Help us give Violet a fighting chance

Our dear Violet Sarai Paulino was born May 12th, 2020 in the midst of a global pandemic. A routine appointment lead to the emergency c-section. Our daughter, Violet Sarai, was born premature at 33 weeks on May 12, 2020 at just 3lbs & 3oz. She was delivered early due to poor fetal growth in the womb and was diagnosed with IUGR (Intrauterine Growth Restriction) she had close to no amniotic fluid in the placenta. We had no idea during the pregnancy that anything was wrong, as doctors kept telling us all test were normal, and that everything was fine.

This all abruptly changed in the weeks to come and months that then on followed. Violet was in the AMAZING NICU of Cohens Children Hospital. There she was evaluated by several doctors for many reasons we didn’t understand at that moment. Here were some of violets diagnosis, procedures, treatments and many things she had to endure while we waited on an answer why (the list is long) besides the IUGR after birth came, Craniosynostosis (which she get her first surgery at just 2 months old, which followed in her having to wear a helmet), Vomiting, Coughing, Tracheomalacia, Tetheredcord (she got operated on that In April of 2021), SGA, Oropharyngeal dysphasia, Ineffective airway clearing, Hypercalcemia, Gastroesophageal reflux disease, Failure to thrive, She had failed her hearing screening (which we then found out she had mild-moderate hearing loss in BOTH ears, she now wears hearing aids), she got Aspirational pneumonia twice, Bilious emesis, Congenital Scoliosis, Congenital skeletal anomaly, Contractures on ring finger joint in right and also left hand (which were waiting on word for a possible operation for it) kidney stones, and she even survived COVID-19 (mother and herself had it).

After a whole year of trial and error and just trying to figure out what can be causing all of this, For Violets 1st birthday we FINALLY received some answers. She has been diagnosed with Bainbridge-Ropers Syndrome ASXL3: a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features. And also ZTTK syndrome: a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Both 2 EXTREMELY RARE syndromes in where from doctors and also the research we have done... there isn’t much information on... and almost no information of life expectancy. Our hearts were completely broken, but we knew that it was only the beginning of the battle. 

Violet has been using a feeding tube since birth, and will now be getting a G Tube which will require surgery in where a small camera will get inserted through her belly button to then make a hole to put in the tube. This is necessary because she cannot feed on her own and the NG tube is causing her to choke on her own secretions, aspirate, and even get pneumonia. It seems like every appointment we go to... something new comes up, a new problem or a new diagnosis. Our little baby girl is unpredictable but a FIGHTER nonetheless. She always seems to surprise nurses and doctors with how well she does! We have no time to think about where we went wrong or why this happened. As her parents we want to advocate for our child and seek specialist to ensure our babies quality of life. We are also doing this to see if we can get in contact with a doctor that can help us or specializes in her type of syndrome. Right now doctors don’t seem to know much and they treat what they can. We want to best help her beat all the odds that are presented to her as she so strongly is fighting as much as she can. The monies will be allocated to help us as her parents to pay the piling medical bills: our work insurance just simply not enough. We have to pay for genetic testing, medication, medical supplies, different therapy’s (speech, physical therapy, feeding therapy) & so much more. Traveling 1 hour to her hospital

and specialist. Working has been impossible because of the influx of appointments and follow up care from home. Our attendance at work is being affected gravely, we are close to losing our jobs. We can’t help to feel like we have to chose between our daughters health and basically just getting by. In order to ensure Violet continues growing well is with constant supervision and care. Work gets in the ways of appointments! We want to give our baby girl a fighting chance! We are doing as much research and possible, trying to find parents with children like violet, resources for help. Violet has a long journey to go with a bunch of procedures coming up... but as her parents were going to help her keep fighting. We hope to one day have our baby girl walking and playing with her older sister who loves her SO much. Thank you guys so much for taking the time to read our daughters story, we tried to make it as short and simple as possible since her case is so complicated. We’re appreciative of anything! A prayer, a share. Literally anything. God bless you all.