Diary of Unknown Symptoms

Mystery of the Internal Vibration

Entry for April 27, 2006 (Brooke Di Bernardo)


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My mother was telling me about a girl from Orangeville who had these very weird symptoms and it was declared a mysterious illness. She bounced around from doctor to doctor for four years before they finally figured it out. It’s an extremely sad story…

Here is the article from the Toronto Star:

`We all let her die’
Brooke Di Bernardo’s heart simply wore out. Her parents wonder why, in four years of shuttling her to doctors, no one saw it coming

Apr. 22, 2006. 05:23 AM
JESSICA LEEDER
STAFF REPORTER

For the final four years of her life, 14-year-old Brooke Di Bernardo suffered from a mysterious illness: a constant pain burned in her chest; tying her shoelaces left her winded and dizzy; she had blacked out in school stairwells, in doctors’ offices, and alone in the horse-training arena where she couldn’t muster the strength to pull her face up from the dirt.

The Caledon teen was shuttled to more than a dozen physicians, from cardiac specialists to psychiatrists and emergency room doctors, but no diagnosis — not motion sickness, not asthma, not stress or anxiety — seemed to fit. Eventually, both her parents and some of her doctors began to wonder if her illness was real.

One pediatrician, Brooke’s mother Lea recalls, was adamant that the girl was just panning for attention.

“(The doctor) said, `I know all about children like you. You are going to have to sit there on the floor if you collapse and you are going to tell your brain … Brain, I’m not going to do this anymore,'” Lea said.

Brooke died three weeks ago, on the first day of April. The day before, when she was so weak she couldn’t sip water without choking, she was airlifted from a hospital in Orangeville to Toronto’s Hospital for Sick Children. Doctors there determined she was in the advanced stage of a hard-to-detect heart/lung disease called pulmonary hypertension, a rare and fatal disorder that causes the heart to fail, starving the body and lungs of blood. Brooke’s heart gave out a day after she was diagnosed.

Concerns over the quality of Brooke’s medical care have prompted the Ontario coroner’s office to launch an investigation. A committee of eight independent medical experts will review every test the teen was ever given to figure out how her illness was missed, with the aim of discerning what, if anything, went wrong. Their final report could include recommendations for systemic changes.

“The question is how did the child see so many physicians over a period of time and yet not be diagnosed,” said Dr. Jim Cairns, the province’s deputy chief coroner. “That’s a very valid question on the part of the family. It’s one we want to know the answer to.”

Brooke’s parents, Vince and Lea Di Bernardo, and her sister, Brittney, 16, understand the rarity of the disorder. But they insist that had she seen doctors who steered her on a different treatment path — and spent less time on mental health queries — she would have suffered less.

“I would have hugged her every day, and laid in her bed with her,” Lea said. “Nobody would have been telling her, `It’s in your head.’ Nobody took her seriously because she was a young child. We’re sick now, thinking about it. What if we got her to Sick Kids sooner? They might have saved her. From the time she was 10 to the time she died, the whole system failed her. We all let her die.”

When Brooke was 10, she began complaining of dizziness when riding her horse. The former competitive swimmer also had trouble catching her breath, which was strange. She’d never had any trouble before.

A doctor suggested Brooke might have motion sickness. So the Di Bernardos bought special wristbands in hopes the symptoms would go away. They did not. “She had the exact symptoms from day one to the day she died,” Lea said.

As the year wore on, Brooke began making medical rounds. Sitting in different doctors’ offices, she was tested for allergies, asthma, a hormonal imbalance, heart trouble. All the tests came back clean, including an echocardiogram done to examine her heart rhythms in 2003.

Partly because of Brooke’s love of horses, Lea and Vince, a retired Internet entrepreneur, traded their Mississauga estate for a sprawling Caledon farm, where they built a horse-training arena and began to care for the animals full-time. But when they moved, a year and a half ago, Brooke was too sick to ride.

As the months passed, Brooke’s “episodes” were triggered anytime she couldn’t catch her breath. First, her face would go red, then turn whitish in the cheeks. Her eyes took on a vacant look and she lost her vision right before a collapse.

The Toronto Star contacted eight doctors who counted Brooke as their patient. Four refused comment, citing patient confidentiality and the coroner’s investigation.

