‘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.”
Colorectal cancer is rising among younger adults and scientists are racing to uncover why
(CNN) — Nikki Lawson received the shock of her life at age 35.
A couple of years ago, she noticed that her stomach often felt irritable, and she would get sudden urges to use the restroom, sometimes with blood in her stool. She even went to the hospital one day when her symptoms were severe, she said, and she was told it might be a stomach ulcer before being sent home.
“That was around the time when Chadwick Boseman, the actor, passed away. I remember watching him on the news and having the same symptoms,” Lawson said of the “Black Panther” star who died of colon cancer at age 43 in August 2020.
“But at that time, I was not thinking ‘this is something that I’m going through,’ ” she said.
Instead, Lawson thought changing her diet would help. She stopped eating certain red meats and ate more fruits and vegetables. She began losing a lot of weight, which she thought was the result of her new diet.
“But then I went for a physical,” Lawson said.
Her primary care physician recommended that she see a gastroenterologist immediately because she had low iron levels.
“When I went and I saw my gastro, she said, ‘I’m sorry, I have bad news. We see something. We sent it off to get testing. It looks like it is cancer.’ My whole world just kind of blanked out,” Lawson said. “I was 35, healthy, going about my day, raising my daughter, and to get a diagnosis like this, I was just so shocked.”
Lawson, who was diagnosed with stage III rectal cancer, is among a growing group of colon and rectal cancer patients in the United States who are diagnosed at a young age.
The share of colorectal cancer diagnoses among adults younger than 55 in the US has been rising since the 1990s, and no one knows why.
‘Crying through chemotherapy’
Researchers at Dana-Farber Cancer Institute are calling for more work to be done to understand, prevent and treat colorectal cancer at younger ages.
In a paper published last week in the journal Science, the researchers, Dr. Marios Giannakis and Dr. Kimmie Ng, outlined a way for scientists to accelerate their investigations into the puzzling rise of colorectal cancer among younger ages, calling for more specialized research centers to focus on younger patients with the disease and for diverse populations to be included in studies on early-onset colorectal cancer.
Their hope is that this work will help improve outcomes for young colorectal cancer patients like Lawson.
Among younger adults, ages 20 to 49, colorectal cancer is estimated to become the leading cause of cancer-related deaths in the United States by 2030.
Lawson, now 36 and living in Palm Bay, Florida, with her 5-year-old daughter, is in remission and cancer-free.
The former middle school teacher had several surgeries and received radiation therapy and chemotherapy to treat her cancer. She is now being monitored closely by her doctors.
For other young people with colorectal cancer, “my words of hope would be to just stay strong. Just find that courage within yourself to say, ‘You know what, I’m going to fight this.’ And I just looked within myself,” Lawson said.
“I also have a very supportive family system, so they were definitely there for me. But it was very emotional,” she said of her cancer treatments.
“I remember crying through chemotherapy sessions and the medicine making you so weak, and my daughter was 4, and having to be strong for her,” she said. “My advice to any young person: If you see symptoms or you see something’s not right and you’re losing a lot of weight and not really trying to, go to see a doctor.”
Signs and symptoms of colorectal cancer include changes in bowel habits, rectal bleeding or blood in the stool, cramping or abdominal pain, weakness and fatigue, and weight loss.
A report released this month by the American Cancer Society shows that the proportion of colorectal cancer cases among adults younger than 55 increased from 11% in 1995 to 20% in 2019. Yet the factors driving that rise remain a mystery.
There’s probably more than just one cause, said Lawson’s surgeon, Dr. Steven Lee-Kong, chief of colorectal surgery at Hackensack University Medical Center in New Jersey.
He has noticed an increase in colorectal cancer patients in their 40s and 30s within his own practice. His youngest patient was 21 when she was diagnosed with rectal cancer.
“There is a phenomenon of decreasing overall colorectal cancer rates in the population in general, we think because of the increase in screening for particularly for older adults,” Lee-Kong said. “But that doesn’t really account for the overall increase in the number of patients younger than, say, 50 and 45 that are developing cancer.”
‘There’s something else going on’
Some of the factors known to raise anyone’s risk of colorectal cancer are having a family history of the disease, having a certain genetic mutation, drinking too much alcohol, smoking cigarettes or being obese.
