Go the Distance for Cincinnati Children's 2018
Amanda Black and Family
Axel Tomlinson & Family
Callie & Kelsey Pelfrey
Candace Leonard Fischer
Dave and Mary Minturn
Justin, Caroline, Ani, and Ava Lakins
Katie and Sam Mattson
Mrs. Jessica H. Schneller
Mrs. Mackenzie Leonard Lober
Nancy Reagan Huffaker "Miss Nancy"
Ruthanne & Randy Harmon
Scott & Chris Nieberg
The Bhavsar Family
The Gary Stevenson family
The Mantooth Family
Tiger and BarbaraGrimes
Trish and Larry Hart
Mrs. Mackenzie Leonard Lober
The Mantooth Family
Making Music Instead of Noise: Ephraim’s Story
Since he was an infant, few things have brought 5-year-old Ephraim Lober more joy than music. He attended his first baby music class at just 6 weeks old and was totally enthralled. He lives for guitars, or “gun-kungs,” as he called them in his younger days, and has worn out many. He quickly became the poster child for music therapy at his original hospital, as providers witnessed firsthand the way it transformed his inpatient days. But when it came to Ephraim’s medical care, there was never any harmony, only a screeching, shrill cacophony.
Born with three rare genetic disorders, including a duplication at chromosome 2q13 and mutations in the OCRL1 and CACNA1A genes, Ephraim has endured a number of medical challenges in his short little life. He was nearly 3 years old before specialists identified the full extent of his diagnoses. When they did, they shared with his parents that there had never been another individual with his particular set of genetic disorders and that, statistically, there would never be another. In short, there was no manual on how to treat and care for Ephraim. He would show his family day by day what his needs were going to be and what his future would entail. His dedicated, brilliant pediatrician likened making treatment plans and care decisions for Ephraim to playing darts with a blind man. Specialists would throw a bunch of darts and hope something stuck, never sure what the effect of any particular intervention might be.
2016 and 2017 were incredibly difficult years for Ephraim medically. He was hospitalized monthly with a number of life-threatening signs and symptoms that necessitated continual escalation of intervention. At 4, he had endured nearly 30 hospitalizations. He was fed continually by a J tube, or feeding tube in his intestines, via a pump that he wore in a backpack, and his stomach contents were continuously drained by a second feeding tube, a G tube in his stomach. He received a nightly IV fluid infusion through his port-a-cath, required frequent bladder catheterization during the day, and was dependent upon an indwelling Foley catheter overnight. Daily enemas were administered to treat constipation. He was dependent upon over 39 medication doses per day, and his blood pressure and blood glucose levels were monitored every 4 hours. Despite all these interventions and a care team of nearly 14 specialists that spanned Tennessee (where most of his specialists were located), Ohio (where we saw a few select physicians at CCHMC who offered programs or procedures not available at our home hospital), and Texas (where we travelled biannually to see a nationally-renowned dysautonomia team), Ephraim’s health continued to decline significantly. His medical team became gravely concerned about his prognosis. Despite our best efforts, he was treading water in his “good months” and declining rapidly in his bad ones. One specialist even suggested on the heels of a particularly difficult admission that we make our peace with the idea of “taking him home and making him happy,” as no matter how aggressively we chased them, his disease processes would ultimately outrun us and claim his life. They hated for us to “do too much” to this child who was bound to die young anyway.
Not ones to give up easily, we determined that our very sick and fragile, but exuberantly joyful and incredibly bright, loving, and determined little boy had a lot of fight left in him. As long as he wanted to fight, we resolved that we’d dedicate our lives to fighting alongside him. Early 2017 brought two sequential admissions to our local hospital during which life-threatening medication errors made by staff members placed Ephraim in grave danger of losing his life to someone’s negligence. After the initial error, we were in the midst of another admission, this time for a central line infection (sepsis). While praying about whether to have his port replaced locally or take him to Cincinnati, where the surgeon who’d done a flawless job placing his roux-en-y jejunostomy in February of that year could replace it, we discovered the second life-threatening error. Our precious nurse looked at us and commented, “I think this is your moment. This is the sign you’ve been waiting for. You know what you need to do.” The pediatrician agreed that it was time to transition the bulk of Ephraim’s care from our local hospital to Cincinnati Children’s, retaining only our dysautonomia specialists in Houston.
