Make sure to read Part 1 of Kandise’s story. In Part 1, she discusses some of the symptoms of hereditary multiple exostoses (HME), as well as how she finally reached a diagnosis. Today, Kandise discusses what she’s learned about HME so far, how she has overcome shame associated with her condition, and her thoughts for the rare disease community.

Learning about HME

After her daughter’s birth, Kandise’s blood tests showed that she still had low sodium levels. She also sometimes felt dizzy, especially when she tried to cut out salt and stay extremely hydrated. When she thinks back, she says:

“Now that I know that HME is linked to heparan sulfate, it makes sense to me. I tried to improve my health and it almost killed me! Outside of that, I didn’t really have time to think about HME. It wasn’t until the pandemic that I got more interested in research because I wondered if it would have more impact given my underlying disease.”

Because of the inheritance pattern of hereditary multiple exostoses, Kandise’s two children (ages 3 and 6) have a 50% chance of inheriting HME. She and her husband have, for now, decided to wait on genetic testing for the kids. While it would provide some answers, Kandise does not want to put the children through unnecessary medical testing or procedures unless they start showing symptoms.

Overcoming Shame

Shame (noun): a painful emotion caused by consciousness of guilt, shortcoming, or impropriety

Unfortunately, we live in a world that tends to ostracize people, things, or situations that are seen as different or that we don’t understand. When we ourselves are different in some way, it can make us feel othered or isolated. Sometimes that means we hide who we really are out of fear of judgment or bias.

In Kandise’s case, she struggled with shame relating to her learning disability as well as her hereditary multiple exostoses. She shares:

“Having a learning disability can make it harder to socialize and learn social norms, so it has been challenging to find the right people for my own personal support community. When I met my husband, I didn’t want to advertise myself as ‘damaged goods’ so I didn’t talk to him much about HME or the learning disability. I tried to bury the symptoms but I knew I deserved more in life.

Now I know that my husband will love me no matter what. It’s so rewarding when you find your people. Not everybody is going to understand and that’s okay, but don’t let them be a deciding factor in how you live or how you feel about yourself.”

Getting to this point required reflection, introspection, and an understanding that our collective differences are beautiful. Says Kandise:

“I’ve proven myself as a boilermaker welder and radiation protection coordinator. I’ve shown people my abilities personally and professionally. I’ve raised two beautiful kids. And now I see that there’s no room for shame. Everybody has different abilities and disabilities, strengths and weaknesses. We have to stop stigmatizing people and instead look at everything that they bring to the world! I’m done being ashamed.”

To empower herself and her children, Kandise even wrote and self-published a book entitled: “Success—Rising Above a Learning Disability.”

Speaking to the Rare Community

In finding and empowering herself, Kandise has also become more determined to help others on their rare disease journey. She advocates for research into the long-term impacts of HME and whether gene therapy could be beneficial. She reminds people that they don’t need to put themselves in pain for anybody else, to know when to say ‘no’ and not overdo it. She encourages people to be their own advocate, saying:

“I want people to know that it takes a lot of strength to be your own advocate. I’ve found a lot of it, but there are days when I’m still trying to muster it up. I’m so thankful for doctors and people who want to help others. And they’re busy, I get it. But it can be hard to get answers with rare diseases. There needs to be more preventative care and proactivity in identifying what might be catastrophic later in life. Always fight for your answers.”

And most of all, she offers support, care, and community. Kandise knows that a rare disease diagnosis can come along with a number of emotions. While receiving an answer can be validating and overwhelmingly happy, it can also be overwhelmingly sad. She shares:

“Just know that you can move slowly. Give yourself time to process. You will be okay.”