Health
‘Itch like crazy:’ Edmonton boy battles ultra-rare disease – Red Deer Advocate
EDMONTON — Armando Perez was only three months old when he got itchy.
His mom, Alexandra Perez, says it wasn’t normal scratching that could be fixed with a cute pair of baby mittens. It was so bad that there were blood stains on his bedsheets and scabs on his little arms and legs.
At first, she thought Armando might have an allergy.
“I tried different laundry detergents and different body washes, but he was still itchy,” recalls Perez, as the now 2 1/2-year old and his big brother and little sister play with their grandpa in the downstairs of their Edmonton home.
“Then he turned yellow. I was like, ‘Well, that’s not normal.’”
She says she took the boy to see a doctor, blood tests were ordered and they came back ”totally out of whack.” The doctor sent Armando to a specialist and he was admitted for a week to the city’s children’s hospital for more testing.
Perez and her husband, Walter, soon found out their son has progressive familial intraheptic cholestasis — an ultra-rare genetic liver disease that affects one in every 50,000 to 100,000 children born around the world.
Dr. Cara Mack, a pediatrician at Children’s Hospital Colorado, says there are 40 to 80 cases of the disease diagnosed each year in the United States. And there are six different types.
Armando has Type 2, which is caused by a gene mutation that decreases bile flow.
Mack, who hasn’t treated Armando, says 100 per cent of Type 2 patients are symptomatic.
“Because of the fact that bile acids are stuck in the liver … that directly damages the liver,” says Mack, who notes it leads to scarring and eventually cirrhosis.
Mack says it also causes growth delays because children aren’t able to break down fats or absorb Vitamins A, D, E and K.
“You get significant deficiencies in those vitamins that can lead to, for example, significant bleeding,” she says. “If you are Vitamin D deficient, you can have thin bones and fractures.
“The last major symptom you get is severe itching because the bile acids are stuck inside the liver. They go backwards into the bloodstream and accumulate in the bloodstream.”
That causes children to “itch like crazy,” she said.
The itching continues day and night, which prevents many children from getting a good night’s sleep. It can even limit their appetite.
“It impacts every aspect of their life.”
Perez says she was shocked to learn that Armando has the rare genetic disease.
Both she and her husband are carriers of the gene that causes it, and there’s a 25 per cent chance of passing it on to a child. Their two other children don’t have the disease.
“Armando is the only one we know of in Alberta,” she says. “We only know of five other kids in Canada, so six in total that we know.”
Perez says Armando was put on a special formula with a fat he could absorb and he took vitamins and several different medications.
“He did improve so he wasn’t jaundiced anymore.”
But, she says, her happy little boy is still scratching.
“The itch that comes from it is so intense and extreme,” explains Perez. “It’s constantly all the time, internal, so it can’t be taken away. He’s just always, always itchy.”
Armando is to start a clinical trial soon that could address the itching.
“It doesn’t do anything for the progression of the disease, but it will help with his symptom of being itchy, which is his main problem,” says his mom.
In the meantime, his parents will continue to watch for signs that he’s getting sicker: losing weight, turning yellow, an inflamed belly.
“It’s hard to watch him when you can’t do anything.”
Perez says it’s even more difficult knowing Armando is likely to need a liver transplant before he turns 10.
“There is no cure.”
Health
Whooping cough cases up slightly in N.L., as officials warn about risks to infants – CBC.ca
Newfoundland and Labrador’s top doctor is warning people to stay up to date on whooping cough vaccinations after a small increase in cases this year.
The province usually sees three to four cases of the disease annually. Up to 10 cases have been reported already since January, however, prompting the province’s chief medical officer to raise the issue publicly.
The increase “generally means there’s a little bit more circulating in the community than what’s presenting for care and testing,” Dr. Janice Fitzgerald said Tuesday.
While officials aren’t overly concerned about a future spike in cases, Fitzgerald said, higher infection rates place infants in particular at risk.
Children under the age of one aren’t yet old enough for the whooping cough vaccine and don’t have immunity to the disease, Fitzgerald said. Infections in small children can be more severe and lead to pneumonia, neurological issues and hospitalization.
