Navigating The Health Care System When Your Child Has A Condition No One Has Heard Of
It took 16 hours of pitocin-induced labor before I held my son, Martin, for the very first time. The second his warm little body was laid on my chest, I felt a physical pull on my heart. There he was, my purpose, and he was the most beautiful being I'd ever seen. I had no idea something was wrong. And I had no idea that his entrance into the world would also be the start of me navigating the health care system to advocate for a child that would be diagnosed with a condition very few people have even heard of.
Moments after he was born, I remember the room getting quiet and additional staff being called in. I remember a nurse approaching my bed, informing me that Martin's body temperature could not be read "traditionally." She said my son didn't have an anus — an opening for his butt — a condition called imperforate anus. My initial reaction was probably similar to most people when they first hear about such a condition: That's a thing that can happen?
Comprehension escaped me completely. It's almost as if my brain took this information and immediately locked it away somewhere for future processing. It was simply too much. I was left with a vague understanding that something could be done to correct it, but that for the time being he'd need a surgically-placed colostomy bag and I was going to be responsible for it's care and maintenance. Martin was whisked away to the NICU, and I was left alone.
In total shock, I tried to take in what was happening. I was euphoric over the birth of my child, and yet I was totally heartbroken, knowing his life would be nothing like what I had anticipated.
This was the first of what would turn into many long nights, my mind running rampant with conflicting feelings, keeping me awake until complete exhaustion took over.
The following five days spent in the NICU are almost all a blur. I remember spending as much time as possible alongside Martin's crib, learning how to hold him, nurse him, clean and replace his colostomy bag, and care for his stoma and surrounding skin. I remember him being shuttled in and out of the room for multiple tests on parts of the body that the doctors said were somehow related to his diagnosis. I remember them telling me they could see no other major conditions, and that aside from the obvious he was a very healthy baby.
I had this huge, unbearable sense of guilt, wondering where in my prenatal diet I had gone wrong. What could I have possibly done for him to deserve this? Why my baby? Several of the staff members took turns reassuring me that it was congenital, completely random, and not the result of anything I had or had not done.
I had to spend five days staring at him, desperately wishing I could just pick him up or hold him or comfort him in some way.
Shortly after, we were referred to Maine Medical Center in Portland, Maine, to see a general pediatric surgeon, who would tell us more about what the future would hold for Martin. When we were cleared to leave the hospital and go home, I was feeling confident about my ability to care for Martin, "special" needs and all.
My plan to return to work a few months after Martin was born was rendered impossible. I had no one able to care for him while I worked or went to school, and to pay someone qualified would be as expensive as hiring an in-home nurse. Martin was automatically eligible for state-funded insurance, due to his condition, but I did not receive food stamps or cash assistance beyond $300 a month. I was a single parent, Martin’s father’s child-support order wasn’t being enforced (and eventually Martin's biological father would waive his parental rights), and all I had was a vehicle and a room in my parents’ house.
Still, I was determined to do whatever it took to give him a good life, despite the obstacles in our way.
I immediately immersed myself in my sons' diagnosis. I pored over his medical records. About a third of the way through the stack I found the notes for the imaging done on Martin's spine; results I had never known because, I had assumed, nothing was wrong.
"... 7/19 Spinal ultrasound: cartilaginous segment of coccyx not well seen, L3 terminus of spinal cord at lower range of normal, question of mild caudal regression syndrome... "
That's when I ran to the computer and began researching everything I could find about imperforate anus and caudal regression syndrome. Caudal regression syndrome is also known as VACTERL; the acronym stands for the body systems it can disrupt. It is hard to say how many people are affected by VACTERL, because of the wide range of symptoms, but it's anywhere between 1 and 10 in every 40,000 people. People suffering with this condition have one thing in common: Sacral agenesis. This is when the bottom of the spine, the sacrum, is partially or totally missing or malformed, and this complication can cause additional issues in a slew of body systems, including vertebral defects, anal atresia, cardiac defects, tracheo-esophageal, renal anomalies and limb abnormalities.
I advocated as strongly as I could for my beautiful baby.
