Why I Remain Ever Grateful to the NIH

Without question, the hardest period of my life came after giving birth to twins. My son was two when his sisters were born, and the physical demands of caring for three humans under the age of three were unending. I was on a perpetual hamster wheel, averaging 28 diapers per day, breastfeeding both babies and a pump, soothing two infants that didn’t sleep through the night, changing their clothes, keeping their hands, faces, and hair free of bodily spew along with the accompanying piles of soiled laundry, playing with, reading to, shopping for, taking daily walks with, rocking and singing to before naps, monitoring sniffles, belly aches, diaper rashes, etc. etc. etc.

Extenuating circumstances also added to the strain. My mother had recently died. My husband was starting a new software company. My father and my 97-year-old maternal grandmother, who were both relatively self-sufficient, still needed help filling the void my mother had left behind, and I was the only descendent living within 100 miles.

The biggest stressor, however, had started a few months before the twins were born when, during a routine ultrasound, doctors noticed a potentially serious condition developing in Twin A. My pregnancy was followed extremely closely thereafter, and I was reassigned to a different hospital with more specialists and an advanced NICU. The new obstetricians tried to reassure me by saying that in 50% of all cases, the problem usually resolved naturally and that a series of options with varying risks could be undertaken if the problem persisted. It was not the kind of information that any mother wants to hear, but I put the worst-case scenarios out of my mind and concentrated on doing my best to care for my pre- and post-delivery family members.

Luckily, I carried the babies to term and delivered without needing a C-section. I’ll spare you the details of the four sleepless and surreal months that followed their birth. It suffices to say that while Twin A appeared the picture of health and happiness whenever I laid eyes on her, lab results and various tests were leading her doctors to very different conclusions. One afternoon, I received a call from a post-doc fellow in the pediatric specialty department following her case. Over the phone, he explained that one of the specialists had determined my daughter had a very serious and rare genetic disease. He rattled off the acronym that defined her diagnosis and a one-sentence description that portended a slow and steady decline.

Receiving a call like this is impossible to describe. An overwhelming sense of dread came over me, releasing a flood of adrenaline that inhibited my ability to fully process what was being said. My mind was racing as I tried to grasp the repercussions that lay ahead, not only for Twin A, but for me, my husband, Twin B, and my son. The fellow admitted to knowing little about the chronic condition. It was exceedingly rare, and he didn’t have enough experience to answer any questions. He helped me schedule a phone call with the attending specialist who would be able to address my concerns. The earliest opening was in four days. In the meantime, however, there was a website I could visit to learn more. It had been created by the mother of someone with the same disease.

As soon as I hung up, I conveyed the grim announcement to my husband and went directly to the aforementioned website. That site turned out to be an incredibly good resource, and I don’t want to write a word that might disparage the people who ran it or assembled its content. But as I scanned those pages for the very first time, the question I most wanted answered was “how long can I expect my child to live?” The closest sentence I could find addressing my query said that only 50% of children born with the condition survive infancy.

I barely slept over the next four nights, spending the time usually allocated to rest on preparing for that phone call. When at last I spoke to the doctor who had pronounced the diagnosis, he seemed almost surprised by my concern. Yes, my daughter would survive her first year. She was in good health and medical breakthroughs were happening all the time. He wasn’t worried about her prognosis and was unsure about the 50% statistic. Many children were now surviving into their teens and beyond but he didn’t have data he could point me to. I decided to find a different specialist to oversee my daughter’s care.

The fact of the matter was that rare genetic diseases were not well understood at the time. Even today, very few genetic disorders can be treated with gene therapy. The genetic mutations that inflict damage on the body’s cells persist, leaving doctors to treat the undesirable side effects—often with pharmaceutical solutions. However, treating infants, toddlers, and children with drug therapies has its own dangers. Very few drugs are tested on these populations. A drug deemed safe for adults can turn out to be toxic for an infant. And yet, faced with no other options for curbing the nefarious symptoms of a particular mutation, pediatricians often prescribe drugs that have never been studied in the population that they serve.

I had no medical training, so to a certain extent, as the guardian of my daughter’s care, I had to rely on the doctor’s expertise. However, I was her primary advocate and I took this responsibility more seriously than any other task I’ve ever undertaken. I read everything I could find about her condition, the drugs she was on, and the experiences of other families dealing with the disease. The website I mentioned earlier became a lifeline where I could learn about recent discoveries, but also receive the support of other parents who had insights into what I was going through. Insights that her doctors were clueless about.

Luckily, the new doctor in charge of her case was a good listener. I felt we had a relationship of mutual respect. By nature, I’m a skeptic. I respond to evidence, not supposition, but I’m also willing to give most well-explained rationales a try. Treating my daughter’s symptoms with drugs proved difficult. With each new prescription came a new round of unwanted side effects. Luckily, her doctor listened to my concerns and was willing to reduce or eliminate her dosage. Likewise, when her symptoms worsened, I was willing to put her on a drug we hadn’t yet tried.

As my understanding of my daughter’s condition increased, I discovered several aspects of her case that were at odds with the expected trajectory. When I presented these anomalies to her doctor, he acknowledged my observations but held fast to the original diagnosis. I gradually came to interpret his position as follows. Whether or not my daughter had the designated mutation or not was of little consequence from a treatment perspective. Regardless of the form it took, her doctor couldn’t change the mutation. He could only treat the symptoms it provoked.

I understood the logic supporting this position, but as a mother, my daughter’s prognosis was equally as important as her treatment plan. I wanted to have as clear a picture as possible of what her future, and, by association, our family’s future, might hold.

