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I experienced a normal pregnancy and birth to my knowledge, but after less than 24 hours of life, Ruby’s and our lives were turned upside down. When my mom came to first visit us in the hospital, she knew right away from Ruby’s screeching cry that something was wrong. Hospital staff came to do their newborn assessment and told us she had hypertonic, jerky movements atypical for a newborn and a Sacral Dimple that raised concerns so she would be taken to the NICU for further monitoring. As new, first-time parents, our minds already began racing and worrying about what our future could look like- and then her seizure activity began.
Ruby continued to have epileptic episodes throughout the night and was placed on an EEG and oxygen by day 2 of life. After a scan, it was also discovered she had bleeding in the ventricles in her brain and the hospital could not pinpoint an explanation. Doctors immediately put her on anti-seizure medication, antibiotics, along with a steroid as an error of caution because they could not find a reason as to what was causing this. Phenobarbital, Keppra, Versed, Dilantin, Ampicillin, Gentamicin, Vancomycin, and prednisone were all given to her through PICC line in precaution and still the seizures could not be controlled. Two spinal taps showed abnormal results in her CSF so we were then told it is most likely that she has meningitis. Cerebral Palsy was even mentioned. We were also told we may never have an answer.
After 9 days at Methodist hospital, Ruby was transported to Nicu at Medical City of Dallas still in search of an answer. She was on an EEG for most of her life so far and started to develop sores from the leads glued to her head. All the medications kept her in a sleeping state almost all of the time. We celebrated the days we got to look in her eyes and promise we will figure it out. I felt robbed of my new mother experience because I had to wait days at a time to be able to hold her. She continued to be monitored by EEG and taking anticonvulsants as the seizure activity continued every day, multiple episodes at a time. The anticonvulsants eventually did nothing to prevent this. At exactly 2 weeks old, she convulsed for over 3 hours in her bed while we held her hands and watched in agony with tears. At some point, we were told we have to watch from afar, so the EEG team could see every detail happening with Ruby. It was heart wrenching to not be able to attempt to console her. Doctors put her into a medically induced coma for the next 3 days to prevent any further brain damage. I specifically remember being told her brain would further fry if not. I had never seen anything like that. It has left permanent damage to her brain and to our hearts. It was at this moment, I had never felt so helpless as her mother. How could nobody figure out what was wrong?
After 3 day intubation, Ruby was taken off support and Dr. Gerald So approached us with a diagnosis at 3 weeks old. After genetic testing results came back, it was determined Ruby has PDE and they were going to give her vitamin b6 for the first time. It felt instantaneous… everything stopped. By the very next day, she was getting her EEG leads taken off and the chaos and uncertainty of the last few weeks started to dissipate. It was the best birthday gift I could’ve ever hoped for. I had no idea what PDE was exactly yet, but to see Ruby back to a healthy state was all that mattered in the moment. We spent the rest of our time in the nicu trying to educate ourselves on PDE. After 37 days in the hospital, Ruby got to come home. Although this was a huge, happy, celebratory moment, it was just as equally paired with anxiety, fear, and uncertainty as there is not much information about PDE available. The relief from finally getting diagnosed was immeasurable.. yet the loneliness and fear of the unknown when
you have a child with a rare disorder that seems to outweigh it all.
Ruby’s care team grew over the next few months. Along with neurology, metabolic, and genetic care, she began routine MRI’s with Neurosurgery for the next 2 years to monitor her brain as she suffered from hydrocephalus from the bleeding in her brain causing the ventricles to swell, along with a cyst on her brainstem. We were mentally prepared for her to get a shunt, but eventually, the bleeding had stopped and the swelling reduced significantly over the months and we got to celebrate seeing our Neurosurgeon for the last time after a year and a half. After about a year, I pushed to have her weaned off of Phenobarbital as it was clear she only needed the b6 to prevent seizures. I felt the urge to educate myself as much as I could because unfortunately, I felt so alone in the first few years. It felt like the doctors we saw didn’t really understand PDE. To finally find other families with similar trauma and experiences with this disorder has changed our lives. We became very familiar with genetics & neurology and quickly learned all about triple therapy. We are regular visitors with Ophthalmology to follow her Strabismus which she had surgery for in April 2023. One surgery has not helped her eyes yet, but have been told she will need more in the future to prevent her eye from becoming unusable.
Growing up, Ruby has developed at a slower rate than others, but the progress she’s made over the last 3 years is remarkable. You would never guess all she has had to endure in 3 short years just by looking at her. She began crawling just a week before her 1st birthday, and began walking right before her 2nd birthday. Speech was delayed for quite a while, but after only 7 months of therapy at 2 years old, she graduated! She caught up on almost all milestones she was once behind on with the help of ECI therapies. At 3 years old, she is still in PT & OT for slight delays in motor and physical skills. Ruby attends daycare with other children her age and although she has some struggles, she can keep up! The biggest challenge for us has been trying to find other people that care about all her daily needs as much as we do.
Unrelated to PDE, Ruby also had to undergo a hip surgery (open reduction and pelvic osteotomy) in April 2023 to correct her hip dysplasia that somehow got missed by all the specialists and doctors she’s visited. She was in a Spica cast (body cast from ankles to chest) until mid-May and has been crushing her goals ever since, even starting ballet! Ruby embodies resilience, strength, and happiness in ways I never imagined. To say she is my inspiration just doesn’t feel like enough.
We are so, so grateful to have found this foundation, these families, and the amazing Coughlin Lab team. Although I wish Ruby could’ve gotten diagnosed more quickly, I am just so grateful for where we are today. I can instantly bring myself to tears looking at memories from 3 years ago, but, gosh if I could hug that version of us and say, “Just wait!” I never would have thought we would have the opportunity to meet other PDE families face-to-face and be able to discuss our goals as a group to advance PDE research. I believe we will change the PDE world!
