When I held my sweet newborn moments after his birth, he was already swaddled. It was only three hours later, after a nurse offered to change his first diaper, that my life-partner Mark and I received the shock of our lives. Our child had no anal opening. Instead, his pale behind was completely smooth. There was no hole. There were no cheeks.
A doctor on call quickly arranged at 3am ambulance transfer to a hospital with a neonatal intensive care unit, as he need to have surgery soon to create a temporary hole near his belly button. Then she exited the room, offering no other information or resources about this condition. This was the first of many times that medical folks left us to figure things out on our own.
Alone, we frantically googled “no butt hole” on our phones, learning what we could, including that the condition is called imperforate anus . IA is one of 7,000 conditions classified as rare diseases, or diseases that affect fewer than 200,000 people.
The next morning at the NICU, we learned our child also has a condition with the acronym VACTERL because, in addition to IA, he has only one kidney and a then-undetermined spine abnormality. Eight months later, an MRI would show that he had a tethered spinal cord and five months after that, I’d have major spinal surgery to de-tether it.
Across his first eight months of life, he had three surgeries to enable him to have bowel movements out of a newly created anal opening. Even with these surgeries, because he has a severe case of IA, he likely won’t ever have control of his bowels and will use laxatives and enemas for life.
A NICU surgeon performed his first surgery and was eager to do his next two. After conducting our own research, we decided to work with surgeons at a colorectal specialty center in Columbus, Ohio, 400 miles away from our home in Virginia. We felt we made the right decision when we later learned that the surgical team spends part of its time fixing the jobs poorly done by non-specialized surgeons who don’t have the right knowledge and experience of such a rare condition, and yet attempt the surgeries anyway. It’s the children who suffer as a result.
We are lucky that his surgeries went smoothly, aside from his bladder not working for two months after his second surgery. We had to learn catheterise to him, a process in which as terilised tube is inserted into the bladder through the urethra, around the clock. The first few times, he screamed and it required both of us to manage the procedure, but soon, he grew used to it.
In his bathroom at home, I hung bright Christmas lights, brought in balloons and played music so it was a cheery place for him to go. Already at that time we were managing an ostomy bag - essentially a small plastic bag we learned to adhere to his side into which he pooped - and so we spent a lot of time in the bathroom. We had to carefully monitor his fluid intake so his bladder wouldn’t grow to be too full before we catheterised him. Managing his care while traveling hundreds of thousands for his doctor appointments and next surgery was a challenge and we really appreciated places that had changing tables.
Little did we know then that this was the relative calm before a troubling time in his health.
Our child’s conditions came with many daily challenges. One of the biggest ones that we puzzled over was how to scream and cry throughout the night even though during the day he was largely a very happy, smiley baby. In fact, when he was six-months-old, a nurse at the hospital commented that he was the happiest baby she’d seen after surgery. But at night he seemed to be in frequent pain.
By the time I’ve reached nine months old, he woke screaming up to 11 times per night. I got up each time and cared for him. There were many days I’d sob from exhaustion. If I didn’t have the option to work from home, I’m not sure how I would have kept my job.
Repeatedly, I brought up his sleep problems with his paediatrician and therapists, with his nephrologist and various urologists, with the colorectal team, with hospital staff and our family and friends. I researched online. We tried reflux medicine, soothing baths and even hired a night nanny one night. Nothing helped.
Most often, doctors, family and websites told me, “Let him cry it out.” In complete desperation, I tried that a few times, but he would scream and cry for over an hour straight. I’d give up and go to him. I was quite certain he was waking from pain and I didn’t want him to be alone.
Then, a really alarming phase in his health began after his spine surgery at 13 months. Soon he was in and out of the emergency room or hospital nine times for issues like dehydration, vomiting and low temperatures, as well as an infection of the surgical site after his spine surgery and parainfluenza. He had eight urinary tract infections, which is scary for someone with one kidney. A pattern emerged that about two days after I stopped an antibiotics course, he began to grow sick again. Due to all the illnesses, he was delayed walking and hitting other developmental milestones. I have stopped growing.