“They were established as risk factors in older cohorts of patients, but they do seem to be also associated with early-onset disease, and those are things like excess body weight, lack of physical activity, high consumption of processed meat and red meat, very high alcohol consumption,” said Rebecca Siegel, a cancer epidemiologist and senior scientific director of surveillance research at the American Cancer Society, who was lead author of this month’s report.
“But the data don’t support these specific factors as solely driving the trend,” she said. “So if you have excess body weight, you are at a higher risk of colorectal cancer in your 40s than someone who is average weight. That is true. But the excess risk is pretty small. So again, that is probably not what’s driving this increase, and it’s another reason to think that there’s something else going on.”
Many people who are being diagnosed at a younger age were not obese, including some high-profile cases, such as Broadway actor Quentin Oliver Lee, who died last year at 34 after being diagnosed with stage IV colon cancer.
“Anecdotally, in conferences that I’ve attended, that is the word on the street: that most of these patients are very healthy. They’re not obese; they’re very active,” Siegel said, which adds to the mystery.
“We know that excess weight increases your risk, and we know that we’ve had a big increase in body weight in this country,” she said. “And that is contributing to more cancer for a lot of cancers and also for colorectal cancer. But does it explain this trend that we’re seeing, this steep increase? No, it doesn’t.”
Yet scientists remain divided when it comes to just how much of a role those known risk factors — especially obesity — play in the rise of colorectal cancer among adults younger than 55.
Scientists debate the role of obesity
Even though the cause of the rise of colorectal cancer in younger adults is “still not very well understood,” Dr. Subhankar Chakraborty argues that dietary and lifestyle factors could be playing larger roles than some would think.
“We know that smoking, alcohol, lack of physical activity, being overweight or obese, increased consumption of red meat — so basically, dietary factors and environmental and lifestyle factors — are likely playing a big role,” said Chakraborty, a gastroenterologist with The Ohio State University Comprehensive Cancer Center.
“There are also some other factors, such as the growing incidence of inflammatory bowel disease, that may also be playing a role, and I think the biggest factors is most likely the diet, the lifestyle and the environmental factors,” he said.
It has been difficult to pinpoint causes of the rise of cases in younger ages because, if someone has a polyp in their colon for example, it can take 10 to 15 years to develop into cancer, he says.
“During that, all the way from a polyp to the cancer stage, the person is exposed to a variety of things in their life. And to really pinpoint what is going on, we would need to follow specific individuals over time to really understand their dietary patterns, medications and weight changes,” Chakraborty said. “So that makes it really hard, because of the time that cancer actually takes to develop.”
Some researchers have been investigating ways in which the rise in colorectal cancer among younger adults may be connected to increases in childhood obesity in the US.
“The rise in young-onset colorectal cancer correlates with a doubling of the prevalence of childhood obesity over the last 30 years, now affecting 20% of those under age 20,” Dr. William Karnes, a gastroenterologist and director of high-risk colorectal cancer services at the UCI Health Digestive Health Institute in California, said in an email.
“However, other factors may exist,” he said, adding that he has noticed “an increasing frequency of being shocked” by discoveries of colorectal cancer in his younger patients.
There could be correlations between obesity in younger adults, the foods they eat and the increase in colorectal cancers for the young adult population, said Dr. Shane Dormady, a medical oncologist from El Camino Health in California who treats colorectal cancer patients.
“I think younger people are on average consuming less healthy food — fast food, processed snacks, processed sugars — and I think that those foods also contain higher concentrations of carcinogens and mutagens, in addition to the fact that they are very fattening,” Dormady said.
“It’s well-publicized that child, adolescent, young adult obesity is rampant, if not epidemic, in our country,” he said. “And whenever a person is at an unhealthy weight, especially at a young age, which is when the cells are most susceptible to DNA damage, it really starts the ball rolling in the wrong direction.”
Yet at the Center for Young Onset Colorectal and Gastrointestinal Cancers at Memorial Sloan Kettering Cancer Center, researchers and physicians are not seeing a definite correlation between the rise in colorectal cancer among their younger adult patients and a rise in obesity, according to Dr. Robin Mendelsohn, gastroenterologist and co-director of the center, where scientists and doctors continue to work around the clock to solve this mystery.
