Brooke Taylor was born April 6, 2019 at Winthrop University Hospital. From day one Brooke has been a fighter. She entered the world 6 weeks premature, weighing in at 4lbs. 13oz. Amazingly, she only remained in the neonatal intensive care unit for 8 days. Her mother, Gabrielle, was hospitalized at Winthrop University Hospital for 31 days on bed rest, after discovering her amniotic fluid was dangerously low. After careful consideration it was determined that this little peanut needed to be emergently delivered.
In July of 2019, Brooke, who was just turning three months old, started to develop a “lacy” appearance to her skin. After a visit to the dermatologist it was determined that Brooke might have a rare genetic disorder. After second and third opinions a genetics specialist diagnosed her with Hypomelanosis of Ito. This is a rare condition characterized by distinctive skin changes in which areas of the body lack skin color. Seizures, developmental delays, and scoliosis are commonly associated with this condition.
Her parents, both career paramedics, began to dig deeper into this syndrome, they discovered there was little to no information available. Support groups appeared non-existent and minimal information was available on the internet. There was only one Facebook group page with less than 400 members worldwide. Not knowing what else to do, they began making appointments to have testing done that the genetic specialist recommended. The first test, an ultrasound, revealed that there was a delay in the closure of her fontanelle which is also known a characteristic of Hypomelanosis Of Ito.
September of 2019, was a rough month for the Graffeo family. September 2nd Brooke was taken to Cohens Children’s Hospital at the recommendation of her pediatrician. She had been vomiting for three days and he feared she was dehydrated. While in the emergency room Brooke had four continuous seizures all witnessed by the doctors. She was immediately admitted into the pediatric intensive care unit where she remained for the next six days. An electroencephalogram (EEG) revealed that she was having seizures every 10-20 minutes. These seizures continued despite all of the medications that were introduced over the course of several days. Her neurological team was under the impression that Brooke has been having seizures since birth. After the continuous trial and error with medications she was responding to mixture of 4 anti-seizure medications and also had two additional conditions, Epilepsy and Polymicrogyria. Cohens Children’s Hospital discharged Brooke stating that there was nothing further that they could do for her.
Polymicrogyria is a condition characterized by abnormal development of the brain before birth in which the brain develops with too many folds that are unusually small. Symptoms include Epilepsy, paralysis of the face, throat, and tongue, difficulty with speech and swallowing, drooling, lack of muscle coordination and impaired cognition of varying degrees and cerebral palsy.
After searching the web and speaking with several parents it was determined that The Epileptologist and Genetic Neurologist at StonyBrook Children’s Hospital might be able to help her and provide critical insite. In November of 2019, Brooke was transported back to the ER for what appeared to be crunching or “jackknife” like movements. After being placed on another EEG, Brooke was diagnosed with Infantile Spasms. She spent the next 29 days hospitalized undergoing an intense steroid inject treatments. She developed high blood pressure and the left side of her heart enlarged as a result of this intense medication. An NG tube was also placed because she was too weak to eat. After a week of the highest of highs and lowest of lows, Brooke was finally able to be discharged.
Next, her parents contacted the Brain Development and Genetic Research Clinic at Boston Children’s Hospital (BCH) for a consultation. Their team of doctors began working to create a treatment plan after reviewing her medical records. In February of 2020 Brooke was admitted into BCH for multiple tests. BCH came up with a chemotherapy treatment plan and protocol for Stonybrook Oncology to implement.
In June of 2020, with an already compromised immune system at the height of the Covid-19 pandemic, Brooke began an experimental Chemotherapy protocol called Everolimus. Unfortunately the chemotherapy did not work, Brooke was taken off of it within 8 months. In May of 2021 Brooke was admitted back into BCH for another round of tests, this time, to see if she was a surgical candidate. The options were a corpus callosotomy or a hemispherectomy. After several days and many tests it was determined that neither surgical option would be suitable for Brooke. Feeling defeated, Bo, Gigi and Brooke headed home but continued to search high and low for treatment options. During this time Brooke would go an entire year without being hospitalized, achieving small milestones in development. This all came to a raging halt in June of 2022. Everyone had come down with Covid 2 weeks prior but were able recovering at home until Brooke went back starting having back to back seizures on July 2nd. She was rushed to the ER and then transferred to Stonybrook Hospital where she remained in the PICU for 12 days. Brooke was on multiple medications and a machine to help her breathe when she need to be resuscitated. An MRI discovered that the COVID had spread to Brookes brain, similar to meningitis. Brooke’s brain was inflamed and infected. Bo and Gigi were met with the palliative care team to discuss Brooke’s future and treatments.
Brooke had gone through far more than she ever should have in her short life. They made the hard decision to sign a Do Not Resuscitate (DNR) order. They felt this was necessary and would leave Brooke in control of when she would say she could no longer endure the fight against epilepsy.
After 19 long days in the hospital Brooke was discharged home with more medical equipment. Bo and Gigi decided it was time to start Brooke’s bucket list of all the things they wanted her to experience in life before it was too late.
As we come to the end of 2022, Brooke had her first surgery. A Vagal Nerve Stimulator was placed in hopes it would shorten the length of her seizures. In true Brooke fashion, complications arose with the device. She is currently scheduled for a revision surgery. This family continues their tireless fight against epilepsy, while in hopes of helping others navigate this harsh disease.
This amazing, overwhelmed and brave couple navigate the unknowns of this rare diagnosis each day. Brooke is currently on 9 medications and, along with her parents, fights for her life of a daily basis. Unfortunately, Brooke Taylor’s fate is unknown; she is the only person in the world to be diagnosed with her genetic mutation. It is the cause of all 13 of her diagnosis. Her genetic mutation is a De Novo of MTOR variant c.6050 T>C p.I2017T. This is why she is known as the Rare Gene Warrior.
Both of her parents are First Responders, both Paramedics and Firefighters. They have been very involved volunteering within the communities where they have lived since 2005. Brooke’s parents, Bolivar “Bo” and Gabrielle “GIGI” have given back to their community, both volunteering at their local Fire Department. Both of her parents are employed as full time paramedics. They also work additional shifts at local fire departments to help make ends meet.
Her parents work non-stop, caring for their daughter while struggling to make ends meet and would do anything for her. Their ultimate goal as a family is to bring awareness to Unbreakable Brooke and her courageous fight, while also to bring awareness to the special needs community as a whole and support each other.