Thursday, July 19, 2018
Monday, January 1, 2018
Saturday, June 17, 2017
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
Tuesday, January 17, 2017
Friday, October 21, 2016
But If Not (words from my heart and birthday pics)
Sunday, August 28, 2016
Getting Everyone Caught Up
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.
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!
Sunday, April 10, 2016
The missing puzzle piece
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.