When Keegan Joines was born as a low-birthweight baby, his parents saw the rough start as a mere bump in the road.

“He plumped up quickly and everything seemed fine,” said his mom, Susan Joines, an elementary school assistant and pediatric nurse by trade who lives in Castle Rock.

But by the time he was a year and a half, the Joineses were noticing developmental delays, including in walking and speech. A year later he would be diagnosed with Type 1 diabetes, an autoimmune disorder that destroys the body’s ability to create insulin, a vital hormone that allows the body to use glucose for energy.

“We noticed more global abnormalities and we always just kept thinking, ‘Something is related here. These are not all separate instances occurring.’”

Little did they know that, half a decade later, Keegan would be diagnosed with a rare genetic disorder — KCNJ11, which affects the pancreas and the brain, resulting in developmental delay and juvenile-onset diabetes; the diagnosis was one of only 30 identified cases in the world at the time similar to his.

Even with the diagnosis, the search for answers continues, as the Joineses await therapies that could unlock his potential, allowing him to develop beyond the kindergarten-to-first grade level he functions at as a 10-year-old — or could have no effect at all.

“Unfortunately we don’t know what his future is — and you never can, even with a well-researched disorder,” his mom said. “Of course, the sky’s the limit for these kids. But, without having much research, we just don’t know what to expect.

“There’s just not enough kids like him to know.”

  

‘Diagnostic odyssey’

Alone, rare disease can be isolating. The U.S. National Institutes of Health defines a rare disorder as one that affects fewer than 200,000 people nationwide — a definition created by Congress in the 1983 Orphan Drug Act, which established financial incentives for drug companies to develop medications for such conditions.

Collectively, however, rare is common, with approximately 7,000 known diseases affecting an estimated 25 million-30 million Americans — nearly 10% of the population, according to the National Human Genome Research Institute. Worldwide, 263 million to 446 million people are affected by rare disorders at any point in time — between 3.5% and 6% of the global population, according to a 2019 article in the European Journal of Human Genetics.

With nearly 1 in 10 Americans — and Coloradans — affected by rare disorders, we likely encounter them daily — at schools, at grocery shops, at places of worship, at workplaces. Some prefer to keep quiet, realizing the likelihood of being misunderstood is much greater than that of finding common ground. Others become vocal advocates, on a quest to raise awareness of a disease very few — if any — others have been diagnosed with. Others yet are oblivious to their disorders, on a quest for an answer to their health maladies that may never materialize.

The quest for a diagnosis the Joineses were on seemed foreign, rare, esoteric. But patients with rare disorders, on average, spent six to eight years — and often untold thousands of dollars — searching for an answer. While waiting, there's the uncertain no man's land of "undiagnosed," a label that can call into question one's symptoms and even one's sanity.

And when a diagnosis is finally received, it's not always the right one.

“It's hard to diagnose people (with rare disorders) — it takes a really long time,” said Dr. Anne Pariser, director of the Office of Rare Diseases Research at the National Institutes of Health’s National Center for Advancing Translational Sciences.

“This happens so often in rare diseases. We call it the diagnostic odyssey.”

Beyond frustration, accompanying the diagnostic odyssey are consequences that have the potential to take a toll on health and finances.

“Being undiagnosed carries a substantial monetary and also human cost,” Pariser said. “People are treated for the wrong disease. They don't receive therapies that may be available, or there aren’t specific ways that we can intervene to lessen suffering.”

Pariser cited a 2019 study by the EveryLife Foundation for Rare Diseases that estimated the economic cost of nearly 400 rare diseases in the U.S. that year at nearly $1 trillion, surpassing the estimated economic burdens for diabetes, heart disease and cancer — among the costliest common chronic diseases.

There’s a mental cost, as well. Without a diagnosis, Susan Joines spent years attributing Keegan’s issues to pregnancy complications.

She blamed herself.

“I had to go on beta blockers just for myself to survive because I wasn’t profusing to him well,” she said. “He just wasn’t thriving super well in my body. As we started seeing the gap widening between him and his peers, I was just like, ‘I should have done better.’ That mom guilt just never goes away, because it always feels like you could do more. Even with your neurotypical kids, you always feel like you’re not doing things well enough.

“It’s especially hard with a kiddo with extra needs because there's always so much you feel like you should or could be doing.”

Complicating each patient’s search for answers is the reality that every rare-disease patient is unique. A patient’s symptoms can be caused by a single gene or chromosomal abnormality; multiple genetic errors; nongenetic factors; or a combination thereof. Even those considered to have the same disorder can have similar but distinct genetic errors that result in different presentations and health outcomes.

When “we think about rare disease, each patient is essentially unique in their characteristics — and that makes studying them, diagnosing them and understanding the public health impacts of rare disease patients very, very challenging,” said Melissa Haendel, chief research informatics officer at the University of Colorado Anschutz Medical Campus and director of the National Center for Data to Health.

Case in point: You’ll find differing estimates of the number of rare diseases, depending on the source and the country the data originates in — more than 7,000, according to the National Institutes of Health; between 5,000 and 8,000, according to the World Health Organization; more than 6,000, according to Rare Diseases Europe.

“Why do we care about how many rare diseases there are? Despite having 10% of the population potentially having a rare disease, the inability to count them really underlies an inability to identify them in the first place,” Haendel said.

“It’s not the count that we care about. The fact that we can’t count them is an indication of our inability to understand and define them, to diagnose them, to treat them.”

      

Zebras, not horses

For Elliott Wellnitz, 3, of Colorado Springs, the diagnostic odyssey was blessedly short — seven or eight months, as his mom, Christine, recalls.

