When Kandise MacLeod was twelve years old, she began noticing various growths and tumors popping up on her bones. These sometimes caused pain or discomfort; in one case, Kandise even dislocated her right arm due to the growths. Her family took her to the doctor, but nobody was able to provide many answers. Says Kandise:

“I wasn’t really given a concrete diagnosis. They just assumed that if they removed the bone, I’d be good. Altogether, I’ve had eight surgeries removing the growths. I have a tumor on the back of my leg the size of a fist that I wish I had gotten removed as a kid. It’s difficult because there’s some pain and pressure, but with work and kids and family, I just don’t have enough time to deal with it now.”

For years—decades, even—Kandise lived her life as best as she could with the little answers that she had. It wasn’t until she was pregnant with her daughter that her obstetrician sent her for genetic testing. The results showed that Kandise has a rare genetic disorder called hereditary multiple exostoses (HME).

Since learning about her HME diagnosis, Kandise has developed a stronger sense of self and has become more comfortable not just with her condition, but with raising awareness. Her goal is to show others that there is no shame in being rare—and that there is always support waiting for you if you just look for it.

Recently, Kandise and I spoke about her journey to self-empowerment, what HME is, and her advice for others in the rare community.

Hereditary Multiple Exostoses (HME): An Overview

Hereditary multiple exostoses, sometimes referred to as hereditary multiple osteochondromas (HMO), is a rare disorder in which multiple benign (non-cancerous) bone tumors form near the growth plates of bones like the long bones of the legs and arms, pelvis, ribs, hips, shoulder blades, and vertebrae. EXT1 or EXT2 gene mutations cause HME. It is inherited in an autosomal dominant pattern, meaning you only have to inherit one mutated gene to have HME. These genes normally encode an enzyme that helps to synthesize heparan sulfate. Kandise explains:

“New research suggests that the bone growths could be a result of heparan sulfate deficiency. From what I’ve looked into on my own, and what I’ve seen in Facebook groups, a lot of the symptoms of HME that I have can also be linked to heparan sulfate deficiency: digestive issues, a prolapsed mitral valve, a learning disability, joint pain, fatigue. I brought this up to my doctor and asked them to do some research, but was told that they didn’t have the time. It can be really difficult to find doctors that will go the extra mile to figure things out with you.”

Typically, symptoms of HME arise by the time affected individuals are twelve years old. Symptoms and severity vary between individuals. Potential symptoms, outside of those that Kandise listed above, may include:

• Uneven limb lengths
• Arm, knee, ankle, spine, or pelvis deformities
• Nerve, tendon, and blood vessel pressure
• Movement limitations and/or pain during movement
• Difficulty walking
• Short stature
• General pain and/or discomfort
• Increased risk of sarcoma

Surgery is the current standard-of-care for people living with hereditary multiple exostoses. If the tumors become cancerous, chemotherapy and radiation may also be used therapeutically.

Kandise’s Story

As Kandise grew older, she was always aware of the tumors growing on her bones. She would occasionally visit the doctor searching for more answers, but the search was fruitless. Kandise explains:

“Doctors order tests but if the tests come back with no results, they just kind of wash their hands of it—even if you’re still experiencing symptoms. Sometimes symptoms are nonspecific and it can be really frustrating to feel like the doctor has given up on helping. In Canada, you can also really only tell doctors one problem at a time. They don’t really have the time to listen and so it can be hard to put everything together.”

When Kandise was pregnant with her daughter, doctors noticed that she had extremely low sodium levels. Kandise shares that this was shocking, as:

“I eat salt like a fiend.”

Paired with the various growths throughout her body, Kandise’s doctor decided to send her for genetic testing. The goal was to determine whether Kandise’s condition could potentially be passed to her baby. Nearly 27 years after her symptoms arose, Kandise finally received an answer when her genetic test showed an EXT1 mutation. She says:

“I didn’t hear the name Hereditary Multiple Exostoses at all in my life until the last six years. Even though I’ve been living with HME, I feel like I’m being diagnosed now. I started seeing a naturopath who has been doing some research for me and that’s been really helpful in deciphering all of the information.”

Join us in Part 2 as we discuss what Kandise has learned about HME, how she has overcome shame associated with her condition, and her thoughts and advice for the rare disease community.