GETTING RECORDS TO GET BETTER CARE
After more than a year of trying to piece together her child’s medical records, JJ Vautier has a complete look at the data for the first time.
“I have been scrolling through all of Steven’s records and—holy moly—there are just pages, and pages, and pages,” she says during our phone conversation; “I have to figure out how these hospitalizations are coded in order to help guide where to find them.”
When we first heard about JJ at Ciitizen, we were told that a mother living east of Sacramento was trying to get an appointment for her medically complex child. Standing in the way of that appointment was her inability to access her son’s medical information. Even though Ciitizen’s neuro division wasn’t planning to launch until September, we agreed to onboard Steven immediately in order to help accelerate the referral process.
JJ’s son Steven was recently diagnosed with SYNGAP1 syndrome, a rare genetic disorder caused by a gene mutation that manifests itself like a combination of autism, epilepsy, and developmental disability. JJ, a veterinarian who has been forced to take a leave of absence and devote herself entirely to Steven’s care, has been trying to get an appointment with a specialist at a more advanced regional medical center. At the recommendation of other SYNGAP1 parents, she is seeking a referral to Stanford Children’s Neurology, but she can’t see the Neurologist until she gets reports from some key tests.
After fighting for Steven’s medical records for months, Ciitizen’s medical records collection team took over. In one week, JJ had access to a dashboard with every page of her son’s records. JJ is just now getting a look at what those documents entail.
READING THE NOTES
“The neurology appointments are just terrible,” she gasps as she scrolls through the digital records; “He doesn’t document anything. It literally just says: Staring spells. Rule out seizures.”
There are thousands of pages of information in Steven’s profile. Many of which would have required her to pay a fee for access, if her medical centers had their way—even though the practice is illegal. Patients in remote areas like JJ’s often bear the burden for technological deficiencies. If the only way to supply a patient with their records is through extensive printouts, the patient is often charged for the paper and ink each time.
Ciitizen, as it does for all patients, provided her with access to Steven’s records at zero cost. One hospital even called her to apologize for their earlier difficulty after learning from the Ciitizen team about the legal ramifications of withholding patient records.
“His pediatrician notes are pretty darn good,” she says with a more positive inflection, but she’s still stuck on the neurology records. “Here it just says: Plan: discuss test results. But he never did any tests!! And this guy is our neurologist!”
TOO MUCH FRUSTRATION
Frustration and chagrin are common, however, when dealing with Steven’s medical care, seeing that few doctors even know what SYNGAP1 is. “Since the beginning, no one has been particularly helpful in getting us seen by anyone with experience,” she laments.
For most of 2020, JJ has been trying to get a referral to Stanford, but has been told she needs certain test results and medical records before she can see the neurologist.
“We were supposed to get it four months ago, and we still don’t have it,” she explains; “Now I’m sitting here trying to fill out these forms myself, but I don’t have any of the medical codes and I can’t get them from his pediatrician because their records person has taken a leave of absence.”
If getting Steven the care he needs wasn’t already hard enough, the pandemic has made it far worse. Living in a small town east of Sacramento, JJ has long exhausted the medical options within her community.
“I can’t schedule a sleep study right now because no one is open,” she says with a sense of weariness; “COVID has definitely impacted us, but the medical system in general simply doesn’t know what to do with my kid. I have to verbally tell each person what the last doctor said and no one gets the big picture.”
“In 15 minute appointment spots, I can’t get the full history in,” she adds; “No one shares history or records, and no one has seen a kid like this.”
More importantly, JJ hasn’t been able to show any new doctors the extensive data about Steven because—until Ciitizen’s intervention—her care centers wouldn’t release his information—a direct violation of her rights under HIPAA.
To get a sense of the battle fatigue JJ is experiencing while fighting for her child’s care, it helps to have an understanding of Steven’s timeline. “Steven hasn’t been normal since he was born,” JJ begins to tell me; “He screamed nonstop for the first ten months of his life. I could not comfort him, no matter what.”
Immediately after his birth, Steven was kept at the hospital due to jaundice. He wasn’t latching properly, which made feeding difficult, and he couldn’t swallow normally, which led to choking hazards during feeding. When the hospital finally discharged him, he came down with pneumonia and was put on antibiotics and required nebulization for weeks. It took him weeks to recover.
More than three months later, he still wasn’t nursing properly.