Dr. Tilman Humpl, a pediatric critical care specialist and director of the pulmonary hypertension clinic at Sick Kids, said the disease Brooke suffered from is extremely difficult to detect, largely because there is no way to screen for it, no silver-bullet test. Fatal in its final stage, the condition affects the small blood vessels supplying the lungs. They tighten and scar over time and — as if the opening in the pipes that feed the lungs have shrunk — make it harder for blood to get to the lungs. To compensate, the right side of the heart goes into overdrive and pumps harder. As that side of the muscle grows, it inflates so much it squeezes the left size of the heart.

“It’s only able to do this for a certain amount of time. At some point, it fails. The whole system falls apart,” Humpl said.

The symptoms leading to that point — dizziness, shortness of breath, chest pain — could take years to develop, and mimic other disorders, like asthma, Humpl said. For those reasons, patients with pulmonary hypertension are often misdiagnosed.

In Brooke’s case, asthma was ruled out. A psychiatrist Brooke was then referred to suggested her episodes might be caused by anxiety; the Di Bernardos say they were told that by picking her up from school when she had an episode, or by taking her to the hospital, they were encouraging the behaviour.

Although skeptical, Vince stopped leaving out the ATV he had purchased for Brooke when she got sick so she could ride up the long farm driveway when she got off the school bus. The walk takes a healthy person about five minutes; it caused Brooke to collapse.

When school administrators called to say Brooke had an episode in the hallway, he would plead with them not to call an ambulance, citing a psychiatrist’s advice. He chided her when she didn’t have the energy to get out of bed and talk with friends on the phone.

“We told her, `You’re going to have no friends,'” Vince said.

But he felt funny about ignoring Brooke’s symptoms — she was never the type to act out for attention.

On the last night of Christmas break, Brooke slipped a note to Lea begging to take a leave from school until she recovered: “I’ve been trying to make some decisions on life involving my illness, and I’ve realized how much happier I am when I’m at home with just you and the horses,” she wrote. “At school I feel nervous and stressed as if people are judging me and I hear about everybody’s weekend with their friends and how I know I can’t do those same things … I feel so alone, but when I’m with you I feel as if I’m important enough.”

The Di Bernardos insisted Brooke continue at school. In February, her symptoms worsened. She was usually too weak to last a day at school.

Vince and Lea suspected Brooke actually had far more episodes than she let on. “She was so tired in her mind, and nobody was listening,” Lea said.

A few months before Brooke’s death, the Di Bernardos said they were making appointments with her family doctor every couple of weeks. Eventually, they had trouble getting appointments. “As
if we were hypochondriacs,” Vince said. “I started panicking. I was calling (the doctor) every day.”

The family’s Orangeville-based physician, Dr. David Josephson, told the Star in a written statement he could not discuss the case. “It is impossible to discuss the medical issues in this case publicly,” he wrote.

Vince said he was worried that doctors weren’t doing enough so he sought out an American clinic where he could take Brooke for help. “Money wasn’t an issue,” he said. But he decided to wait, and exhaust local options first. The Di Bernardos were hoping to get Brooke checked out by specialists at Sick Kids — they’d been there before, but on referral to see a psychiatrist. To see any other specialists they were told they’d need a referral. Lea said she asked Josephson, but was not able to get one.

One night, about six weeks before she died, alone for a few minutes in the training arena, Brooke collapsed in the dirt.

“I’m walking past the (barn) opening and I see Brooke at one end, her legs all twisted, her face was right in the sand,” Lea said. “I couldn’t get her up and I couldn’t get her in the wheelbarrow.”

Vince and Lea cleaned her up and put her to bed, rather than making the trek to the hospital.

“We’ve been conditioned not to go. We have gone so many times to the hospital and they just send us home. I wish I knew I could have just taken her to the emergency room at Sick Kids,” she said. “We wouldn’t have wasted all this time.”

The last time the Di Bernardos were sent home was after an early-morning visit to Headwaters Health Care Centre in Orangeville in late March. Brooke was vomiting, had diarrhea and said her whole body was in pain. “Just to touch her chest was horrifying,” Lea said. In the emergency room, Lea said she tried to explain Brooke’s complicated medical history. After some tests, Brooke was told she might have the flu, Lea said. Brooke was dehydrated, and they were told to pick up some Gatorade on the way home.

“The symptoms she presented our hospital certainly would not prompt one to think of pulmonary hypertension as the most likely thing,” Dr. Ronald Murphy, the hospital’s chief of staff, told the Star yesterday. “Being told to go home and drink some Gatorade is not what happened. A little more happened than that.” He declined to elaborate.

