligator birthday party. While this may seem strange to some, feel free to YouTube "five little monkeys swinging in the tree," and you will see why Emma's favorite song became the theme for her birthday party. Emma was surrounded by family and friends on that day and had a good time despite being sleep deprived and sore from a recent procedure and hospital stay. 

We are so blessed to celebrate another birthday with Emma. I challenge all of my mom friends out there to not be sad about milestones and birthdays. So many of my friends in the heart community would give almost anything to be able to celebrate another milestone or birthday with their little one. For this reason and many many more, we are joyful for each milestone and birthday that we get to experience with our little sunshine.

October brought about many more fun activities as well. We had or annual Mended Little Hearts of Dallas pumpkin patch event. It was an unseasonably warm day, so Emma wasn't quite content with being out for the event in the hot sun.  But it was a great turnout and we enjoyed continuing to support and encourage heart families in the DFW area.

We also took a much-needed family vacation. We took our camper to Lake Texoma for a week.  Gramma and Grampa took their trailer as well and we enjoyed a relaxing vacation in the summer-like temperatures. Grampa, Gramma, and I all got to waterski on a 90 degree October day. We went on boat rides, attempted to go fishing, took walks around the park, watched Max and Gramp play with the remote control boat, had friends come down and play one day, and just enjoyed being together.

Emma also got to choose what she wanted to dress up as for Halloween. She decided she wanted to be a monkey and she wanted Max to be an alligator. Halloween is also daddy's birthday, so we enjoyed celebrating Scott's birthday when he got back from a business trip that day.  Emma really second-guessed her choice of being a monkey because she hated having to wear the head piece.  Check out the hilarious the tips for pictures with these two crazy zoo animals.

November has been pretty busy yet normal for us. I'll detail how our week typically goes. On Monday and Wednesday she sees physical therapy, homebound school, and speech therapy.  On Tuesdays and Thursdays, she has school with mommy and Lorelei and occupational therapy. Fridays are typically an early morning  cardiology appointment to check labs and change her PICC line dressing in cap.

We traveled to Oklahoma for Thanksgiving. We spent some time with my Gerth grandparents and Scott's side of the family. We enjoyed some yummy breakfast made by my MawMaw and delicious lunch made by my mother-in-law and sister-in-law.  It was a short but sweet trip and we loved spending time with family.

So what have Scott and I've been up to? I have been diligently working on my dissertation. I got some news at the beginning of this Fall semester that has really lit a fire under me to get my dissertation done by the end of the spring or beginning of the summer semester.  So, I am spending a lot of my extra time and late nights working on analyzing data and writing my last two chapters. I am also continuing with my volunteer position with Mended Little Hearts to Dallas. This is something that I really enjoy doing.  I've always hoped and prayed that my experience with Emma can make a difference. Speaking of Mended Little Hearts of Dallas, during this time of the year when we're looking to fill our stockings and trees with presents. I come to you and ask that if you're looking for a way to give back to some families that may be spending their Christmas in the hospital consider visiting and donate via PayPal so that we can provide comfort and care items to these families while they're in the hospital.

Scott has been very busy with work. October had him going to Washington DC and Las Vegas. November has seen an increase in nursing home facilities in the state of Texas,  so he has been busy getting those implemented.  Scott has also volunteered as one of our Bible class leaders, co leader for our life group, and  is working with the Thrive campaign at our congregation to help provide food to those in Low socioeconomic locations in McKinney. I am so proud of how hard he works for us and those in the community.

As you can see, we have been a very busy family over the last few months. It is a good busy, it is back to some sort of sense of normal. Don't get me wrong, there is always her heart failure. It affects us on a daily basis. Her body does not have normal stamina, and there are days when she is completely worn out; however, her endurance and will to keep living inspires me daily. Speaking of will, this kid is one hard headed/stubborn little girl. Please don't ask me where she gets it from LOL. Emma has decided that she's just not going to participate in activities. One day she had to go to timeout five times in the period of an hour for not finding five things in her sensory tub. It is not uncommon for this little one to get multiple things taken away from her on a daily basis. I love her fight but she knows better and has to learn how to obey as well.  She keeps us on our toes for sure.  We are looking forward to the holiday season.  We have a lot of fun family activities and mommy school activities planned.  Thank you for continuing to pray for our sweet girl.  We cannot thank you enough for the love and encouragement.  God is good!  All the time!  God is good!