Our daughter was born happy and healthy!
Ciana (“CiCi”) is our first born child that we waited so long to have. We were instantly head over heels in love with her. She was already so aware and smiling on the day she was born…and our life was instantly complete.
She was delivered by cesarean section with Apgar scores of 3 and 9 and passed the newborn hearing test. CiCi ate well, slept through the night (most of the time), and was a happy baby!
As a nurse, I was diligent on making sure CiCi was reaching her growth milestones. I read all the new baby books front to back and did my research. When she was 3 months old, I started noticing that the back of her head was a little flat and that her head size was smaller than other babies her age. Many of my friends and I had babies around the same time (something was in the water at work that year) and I noticed CiCi wasn’t meeting some of the milestones other babies were meeting. I tried to not compare…but I couldn’t help it and I was getting worried.
CiCi’s first year of life was filled with a number of hospital tests including craniofacial CT, brain MRIs, Spine CT, blood work, mitochondrial testing, muscle biopsies, etc. At that time, CiCi’s only diagnosis was brachcephaly, microcephaly, developmental delay, and hypotonia. There was no genetic or mitochondrial disorder that was found with all the testing that was done. So, we provided the support she needed and were blessed to part of the Early Intervention (EI) program that came to our home every week to provide CiCi with physical therapy, speech therapy, play therapy, and occupational therapy. CiCi started wearing SMO’s to help provide her ankle support when she was learning to walk. She took her first steps wen she was 26 months old. Since CiCi was not babbling or speaking by the time she was 2 years old, we had her hearing evaluated and she had a mild sensorineural hearing loss. She wore bilateral hearing aides for a couple years until it was determined that the hearing aides were not necessary and her speech delay was more related to her cognitive delays and intellectual disability.
As the years progressed and she aged out of EI, CiCi attended great schools that provide her the support and education she needs to succeed. Through her IEP, she continues to receive the therapy and great education based on her abilities. Our insurance has also provided the additional support so that she can continue to strive.
In April 2016, we followed up with her Genetics physician and had Whole Exome Sequencing done. In July 2016 we received the results that determined she has a rare de novo MICPCH CASK Related Disorder. Since this is a relatively new disorder, there is not much research in the medical literature…but we hope future research will soon be available. After almost 10 years of searching for a reason behind her delays, it has actually been comforting to know that this disorder occurred spontaneously on its own. For years I didn’t know if it was something I did and wanted to blame myself. Was it because I traveled? Was it because I worked as an operating room nurse and exposed to radiation and chemicals? Was it because I ate that hot dog? De novo mutation is an alteration in a gene that occurs for the first time in one family member as a result of a mutation n a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself. My husband and I are not carriers of the CASK (p.R618x) gene.
We have our good days and our bad days. The running around between different therapies, wondering if what we are doing is enough to reach her full potential. It breaks my heart to hear her cry and trying to guess what she wants/needs/feels. To get letters of medical necessity, to constantly refill prescriptions, to talking with the insurance companies to determine coverage. To make sure my typically developing son also gets what he needs from us and to educate him on his sister. To make sure that as husband and wife we take time out for each other whenever we can. To finishing my MSN, to start a new position at work, and not to mention the house, laundry, and after school activities. I used to be OCD and on top of everything, now just choose what is the priority that needs to be done and pray that I didn’t forget anything. I love this life and I wouldn’t change a thing because she has taught me what is truly important in life. When I see her smile and laugh and see the sparkle in her eyes, I see an angel from God…and that’s why her name Ciana means “God is gracious” and her middle name is Angeline..out angel!
For the longest time, I thought God has chosen us to be parents of a special needs child because of something I could do for her I would think “It’s a good thing we are her parents because a lot of other parents may not fight this hard for their kids.” or “A lot of parents wouldn’t try so hard to educate themselves.” But then I realized that God didn’t choose us because of what we could do for her~ but what she could do for us. I have learned to lean on God—hard—to get us through the difficult days. I have learned to LOOK UP to God instead of looking at my circumstances. And I find that after all of the trials, year after year- month after month-and minute by minute, we have survived…and we will continue to survive. God has proven that He is faithful. That we can still laugh. We can still smile. We can see with our own eyes that life is precious and holy… when God is in control.
We are creating this blog for families who may be struggling with the same or similar diagnosis, for families and friends who want to be updated and for us to write about what we are going through. We hope this will be helpful all around.
What an incredible story. Thank you for sharing.