My sweet baby Martin had sacral agenesis, imperforate anus, hydronephrosis (excess fluid) of the left kidney, and now something going on with his spine that I had just discovered. As far as his imperforate anus, he was possibly eligible for what is known as the pull-through procedure. Developed by Dr. Alberto Peña, a world-renown pediatric surgeon, to help patients avoid lifelong colostomy bags, it's basically a procedure where the rectum is placed where it is supposed to be and affixed to the outside, and an anus is formed. Peña headed the Pediatric Colorectal Center at Cincinnati Children's Hospital in Ohio at the time, which was the best place in the world for kids like Martin to receive treatment. They specialized in ano-rectal malformations. When I searched for information on colorectal resources or surgeons in Maine, New England, and even the east coast, I found nothing.
I had to figure out a way to get Martin to Cincinnati.
I set up the earliest appointment available with Martin's pediatrician and, armed with my medical records, showed her what I had found in the notes. She said Martin needed to see a neurologist and neurosurgeon immediately. If Martin had gone much longer without treatment he could have experienced irreparable nerve damage or complete loss of bladder control, she explained.
Before I knew it, my baby was scheduled for a surgery to fix his tethered spinal cord — a condition in which the spinal cord is attached to the spine, as opposed to being parallel but separate.
As terrified as I was at the prospect of spine surgery, this was a more common procedure being done by an experienced doctor. After an "unremarkable" procedure, Martin had to spend five days on his back, staying straight. I had to spend five days staring at him, desperately wishing I could just pick him up or hold him or comfort him in some way. We were sent home from the hospital the morning of Thanksgiving, and just barely made it in time to enjoy dinner with my family. At home I began investigating Martin's insurance and looking into the possibility of having him sent out of state for his pull-through procedure. The oversight of his spinal imaging had only deepened my uneasiness of the quality of his care.
In order for potential out-of-state care to be covered, I needed the Department of Health and Human Services (DHHS) to approve prior authorization. In order to obtain authorization, I needed a letter of medical necessity from a “specialist.” But DHHS considered a general pediatric surgeon to be specialist enough, so the fact that there wasn’t a specialist in-state wasn’t a valid enough reason to approve the out-of-state funding. They made it clear that if a surgeon in Maine was willing and able to do the procedure, that was sufficient.
It began to feel as though we were in a medical desert of sorts, where no resources for Martin’s condition existed. That couldn’t be true, could it? Not in the "richest" country in the world, right?
I didn’t know what else to do, so when Mainecare denied my request for prior authorization, I requested an appeal. I carefully gathered my research and Martin’s records and pulled from them an argument. Simply, with no specialist around to first perform the surgery perfectly and second to oversee his extensive follow-up care, he was not being given the best possible chance of achieving continence. He could wind up incontinent, even disabled, his whole life.
My dad accompanied me to the hearing, where I attempted to calmly make the DHHS officials understand my son's plight. I advocated as strongly as I could for my beautiful baby.
My appeal was denied. My son would have surgery in-state, by someone the state deemed an expert.
My baby needed a fifth surgery.
The procedure was slated for February 23, 2013. I was physically sick with worry. I was terrified for Martin. I wished I could just go through the procedure for him. I hoped with all my might that everything would be OK. Martin, on the other hand, was relatively calm and happy — incredibly resilient for being just a little baby. So, pretty quickly, Martin was on the mend and we were, once again, headed home.
At this point, Martin still had his colostomy. It would need to be reversed later, once his bottom healed, but for a while everything seemed relatively normal. Martin did have what appeared to be a small area of exposed tissue on the left side of his surgical site, though. At this point, no stool was being passed through his surgical site or touching his skin. It wasn’t until after Martin’s fourth surgery — to reverse his colostomy — that it became apparent something was wrong. While it’s common for a rash to form on newly exposed skin on the bottom after colostomy closure, the one Martin got was horrendous. It would get so red and raw that it would bleed. After speaking with his doctor, I was directed to and tried lathering his skin with thick, white diaper rash cream, to create a barrier between his skin and waste. I changed him every two hours. We followed the doctor’s orders precisely. I spent a fortune on supplies. And when nothing worked, I set alarms to change his diaper every 45 minutes, day or night.
I did this for a year.
During this time I had met someone, and Martin and I relocated to East Hampton, Connecticut, to live with him. We figured a second opinion at a better hospital was long overdue. Martin was automatically eligible for state insurance due to his condition. Soon he was seeing a doctor at Connecticut Children’s Medical Center in Hartford, and it took one appointment for that physician to conclude that the open tissue — called mucosal ectropion — was preventing Martin’s surrounding skin from healing.
