Aubriana’s Fight Against PCDH19 Epilepsy

Hi, my name is Jeanine Brudenell, and I am a longtime friend of Aubriana’s mother, Jennifer Winkenwerder. I was blessed to be present at the birth of Aubriana and I have witnessed the incredible challenges she has already faced in her very short life.

Just five days after her birth, Aubriana experienced her first apneic episode. She stopped breathing, was foaming at the mouth and appeared to be choking on nothing. She was transported by ambulance, observed overnight and after a series of tests the event was labeled a BRUE (Brief Resolved Unexplained Event). Jennifer was told, “this happens sometimes”, and Aubriana was discharged home.

The next several weeks were uneventful. Aubriana hardly ever cried, was a healthy eater and a happy baby. Everything seemed perfectly fine.

On the twenty-sixth day of her life Aubriana experienced a second event. She was having a seizure that was preventing her from breathing. I was on the phone with Jennifer when this happened, and I heard the panic and absolute terror in her voice as she tried to revive Aubriana and yelled for me to call 911. I got off the phone with her, called 911 and rushed to her home. EMT’s and the fire department were there when I arrived. Jennifer went with Aubriana by ambulance for the second time in less than a month of her life. Jennifer told me that Aubriana had a seizure that was preventing her from breathing. She was turning purple, her eyes were bulging, and she had a terrified expression on her face. Jennifer tried everything she had learned through her CPR courses over 25+ years of military training. She cleared her mouth and forced Aubriana’s tongue out of the way so she could breathe.

Aubriana was rushed for a second time to Banner Hospital. This time for a full medical work up including an MRI, EKG, x-rays, ultrasounds, video EEG, ENT scoping, and blood work. They discovered a PFO (Patent Foramen Ovale), which is a hole between the left and right atria, (upper chambers of the heart). Also found was an asymmetric vocal chord closure, deviated septum, and focal spiking in her brain. They ordered seizure medication - but while waiting for administration of the drug, Aubriana had another seizure in the hospital. Aubriana’s MRI was unremarkable and her metabolic blood work was also unremarkable. Jennifer was told seizures can happen in infancy and could continue throughout her toddler years, but would typically diminish. Not satisfied with that explanation, Jennifer pushed daily for the DNA epilepsy blood test, which is not typically given and is considered an ‘outpatient test’. After days of pushing, the Epilepsy panel was ordered with results expected in a month. Aubriana still had a concerning irregular respiratory rate that could not be fully explained. Aubriana was discharged on seizure medication with a “follow-up” plan including cardiology, neurology, pulmonology, ENT, and a promise of receiving an oxygen monitor.

When the DNA Epilepsy blood test came back it showed that Aubriana has PCDH19 Epilepsy.

www.pcdh19info.org

PCDH19 Epilepsy is a rare disease with a wide spectrum of severity in seizures, cognitive delays and other symptoms. Symptoms include Cluster Seizures that can last days or weeks and do not respond well to available medications. These seizures can have ictal apnea - where individuals stop breathing during seizures and have rapid and sometimes prolonged oxygen desaturations. The first seizures usually occur between 3 months and 3 years of age. Symptoms include cognitive and intellectual disability of varying degrees ranging from mild to severe, Autism spectrum disorder, behavioral problems, aggression, ADD/ADHD, and anxiety. In adults symptoms include depression, bipolar, schizophrenia, and psychosis.

There is no cure. Only medication can reduce the severity of Aubriana’s seizures and help reduce the impact of debilitating cognitive symptoms.

If things could not seem more bleak, they are. Aubriana is at significant risk of “status epilepticus” or SUDEP (sudden unexplained death in epilepsy). For Jennifer, this is a nightmare come true. Even with constant monitoring she continually wakes to check on her.

This disease is extremely rare, with only 350 cases worldwide and 150 cases in the US. There are only five children’s neurologist in the world specializing in PCDH19, with only two in the USA. One in Boston, and the other in San Francisco.

Aubriana was referred to the neurologist at UCSF Pediatric Epilepsy Center. He is the PCDH19 expert based in San Francisco. Jennifer had an introductory virtual meeting with him, and he informed her that Aubriana is the youngest known case of PCDH19 … ever. Her new neurologist recommended keeping her out of daycare and under observation. It’s not a matter of if she will have more seizures, but when. He also expressed the importance of minimizing triggers, which include fevers and over heating.

Because of Aubriana’s diagnosis, Jennifer will need to hire an Au Pair specifically trained to care for special needs children. This person will also be charged with the care of Aubriana’s two and a half year old sister, who also has health challenges because she was born a micro-preemie. Jennifer is a single mom working full time and currently still serving in the US Air National Guard. She has been shouldering the care of two special needs children on her own with amazing fortitude and grace.

As you can imagine there are and will be enormous costs associated with Aubriana’s care. Including, but not limited to, travel expenses three times a year to San Francisco to see her neurologist, medical equipment, and caregiver costs. Due to Aubriana’s young age, she is required to take medication in liquid form, which is sometimes difficult to obtain. This often requires Jennifer to acquire these medications from pharmacies that do not take her insurance, and at times directly from the hospital, paying full cost. In addition to all of that, Jennifer will at times be required to take unpaid leave from work in order to meet Aubriana’s needs.

Any and all donations, no matter how small, are so much appreciated and will go entirely towards the care of Abriana and her sister Elizabeth. Please consider helping this beautiful little family overcome the astronomical challenges they have been forced to endure. They mean the world to me and I know Jennifer will be so grateful for your support.