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Living With It

Doctors are Finally Figuring Out How to Treat My Brother's Rare Disease

At the first-ever clinic that treats adults with 22q, we'd received more information in a two-hour period than we had in the previous 18 years.

Brianne Spiker

Brianne Spiker

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My little brother, Cole, was impatient to leave the clinic. He wandered in and out of the office repeating "let's go" to my parents. Cole has autism, a common feature of his genetic condition, and his patience for things that don't interest him is low. It was our first visit to the clinic in fall of 2015, when Cole was 19, and Pam McFarlane—a social worker at the clinic—had just told my family that one in 100 people with schizophrenia also have the genetic condition 22q11.2 Deletion Syndrome (also known as DiGeorge Syndrome, or more simply as 22q).

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My brother looks like any ordinary 21-year-old but mentally operates at a much younger age and has a long list of health problems—heart disease, for one. My family and I have spent the past 21 years trying to understand the complexities of 22q. It’s taken this long because many medical professionals to this day remain unaware of its existence since its symptoms vary widely. They only found out Cole has 22q after he was first diagnosed with a rare heart disease called truncus arteriosus—a condition where the person has one large artery instead of two separate ones—as a baby. It was this that prompted genetic testing. Still, about one in 2,000 to one in 4,000 people are born with 22q, making it more common than more well-known, incurable genetic disorders such as Huntington's disease.

While only a tiny portion of chromosome 22 is missing, the disorder can affect every system in the human body. It is the second most common cause of developmental delay and congenital heart disease after Down’s syndrome. Even though the deletion is the same in every person with the condition, the symptoms vary with each patient and no case is identical. Even studies with identical twins having 22q have shown varying individual symptoms. About one in ten people who have 22q also have a parent who has the condition.

The privately funded Dalglish Family 22q Clinic—where my family took Cole for treatment—is equipped with a team of healthcare providers, including cardiologists, psychiatrists, endocrinologists, neurologists, social workers and dieticians. With approximately 300 patients and counting, the staff aims to help patients and their families deal with the challenges the condition presents and conduct further research into how 22q will affect people as they get older.

The clinic, which opened its doors in 2012, is the first one in the world that is exclusively for adults with 22q. Everyone in Ontario who has a learning, developmental or mental disability is eligible for the genetic testing under OHIP (Ontario’s health insurance plan), but not every doctor knows that. What has surprised my mother the most about the clinic was how much our family learned in our very first visit there. They received more information in a two-hour period than they had in the previous 18 years, she says.


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Anne Bassett, director of the Dalglish Family 22q Clinic, has been treating 22q patients since the early to mid-1990s—she sees every patient that comes through there. "This [condition] is the poster child for complex conditions because every system in the whole body can be affected. The brain, the heart, the skin, the kidneys, the guts," Bassett says, adding that there’s no definite answer as to what causes the deletion. However, the clinic’s staff do know that the deletion happens before conception. This part of the human genome is more prone to have the piece go missing than other parts of the genome, and there’s a 50 percent chance of a person passing it on if they have the deletion. It’s a staggering enough statistic to warrant some deeper research into this condition.

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The clinic is looking to get 22q testing into newborn screening to know about it right from the start in order to begin preventative care even before the baby is born. In recent years, researchers have found a link between 22q and early onset Parkinson's disease. The research group at the clinic discovered the association when they found that a relatively high proportion of their patients had early onset Parkinson's. Another group in the United Kingdom, headed by a neurologist, studied people with Parkinson's, looked for 22q and found the same thing as the Dalglish group—that half of one percent of early onset Parkinson's patients also have 22q. In fact, the group discovered a new molecular form of Parkinson's disease. As adults with 22q age, the risk of developing more health issues increases and new research findings, such as the association with Parkinson's, give the clinic and its patients something to look out for.

In July 2005, Cole had his second open heart surgery. This time, he was nine years old, and the struggles of dealing with a child with autism and heart disease became glaringly apparent. Of course, at that age, he didn’t fully comprehend what was going on and had trouble communicating about his pain and his needs in general. Mere hours after having surgery, Cole was lying in the ICU at Sick Kids and had various tubes and wires attached to his body. He was still knocked out from the surgery—or so everyone thought. When my parents and the nurse assigned to him had their backs turned, my brother sat up all of a sudden and started removing tubes, announcing to everyone, "I want to go swimming in the pool."

At that point, the nurse jumped into action and grabbed at his hands to keep him from removing anything more. After that, he got drowsy and fell asleep again a few minutes later. This is Cole in a nutshell. Most kids don't sit up hours after open heart surgery, have the nerve to pull out tubes and declare to everyone that they want to go swimming. My brother has always been a tough, stubborn, and animated kid with no filter. That day at the hospital was no different.

For Lisa Palmer, another social worker at Dalglish, reviewing all aspects of a patient's life, their personalities, and their family life is integral to the treatment process. She also helps some patients prepare for college, writing letters to help get disability funding from the provincial government, supportive counselling, referrals and organizing support groups.

Palmer tells me what it's like for her to talk to someone who has 22q—sometimes, things have to be repeated over and over for them. It’s one of the rare instances where I feel like someone gets what it's like growing up with a sibling with as many challenges as my brother. I've spent most of my life trying to get why my brother is the way he is and for the first time, I finally understand.

One challenge Palmer has when organizing support-group activities is that some patients have trouble accepting they even have the syndrome. "A lot of our patients don't want to be associated with 22q or disabilities," she says. "That's another challenge that I have—trying to find social activities for our patients. They don't want to be grouped in with people with developmental disabilities because they want to be quote-unquote "normal." Many 22q patients have a mild to borderline intellectual disability, which can make self-acknowledgement difficult. "It's an invisible disability."

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