Canadian NHLer's widow Emily Cave Boit opens up about hemochromatosis diagnosis: What to know about the genetic blood disorder
The Barrie, Ont.-born writer says she's visiting the hospital every two weeks to get blood taken from her body, which is storing too much iron.
This article is for informational purposes only and is not a substitute for professional medical advice, diagnosis or treatment. Contact a qualified medical professional before engaging in any physical activity, or making any changes to your diet, medication or lifestyle.
Emily Cave Boit is opening up about a recent diagnosis and a months-long health journey that's been keeping her offline. The Barrie, Ont.-born writer and podcast host took to social media on Tuesday to share a candid video explaining to her fans why she's been so absent lately.
"I have been on a whirlwind of a medical journey the last few months," Cave Boit said, adding there are some things she wants to share and others she's not ready to put out into the world. She continued to explain health-care professionals did more research into her endometriosis and found she has a genetic blood disorder.
"All my blood work came back completely through the roof," she added, saying this all began around August and September of last year. Then in December, she underwent genetic testing and met with a hematologist, finding out she has hemochromatosis.
"Essentially, my body and blood have an extremely high and dangerous amount of iron in it, and with hemochromatosis, that iron can bind onto other internal organs," she explained, saying it can be "very dangerous."
Last week, she said she officially started her "treatment plan" of going to the hospital every two weeks, which she'll undergo for six months until being reassessed. Cave Boit added she has another appointment next week to get a scan on her abdomen to check for organ damage. Despite having surgery for her endometriosis in 2018, she has another procedure set for Jan. 24.
"That surgery, I think, holds a little bit more weight as there's talks about certain things happening in surgery that would impact my ability ... to ever have kids. So, that is a lot. But the hemochromatosis was definitely a surprise for me," she said, adding it's been "a lot to find out" about her health news, "especially here with no family or friends" and that she already has "a lot of medical PTSD" after her late husband Colby Cave died in 2020.
"Unfortunately, there's no cure for this, so it's just managing it," she shared. "As the hematologist said, 'Every patient is an art.' ... But you can live a very healthy and normal life."
What is hemochromatosis?
Hemochromatosis is a disorder that affect's the body's ability to regulate iron absorption. It's the most common inherited condition, with one in 227 people having hemochromatosis in Canada and the United States.
Normally, the body only absorbs the necessary amount of iron it needs, with the rest typically being excreted through bowel movements. But with hemochromatosis, the body continues to store that excess amount of iron in various organs and tissues.
While the liver is the first organ to store iron, an overload with this condition can build up in the heart, pancreas and other parts of the body. If left untreated, it can have serious consequences.
What causes hemochromatosis?
This hereditary condition has sometimes been called a "silent killer," according to the Canadian Hemochromatosis Society. While it's a condition that's genetic, the disorder still remains relatively unknown.
Hemochromatosis is most often caused by a gene called HFE, according to Mayo Clinic. A person will inherit one HFE gene from each of their parents, and might have the disorder if that gene has a mutation, which can be identified through testing. The most common HFE mutations include C282Y and H63D.
If someone inherits two of these mutated genes, they may develop hemochromatosis and can pass on the altered gene to their children. But if you only inherit one mutated gene, it's less likely you'll develop this condition. However, you'll still be considered a carrier and can pass down the inherited gene to your kids.
Cave Boit stated both of her parents are carriers and that she'll have this condition for the rest of her life.
What are the symptoms of hemochromatosis?
Cave Boit noted in her video that she thinks she misidentified a lot of her symptoms of the condition to grief, as she was mourning the loss of her late husband in 2020. "I'm not saying that I didn't have those things with grief but I think I made excuses."
She added people experiencing grief who might have similar symptoms should advocate for themselves in health-care settings. "I probably wouldn't be at such levels as I am now had I not just kind of chalked it up to grief."
The Canadian Liver Foundation noted people who have hemochromatosis will start retaining iron in their liver from birth. However, it might take 20 or 30 years before symptoms start to appear. Early stages of the disorder — which sometimes may be asymptomatic — might present as fatigue or swelling in the joints, particularly in the knuckles of the middle and index fingers. Later symptoms may include:
Abdominal pain or tenderness
Jaundice (yellowing of the skin and eyes)
Distention of the abdomen
Bleeding from dilated veins in the esophagus
Diabetes
Excessive hunger and thirst
Frequent urination
Loss of sex drive
Bronze or grey skin colour
According to Mayo Clinic, people typically don't discover they have hemochromatosis until later in life. For men, that might be after age 40. For women, a diagnosis often comes after menopause, when they no longer lose blood through menstruation and pregnancy.
Why is having too much iron bad for you?
While iron plays an important role in your body's functions, having too much of it can be toxic. An overload of iron due to hemochromatosis can cause severe damage — especially to the liver — that might lead to organ failure.
Excess iron can lead to serious health problems. In the liver, a buildup of iron can cause cirrhosis or permanent scarring of the organ, possibly increasing the risk of liver cancer and other complications.
Moreover, a damaged pancreas due to excess iron could lead to diabetes, while excess iron in the heart can lead to congestive heart failure or irregular heart rhythms. An excess of iron can also impact a person's reproductive health, causing a erectile dysfunction or a loss of the menstrual cycle.
How is hemochromatosis treated?
While there's no cure for hemochromatosis, it can be managed. Most often, a patient will have blood removed from their body on a regular basis, called phlebotomy, which is similar to donating blood. The Canadian Liver Foundation noted this procedure is usually done on a weekly basis, however, Cave Boit said she'll be taking hospital trips to get blood removed every two weeks.
The goal of phlebotomy is to lower the body's iron levels. Since the red blood cells contain iron, the body will draw on the excess iron to replenish the lost red blood cells.
Treatment can take up to two or three years, depending on how much iron has accumulated. While Cave Boit said she'll be reassessed after six months, her goal health-wise is to only have to get her blood removed a few times each year.
On top of phlebotomy, people with hemochromatosis may have to make lifestyle changes. While that doesn't necessarily mean a special diet, patients will have to avoid certain foods and supplements. This includes:
Iron supplements and multivitamins containing iron
Vitamin C supplements
Alcohol
Raw fish and shellfish to avoid infections caused by bacteria found in these foods
Let us know what you think by commenting below and tweeting @YahooStyleCA! Follow us on Twitter and Instagram.