We officially transitioned Ephraim’s care to Cincinnati and assembled his CCHMC dream team in its entirety in July 2017. We were floored at every outpatient visit by the help we got. It was clear the providers here were dedicated to doing everything in their power to make our son’s life the very best that it could be. However, they remained respectful of our decision to continue managing his dysautonomia in Houston. In an effort to avoid stepping on toes, they didn’t alter anything related to his treatment for that condition, which had proven to be his biggest nemesis. Dysautonomia involves dysfunction of the autonomic nervous system, which is responsible for regulating heart rate, blood pressure, breathing, bladder emptying, gastric emptying, body temperature, and other critical functions. Blood pressure dysregulation, blood sugar dysregulation, low heart rate, and the like were so extreme as to prove life-threatening in Ephraim’s case.
Fast forward to February 2018: after over a month of blood pressures in the 180s and 190s almost daily despite tinkering with medication in every way his dysautonomia specialists recommended, he crossed over the 200 threshold one fateful afternoon. Normal systolic blood pressure for a child Ephraim’s age is between 90 and 110. His was over 200. We knew we could “watch and wait” no longer. Our son was in imminent danger of stroking out and losing all the cognitive and physical function he’d fought through years of therapies to attain. We couldn’t let that happen. We knew what we had to do. We contacted the nephrology fellow on call, who advised us to have him stabilized at our local emergency department. Determined to avoid further medication errors and get Ephraim directly to the best care available, we headed north to the Cincinnati ED.
While his blood pressures stabilized without much intervention during our first couple of days inpatient, Ephraim pulled another trick, one that we’d become so accustomed to at home that, sadly, we had accepted it as part of his life. He dropped to the floor in front of the nurses’ station and lost conciousness, pupil responsiveness, and the ability to speak. He was limp like a ragdoll, unresponsive and unable to be woken. We had been dealing with these episodes for some time, and no one had been able to give us a good answer as to what caused them. There were a number of hypotheses but no evidence to support any of them. He would typically sleep for several hours following an episode and then wake as though nothing had happened. The episodes were terrifying, but his vital signs remained stable during them, so no intervention had been initiated. He’d begin hitting his head rapidly and then quickly lose conciousness. The nurses were horrified by what they witnessed and said that it definitely wasn’t normal. We had the neurology team in our room within minutes, and they ordered a full work up, including a 24-hour EEG and sedated MRI. Spoiler alert: those tests yielded no clear answers. Ephraim continued to have more “episodes,” which seemed to be triggered by fatigue, while inpatient. When Dr. Franz, our neurologist, met us in the PACU after Ephraim’s MRI to deliver the good news that they hadn’t found any abnormalities, I lost my marbles and began to sob hysterically. Dr. Franz was confused: why wasn’t I thrilled by the good news? I wasn’t thrilled because my son had gone unconscious 17 times in the last 24 days and I was so desperate to know WHY and how to fix it. If you know me, you know that I keep it together pretty well. This reaction was unusual for me, especially in the presence of one of our care providers. Little did I know that my breakdown would be the beginning of Ephraim’s miracle journey.
We made it back to the floor, and the phenomenal nurses on A4 North, whom we’d gotten to know well, questioned what had happened to upset me. I relayed to them the series of events and my despair over not having an answer or a plan to fix this aspect of Ephraim’s presentation. They said, “You’re admitted to nephrology, and you deserve the chance to talk to your primary team about your concerns.” They made a couple of phone calls and within 5 minutes, Dr. Stuart Goldstein, Ephraim’s nephrologist himself, materialized in our room. I later learned that he wasn’t even on campus when they contacted him but came from home to talk with us. I’ve never witnessed that level of care and concern outside CCHMC. Through my sobs, he heard the desperation in my voice. He heard my heart as a mother wanting desperately to make things better for her baby. He heard my pleas that despite our best efforts, we just weren’t getting anywhere with treating Ephraim’s dysautonomia or getting our arms around these unconscious episodes. He listened when I said that Ephraim didn’t have these episodes when he was on a specific medication two years ago, a medication we had discontinued due to renal side effects. And he CARED deeply, despite it being Friday evening and him having other demands on his time. He assured me that we would schedule a follow-up collaborative appointment with himself and Dr. Franz, Ephraim’s (new) neurologist, in two weeks and that, at that appointment, we’d discuss options for achieving better control of Ephraim’s blood pressure and helping these episodes to abate.
