Athena's
Story

To start Athena's story, she was first diagnosed with intracranial abnormalities in utero, during my first anatomy scan. Once I had reviewed these results online, I had brought it to the attention of my nurse practitioner. But I was told that it was possibly her position during the scan, and a second scan would be performed. A few weeks later, the second scan showed the same results, but none of my care changed. As a first-time mother on the younger side, I made the assumption that if something was truly wrong, my OB would tell me. But as my pregnancy progressed, my doctors ultimately failed to provide me the proper care, and I continued assuming that my daughter was developing normally. It wasn't until I was 32 weeks that I was quietly referred to Maternal Fetal Medicine, a week before a regular sonogram appointment, with no explanation. At that point, I knew that something was wrong. Unfortunately, I couldn't be seen by MFM for another 4 weeks, and I would be 36 weeks along by that time. The day of the appointment came, and I just knew in my gut what direction this appointment was going. The doctor looked over to me after completing the scan and I was told my daughter had Ventriculomegaly, which is enlargement of the ventricles in her brain. Ventricles are reservoirs in your brain where cerebrospinal fluid is produced and stored. The enlarged ventricles had caused parts of her brain to be underdeveloped, and unable to be located at all. The outcome for a diagnosis like this is very bleak, some of them listed to me were: failure to feed, loss of fine and gross motor skills, loss of mobility, and ultimately our child would fail to thrive. I sobbed the entire walk through the hospital, and into my car. And from that point forward, we had to rethink every aspect of my pregnancy moving forward. We had to cement the details of what my delivery will look like, and make sure I would receive the proper care, and do it quickly. After attending consultations and speaking with several medical professionals in one week, we decided on The Children's Hospital of Philadelphia would take on my delivery and post-natal care. On December 17th, 2021, Athena was born. We spent two weeks in Philadelphia, as she was admitted into the NICU. During that time, genetic testing was performed. After passing her car seat test, she was discharged, and we were finally on our way home with our newborn baby. As the months progressed, we were set up with Early Intervention therapy, attended many specialist appointments, and we began to see that Athena was making much more progress than we were told to expect. She was still delayed, but we were able to give back the monitor, she became much more aware of her surroundings and showed interest in toys and people she knew. She was hitting some milestones, just at her own pace. We celebrated every success, big and small. In November of 2021, we finally received her genetic results. Her geneticist had explained she had two genetic disorders: TUBB3 and Hereditary Spastic Paraplegia. She did her best to explain to me in layman's terms what these diagnoses entail, and what they mean for Athena. Due to the limited information of TUBB3 online, it was quite hard to fully understand what TUBB3 is. It wasn't until we met with a neuro-geneticist, that it really made sense. She painted a clearer picture using the analogy of a railroad that exists inside your brain, and how TUBB3 affects that railroad. She gave us great suggestions on what we should be doing to promote good brain development and assured us we were doing all the right things for our daughter. As of now, Athena has been met with challenges but continues to thrive in her own ways. She has just turned two, and within those two years, she has achieved rolling over, sitting up unassisted, crawling, and feeding herself among many other successes. She has just learned to point, clap, and even do gestures while singing songs like Itsy Bitsy Spider. Some of her challenges include mobility, speech, and some motor skills. She hasn't begun walking yet but has shown more progress towards that goal with the help of a gait trainer and ankle braces. She says limited words and sounds, but she will be enrolled in speech therapy within the next month, and she uses some sign language that we have taught her. She has some difficulty with articulating her hands and fingers, so she does struggle with the pincher grasp and other motor skills. She does have some vision differences such as thin optic nerves and nystagmus, so she does wear glasses. She also has some sound sensitivity. Others coughing and sneezing around her seem to be the biggest triggers, but even some loud environments have upset her. We have enrolled her in daycare to gain social skills and learn from her peers, and she loves it. She enjoys watching Ms. Rachel, playing with common household items like pots and pans, unrolling toilet paper, and opening and closing every single (safe) cabinet and bedroom door in the house. She currently spends her days laying with her doggie friends and getting into literally everything in sight!