“When we looked at our patients, the majority were more likely to be overweight and obese, but when we compare them to a national cohort without cancer, they’re actually less likely to be overweight and obese,” she said. “And anecdotally, a lot of the patients that we see are young and fit and don’t really fit the obesity profile.”
That leaves many oncologists scratching their heads.
Growing doubt that genetics is involved
Some scientists are also exploring whether genetic mutations that can raise someone’s risk for colorectal cancer have played a role in the rise of cases among younger adults — but the majority of these patients do not have them.
Karnes, of UCI Health, said “it is unlikely” that there has been an increase in the genetic mutations that raise the risk of colorectal cancer, “although, as expected, the percentage of colorectal cancers caused by such mutations, e.g., Lynch syndrome, is more common in people with young-onset colorectal cancer.”
Lynch syndrome is the most common cause of hereditary colorectal cancer, causing about 4,200 cases in the US per year. People with Lynch syndrome are more likely to get cancers at a younger age, before 50.
“In my practice and in the medical community, the oncologic community, I don’t think there’s any proof that genetic syndromes and gene mutations that patients are born with are becoming more frequent,” El Camino Health’s Dormady said. “I don’t think the inherent frequency of those mutations is going up.”
The tumors of younger colorectal cancer patients are very similar to those of older ones, said Mendelsohn at Memorial Sloan Kettering Cancer Center.
“So then, the question is, if they’re biologically the same, why are we seeing this increasingly in younger people?” she said. “About 20% may have a genetic mutation, so the majority of patients do not have a family history or genetic predisposition.”
Therefore, Mendelsohn added, “it’s likely some kind of exposure, whether it be diet, medication, changing microbiome,” that is driving the rise in colorectal cancers in younger adults.
That rise “has been something that’s been on our radar, and it has been increasing since the 1990s,” Mendelsohn said. “And even though it is increasing, the numbers are still small. So it’s still a small population.”
Better testing and diagnosing
Dormady, at El Camino Health, said he now sees more colorectal cancer patients in their early to mid-50s than he did 20 years ago, and he wonders whether it might be a result of colorectal cancer screening being easier to access and better at detecting cancers.
“The first thing to consider is that some of our diagnostic modalities are becoming better,” he said, especially because there are now many at-home colorectal cancer testing kits. Also, in 2021, the US Preventive Services Task Force lowered the recommended age to start screening for colon and rectal cancers from 50 to 45.
“I think you have a subset of patients who are being screened earlier with colonoscopies; you have advancing technology where we can potentially detect tumor cell DNA in the stool sample, which is leading to earlier diagnosis. And sometimes that effect will skew statistics and make it look like the incidence is really on the rise, but deeper analysis shows you that part of that is due to earlier detection and more screening,” he said. “So that could be one facet of the equation.”
Overall, pinpointing what could be driving this surge in colorectal cancer diagnoses among younger ages will not only help scientists better understand cancer as a disease, it will help doctors develop personalized risk assessments for their younger patients, Ohio State University’s Chakraborty said.
“Because most of the people who go on to develop colorectal cancer really have no family history — no known family history of colon cancer — so they would really not be aware of their risk until they begin to develop symptoms,” he said.
“Having a personalized risk assessment tool that will take into account their lifestyle, their environmental factors, genetic factors — I think if we have that, then it would allow us hopefully, in the future, to provide some personalized recommendations on when a person should be screened for colorectal cancer and what should be the modality of screening based on their risk,” he said. “Younger adults tend to develop colon cancer mostly in the left side, whereas, as we get older, colon cancer tends to develop more on the right side. So there’s a little difference in how we could screen younger adults versus older adults.”
This story was first published on CNN.com, “Colorectal cancer is rising among younger adults and scientists are racing to uncover why”
Waterloo regional COVID-19, cold and flu care clinic closing its doors
It might be a sign of change in the pandemic that has gripped the world for three years.
The regional COVID-19 Cold & Flu Care Clinic run by Grand River Hospital is closing its doors.
The clinic has been open for the last six months, first at 66 Pinebush Road in Cambridge and later at 50 Sportsworld Drive in Kitchener, after the hospital announced it would be expanding the services offered by the clinic.
