In early April of 2017 while trying to finish the last semester of my Associates Degree, we learned at a routine appointment with my obstetrician that our 2nd baby girl- whom we had already decided to name Addelyn- had developed enlarged ventricles with excess cerebral spinal fluid in the brain. This condition, called Hydrocephalus, we were taught by the O.B, often signals genetic disorders, such as Trisomy 13/18, are often considered non-viable with life so naturally we opted to do blood tests as well as an amniocentesis to perform multiple genetic tests. While the most general tests showed high risk factors of Trisomy 13, one test called “Micro-Array” genetic paneling, done on the amniotic fluid removed from my uterus, came back with an official and overall diagnosis.
It took a few weeks for results to come but 2 weeks before graduating from our local community college, we were sitting in chairs at the desk of our new specialized O. B. Doctor and we were feeling devastated as we listened to his small talk. All we really wanted to know (but in a way did not want to know) was if we’d need to begin planning for an infant’s funeral. Instead, he then told us that he knew nothing of the diagnosis, but that it was called Chromosomal 6q26q27 Terminal Deletion….. I know what you’re thinking: “Terminal? Noooooo!” our minds went there as well and it felt awful, until he clarified by sketching a pair of chromosomes to teach us that in this circumstance, as far as he knew, only and hopefully meant that the tail end of a chromosome arm was missing. He then expressed that he felt sorry for not knowing anything about Addelyn’s diagnosis, but he then encouraged us to decide where to deliver her since we couldn’t at our local hospital due to lack of resources and the distance from the children’s hospital where she’d potentially need transferred to. Although there were way too many unknowns, and despite our many questions, we went home with an overwhelming sense of peace. Two weeks later and MANY tearful and fearful all-nighters, graduation came and went, and we felt like we could no longer be undecided on our birth plans.
We collected all the research we could find and learned she potentially wouldn’t be able to eat or breathe on her own, and that she’d very likely need neurosurgery to have a draining option for her Hydrocephalus. Our little community and both sides of our families rallied around us to help with our oldest daughter during appointments, with fundraising for gas and food, to research alongside us, and to comfort us through prayers, meals, and more.
Fast forward the 3rd week of July, my mom, husband, and our oldest daughter drove me to my husband’s sister’s home where I stayed near where we decided to have the baby delivered while my mom, husband, and oldest daughter then drove back home- so that Reagan could continue working and my mom could take care of our girlie. My sister-in-law and her family kept me company and their adorable dog became my baby-watch buddy.
Around 1:00 o’clock in the morning on August second, I notified my mom that I was pretty sure they needed to quickly drive the three and a half hour drive to meet us at the hospital. They arrived two hours before our little Addelyn was born, at a whopping 8 lbs and 1.4 oz. She needed some help oxygenating as she came out quite purple and blue, but they let me hold her while Reagan cut her umbilical cord before they whisked her off to the NICU for safety and many tests. Reagan followed her to update my mom and I as needed.
By the grace of our Father in Heaven, a few hours after she was born we were told that her Hydrocephaluswas mild enough that she wouldn’t need neurosurgery, yet, but that she did need one simple and common surgery called ‘perineal anoplasty,’ which she underwent the next morning. Three days later we learned that she was also born with Degenesis of the Corpus Collosum, and a Congenital Heart Defect called a Ventral Septal Defect (a hole between the two lowest chambers in her heart). After a very trying and exhausting six days in the NICU, Addelyn was released from the hospital with a list of 12 different specialist doctors that we needed to take Addelyn to.
Over the next 3 months, Addelyn was diagnosed with multiple conditions such as Hyper-Mobility of her joints and muscles, Hip Dysplasia, opaqueness and narrowing/Atrophy of her Optic Nerves, global developmental delay, and more. At 4 months old and just before her first Christmas, Addy’s eyes began doing odd things which lead us to call her neuro team. Twelve hours later it was confirmed that she needed emergency neurosurgery to have a VP-Shunt put in her brain to help rain excess fluid off of her brain that had begun separating her cranial skull plates. We were blessed to spend her first Christmas at home, in safety.
One month later, Addelyn had what we thought was her first seizure while were prepping for her first cardiology appointment but instead ended up getting flown (her first airplane ride) to the children’s hospital where, after 8 more seizures and heavy sedation throughout that day, she was diagnosed with (what we later learn was categorized as Focal-Onset) Epilepsy.
In May of 2018 and at 9 months old, Addelyn received her first pair of eye glasses and 2 weeks later she underwent Open Heart Surgery to prepare her VSD with a pericardial patch. Her 4.5 hour-long surgery was so difficult to sit through but went fantastically despite then being diagnosed with Cardiomyopathy.
Fast forwarding again, but this time passing her finally learning to crawl, two eye surgeries to correct her strabismus, a few more hospital stays due to her epilepsy and a few respiratory infections, and 7 months of wearing ankle-foot-orthotic braces to help her walk with the correct stance; in July of 2020 Addelyn’s seizures had increased in frequency and intensity that on the 3rd of July, a month before her 3rd birthday, she underwent an Epileptic Seizure Focused Craniotomy surgery to reduce and hopefully stop her Epilepsy in it’s tracks. This craniotomy disconnected sections of 3 lobes in her brain. She woke with the ability to talk and only the ability to use the left side of her body, for which it took nearly two weeks of intense Inpatient Rehabilitative therapy and almost four months of outpatient therapies to return back to her baseline in speech, occupational, an physical abilities. From that point on she had a beautiful break of eight and a half months before catching a common cold virus brought her seizures back. She then had another 3 months of relief before having more seizures before and during a battle with another cold virus.
All throughout the difficult 4 years of her life, Addelyn has been a cuddly, happy, and smiley little girl who loves her sister more than anyone, and music more than anything. She has recently begun her second year of Preschool, has a gigantic heart full of love for her family, dogs, teachers, chicken nuggets, and the color pink. Though her epilepsy has come back, and despite having major visual processing delay, her heart and the rest of her body are the strongest they’ve been, and we are continuing to take her to her specialists, therapies, and the rest of her team who have become like family. We are extremely blessed to have this miraculous girl in our lives and even though it takes insane amounts of sleep deprivation and faith, we can’t wait to continue learning from her beautiful strength!