My baby needed a fifth surgery.
Thankfully, after that surgery the skin on his bottom healed and his rash vanished. And since I was starting to feel like Martin was finally receiving the help he needed, we started to attempt some potty training.
Over the next two years we found that Martin had a decent amount of control and sensation when it came to peeing on the potty. When it came to the opposite, however, he seemed to not be able to anticipate it coming or even feel when it was happening most of the time. Martin was almost 5. We had exhausted every tip and trick in the book, and we felt we were doing more harm to Martin than good. He had begun to feel as though it was his fault.
Weird things happen to you when you are the parent of a child struggling with an unseen condition that no one has ever heard of; a condition that directly affects one of the most taboo, difficult-to-discuss bodily functions: you feel alone. We were descending deeper into a place of isolation, because Martin couldn’t go anywhere, or do anything, without accidents. Even though we had stopped pushing him on potty training, he started to feel frustrated and would blame himself for not being able to feel. We tried to assure him that none of it was his fault.
We had been pushing him to do the impossible. Trying to lead him when we, ourselves, were in the dark.
It was also growing harder and harder to discuss our situation over and over and explain it to people not already familiar with bits and pieces. The bigger my son grew, the more questions we received, because diaper changes were still a regular occurrence for us. It became harder to ask for help and to seek caregivers or daycare because of his age and needs. Martin couldn't do all the activities other kids could, including participating in sports and attending school and enjoying sleepovers. There was a constant apprehension of accidents and embarrassment. It broke our hearts to see Martin missing out, held back by something beyond his control. It hurt even more to feel that we may have made it worse. We had been instructed to attempt traditional potty training with a child who's bowels were anything but traditional, and now for the first time Martin felt there was something "wrong" or different about him as a result. So, we backed off and remained in a limbo, unsure of how to proceed.
Then, eight months later, I found out about Boston.
Dr. Belinda Dickie, a general surgeon, had come over from Cincinnati Children’s and started a Pediatric Colorectal and Pelvic Malformation Center at Boston Children’s Hospital a year prior. She had studied under Peña and recognized the obvious need in the area. This was the closest we had ever been to someone who was actually an expert in anorectal malformation, and I knew Martin needed to see her as as soon as humanly possible.
I immediately began working on gaining prior authorization for a second time. Again, I needed a note of medical necessity from a specialist. And, again, because a specialist did not exist, Mainecare wanted me to bring Martin to a gastroenterologist. After some back and forth, the doctor wrote a letter of medical necessity and it was submitted to Mainecare. Mainecare then went back and forth with mail and paperwork and phone calls for months, giving me no answer as to whether or not my son had been approved for anything beyond an initial appointment and imaging. Boston Children’s, however, was insistent that he would be approved, so we booked a cheap hotel and traveled to Boston. The staff helped us fight with Mainecare right up until 7 a.m., the morning of Martin’s appointment, when he was approved.
Dickie took one glance at Martin’s bottom and a very stern look crossed her face. She told me there were four things working against my son's chances of success. The first and least worrisome was the shape of his butt. He has a pretty flat butt, without much muscle tone or definition. The second was his tethered spine, which is never a good omen for the nerves below the waist. The third was how “high” his rectum originally sat. The closer the rectum is to where it was supposed to be, the easier it is to fix. Martin’s was in the mid range. The fourth was Martin’s sacral ratio measurement (SRM). This is a measurement taken of the sacrum that indicates how much of it is intact. Kids with anything smaller than a 0.4 rarely achieve continence, kids with a higher SRM usually have a better chance. Martin’s is 0.48, slightly above that cusp. Taking all of these things into consideration, Martin had a 50-60% chance of attaining continence.
But that was before his botched his pull-through procedure.
Dickie explained that when inexperienced surgeons attempt the procedure, often times they do not attach the rectum to the correct spot. Martin’s anus is up higher than it’s supposed to be on his posterior, which means it’s not connected to any muscles or nerves he does have down lower. That mistake cut Martin’s chances down to 15-20%.
People were shocked that we had been carrying all this around with us for years, with no one to turn to.