The Di Bernardos say they left the hospital frustrated.

“(Brooke) sat and rocked on the floor all night vomiting,” Lea said. At 6 a.m. the next day, Brooke asked to go back to Headwaters. They saw a different doctor, and chest X-rays showed swelling in her heart, lungs and liver. Brooke was hooked up to an oxygen machine. Lea said she begged the doctors to send Brooke to the Hospital for Sick Children. In the hallway outside Brooke’s room, chatter began about ordering a helicopter.

The flight to Sick Kids was 20 minutes, and Brooke and Lea landed just before 3 p.m. Emergency room doctors began running a plethora of tests including an echocardiogram, the same test Brooke took in 2003, when she was given a clean bill. This time, it showed she had advanced pulmonary hypertension, known as PH.

Dr. David Langleben, a Montreal-based PH specialist, said there are only about 10 to 15 new cases of the rarest, most deadly form of the disease in Ontario per year. “For a general practitioner to pick this up would be very lucky,” he said.

Although research on the disease is advancing, Sick Kids’ Humpl said there is no cure, although some treatments (such as lung transplants) can extend patients’ life span for a few years. The likelihood of a treatment working is higher the earlier the disease is caught. In other cases, especially where doctors can’t pinpoint a cause, treatments do not work at all.

“Always in retrospect, you say if we’d picked it up earlier, we could have prescribed this wonderful medication,” said Humpl. “That isn’t how it works.”

Humpl said PH is “not a clear-cut disease. This is the problem. You have to have this click in your mind. You have to think, this may be PH,” Humpl said.

For one of Humpl’s colleagues at Sick Kids, that “click” came not long after Brooke arrived. But by then, the left side of her heart was barely working; the only real treatment possibility was an immediate lung transplant. To do it, doctors would have had to catch the disease much earlier, said Cairns, the coroner. Although Sick Kids’ doctors found the problem immediately, it was too late.

At Brooke’s bedside, Lea watched as her daughter pulled off her oxygen mask.

“She starts blowing her nose, frantically blowing her nose. She couldn’t breathe. She was flailing and grabbing her throat. They were holding her down, they held her as she was gasping for air, and they were grabbing us and dragging us out,” she said. “Then they came to tell us they couldn’t save her.”

Brooke died of cardiac arrest.

When it was over, the Di Bernardos clustered around her body. A nurse washed her hair and cut off a blond ponytail-length lock for them to keep.

“We got to hold our daughter for two hours after she died in the trauma room,” Lea said. “That’s my good memory.”

In the weeks since Brooke’s death, the Di Bernardo farm has become burdened with signs of teenage death. The kitchen is filled with sympathy cards, dried-out flower arrangements, a handful of colourful “bravery beads” given to Brooke at Sick Kids, the lock of her hair, and a clay imprint of her hand.

With pictures of Brooke everywhere, the Di Bernardos have been sifting madly through heaps of her medical files and torturing themselves with “what ifs.” Their ultimate goal has become to make sure — somehow — that what happened to Brooke never happens to any child ever again.

“My daughter’s death can’t be for nothing,” Vince said. He and Lea hope the coroner’s investigation will lead to an inquest.

“It’s hard enough to lose a child, but to know they’ve suffered,” Lea said. “I can’t sleep at night. I think of all the times she suffered and we didn’t know. We’re crippled now for the rest of our lives.”

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April 27, 2006 - Posted by | Health | , ,

2 Comments »

  1. I have very similar symptoms, doctors do not found anything, sometime I vomit too.

    They sent me away, or just send me home from hospital when I went to emergency. I am not going anywhere anymore!
    The doctors are angry because I do not let them experimenting on me, since I read this article !
    I read this article first time in Apr. 27 2006, I am very glad I found it again.
    I am looking for the doctor in that hospital, who figure it out her problem exactly before she died ! The original article had his name too.
    My condition is getting worse. Not only is my heart and lung in trouble, but liver and kidney are not working well either. I must meet him! He knows much more about this very rear sickness!

    Thanks for your help to find the doctor of hers to me!

    Yours truly

    Eniko Szotyori
    Tel: 416 – 227 – 9384

    Comment by Enikoe Szotyori | December 15, 2010 | Reply


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