Shortly after the twins’ first birthday, I learned of a study at the NIH that focused on my daughter’s presumed condition. I emailed the pediatrician of genetic medicine who would be looking at cases from all over the United States and we set up a time to talk over the phone. The data Dr. G collected regarding specific mutations and variations in patient outcomes would provide information about the disease that local specialists (who may only see a handful of patients over the course of their entire career) simply can’t obtain.

I was nervous for that first conversation. I worried that given my doubts about my daughter’s diagnosis, we wouldn’t be accepted into the study. She was hardly a textbook case and if the goal was to zero in on probable mutations and expected outcomes, my daughter’s situation—even if she had the disease—might be viewed as a complicated outlier. Another worrying factor was the idea of travel and putting my daughter through a battery of tests. After a year where I averaged 4-5 hours of sleep per night, I needed time to catch my breath before committing to this new phase of advocacy.

I expressed these concerns to Dr. G. and she immediately put me at ease. She would be happy to accept us into her study, and because this was genetic research, she was also interested in examining me, my husband, and my other children. She had several families already on her schedule and would be collecting data for months to come, so there was no need to hurry to Bethesda, MD, home of the NIH.

Six months later, the five of us boarded a plane for Washington, DC. Our travel expenses were covered and once in Bethesda, a room was waiting for us at the Children’s Inn, located on the NIH campus. Over the next several days, the Inn served as our home away from home. Appointments were scheduled around naps and time was allotted for play and a trip to the National Zoo.

Yet, our primary mission was to appear at an ambitious array of consultations and tests to collect baseline data—blood draws, imaging, electrodiagnostics, physical exams, interviews. This was the tradeoff I’d agreed to make and I wondered if our enrollment in the study had been worth it. My daughter had had no say in the decision. I was the reason we were there and I might never know if I’d done the right thing.

But there we were, a family, showing up at each successive exam as a unit. It’s true that one of us was withstanding far more intrusion than the rest, but the staff at the NIH made each visit as stress-free as possible. The waiting rooms were stocked with toys and some even offered inexpensive freebies that kids could take home, like a simple coloring book, a small puzzle, or a deck of Old Maid. There were activity cubes to climb on and storybooks to read. Each successive appointment offered a new assortment of options. The exam rooms were equipped with big screens and a slew of videos to distract the patient during testing. For a toddler, the place resembled Disney on crack.

The idea that an inn serving sick children and their families might turn out to be one of my kids’ favorite childhood vacation spots had never occurred to me. The Children’s Inn is a remarkable non-profit, run through generous donors and a small army of volunteers. Many meals were provided free of charge. But, there was also a communal kitchen and shuttles to a nearby grocery store if dietary needs required families to cook for themselves.

Each family had their own private room and bath, while common living spaces were never crowded. There was an indoor rec room, video game room, arts and craft room, a playground, and a library filled with children-centric media. Each family had their own mailbox and the day would start with one of our kids fumbling with the provided key to open the box and learn what lay inside. Lo and behold, the Santa-inspired mail carrier delivered three simple toys or activities each night.

While kids played, the parents talked, sharing their children’s conditions and the difficult journeys that had brought them to the NIH. Until then, I’d been so immersed in kid care that I’d given little thought to the myriad genetic diseases that affect some people from birth. Such diseases had always felt scary and uncomfortable but here I was the parent of a happy-go-lucky little girl who had received such a diagnosis, talking to parents of other happy-go-lucky kids in a similar boat.

Some of the ailments were far worse than what we were dealing with and yet it was evident that quality of life was still possible, even for kids with tremendous health issues. I’d always been determined that my childrens’ identity would never be defined by a diagnosis and now I was interacting with other families that proved this goal achievable.

Getting back to the study, Dr. G proved to be a woman I will forever admire. An immigrant to the United States, I have no doubt she was one of her native country’s best and brightest and we were lucky to have her. Few people embody both the fastidious work ethic of a scientific researcher and a warm and caring temperament. Dr. G was the consummate professional—calm, confident, and comfortable with all forms of input. She listened with an open mind yet relied on data to draw her conclusions.

Much to my children’s delight, we returned to the NIH two times before the study concluded, but that first trip was curative in ways I hadn’t anticipated. Dr. G entertained my suspicion that my daughter did not carry the proposed mutation. She hadn’t yet conducted the DNA tests, but she agreed that our case did not align with any of the other cases she’d dealt with. This alone was a huge relief.

She also said that from a clinical perspective, the local specialists overseeing my daughter’s care had provided perhaps the most thorough documentation she’d ever received. They’d left no stone unturned in trying to determine the root cause of my daughter’s symptoms and had provided detailed records of their painstaking investigation.

It took many years before my daughter’s doctor was willing to remove that initial diagnosis from her medical chart. But by the time she was eight years old, I was fully convinced that she was not on the same path as kids who live with the disorder. I stopped following the latest treatment advancements when my daughter became symptom-free. In writing this post, however, I learned that early survival rates are only slightly better than they were twenty years ago, with 33% of babies now dying in infancy.

I hesitated to share this very personal story on my blog but with the NIH’s future now in question, I felt compelled to write about what the institution has meant to me and my family. I can’t say that I knew what the NIH did prior to learning about the study we enrolled in. Perhaps I’d heard of it, but my vision of the place was woefully ignorant.

Research is a nebulous endeavor, filled with ambiguity and unexpected course corrections. So, part of me understands why people have little tolerance for funding a program that doesn’t promise concrete results. Yet, there are countless medical breakthroughs that owe their discovery and refinement to researchers at the NIH. And maybe it’s also worth funding programs that give families like mine invaluable support and hope for a brighter future.