A few things were “off” during the pregnancy — Christine had only one artery in her umbilical cord instead of two, and Elliott was born prematurely — but “we didn’t know at the time we were going to have a special-needs kid,” she recalls.

But soon medical providers began to point out other anomalies — a widely spaced big toe, port wine stains under his lips, an abnormally large head.

A basic genetic test showed no abnormalities, nor did a more sophisticated test.

The Wellnitzs were sent home with a tank of oxygen, a myriad of specialist appointments and no answers.

Several months later they learned he had Megalencephaly-capillary malformation syndrome — an exceedingly rare genetic syndrome involving developmental delay, intellectual disability, poor muscle tone, parts of the body that are larger than usual and epilepsy. The disorder places patients at risk of fluid buildup in the brain and of cancerous tumors.

For Christine, the diagnosis has meant wearing more hats than parents already wear — those of honorary therapist and educator, and that of an actual nurse.

“When we got out of the hospital, no one pointed me in the right direction,” said Christine, a hospice nurse whose husband stays home and cares for their son. “I kind of had to figure it all out on my own. To me, that’s the most frustrating aspect of this journey.”

Susan Joines ran a group for special needs families where she lived last, working as a parent liaison to the early childhood education system. She found that many parents of children with rare disorders are “desperate for answers and support and help.”

“I feel like very rarely do we get all three of those — or even two out of three of those — from providers.”

She’s encountered a wide variety of personality types in doctors over countless visits, from the kind who say, “Wait, give it time, they’ll be fine, and then they’re 16 and end up with an autism diagnosis” — to the ones who say, “Here you go, here’s your child’s list of problems, and we’ll see you later, completing writing a kid off.”

The former have served as roadblocks, the latter sources of immense hurt and devastation.

A psychologist once administered an IQ test on Keegan without Susan's permission or understanding, then delivered dismal news.

"Essentially they just said he was in the bottom 15th percentile, so probably under 40," she said of his score. "Just basically, 'Here is his IQ, and most likely he'll never live alone, he'll never be able to have a job or live independently,' and they just kind of left it there. We were like, 'Should we follow up with you?' They were like, 'No, this is it.'

"I feel like they gave him a life sentence."

With myriad rare disorders and such fuzzy definitions of many, it’s often a struggle to find a provider equipped to diagnose, no less treat, a rare disorder.

The problem at least partially originates in medical schools, where doctors in training are taught that “when you hear hoofbeats, think horses, not zebras — common things occur commonly. Don’t give somebody a rare diagnosis if they probably have a common problem,” Pariser said.

Providers need to be trained to look for “zebra triggers,” she said, invoking a symbol of the rare disease community: zebras, which each have a unique stripe pattern, as humans do fingerprints.

“We want (doctors) to think of zebras, and we want them to think of zebras when they start seeing certain clusters of things: young age, high (medical system) utilization, multiple consults, having to travel great distances. Also, some of these what we call ‘basket (medical) codes,’ like ‘developmental delay’ or ‘motor delay.’”

“Rare diseases — we have many, many diseases that affect small numbers of patients each and very few treatments. But when you consider this collectively, it really is a large public health problem.”

     

‘How long is my child going to live?’

Even with a diagnosis, the future is uncertain for Keegan.

Now 10, he performs in school three to four years behind grade level, “even with extensive developmental services,” Susan said.

“We’ve exhausted just about everything we think we can think to do for him. He struggles greatly with academics. He still can’t write his name. He still isn’t reading well," she said, adding that, regardless, Keegan is a joyful, humorous child who loves life, his family, school and friends.

“To get him to recognize the word ‘the’ — that’s a (school) goal for him, to have an 85% success rate on just recognizing that word. He’s in a severe special-needs program. We aren’t seeing progress like we hope. Just from the little bit we do know, early to late elementary school is typically, developmentally, where they see him maxing out."

For Christine Wellnitz, receiving a diagnosis was comforting — but it didn’t come with a road map of what to expect.

“It was definitely a huge relief when there was actually a name for what he had,” she said. “I cried. But there wasn’t a whole lot of information, even on life expectancy.

“How long is my child going to live?”

A Facebook group Christine joined, for those affected and their families, has a couple of older patients in their 30s and 40s, “and that makes me happy.”

“But beyond that, we don’t really know, and that’s pretty scary. I always tell my husband, 'Right now we’re doing pretty good, and things are going pretty well, but I never hold my breath,' because every time I think that, something else pops up, or we need to see another specialist.”

Elliott’s pediatrician is supportive but doesn’t have much to offer in the way of specialized knowledge.

“Our pediatric doctor basically just goes with whatever I want,” Christine said. “If I call and say, ‘I think I need this,’ she usually does it. I think part of it is because I’m a nurse. I love our pediatric doctor, but I feel like there should be more specialists in town.

“I really have no idea exactly where my child is” when it comes to development. "I just know that he’s somewhat delayed.”

When it comes to enrolling her child in school and ensuring he receives proper education and support, “I don’t even know what the next steps are. I hear the school districts aren’t great when it comes to working with special needs children, and that just puts fear in my heart.

"I haven’t heard of one good district in this town, unfortunately."

For Susan Joines, looking to the future is equally tough.

“My husband and I frequently think we might be forever-nesters,” she said. “There’s such a grieving process — we will never put a cap on him, of course, but it is a process of this potential grief of maybe not achieving the life we hope for him. He may never drive. He may never graduate. He may never have a job. He may never get married. We may never see grandkids from him.”

"Maybe we will," she added hopefully.

Susan leans on her personal faith in the fact that God made her son for a purpose and has plans for him.

"But it’s definitely not without grief," she said. "It’s the heaviest and hardest thing we deal with on a regular basis."

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