A researcher copes with the fragility of his daughter's life

By Louise Kinross

Pierre Duez is a computer engineer who works in the Prism Lab at the Bloorview Research Institute. He supports students who are developing algorithms for processing signals that are the basis for switches in access devices. After the student creates the algorithm, Pierre does the programming to turn it into a device “that a child can use as their pathway to engage with the world,” he says. For example, the hummer is a switch developed at Holland Bloorview that detects vocal-chord vibrations when a child makes a sound or hums and turns them into computer functions or voice commands.

Pierre has two daughters—Claire, 4, and Ella, 2 (above with wife Martha). At six months, Ella was diagnosed with a rare genetic condition called Pompe disease. It occurs when there’s too much of a certain type of sugar, called glycogen, in the body’s cells. “She doesn’t produce the enzyme that allows muscles to break down glycogen so the cells burst and die, and this leads to muscle degeneration at a faster pace than they’re reproducing,” Pierre says. “She has a more extreme form.”

Ella spent half of her first year in hospital and has had a few surgeries. At home, night nurses monitor her bipap and oxygen and suction her. She also uses a g-j tube and wheelchair. When she’s well Ella comes to Kindercircle daycare at Holland Bloorview. Every other week she spends a full day at SickKids where she receives a synthetic enzyme to fight her condition, which is life-limiting. Pierre spoke about what it was like to have a child diagnosed with a degenerative condition while working at Canada’s largest children’s rehab hospital.

BLOOM: Did you have experience with disability before you came to Holland Bloorview?

Pierre Duez: I came in completely unexposed to the field of disability, and especially pediatric disability. It’s sort of an elephant in the room for a lot of people who work at Holland Bloorview who don’t come from a background where they’re interacting with disability on a regular basis. There’s fear. I was 31 when I came here and we didn’t have kids yet but were planning on it. I was suddenly more aware of the possibility of not having a typically developing child.

But as I began to work here and engaged with employees and some of the great grad students and as disability became more normalized and just an aspect of life to interact with, I began to realize the other side of the coin. You see the support from staff and you see the families coming to visit and that support doesn’t disappear. Then you hear how families are supported by larger communities. What started out as fear became a realization that it’s different, but it’s not a lesser existence. That support is still there and families are not suddenly stranded.

BLOOM: That’s interesting, because many parents who have no exposure to disability feel alone when they receive a diagnosis.

Pierre Duez: I think I was very fortunate to work here because it helped me come to terms with the ramifications of Ella’s condition much faster. I didn’t have to find Holland Bloorview—like many families do—as a far-away place. I didn’t have to travel here physically or conceptually. Because I worked here, my expectation was that we would have this net of support, and I also had some sense of what services I could leverage.

BLOOM: What’s been the biggest challenge?

Pierre Duez: The fact that Ella’s disease is life-limiting. While Ella was in the hospital in the fall she had two respiratory and cardiac arrests. It’s one thing to have this conceptualization that her decline will be slow, and you have time to get used to it. But we have the possibility that it can strike out of the blue, because her respiration is weak at the best of times.

BLOOM: Those experiences must have been incredibly traumatic. How do you deal with that afterwards? Is there anything you do, like meditation, to help you cope?

Pierre Duez: I’m not nearly organized enough for that. For me, you can’t go into denial about the fragility of life, but you also have to look at the moment as well. When Ella’s doing really well and is really happy, I have to tell myself that I’m not worried about her now, which is really good. When she gets sick, I’m much less cavalier now than I was before the cardiac arrests.

It’s realizing that what will come, will come, regardless of our attitude towards it, so our trick is to make the most of the intervening time. I feel that the best I can do, and this applies to when we got the diagnosis and other setbacks, is to accept what’s there. And if not, to take it in stride, at least to recover in stride.

BLOOM: Acceptance is key, but most parents find it so hard not to fight what is there.

Pierre Duez: Denial and bargaining are unavoidable reactions. Having been in this community and having seen children, current and past research participants, who have died, it’s devastating. But now it’s on my radar. Because it’s already on my mind, it’s something I can accept a little more easily.

