Gracyn’s Story

My daughter Gracyn was born August 11, 2014. We knew something wasn’t going to be right from the time I was 16 weeks pregnant, the perinatologist told us that she had a bright spot on her heart, which was an indicator for Down Syndrome. We went forward with Harmony testing to see if any syndromes showed up, it came back negative.

At my 20 week appointment Gracyn’s ventricles in her brain were severely enlarged, the doctor told me she had aqueductal stenosis and possibly hydrocephalus. I was monitored closely throughout my pregnancy and by the end, her hydrocephalus was downgraded to mild ventriculomegaly. I was induced, just to be prepared for whatever could be, she was 6lbs11oz and her birth was uneventful. They performed an ultrasound of her brain before we left the hospital and said that her ventricles were moderately enlarged.

We took our newborn princess home and she was adored by her two older brothers Gavin who was 14 at the time and Garrett who was 10 at the time. She was jaundice, so we took trips back and forth to the hospital and doctor to check her levels. I knew something was different, but I just tried to get used to being a mom of a baby again. At two months old, her pediatrician ordered a follow up ultrasound of her brain. The day after her ultrasound they called and wanted us to do an MRI, little did I know at the time they thought she did not have a corpus callosum. They ended up saying she had moderate ventriculomegaly and a very thin corpus callosum. We were referred to a neurologist and a neurosurgeon at this time. The neurosurgeon decided to do a sedated MRI around 7 months old, her ventricles were large but stable.

When Gracyn was eight months old, we started with a new neurologist, he found several genetic markers. He ordered a microarray and several other tests, at the time I had no idea what any of it meant. When I received the call, my heart went to my stomach as he let me know that my daughter has a chromosome translocation 18p-20p+, he referred us to Emory Genetics to find out everything we could about our sweet baby. Emory could not tell us much because Gracyn is “one of a kind”.

I have since found five other people on my own with the same translocation, but their breaks in the chromosomes are different and so are several of their symptoms. I remember having thoughts such as, “What did I do to cause this to happen to her?”, and “My daughter does not deserve all of this madness!”. Sometime in the midst of the fog we had entered as a family, she started to receive physical therapy, this is when you wake up and realize how far behind in milestones your child truly is. She could not sit on her own, her head had tilted so much that her left cheek was fuller and her features were drifting with the tilt. She had to go to an ENT around 11 months old, who recommended tubes, but also discovered that she has a bifid uvula and a submucous cleft palate. I have changed doctors and therapists when something hasn’t felt right, making sure she has the best care possible, has become my goal for her.

Life has continued as normal as possible since we have found out everything. My boys have still been able to play sports and do activities, we take vacations and do day trips. The boys are 17 and 13 and Gracyn will be three in August, my oldest son will be a senior this year and I homeschool my middle child. I am also trying to get Gracyn into the special needs Pre-k program in our county. We see a team of seven doctors and five different therapist. Gracyn’s diagnosis’ are: 18p-20p+ translocation that causes (idiopathic) non-pressure hydrocephalus, thin corpus callosum, rotated hippocampus, submucous cleft palate, hypotonia, dysphagia, and global developmental delays. But all of those are just words, our pediatrician of 17 years told me,” just don’t hold her back”, so I don’t. I push her as hard as she will let me to meet her goals and still have fun.

Our lives are not over since we had our special princess, they are just different. She makes me a better person, a more patient person, a person who will stop now to admire a rock or a flower. I love getting to see the world through her innocent eyes. My sweet Gracyn is climbing mountains daily, and I am so thankful that I was chosen to hold her hand all the way to the top.