For years my poor child has been trying to control his bowels with zero sensation. We had been pushing him to do the impossible. Trying to lead him when we, ourselves, were in the dark. I immediately burst into uncontrollable sobs and had to leave the room. All the pent-up frustration of no one listening when I knew something was wrong boiled up and bubbled over. My despair was so heavy I felt like I might collapse.
On the drive back home our sadness evolved into anger. We couldn’t believe this had happened to Martin after fighting so hard to prevent it. Our first reaction was to seek legal advice, because this all felt so wrong. We figured if Martin actually had a case and won, we would be able to pay for the surgery and continuing care. I personally contacted and forwarded medical records to every malpractice lawyer in the state who would give me the time of day. Many reviewed the records and considered taking the case, but Martin’s statute of limitations was a six year period from the date of the botched surgery, leaving us only three or four months to file. No one would touch it: there was simply not enough time.
In the meantime, I had returned to the familiar drawing board of attempting to get approval for now another out of state surgery through Mainecare. Even with the GI doctor, two surgeons from EMMC, and Dickie all advocating for Martin, Mainecare refused.
It took months just to process all the rejection and injustice we had been handed. Knowing Martin had lost invaluable years of practice and would now endure more suffering through no fault of his or ours was almost too much to bear. Though we didn’t want to think about uprooting our family again and taking Martin away from all his loved ones, it was the only option we had left. Specialists for Martin’s condition are still few and far between. There are only a handful of colorectal centers in the U.S., all of them far away or in areas way too expensive for us to survive.
When we found out the colorectal center headed by Peña relocated from Cincinnati to Aurora, Colorado, the prospect of Martin finally getting the best care possible and being given a fighting chance seemed feasible.
We just had to move 2,200 miles away.
We have always tried to be up front, honest, and sincere in our interactions with Martin, and have found it is always better that he know the plan for everything ahead of time. It makes it easier for him to cope with transition. On Christmas Eve, after weeks of mentioning in conversation to him that we may be forced to move very far away to get a good doctor to help him and getting no response, Martin sat on the floor in his father’s lap and cried. He was heartbroken. He had just said goodbye to all his dear relatives and friends in Connecticut; his only comfort being the fact he had loved ones in Maine to go home to. He was also scared to undergo yet another surgery.
We cried with him and held each other and tried to just accept it.
I started fundraising efforts to help pay for the enormous expense of moving everything and paying to get into a new home. We sold all the possessions we could possibly go without. I created a fundraising page for Martin where I was finally able to write his entire experience, beginning to end. (The page still exists, and donations are still needed.)
When people ask who is going to pay for universal healthcare for our kids, my answer is this: the kids will.
I had a few discussions with Martin about his feelings regarding telling his story. Together, we came to the conclusion that while breaking his privacy by sharing his story may be a bit embarrassing, it would be worth it if it helped raise awareness for other kids like him and helped us reach our goal of moving to Colorado.
The outpouring of love and support we received from everyone around us was overwhelming. To go from feeling so alone and lost to sudden understanding and empathy is a surreal experience. People were shocked that we had been carrying all this around with us for years, with no one to turn to. We were moved to tears many times by our community’s kind words and generosity.
Right now, my husband is in a Denver motel room in between job interviews and house viewings while I sit in my parents' house, all our things packed into storage or laundry baskets in a spare room. My husband will, hopefully, work third shift while I pick up shifts sporadically and homeschool Martin. Most likely we will be going without a lot of comforts for a while, and we know it’s going to be extremely hard. But we do have hope: hope that, when Martin’s next surgery is over, my perfect baby boy — the baby boy I held on my chest and promised the world to — will finally get everything he deserves.
But with that hope, comes anger. My son is not a guinea pig. He should not ever have been treated as such. We live in a midst of a broken health care system; one that lets kids that truly need help fall through the cracks every single day. It is abhorrent that in this year, in this country, children are forced to endure these types of atrocities simply because their parents do not make an obscene amount of money. And it is absolutely heartbreaking to think about the number of children who are not getting the basic care they need; children who never asked to be brought into this world under these circumstances.
To look at Martin or at my family, you'd never guess we've overcome so much, or that we still have so much to conquer. But you could easily say the same of any family: there are thousands of children in this country struggling with both noticeable and unseen ailments every minute. We are failing them. When people ask who is going to pay for universal healthcare for our kids, my answer is this: the kids will.
My son already has.