Healthcare workers said it’s a bittersweet day, noting there is still a need for its services in the community.
“At our peak, we were seeing up to 400 patients per week, and it was incredible to see the way this team would perform. Everyone did their part, everybody held their own,” Lisa Anstey, manager of the regional COVID care clinic, said.
She added that it never felt chaotic or busy at the clinic because it was well organized.
“The patients were all very pleased with the care they received,” she said.
The clinic has cared for over 8,000 patients over the last six months.
The hospital said the clinic`s closure comes with the return of warmer weather and anticipated seasonal decline of cold and flu.
“If their symptoms are severe and worsening they should go to a local emergency department… pharmacies are a wonderful resource as well. They can provide Plaxlovid prescriptions or they can support through PCR testing,” said Anstey.
Care will now transition to family physicians, urgent care clinics and community pharmacies.
The hospital says the regional clinic grew out of the COVID-19 assessment clinics which were run by local hospitals starting in 2020. Their goal was to divert patients away from hospitals and get the COVID-19, cold and flu care they need.
The clinic’s doors closed at 4 p.m. Friday.
Nurses Marilyn Boehm and Lannie Butler have been working side-by-side since March 2020, the pair taking on the pandemic together.
They have worked at the drive-thru testing clinic, vaccine clinic and at the regional COVID-19, Cold & Flu Care Clinic.
“This is our final journey, we’re sad it’s closing,” the duo said. “We worry about what’s going to happen to our patients out there in our community.”
“That’s the only recourse that some of the sicker folks have is to go to the emergency department and we know about the long waits and the high volumes there.”
The clinic has helped divert patients from the emergency rooms, and they say the closure could place the burden back on hospitals.
The Ontario Pharmacist Association also has concerns.
“There can be a challenge with needing to ramp those efforts up again very rapidly given the challenges everyone is facing with workforce, health human resources,” Jen Belcher, vice-president of member relations with the Ontario Pharmacist Association, said
The association is stressing that the pandemic isn’t over yet, despite mandates being dropped.
“It’s absolutely not from what we’ve seen from the impact of the disease on our population both through new infection and some of those longer-term complications associated with people with long COVID for example,” Belcher said.
As for Boehm and Butler, they say they will return if they get called back to the frontlines to continue fighting COVID-19.
OTHER CLINICS SET TO CLOSE
The Grand River Hospital’s COVID-19 clinic is not the only one closing in southern Ontario.
On Friday, the Huron Perth Healthcare Alliance (HPHA) said it will be closing its COVID-19, cold and flu care clinic.
According to the HPHA, the last day of operation for COVID-19 testing will be March 30.
“The contribution this team has made to the quality of our local health system during the pandemic has been outstanding,” said Andrew Williams, President and CEO of HPHA in a news release. “As we close our CCFCC a huge thank you is extended to our community partners including the Stratford Rotary Complex, the wonderful staff at the Stratford Family Health Team, Emad Salama of PrinceRx Pharmacy for generously paying the parking fees for all the CCFCC patients and, of course, all the staff and physicians that worked tirelessly provide this service.”
THE HPHA said over 54,000 PCR tests and over 2,000 clinical assessments have been completed.
Over in Guelph, the Guelph-Wellington-Dufferin Public Health unit said it will be closing its clinic on March 31.
Huron Perth Healthcare Alliance closes COVID, Cold and Flu Care Clinic
The Huron Perth Healthcare Alliance’s (HPHA) COVID, Cold and Flu Care Clinic (CCFCC) will be closing due to a steady decline in patients.
The last day of operation for COVID-19 testing will be Thursday, March 30. The last day for physician assessment will be Friday, March 31.
“The contribution this team has made to the quality of our local health system during the pandemic has been outstanding,” said President and CEO Andrew Williams. “As we close our CCFCC, a huge thank you is extended to our community partners including the Stratford Rotary Complex, the wonderful staff at the Stratford Family Health Team, Emad Salama of PrinceRx Pharmacy for generously paying the parking fees for all the CCFCC patients and, of course, all the staff and physicians that worked tirelessly to provide this service.”
For patients seeking COVID-19 assessment, testing, or antiviral treatment after March 31, contact your family doctor or visit Ontario’s COVID-19 web page.
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