Mark and I were constantly on edge. We wondered how we could get him well. I wrote out lists and dates and facts about each illness, trying to spot the patterns, and brought it to every medical appointment, urging the staff to look at it and help us find the answer. We changed paediatricians. We sought out new specialists. No one could help us. They’d just send us on our way.
We didn’t know it then, but the sleeping issues and many of the illnesses were related.
One night when I was online grasping at any leads, I came across the organization One in 5000 Foundation for people with IA. The founder, Greg Ryan, immediately responded to my message and became my lifeline. I have suggested a doctor in South Carolina who specialized in IA. Quickly I contacted the office and set up an appointment. I learned this doctor regularly helps families from all over the country who, like us, are desperate for answers.
When our child was nearly 18 months old, we flew to see the doctor. After looking at images of his anatomy and medical records, the doctor told us he understood what was wrong.
“He has a neurogenic bladder. He’s never had normal bladder function and when you’ve seen him urinate, it’s been from bladder spasms, ”he said.
Some of the many tests our child had undergone before showed he had spasms, but the multiple urologists who examined him didn’t known that was how he was urinating. They also had told me the spasms weren’t painful. This doctor, however, told us they were and the frequent waking, bladder infections and vomiting were connected to the spasms.
I teared up hearing confirmation that our baby had been in pain - for his whole life. I was glad I never forced him to “cry it out” for long or spend a single night alone. The doctor also told us the spine surgery had amplified the issues and that’s why he began growing sick frequently after it.
The doctor and his team put in prescriptions for medicines to stop the spasms and informed us that since our child would no longer be urinating, we would need to use a sterile catheter process to extract his urine every three to four hours - and likely he’d need to do this for his whole life.
Because he should have been using a catheter from birth but we didn’t know this - no doctor had told us so - his bladder had experienced damage. If I’ve been properly diagnosed and treated earlier, there was a chance but have bladder function one day, but now, the doctor didn’t think he ever would.
This news overwhelmed, saddened and shocked us. We’d made peace with him likely never having control of his bowels - but now his bladder, too? The logistics alone of catheterising a wiggly toddler six times a day and overnight indefinitely was a lot to take in, and we also feared for his future.
Part of me felt furious with the prior medical folks we’d seen who hasn’t known how to help our son, and I also felt guilty and mad at myself for not trying harder to find help sooner. For months and months, he’s been in pain and sick, and his bladder function had also suffered.
Of course, I also felt grateful that we finally found someone with answers and shuddered to think what would have happened if many more months had gone by without this help. I worried about all the other people in our position who didn’t find the right doctor, or who couldn’t afford to travel to see specialists. What happens to their kids?
Before we left, a nurse on the team told us about the Pull-thru Network and private Facebook support groups for people and families with conditions like my son’s. Now I turn to these communities for advice. They’re mainly populated by other moms who share their experiences and what’s worked, and thank goodness, since it’s so hard to find doctors with answers. From these other moms, I know I can ask about a topic like catheterising and using enemas on children at various ages and stages.
The good news for now is that thanks to the South Carolina specialist’s guidance about medicines and catheterisations, our child has been healthy for nearly three months. He’s caught up on his development markers and recently started preschool, which he loves. He also sleeps better at night since he’s not in pain, and that feels like a miracle. We hope every day he stays this way.
This is Rare Disease Week and I learned the hard way - likely at the expense of my child’s bladder - that rare diseases are so uncommon that most medical folks haven’t encountered them and simply won’t be able to help when issues arise.
It is up to parents and guardians to advocate as best we can, to research, to ask and to try not to give up. It can be exhausting to keep searching for an answer, but I saw repeatedly that if we don’t advocate for our kids, no one else will.
Holly Kearl is the founder of Stop Street Harassment and a community manager at The Aspen Institute. This article first appeared on HuffPost US Personal.