Fitzgerald said parents, grandparents and caregivers should check to ensure their vaccinations are up to date.
Whooping cough, also known as pertussis, causes a persistent nagging cough that’s sometimes severe enough to cause vomiting. Vaccines for the disease are offered in early childhood, during high school and in adulthood. Booster shots should be given 10 years after the high school dose, Fitzgerald said.
“Immunity can wane over time,” she said. “Pertussis does circulate on a regular basis in our community.”
The small increase in cases isn’t yet ringing alarm bells for undervaccination within the general population, she added, noting the province still has a vaccination rate over 90 per cent.
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Health
Supervised consumption sites urgently needed, says study – Sudbury.com
A study in the Canadian Medical Association Journal (CMAJ) said the opioid drug crisis has reached such a critical level that a public safety response is urgently required and that includes the need for expanded supervised consumption sites.
The report was published by the medical journal Monday and was authored by Shaleesa Ledlie, David N. Juurlink, Mina Tadrous, Muhammad Mamdani, J. Michael Paterson and Tara Gomes; physicians and scientists associated with the University of Toronto, Sunnybrook Research Institute and the Li Ka Shing Knowledge Institute at St. Michael’s Hospital.
“The drug toxicity crisis continues to accelerate across Canada, with rapid increases in opioid-related harms following the onset of the COVID-19 pandemic,” the authors wrote. “We sought to describe trends in the burden of opioid-related deaths across Canada throughout the pandemic, comparing these trends by province or territory, age and sex.”
The study determined that across Canada, the burden of premature opioid-related deaths doubled between 2019 and 2021, representing more than one-quarter of deaths among younger adults. The disproportionate loss of life in this demographic group highlights the critical need for targeted prevention efforts, said the study.
The researchers found that the death rate increased significantly as fentanyl was introduced to the mix of street drugs that individuals were using, in some cases, unknowingly.
The authors said this demonstrates the need for consumption sites, not only as overwatch as people with addictions consume their drugs, but also to make an effort to identify the substances and inform those people beforehand.
“The increased detection of fentanyl in opioid-related deaths in Canada highlights the need for expansion of harm-reduction programs, including improved access to drug-checking services, supervised consumption sites, and treatment for substance use disorders,” the authors wrote.
The study said a more intense public safety response is needed.
“Given the rapidly evolving nature of the drug toxicity crisis, a public safety response is urgently required and may include continued funding of safer opioid supply programs that were expanded beginning in March 2020, improved flexibility in take-home doses of opioid agonist treatment, and enhanced training for health care workers, harm reduction workers, and people who use drugs on appropriate responses to opioid toxicities involving polysubstance use.
In conclusion, the authors wrote that during the height of the COVID pandemic in 2020 and 2021, the burden of premature death from accidental opioid toxicities in Canada dramatically increased, especially in Alberta, Saskatchewan, and Manitoba.
“In 2021, more than 70 per cent of opioid-related deaths occurred among males and about 30 per cent occurred among people aged 30–39 years, representing one in every four deaths in this age group. The disproportionate rates of opioid-related deaths observed in these demographic groups highlight the critical need for the expansion of targeted harm reduction–based policies and programs across Canada,” said the study.
The full text of the report can be found online here.
Health
Business Plan Approved for Cancer Centre at NRGH – My Cowichan Valley Now
A business plan for a new BC Cancer Centre at Nanaimo Regional General Hospital has been approved by the province.
Health Minister Adrian Dix says the state-of-the-art cancer facility will benefit patients in Nanaimo and the surrounding region through the latest medical technology.
The facility will have 12 exam rooms, four consultation rooms and space for medical physicists and radiation therapists, medical imaging and radiation treatment of cancer patients.
The procurement process is underway, and construction is expected to begin in 2025 and be complete in 2028.
Upgrades to NRGH have also been approved, such as a new single-storey addition to the ambulatory care building and expanded pharmacy.
Dix says Nanaimo’s population is growing rapidly and aging, and stronger health services in the region, so people get the health care they need closer to home.
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