Problem with diagnoses is that symptoms vary for the more than 140 forms of the disease
May 22, 2008 12:32 PM
The boy in the bubble was popularized in the 1976 TV movie The Boy in the Plastic Bubble starring John Travolta and recently in shows such as The Family Guy and Seinfeld.But what you may not know is that these “bubble children” actually have a form of PID or primary immunodeficiency disease, a disease that for many can mean certain death if left undiagnosed.
According to Richard Thompson, executive director of the Canadian Immunodeficiency Society, there are 140 different forms of PID, each ranging in levels of severity.
“PID is a defect in the immune system, it’s something you’re born with. It can affect anyone in any culture and doesn’t have to be a previous family history,” he said.
Most forms of PID can be maintained with a proper diagnosis and medication, except for the worst form, severe combined immunodeficiency (SCID).
SCID, more commonly known as Bubble Boy Disease, means a child is born without an immune system. There is an 85 per cent survival rate but children with this disease must have a bone marrow transplant.
Sick Children’s Hospital in downtown Toronto houses the PID clinic, the leading centre of PID treatment and bone marrow transplants in Canada.
It’s estimated there are 13,000 people affected by PID in Canada, and Thompson said 50 per cent of those with SCID are not diagnosed, or misdiagnosed, due to doctors not recognizing the problem.
“It has a lot to do with the symptoms, they vary from individual and it’s also because of the different forms,” he said. “Out of 140 different disorders, the symptoms vary and general practitioners are often not looking for PID.”
For example, Thompson said it’s common for babies and young children to get ear or sinus infections so the physician will treat the infection and not look for anything further, let alone something immune-system related.
“So part of our main effort is to educate physicians on the warning signs and on primary immunodeficiency,” he said.
Lori Peters and her husband Jason know first-hand the heartache of PID being misdiagnosed.
Their second child, Brooklyn, died in 2002 at five months old after continuously being in and out of hospitals.
Peters said Brooklyn was born a healthy baby girl on Oct. 29, 2001. At three months she got a clear runny nose and a cough, but doctors said it was nothing to worry about.
“But the cough kept continuing. It didn’t seem to be bothering her but it was weird to me why she still had it,” Peters said.
After another thorough examination, the doctor prescribed Dimetapp, which made Brooklyn cranky so Peters took her off of it. The cough persisted.
Brooklyn’s sickness came to a head on a trip to Florida that was spent almost entirely in hospital.
Besides the cough, she soon had a multitude of symptoms including diarrhea, rapid breathing and vomiting. After doing every imaginable test, doctors still couldn’t figure out what was wrong with the little girl.
“Even through all this she was the happiest little thing, she was such a sweetheart, and that was what was so strange, how happy she was,” Peters said.
By this point not only were they frustrated and exhausted, but they also had to return home. Accompanied by a nurse, they immediately went to their local hospital.
“The doctor checked her out, didn’t really do much and sent us home, and about every three to four days after that I went to my family doctor and my concern at this point was that she wasn’t eating,” Peters said.
Four days later the doctor saw a drastic change in Brooklyn, and after several more visits to the doctor, she was finally admitted to hospital with a violent cough and diagnosed with double pneumonia.
“They admitted her, put her on antibiotics and an IV and told us we should see an improvement within 48 hours,” she said.
Getting worse, Brooklyn was finally rushed to McMaster Hospital and put on a ventilator. Brooklyn died a few days later on April 9, 2002.
The reason was a mystery, according to doctors.
After her death, autopsy reports showed she had SCID, which was devastating news.
However, if there was a blessing in it all, Peters said when her son Ethan was born in 2005 he was tested and treated immediately once shown to also have SCID.
At three days old, he was admitted to Sick Kids Hospital in the bone marrow unit to await a transplant. Five months later, he received a transplant and at eight months old was discharged. Today he’s healthy, 100 per cent cured and not on any medication.
Ethan’s case is testimony to the fact that if diagnosed and treated properly, SCID does not have to result in death.
Peters said it’s a tragedy that Brooklyn wasn’t properly diagnosed.
“Especially when you see our son Ethan now and see how awesome he’s doing and he had the same thing,” she said.
“It was devastating not knowing why she was dying, she never even had a chance to fight, which was really hard for us. If we had gotten to Sick Kids she may have had a chance.”
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