“We knew Mitchell was special,” says Lynn Hainer of her four-year-old son. “But we didn’t know he was one in a million.”
After a long search, Mitchell was recently, Mitchell was diagnosed with Pitt-Hopkins syndrome — if it sounds unfamiliar, that’s because it is. There were 150 reported cases of the genetic defect in the world in 2008, which leads to delays in mental development, seizures, and, interestingly, a cheerful, smiling disposition.
Co-incidentally, Feb. 28 marks Rare Disease Day — an umbrella day which seeks to bring attention to the multitude of rare conditions which lack the political and financial clout to gain attention individually.  Rare diseases can be chronic, progressive, degenerative, and often affect children.
For Lynn and her husband Rick, it took about a year to realize that their baby was different — concerns that started when he wasn’t sitting up by nine months blossomed by the time he turned one.
“On his first birthday, we decided he needed a referral to a pediatrician at Sick Kids,” Hainer explains. She had just returned to work after maternity leave; the family was living in Toronto at the time.
“As a parent, you don’t know where to start from a healthcare perspective,” she says, but having a sister doing her doctorate internship at a children’s hospital in Philadelphia was a big help; she gave Hainer a list of what to ask for.
With the list in hand, the Hainers began trying to schedule various tests to determine what was affecting their son — and despite all the resources available in the Greater Toronto Area, “I could only get a hearing test within two months,” Hainer muses. “We got really frustrated and not-in-control.”
The family was able to eventually connect with a doctor who was a “project manager of sorts,” Hainer says, and could get Mitchell an MRI appointment, albeit in Ottawa, within four weeks — and even then, it didn’t necessarily reveal anything.
By this time,  Mitchell was 18 months old and already getting therapy; he was also showing more  symptoms, so Hainer could discuss them better.
“I became an Internet doctor,” she says of the time she spent online trying to determine was was affecting her son. “I couldn’t imagine being a parent of a special needs child 20 years ago (before the popularization of the Internet).”
Even though it took some time to find an exact diagnosis, their doctor did tell them that “Mitchell was ‘globally delayed’... I didn’t know what that meant and a lot of parents (choose) to just live with that diagnosis.”
With tests continuing, the Hainers decided to move to St. Marys so Lynn could stay at home full-time to tend to Mitchell and daughter Johanna, then six (Rick commutes to Mississauga weekly as an insurance broker, and works from home for his software company). The family’s Rogers Avenue bungalow was painstakingly chosen to ensure it would be as accessible as possible for Mitchell.
The move also lead to new physician for Mitchell, which lead to a small break-through. Their genetics doctor in London suggested that Mitchell could have Angelman’s Syndrome, a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, and frequent laughter or smiling.
“We were darn sure this was it,” says Hainer, but she notes that they still had to prove it via testing, which took longer than usual because Mitchell’s results had to be sent to the United States for analysis.
Hainer says she was hopeful of an Angelman’s diagnosis because there was a strong support system in place for those who have had loved ones receive the diagnosis — combating the sense of isolation that those with rare diseases can feel.
But it was not to be. While attending a conference in Florida about Angelman’s, Lynn and Rick met a doctor who believed Mitchell “wasn’t typical” of the disease, and referred the family to a specialist from the United Kingdom.
“She said to try Pitt-Hopkins, and I was like ‘who?’” Hainer says that Mitchell’s geneticist had suggested Pitt-Hopkins earlier, “but we went down the Angelman’s route instead.”
A new round of testing began in September; they got the results in December that showed the gene deletion that leads to Pitt-Hopkins. Lynn and Rick were also tested — and the fact that neither had the deletion proved the diagnosis.
“It didn’t feel like I thought it would,” Hainer says of finally learning of Mitchell’s diagnosis. “It’s important, but it’s not... it doesn’t change our lives.” She was also able to find an online community for Pitt-Hopkins families. “I now have a passport, I’m not just an onlooker anymore,” she says.
Having a sense of community is important to Hainer. Mitchell attends Junior Kindergarten at Central School with the help of an educational assistant — after attending Anne Hathaway in Stratford for a few months. “I didn’t want for him to go out of the community,” she says.
The school has been accommodating to Mitchell’s needs, Hainer says, by putting photos on the walls so Mitchell knows where he’s going for example.
The family hopes that their son can remain within the general school system for as long as possible; while he doesn’t have a lot of language, he does have some words and comprehension, Hainer says, and is always learning more. Mitchell also walks on his own as much as possible, although he has a wheelchair since those with Pitt-Hopkins tend to tire easily.
“He’s interested in everybody,” Hainer says of her son, joking that he has no concept of personal space.  “He always has a bright smile and laugh for everyone,” says Hainer. “The best way to recognize Mitchell when you see him is to say ‘Hi’ — he loves to say ‘Hi’ back!
Mitchell’s diagnosis has also lead to Lynn becoming actively involved in the fundraising for Little Falls Public School, notably a fully accessible playground which, she says, will be “so awesome” when it opens.
“I feel I need to give a bit more so it all blends in in the end,” she says. “It will add value to the community” when it is complete.
“We believe in full inclusion — to try to find a way to meet Mitchell’s skills sets and needs in his community,” she explains — and as a result, Hainer is also helping children of all abilities be part of the new school community.