Complex rare disease has Kaci Adams searching for medical answers

Kaci Adams isn’t a doctor, but sometimes she has to feel like one. The married 43-year-old mother of three has the rare disease Klippel-Feil Syndrome (KFS).  

Klippel-Feil Syndrome is an extremely complex disease with many potential symptoms and disease paths. Finding a medical specialist or expert to advise and help with her rare struggle has been difficult.

“I found out a lot about my disease on Facebook,” said Kaci, who lives in Vancouver, Washington. “I do a lot of my own research. I buy books, read articles and do whatever I can to get as much of the best knowledge as I can about myself.”

Klippel-Feil syndrome is a rare bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The specific symptoms associated with KFS vary greatly from one person to another.

In addition to the fusion of certain vertebrae, KFS can be associated with a wide variety of additional anomalies affecting many different organ systems of the body. The progression and severity of KFS can vary greatly depending upon the specific associated complications and the Class of KFS. Some cases may be mild; others may cause serious, life-long complications.

“It started five years ago around Christmas I was having neck pain and it wasn’t going away. I thought maybe I was sleeping funny or something,” Kaci said. “I saw a doctor and was told they found KFS. Then I had surgery done on my upper spine. I was told I wouldn’t be in pain anymore. I had high hopes. But the pain was still there. So I did more PT and pushed through and the pain was still there.”

And five years later, the pain is still a major issue complicated by a growing list of symptoms associated with her KFS diagnosis including fibromyalgia and Chiari malformation (CRE) Type I.

“It’s been a long journey over the last years to find doctors who know what they are doing,” Kaci said. “With everything going on, I can kind of put two and two together now if I look back based on everything I know now.

“In all honesty I still haven’t been given enough information from doctors so far. I’m doing a lot of the research on my own to figure out what tests I might be able to take and being able to explain the issues I’m having to maybe, hopefully, finding an answer as to why.”

What Kaci knows for sure is the pain she experiences is fairly consistent and prevalent. And that constant battle, plus trying to be a mother to her two daughters at home, Mackenzie (14) and Averie (11), makes each day a challenge.

“It’s the pain, and trying to manage the pain that is tough,” Kaci said. “I see a pain management doctor who is amazing. We try something and it works for a while and then it doesn’t. I’ve tried so many things for pain.

“I have moments where I ask myself … I’m only 43 and is this what I have to look forward to the rest of my life?”

The impact of her daily struggles – extremely rare and complex disease, multiple symptom flare-ups, lack of information from medical experts and pain – has been exacerbated in 2020.

Kaci isn’t exactly sure medically speaking if she would be classified as having an underlying condition that would put her at higher risk if she contracted COVID-19.

All she knows is that since March when the pandemic first hit the United States, her anxiety has been elevated on many fronts.

When the virus first appeared Kaci said she was nervous and kept close tabs on what was happening. She and her girls stay inside for the most part. Her husband of nearly 15 years, Seth, does all the shopping. Seeing people refuse to wear face coverings not only angers Kaci, it makes her even less inclined to leave the house.

“To be honest I’m terrified,” she said. “I don’t want to get this. I have no idea how this would impact me. My one daughter has some of the same physical issues as me and that has me very, very nervous as well. I’ve basically been isolating.”

Staying at home and not being able to go out or do much isn’t a stretch for Kaci. It’s been a good bit of her life the last five years. Seeing how family, friends and fellow Americans have dealt with this has been oddly bizarre in her view.

“It was weird to see people having to live at home and deal with the same kind of isolation I’m used to. It was still bizarre, but I could relate for sure. It sucks, right?” she said. “I really feel for people because it’s been difficult and hard. But we have this whole community of people with rare diseases that this is their life.” 

Kaci feels compelled to advocate for herself and other patients in the Rare Disease Community despite the current circumstances in the world.

“Those of us in the Rare Community are used to unknowns. We are not afraid. My hope is that this is an eye-opener for people,” Kaci said. “Be more intentional about what matters, being respectful of others and listen to what science is saying.

“I want more doctors focused on rare diseases, but right now they need as many of them as possible working to stop this virus. Be grateful for the work they are doing.”

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