“He would be gulping at the milk, getting a lot of air,” JJ clearly recalls, the details still fresh in her mind; “He had reflux as a result, so they gave him steroids for his lungs which only caused more problems. He’s never been healthy and everyone keeps telling me different reasons for it. First, they said it was my milk. Then it was just his personality.”
While the physical symptoms of SYNGAP1 mutation were apparent early on, Steven’s developmental delays weren’t as immediately obvious. “I started noticing at around four months of age that he wouldn’t grab things,” JJ remembers; “He was always socially present, but he was never truly engaged with people. He never wanted to explore and he never tried to explore. He would just lay there on the ground and cry.”
The appearance of gastrointestinal problems overshadowed Steven’s cognitive abilities. Diarrhea and constipation were a constant issue. “He would go three to four weeks without defecating sometimes,” JJ recollects; “Or he would go constantly due to antibiotic induced diarrhea. I couldn’t give him solid food because he would choke.”
Forced feedings only added to the trauma, giving Steven anxiety around eating. “I couldn’t even open a jar of baby food without him becoming hysterical,” JJ explains; “I couldn’t get near him with a bottle. He would only breastfeed. I had switched jobs to spend more time with him at home because we had three nannies quit, we couldn’t get child care elsewhere, and he was sick all the time.”
The developmental delays continued.
“He never opened his hands,” JJ points out; “His hands were clenched all the time. He never slept normally. He always seemed uncomfortable. The nurse practitioner told me it was because I coddled him all the time. It always seemed to be my fault whenever I sought outside care.”
After nine months of sheer exhaustion with little support, JJ and her husband went to a new practitioner who completely ignored their observations. Drained and discouraged, they drove an hour to visit Steven’s original pediatrician who finally referred them to a neurologist. “He couldn’t sit up. He had no muscle tone. He was super constipated. He was just a blob,” JJ explains as we went down the laundry list of all his problems; “We had tried all these meds, and he had been having these spells where he would just check out. They weren’t seizures, but he simply wasn’t present.”
On Christmas Eve of 2019, Steven finally had an MRI. “They told me he either has autism or a brain tumor,” JJ recalls, “but the MRI didn’t show a brain tumor.”
While Steven was under anesthesia for the scan, JJ saw an opportunity to take matters into her own hands.
“I felt like he needed genetic testing because of my family’s history of autism and learning disabilities,” she recounts; “I had scheduled a genetic counseling appointment at Davis for six months out, so I asked the doctor if she could pull blood for a complete genetic sequencing while Steven was asleep.”
JJ and her husband waited anxiously for the results, but the onset of COVID-19 delayed the response by several months. Finally, on May 12th—more than a year after Steven’s initial symptoms—they got the diagnosis: SYNGAP1.
“I had no clue what it was,” JJ says, reliving the confusion all over again; “I asked for a copy of the genetic report which they eventually faxed to me, but I only got it after calling them more than fifteen times. By that point I had already Googled SYNGAP and it painted a pretty scary picture.”
Since the diagnosis, JJ and her husband have been trying to obtain early intervention services, but they aren’t hopeful. “Our county is completely shut down because of COVID, so I don’t see it happening.”
To complicate matters, Steven needed a feeding tube inserted this past June due to continued feeding issues. “Within twenty-four hours he tried to rip it out,” JJ adds; “And I still can’t get a full feeding done because he either stops me from doing it or he vomits.”
Unable to access continued support, JJ fears that Steven is regressing.
“He stopped swallowing recently,” she says nervously; “He falls flat on the floor and is unresponsive. He started head shaking and other new behaviors. I can’t get anyone to give me an EEG right now to see if he’s having seizures at night.”
Steven’s referral to a developmental pediatrician is set for November, but JJ isn’t optimistic.
“I only need to go there so I can get a referral for ABA therapy,” she explains; “But then once I get permission from our insurance to do the therapy, I have to find a therapist who will actually work with him during COVID.”
JJ and Chris found the SynGAP Research Fund (SRF) who is partnering with Ciitizen. SRF connected JJ with Ciitizen and she got control of her son’s records. Then, JJ was able to contact Stanford and begin the admittance process of getting Steven the quality care he needs. “Ciitizen has saved me hours and hours of work,” she says with relief; “We have all of his imaging, which I wasn’t able to get on my own. Plus, I don’t have to keep paying these other hospitals for copies of his records.”