"We wouldn’t trade these last 21 years for anything!"
Ever since Baylee came in to this world 21 years ago, she has been one surprise after another. My pregnancy with her was uneventful until the last trimester. Around 34-35 weeks, an ultrasound revealed that she was small for her gestational age, was a breech presentation, had low amniotic fluid and wasn’t growing very well. Due to the stress of this news along with other factors- I ended up developing pre-eclampsia and it was decided that Baylee needed to enter this world at 35 ½ weeks gestation. Emergency C-section was performed and Baylee made her debut on August 8, 1997 weighing in at 4 lbs 4 oz and was 16 inches.
In the beginning, she had some problems regulating her blood sugars and was a tad jaundiced so she stayed in the NICU for a week until she could adapt better to the world. At this time, she was being dissected by all of the pediatricians due to her physical features of low set ears, wide spaced eyes, flattened nasal bridge and her small hands and feet. We attributed her physical features to looking like her dad’s side of the family but genetic testing was ordered. All of her genetic testing came back normal and Down syndrome was ruled out. She was eventually discharged home after a week hospitalization. During her routine newborn screening, she was diagnosed with hypothyroidism and was started on Synthroid around 6 weeks.
During her first 12 months- her pediatrician noticed that her head was growing at a quicker rate then the rest of her body. After seeing a neurologist to rule out hydrocephalus- he asked us if anyone had ever mentioned the possibility of Baylee having some type of a dwarfism. Looking at her physical features- everything was making sense at this point. Baylee was going to be a little person.
Due to her uniqueness- we were referred to the endocrinology department at Johns Hopkins when she was around 2 ½ years of age. At this time, more tests and genetic testing was done. We were told that they would continue to research Baylee’s blood over the years and if any mutations were observed, they would keep us informed. We received an email 12 years later that they had identified a gene mutation and that Baylee was positive for the
PRKAR1A/Acrodysostosis gene mutation.
During her early/preschool years, her motor and speech skills were a little delayed, but Baylee was happy, sassy and determined. She continued to develop and attend regular preschools. During her kindergarten year, we started to observe that not only was she smaller then her peers, she was struggling to keep up academically with her peers. Her special education goals/consults started at this time. Although Baylee’s cognitive skills plateaued during 1st or 2nd grade- she has always been very social and talkative. Presently, she might not be able to tell you what 2+2 is, but she can carry on a very engaging conversation with her witty personality.
When Baylee was around 3-4 years old, we started to see more specialists due to symptoms of repeated infections, lack of growth and pain with ambulation. Since early school age, Baylee has been on IGg replacement therapy due to hypogammaglobilinemia. She currently receives weekly infusion to maintain her immune system. Due to her high risk for infections and need for IV antibiotics over the years, she has developed kidney disease and is seen by a nephrologist to keep an eye on her kidney function.
Baylee has been seen by an endocrinologist since she was 2 months old. She does require lifelong Synthroid replacement and has developed hyperparathyroidism but maintaining normal calcium levels currently. During her school age years- she was started on growth hormone to stimulate growth due to her small stature- but this treatment was eventually stopped after couple of years due to lack of growth.
Orthopedic concerns have been Baylee’s biggest obstacle since she was 6 when we noticed that she was walking with a limp. She eventually required bilateral hip replacements when she was 14 due to necrotic dislocated hips as a result of a lack of blood supply to her femoral heads. Also, due to severe spinal stenosis and scoliosis, she had rod placement/fusion when she was 11. She has had several procedures on her spine due to stabilize her spine and to keep her upright and ambulatory as long as possible. Presently, Baylee is pain free- but is dependent on an electric wheelchair for distances. She is still able to ambulate within our home with a walker.
Due to her spine instability- she has developed spine/nerve damage. Over the last 2 years, a urologist was added to her specialty list due to neurogenic bladder. Recently, she underwent a medical procedure to create a catheter tunnel through her umbilicus to help with her need to catheterize her bladder 5-6x a day.
Baylee is also under the care of a hematologist due to multiple blood clotting disorders. During her early teenage years- she was found to have multiple blood clots throughout her body. After a lengthy hospital stay and multiple procedures- she was discharged home on lifelong blood thinners.
From reading above, you can tell that Baylee keeps us on our toes. She is definitely one in a million. Each day brings a new challenge. But the best characteristic about Baylee is that she is a happy/well-adjusted young adult. She’s the only person that I know that goes to bed with a smile on her face and then wakes up with the same smile. Not only has she taught the medical world a few things, but she has given so much back to her family and community with her happy go lucky personality. We wouldn’t trade these last 21 years for anything.