Childhood disabilities with no diagnosis

From CTV.ca News in Canada:

After Jennifer Johannesen's son Owen (pictured) was born seven weeks premature and spent three months in intensive care, she knew he would have challenges.

"They told me he might have some of the same issues of other preemies, with developmental delays, that he might need glasses, but that he'd be otherwise okay," she tells CTV.ca.

But Owen failed to grow. He missed milestone after milestone, and by the time he was one and a half, Jennifer realized there was something wrong.

Eleven years later, Owen is fully dependent on his mother. The size of five-year-old, he doesn't sit, stand, eat on his own, or hold his head up. He is deaf and communicates only through facial expressions and vocalizations.

And doctors have no idea why.

Owen doesn't have muscular dystrophy. He doesn't have spina bifida. Although he has some of the hallmarks of cerebral palsy, that alone does not explain his condition.

He's been tested for every genetic disorder and disease that his doctors can think of, and yet no one has been able to give a name for Owen's "constellation of problems," as his mother calls it.

"So from Day 1, we've had this mystery," Jennifer says. "We've done brain MRIs, spinal taps, muscle biopsies, skin biopsies. We've done blood work that got sent to the Mayo Clinic. Every few years, a new slew of genetic tests becomes available and we try them. And all of it has come back negative."

Having a child with severe disabilities is hard enough for any parent. To have a child with disability who's a medical riddle makes it even harder. With no clue as to what went wrong and no idea about what to expect, parents find themselves floating in a sea of unknowns.

The parents of children with no diagnosis are rare but face unique challenges, says Barb Germon, a social worker at Toronto's Bloorview Kids Rehab.

"One of the key feelings from not having a diagnosis is uncertainty and worry," she says. "These parents are in a state of limbo because sometimes they might think the worst and then at others they have no idea."

Germon says it's natural for parents of such children to want answers. But when years go by and those answers don't come, there comes a point when parents have to let it go.

"We find that these parents put a lot of their energy into that search. And when you don't have a diagnosis... it can be exhausting," she says.

Many times, parents who search desperately for answers neglect not only their own needs, they risk hurting the child they are trying to help.

"We need to remember that kids do pick up on their parents' anxieties. So if your parent is constantly focusing on your disability rather than your ability, that can send a message to that child," says Germon.

"In the parent's heart, they want to give their child the best opportunities. But in the child's mind they hear, 'I'm broken and need to fixed and I'm not okay the way I am.'"

Jennifer says she decided early on to limit the search for answers and focus instead on meeting Owen's needs.

"I just said: he is who he is. It's not going to help me to fill the doctors' need to investigate and understand. I started to aim to meet him where he's at, instead of trying to focus elsewhere," she says.

"In the end, it doesn't actually matter," she believes. "Because the things they had been testing him for, you can't do anything about anyway."

Max Sexta's mother made that realization early too. Her son Max was also born physically disabled, unable to move from the waist down. Katharine believes Max became paralyzed sometime during her pregnancy after she felt him stop moving in the womb.

Like Jennifer, she agonized in her son's early years as she took him to test after test that yielded no results.

"I used to spend a lot of time being anxious and worrying about him. And then one day, I sort of rolled it all over and decided it was enough," she says. "I decided that as long as his body was healthy, as long as he was growing, as long as he was bright, as long as he was confident, I couldn't care less what label he had."

No diagnosis also means nowhere to belong, says Katharine. Many of the friends Max has made at school have cerebral palsy. And yet he can't attend events or pre-teen social groups funded by CP foundations because he hasn't been diagnosed with CP. Nor can he access funding or therapy programs designed for kids with CP.


"So not having a diagnosis means not having support. No financial support, no emotional support, no social support. You really are an island," she says.

At Bloorview, the focus is turning away from medical labels and instead on the needs of the child. So, for example, workshops for parents are based on issues that are universal to disability, such as finding appropriate special education, learning about new treatments, accessing programs and therapies, and dealing with able-bodied siblings.

While parents of children with no diagnosis have no road map of what lies ahead, there can be a positive side to that, says Bloorview's Germon.

"When you're dealing with a condition where you know your child will deteriorate, there's what we call 'anticipatory grief' about your child losing their skills," she says.

"A diagnosis can restrict your views so that everything is seen through the lens of the diagnosis and you forget to focus on letting your child just be a kid."

Jennifer says she's glad she didn't know early on in her journey with Owen what she knows now.

"If I had known when he was three what he was going to be like this at 11, I... well," she says, trailing off.

"I've seen many people who get a prognosis," she continues, "and they say, 'Well, what's the point?' or: 'Oh my God, what am I going to do when he's a teenager? How can I do this?' If I had had all that rehearsal when he was younger, it would have killed me."

Not only has she realized that a prognosis doesn't bring peace, there are no rules when it comes to a child who is a medical mystery. Owen has had many ups and the downs over the years, and last year, a new health crisis forced her son into critical care for months.

"It's made me realize: you can throw all the prognoses and statistics you want at me; at the end of the day, it's all random," she says with a small laugh. "It doesn't help me to assume what's going to happen next because we'll never know."

Bloorview's Germon says that holds true for any child with a disability.

"Not everyone has the same experience or the same long-term outcome, even when you do have the same diagnosis," she points out.

"So that's why we tell parents it's important to just be a parent, and enjoy quality time with your child and other members of the family and be emotionally available to your child and to provide them the love they need."

Katharine says that's the attitude she's taken with her son Max.

"I am the epitome of living in the moment. I only live a week or so ahead, because if I start to think about what his life will be like, I don't have answers."