A couple of weeks later, I received an email from Dr. Goldstein telling me that he had spent a lot of time thinking about Ephraim and talking with all the members of his team (including, I later learned, one who was at home recovering from surgery and another who was no longer at Cincinnati Children’s). Rather than the collaborative appointment, he wanted to admit Ephraim to the hospital for a five to six day stay under the direction of the Yellow Team, the inpatient team dedicated to overseeing care for medically complex children. His plan was to reinitiate the medication we had discussed that he’d taken previously as a treatment for one of his genetic disorders while closely monitoring the renal fall out of doing so. He and Dr. Franz hypothesized that perhaps the episodes of unconciousness were actually hemiplegic migraines, a condition that is highly associated with mutations in CACNA1A, the disorder that this particular medication treated. If their hypothesis was correct, it would explain why Ephraim didn’t have the episodes of unconciousness while taking this medication previously. It would also explain why no abnormalities had been identified on EEG or MRI, as hemiplegic migraines wouldn’t show up on either of those tests. He hoped that the medicine might also help to treat Ephraim’s dysautonomia and that he could, in the best-case scenario, “make a few dominoes fall,” enabling us to perhaps decrease the volume of fluids Ephraim received intravenously each night. His rationale for timing the admission as he had was that Ephraim was scheduled for surgery to place a Malone appendicostomy the following month. He wanted to ensure that we didn’t miss any opportunity to improve Ephraim’s quality of life prior to the procedure. He said that we didn’t want to put ourselves in the position of doing this surgery and then looking back with regret, wishing that we’d tried something else before pursuing it. David and I were on board with the plan but a little terrified. The IV fluids had been the only thing keeping Ephraim from constant hospitalization, and I couldn’t bear the thought of what might happen to him when the team tried to wean those.
Ephraim was admitted for the coordinated stay on March 12, 2018. Dr. Goldstein chose a week where several of Ephraim’s key specialists, including himself, Dr. Franz, Ephraim’s urologist, Dr. Reddy; his gastroenterologist, Dr. Kaul; and his geneticist, Dr. Hopkin, were in house. He said he wanted providers working together and speaking to one another daily about Ephraim. Early in the stay, Dr. Reddy explained that because this stay marked the first time that all Ephraim’s care was taking place under one roof, his providers were hopeful that with better care coordination, they could affect major change in his life. He noted that Yellow Team would act as the conductor, ensuring that each section of the orchestra was doing its job effectively and in conjunction with the other sections. By coordinating care across disciplines and working as a team with the shared goal of improving Ephraim’s quality of life, he believed that they could begin to “make music instead of noise.”
What transpired during that week can only be described as miraculous. The team initiated therapy with Diamox. As expected, there was some renal fall out, but nothing that wasn’t easily managed by increasing the dosages of a couple of his supplements. Dr. Goldstein said that, in contrast to the dartboard approach, the team would alter only one thing at a time in order to see definitively the impact that each change had on Ephraim. Instead of the symptomatic treatment Ephraim had been receiving, their goal was to get at the underlying disease process driving much of his clinical presentation. The results of the week surpassed even our most optimistic specialists’ expectations. Four days in, the team had completely weaned Ephraim from his nightly IV fluids, a process they had expected to take months, if it was even feasible. When he was discharged on March 21, he hadn’t had an unconscious episode in six straight days. He was emptying his bladder reliably without any catheterization. The child who had spent years vomiting when he received over 10 mL of liquid into his stomach and sometimes vomited up to twenty times a day even when receiving all nutrition directly to his intestines was now tolerating 100% of his tube feeding volume into his stomach.
Four months later, the news is even better. Ephraim hasn’t had a single hemiplegic migraine since his discharge from that stay. That means NO going unconscious for four months! He is now receiving bolus tube feeds during the day and eating orally for the first time in three years, consuming anywhere from 10-40% of his daily caloric needs by mouth. Therefore, he is only reliant on his feeding pump overnight. So, he’s gotten to ditch the backpack he’d been tied to for over three and a half years and feel what it’s like to enjoy childhood activities like slides and gymnastics without his “turtle shell” interfering. He completed a power chair trial at Cincinnati’s Perlman Center in July and wowed us all with his seemingly innate driving abilities. We’ll be ordering his new chair in September so that he can begin kindergarten the following fall with the freedom and independence that come from self-mobility to navigate the school building. He recently went through the Bowel Management Program a third time and was able to get off the daily enemas he’d received for over two years. With the help of Diamox, he’s now thriving on laxatives despite an unsuccessful laxative trial just a few months prior. The child providers thought was going to enter kindergarten in diapers was officially daytime continent just in time to turn 5 in May. And what a birthday it was. Seeing him enjoy a birthday dinner for the first time in his five years of life and experience for the first time what it is to devour birthday cake did our hearts more good than I can express in words. In fact, this was the first birthday in several years where I hadn’t had to worry and wonder whether it would be the last party I’d get to plan for him given his trajectory. That, my friends, is a gift for which I can never adequately express my gratitude.