I feel I have a head start, which means that I don’t have to get so hung up on future loss and can move past that to what is most important in the short term: what will make Ella happy today, what equipment or services does Ella need, and how to make sure that everything is as good as it can be for her.

BLOOM: Are you able to stay in the moment with her?

Pierre Duez: Yes. She makes it very easy to stay in the moment.

BLOOM: Tell us about her.

Pierre Duez: Ella has opinions. She’s non-verbal, because her development is delayed by her physical limitations, but her receptive language is bang-on. She’s a very clever girl who knows how to communicate and get what she needs through gestures, tone of vocalizations and eye contact. She’s very clear. Even if you don’t know her, you will know if she’s happy, displeased or content.

BLOOM: What does she like?

Pierre Duez: People. She’s loves interacting with people. She’s a cuddler. When someone she knows and likes walks into the room, she lights up. She’ll do this big happy dance and reach out her hand and keep it there till the person comes and holds hands with her. She’s big into pretend play. She’ll suction all of her stuffed animals. She’s done music therapy and likes xylophones and cymbals. She loves turning the pages of books. She likes watching Backyardigans on her iPad.

BLOOM: Is Martha at home with Ella?

Pierre Duez: No, Martha and I both work. Ella is at Kindercircle and that has been fantastic, even though it’s not geared toward children with special needs. They have gone so far and above the call of duty, making trips to SickKids to get training on how to suction Ella and how to connect and disconnect her food. I’m on call if they need it, but they’ve learned to be the day-to-day care.

BLOOM: How do you manage both working with all of Ella’s medical visits?

Pierre Duez: We try to line up hospital visits when Ella is at SickKids every other Wednesday, so she sees other specialists that day if she needs to. Her grandmothers are retired and they can spend Wednesday with her at the hospital. Tom Chau has been incredibly supportive in giving me the flexibility I need if there’s a morning visit I need to take Ella to. Martha and I and her nurses overnight have been trained by physiotherapists on how to deliver twice daily 'chest percussion' and 'cough assist.' When Ella is healthy, she’s a good sleeper and doesn’t need a lot of intervention besides suctioning and repositioning.

BLOOM: What impact has Ella’s disease had on your daughter Claire?

Pierre Duez: Claire was 2 1/2 when Ella was born and she just accepted the situation. She had no sense of her ‘normal’ as opposed to everyone else’s ‘normal.’ We’ve always made huge efforts to keep Claire’s life as normal as possible. When Ella is in the hospital, we try to both be home at night and have a family member visit Ella. We put out calls to people, the more visitors the better. Of course we pay in extra guilt the times Ella spends alone at the hospital, and weekends can be very difficult.

BLOOM: Many parents find it hard to ask other people to help out.

Pierre Duez: We are in that camp as well. But our friends and family keep telling us we have to reach out more.

BLOOM: Has anything changed as Claire has gotten older?

Pierre Duez: Ella’s transition from home to hospital and back affects Claire a lot more now. Since last July, Ella has been in the hospital at least once a month and for one two-month period. What will often happen is Ella goes into the hospital during the day, and when we tell Claire that Ella’s back at the hospital, she’s subdued. She usually knows a day or two in advance when Ella will come home and she likes to tell all her teachers and everyone she knows that her sister is coming home.

BLOOM: Have you connected with other families who have children with Pompe disease?

Pierre Duez: We haven’t. Neither of us have really looked at shared stories and experiences as a way of coping. I’m an engineer, so I’m more likely to say ‘let’s find a solution’ rather than ‘let’s share experiences as a form of therapy or catharsis.’

BLOOM: Has anything changed in the way you look at disability or difference since Ella was born?

Pierre Duez: Any of the changes in my views happened in the first five years I was working here. I do empathize a lot more with parents of kids with disabilities and I find myself chocking back tears a bit more when I hear personal stories.

I am blown away by the amount of care Ella is receiving. She gets physiotherapy and occupational therapy through Holland Bloorview, and is seen by seating and the neuromuscular team. Everybody is 100 per cent invested in making sure Ella gets what she needs.

The biggest surprise to us was the cost of all of this equipment. The social workers we’ve been connected with have helped to educate us on third-party funding that’s out there to offset the costs. Even though I worked in pediatric rehab, I was blind to the cost of equipment.