Tara Schmiedge curls up on a pile of fluffy white pillows, swinging on a circular bed suspended like a cloud from the ceiling of her basement living quarters.
Her mom, Margot, crawls in next to her, iPad in hand, to look through family photos. Childhood scenes of Tara and her three sisters quickly transition to a newborn baby, pink and swaddled — Tara is now an aunt, and Margot a grandmother. The two laugh as they sway gently back and forth, two peas in a floating pod.
Tara, 25, has Kabuki Syndrome, a relatively rare genetic disorder that causes cognitive delays, behavioural issues and a wide range of medical problems.
These days, Tara is at ease in her world. She shares a northwest Regina home with another young woman with a disability and the support workers who come and go around the clock. She has a specially designed, one-on-one day program that meets her needs. Her parents, Margot and Dean, visit regularly and make sure her life is full of love and encouragement. They have fought tirelessly to make sure she has adequate support to do the best she can with her abilities.
As most families with a disabled child find out, it’s never easy.
The Schmiedges started taking Tara to Winnipeg for sensory therapies as a preschooler, before she was diagnosed. They knew she had cognitive delays, something they could see when comparing Tara’s development to that of her two older sisters, Leah and Kyla, and younger sister Erica.
Doctors originally thought Tara might have osteogenesis imperfecta, since Margot had a family member with the congenital bone disorder.
“We knew that wasn’t likely the right syndrome,” Margot said, noting Tara’s cognitive delays didn’t fit that diagnosis.
Then Tara was diagnosed with Kabuki Syndrome by a Winnipeg geneticist at four-and-a-half years old. It was a relatively newly-categorized disease, first described in 1981 by Japanese scientists.
“Having a child with a disability can really make you feel like an island,” Margot said, tucked into a comfortable chair in her home a few minutes’ drive from Tara.
“You try to maintain your friendships from before, and you do, but your life goes in a whole different direction than the majority of people.”
It was that isolation that encouraged Margot to pen a letter in a medical genetics journal about a year after Tara was diagnosed.
Using a family friend’s then-advanced method of communication — an email address — she was soon inundated with requests to keep in touch and share information about Tara’s development and challenges. They quickly had to invest in a computer and a dial-up Internet connection of their own.
A website was also necessary. But in the mid-1990s, it wasn’t quite as easy as it is today to post things to the mysterious world wide web.
Margot enlisted the help of her brother, Ed Zwart, and his partner Janice Banser. The two technophiles made Margot’s dream for a network where families could connect and share information a reality.
And so the Kabuki Syndrome Network (KSN) was born. If you search Google for Kabuki Syndrome today, it is still the top hit.
Over the past two decades, Margot has fielded thousands of requests for information in multiple languages from her home. Some were from researchers; other requests were from families unsure of where to turn with their new diagnosis.
Her background as a nurse — she stopped working when Tara was born — helped in explaining the complicated terms to other parents, including writing a medical dictionary.
Newsletters were the next step. They were printed and mailed out for years, before moving to an online format. Brochures came out in several languages — Margot got a language school to translate portions of the website into Spanish to meet demand. She even reached out to geneticists and doctors to write articles that the average parent could understand.
“Little things like that started adding up to provide a bigger source of information,” Margot said. “It’s funny how things snowballed. I never set out to do this, never.”
From supporting newly-diagnosed families reaching out for help to assisting doctors looking to explain the disorder in layman’s terms, the quiet force behind a mountain of information has been passionately advocating not only what’s best for Tara, but what works for other children around the world with the condition.
“She’s really an amazing, one-woman magician,” said Dana Levinson, a Minnesota mom of a seven-year-old girl who also has Kabuki Syndrome.
When Levinson’s daughter was diagnosed as an infant in 2008, she soon found there wasn’t much local support for a syndrome with an incidence rate somewhere around 1 in 10,000. Reaching out to Margot and the KSN was a major step in learning how to live with the diagnosis.
“Kabuki was first discovered in the 1980s and really since then (Margot)’s been the main person providing info, identifying professionals, connecting families,” Levinson said.
Levinson not only wanted to learn more about the syndrome but also become involved in helping shape what the KSN could become. She’s leading the organization’s efforts for the first-ever Kabuki Syndrome conference, which will take place at Johns Hopkins University in Baltimore this summer.
Meeting other families who have a child with Kabuki Syndrome has been “so helpful”, Levinson added.