Ephraim will continue to face medical and developmental challenges and rely upon supports like therapies, mobility aids, medications, and his feeding tube to thrive. But, going forward, we know, and, most importantly, Ephraim knows, that he will navigate those challenges with the help of the most compassionate, devoted, brilliant, and persistent specialists imaginable. At our local hospital, a lot of assumptions (incorrect assumptions, at that) were made about Ephraim based upon his global developmental delays and his diagnoses. We were thrilled to see that at Cincinnati, our specialists see the Ephraim we see. They recognize a bright, exuberant child who is full of potential and the capacity to make a meaningful impact on the world. They don’t treat labels—they treat the child in front of them. While acknowledging his diagnoses and obstacles, they refuse to allow those labels to define our spunky, hilarious, and endlessly loving boy. They see a life worth every ounce of the fight and the sacrifice required to make it the very best life it can be. They speak directly to Ephraim and treat him like a person, something he hasn’t experienced at other institutions. They listen when he “adbocates,” as he puts it, for himself and take his concerns seriously.
As a result, he has a comfort level with and a trust in his physicians that we’ve not seen at other medical institutions. He tells us, “These doctors so sweet!” No sooner had Dr. Goldstein entered the room at our July appointment than Ephraim ran to embrace him, shouting, “I love you Dr. Goldstein! Thank you for doing the miwacle that letted me eat!” He tells Dr. Frischer, “I have a hug for you!” and then reaches his arms up to be picked up. Frischer scoops him up and props him on his hip as naturally as if Ephraim were his own son. He walks the hall hand in hand with Dr. Franz. When he tells Dr. Franz he loves him, Dr. Franz says it back with the kind of conviction that makes you believe it’s genuine. Dr. Kaul asks to see pictures of the new wheelchair-accessible playground we built for him, wants to know what characters are on his big boy undies and what his favorite flavor of ice cream is, and insists on a “group hug” with David and me as he rejoices in Ephraim’s progress and congratulates our efforts. Dr. Goldstein requested pictures from Ephraim’s birthday celebration and then shared them with his wife, who reportedly cried. These doctors exhibit a devotion to and compassion for the children in their care that is absolutely unparalleled. We have not been forced to choose between receiving superb medical care and having physicians who love our child as they would their own. At Cincinnati Children’s Hospital, we have it all. Most importantly, we have a team of the best and brightest who are deeply invested in changing our child’s outcome for the better.
What do you say to the people who have saved your child and given your family your lives back? I’ve yet to determine a satisfactory answer to that question. I am certain of very few things in life, but this I know for sure: if Ephraim walks (or rolls!) across the stage at his high school graduation, which for the first time in his life, I truly believe that he will, it will only have happened because of his pediatrician, Elizabeth Bailes, and his team at Cincinnati Children’s. This place has given us the greatest gift of our lives by giving our precious angel a fighting chance. I can’t adequately describe the flood of emotions I experienced at our first pediatrician visit following the pivotal inpatient stay, when Dr. Bailes admitted to me that she had worried Ephraim wasn’t going to make it long-term. Hearing her acknowledge her own fear so openly and then express the exuberant hope she now has for Ephraim’s future thanks to Cincinnati—that was our music. There was no cacophony—there was, for the first time in Ephraim’s five years of life, a symphony. As a sign reads in a CCHMC hallway, “Each time I look at my children, I can say to them, whatever the obstacle, there is a chance for you.” Because of CCHMC, there is a chance for Ephraim and a chance for countless others like him.
But it’s not enough. There are still too many children losing their lives to sub-par medical care, careless errors made out of negligence, and inability to access life-saving and life-changing treatments, surgeries, medications, and therapies. I’m not a soapbox kind of girl, and I’ve never had a cause about which I was this passionate. This place does the work of healing every day. This place changes lives—not just ours, but so many. As a non-profit hospital, they depend upon our financial support to continue to be instruments of miracles in the lives of children everywhere, children for whom traditional hospitals and traditional medical care fall short. In the words of Dr. Devarajan, the Director of the Nephrology Division at CCHMC, “They come here because […] science has failed them. Medicine has failed them. And we’re working very hard in our division to change that.” With your help and support, CCHMC can bring hope and help to children whom medicine has failed. Together, we can change their outcomes forever.
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