“These are kids that tend to have developmental issues. My daughter wears hearing aids and she had a feeding tube, so just meeting other kids that may have had similar experiences is good for her for having a social support group, too.”
KSN has been a support for the Schmiedges too, leading to long-term friendships and visits while vacationing, but it didn’t always hold the answers to every problem.
“Tara is definitely on the higher end of physical disability and sensory issues and because of that she had many, many behavioural issues from about 13 on,” Margot said.
It was something that the family had to face mostly on their own. Their lives got “very complicated.”
In some instances, Tara would hit and bite. Her obsessive tendencies and anxieties were a part of daily life.
On a family camping trip, Margot brought along Tara’s favourite cookies — a huge motivator for Tara at the time — but she wouldn’t eat them. She barely touched food the whole weekend.
“We get back home and we’re unpacking the food, and she brings her cookies to the cupboard where the cookies go. She sits down, goes back to the cupboard, takes the cookies out, and starts eating,” Margot said. “Those cookies had to come out of that cupboard.”
School also became too much for her. Tara stayed in high school until 22, but was only managing a couple of hours per day by her last year.
Judy Humphries, Tara’s former student support services teacher at Michael A. Riffel High School, said the system can be hard to navigate for parents who aren’t sure what their options are for their child’s post-high school life.
“The transition is difficult sometimes for the students themselves, because they’ve been at their particular school for up to eight years, some of them. It’s hard to leave,” she said.
For students like Tara, the existing day programs may not be the right fit.
“There were things that Tara’s parents knew would not work for her,” Humphries said. “They could’ve just thrown up their hands and said ‘We give up, wherever she ends up will be fine,’ but that’s not what they did.”
Instead, Margot designed a day program for Tara that comes with one-on-one support. She does various tasks during the day, from collecting recyclables to delivering Meals on Wheels. In summer, she likes watering community gardens.
It’s a different path than some other young adults with disabilities take, and one that required letter-writing and many meetings.
“I’m a bit of a doer myself, it’s in my nature. We had to really fight to get her what she needed,” Margot said.
“All young people with cognitive disabilities should have those kind of parents,” Humphries added. “They need someone that’s just looking out for them.”
Tara was finally designated as “complex needs” — a designation not given lightly.
It means Tara has access to special funding for her housing and day program.
The Schmiedges’ advocacy work for their daughter is far from done. Her home had three other young women with disabilities when she first moved in and Tara had daily meltdowns over the pressures of living away from her parents and the constant stream of visitors and staff.
“It was very, very difficult for Tara,” Margot said. “We tried to prepare her. We’d go to the house before anyone was living there, show her where her bedroom would be.”
But it didn’t sink in, and the first year was terrible.
Daily panicked phone calls begging to come home were hard to face.
But it was an important step for not only Tara to make, but for her parents, as they too needed to have some space. And once two of the residents were moved to a new home, it became a lot easier.
“I like that we get to enjoy her now. I really like that. It’s not that we never enjoyed her, but I really just enjoy her now.”
Tara is doing “amazing” these days, she added.
“She’s a sweetheart, an absolute sweetheart. Everybody that gets to know Tara falls in love with her. She has challenging behaviours but once you know how to go around that, she’s really very endearing and so truthful.”
The efforts they’ve put in over the years have not only improved their own lives, but those of many other families with Kabuki Syndrome. Yet, Margot doesn’t think they’ve done anything extra special.
“There are parents that believe that it takes special parents to raise a child with special needs, but I don’t share this philosophy,” she said.
“I think you have a choice to make when you have a child with special needs. You either work very hard at it, or you drown in the immensity of it. And I think Tara taught us the patience.”
What is Kabuki Syndrome?
— First described in 1981 by Japanese scientists and named after affected individuals’ facial resemblance to traditional Kabuki makeup
— Affects anywhere from 1 in 10,000 to 1 in 30,000 live births
— Caused by spontaneous gene mutation in one of two genes
— Wide range of congenital problems can result, from heart defects to kidney issues to recurrent ear infections
— Also a wide range of cognitive and intellectual disabilities, from mild learning disabilities to autism-like symptoms
— No known impact on lifespan, although the syndrome has only been described for 34 years
— Research continues into the genes causing Kabuki Syndrome. A recent study by Johns Hopkins researchers in mice with a genetic change similar to Kabuki Syndrome reports that the use of an anticancer drug can “open up” DNA, leading to improved mental function
Published on: October 15, 2015 | Last Updated: October 15, 2015