Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

Redefining Resilience: How Kenzi is Navigating the Challenges of MCTD, FCAS, and Medical PTSD

The rare disease community is full of people whose narratives capture the resilience, determination, and steadfastness needed to survive in the face of seemingly overwhelming obstacles. Makenzie Cabrera, a devoted mother and tireless advocate, is one of these people.

Last year, Patient Worthy spoke with Kenzi about her dedication to raising familial cold autoinflammatory syndrome (FCAS) awareness after her son Josiah’s diagnosis. FCAS is a rare genetic disorder characterized by episodes of fever, rash, and joint pain triggered by exposure to cold temperatures. Over the last eight months, Kenzi has noticed new symptoms appearing, sharing:

“FCAS is a spectrum. Sometimes the kids have symptoms at birth that worsen over time, but sometimes they don’t develop many symptoms at all. I didn’t know what to expect, how fast symptoms would come on, or if they’d come on. When he started showing signs this year, I knew it was related. He’s very sensitive to light and gets headaches with too much light exposure. We keep the lights off in the house, wear sunglasses, and even put things over the windows.”

Amidst managing Josiah’s changing condition, Kenzi has also grappled with other challenges: managing the home as her husband Julious joined the military, taking care of her own health following a recent mixed connective tissue disease (MCTD) diagnosis, fighting insurance issues, and working to integrate her son Jayse (who has thalassemia) into a space where he can meet other siblings of children with rare diseases—all while simultaneously pursuing a nursing degree!

Yet Kenzi forges ahead, determined to make a change not just for her family, but for others in the community who are looking for support. She shares:

“I have the mindset that ‘You can cry, but don’t cry forever. Get up. Go change the world and help someone so they don’t have to face what you’re going through.’”

Then, with a laugh, she adds:

“And a lot of coffee helps.”

This principle of determination and resilience has guided Kenzi’s tireless advocacy, motivating others to join her on the path to changing the medical landscape for those with rare diseases. Today, Patient Worthy catches up with Kenzi to discuss the latest updates on her journey, the need to address medical PTSD, and why rare disease awareness is more important than ever.

Transitioning Care Plans

When we spoke with Kenzi last, Josiah’s FCAS was being managed with a combination of monthly injections, as well as naproxen, prednisone, Tylenol, heel warmers, and hot temperature cups during the winter. However, Josiah ended up having a negative reaction to the shots. Kenzi shares:

“This drug definitely works for a lot of other families, but it was so bad for Josiah. Every 28 days, insurance made us travel to the infusion clinic. We were told that there are side effects like liver or kidney damage that can happen over time. For Josiah, these side effects happened in six months. He had an extremely rare reaction but was in the ICU by November [2023] because doctors thought he had hepatitis. His liver enzymes were over 2,000. This dropped his immune system, so he contracted RSV at the same time. Doctors had to cut him off of everything cold turkey, which spiked his FCAS flares, so he was flaring every day. It was horrendous, such a roller coaster of emotions. It’s extremely tough to see how drugs like this can affect kids, but the drugs are needed because the flares are just as bad.”

During this time, Kenzi had to withdraw from school to focus on caregiving. This was especially difficult as Josiah went on a downward spiral with his health: not eating or drinking, extremely pale skin, diarrhea, sleep difficulties. Doctors didn’t know what to do. Says Kenzi:

“Josiah is still a medical mystery. While he was in the ICU, doctors kept coming in and wanting to learn. It’s great that he’s teaching them something, but it was frustrating at the time. I also wish the doctors were more transparent with me. I don’t think they realized that I’m a medical student. I want honesty, even if it’s a punch in the gut. At the time, I didn’t know how bad anything was until I looked into his patient portal and saw updated notes. It would have been great if, instead of beating around the bush, they could tell me what to look for so I can do my own research and have that open line of parent-provider communication. When it comes to pediatrics, I sometimes feel like they test the waters slowly because they don’t know how parents will react. But I want that transparency. I want doctors to be more open to discussion.”

Medical PTSD

The International Society for Traumatic Stress Studies (ISTSS) describes medical trauma, or medical PTSD, as:

“Emotional and physical responses to pain, injury, serious illness, medical procedures and frightening treatment experiences.”

People with medical trauma may have a trauma response, which can show up as:

• Having stressful memories of the traumatic event(s) that can be triggered by smells, sights, tastes, noises, etc.
• Avoiding people, places, or things that remind someone of the event(s)
• Feeling nervous, anxious, on-edge, angry, or irritable
• Changing the way someone feels or thinks about themselves or others (such as no longer trusting doctors)

His hospitalization was traumatic and brought a lot of medical PTSD to Josiah. Unfortunately, says Kenzi, so has his new medication: a painful daily injection that Kenzi must administer at home. While she has performed injections in nursing school, she shares:

“It’s completely different when it’s your child. Emotions are involved. You hear them scream. You have them fighting against you. Josiah has severe autism so I have to hold him down and get the injection right the first time. It’s a lot of stress on everybody, especially because he doesn’t understand what’s going on. He knows that he’s sick and doesn’t feel good all the time and cries when his joints are swollen, but he doesn’t know why he has to get poked, why he has to get bloodwork. I wish he was older and gets to that day where he can understand that he has a rare condition and the pain only lasts for a little bit.”

Right now, there are only three FDA-approved injections, so if this doesn’t work, Kenzi and Julious plan to begin Josiah on the third injection and see what will happen. But starting a new drug also comes with its own set of concerns: will there be side effects? If so, how fast can they get him to a hospital?

A Potential Intervention for Medical PTSD

Kenzi, who was diagnosed with juvenile idiopathic arthritis (JIA) and also experienced HELLP syndrome and other complications during her pregnancy, is no stranger to medical PTSD. She shares:

“I remember getting injections and infusions when I was a teenager and it was awful. Plus, for me, having the issues I had during pregnancy, I’m scared to go back to the doctor. I don’t like to get gaslighted and it brings up old triggers and thoughts. But in Josiah’s circumstance, his medical trauma is terrible. He gets hysterical even driving by the hospital. Doctors—whether in books, at the hospital, or even people dressing up in a costume—are a huge trigger for him. It makes me upset because I know that doctors are there to help you, but he wants nothing to do with it.”

To Kenzi, it’s necessary for doctors and medical clinics to identify avenues to quash medical PTSD and provide a better, more relaxed, and less traumatizing treatment path for children with rare diseases. One option she suggests is therapy. She explains:

“It can be frustrating when doctors blame everything on the diagnosis, like when doctors blame Josiah’s autism if he hits or runs away. Yes, he has autism. But he also knows what’s coming: pain, getting held down. He has trauma. I really think when children have chronic illness, doctors should automatically recommend therapy. Why wait until the situation gets bad? Sometimes kids have an outlet that is destructive behavior. Take the steps to put us in the right direction so that my child can work through those emotions. Therapy can be a great thing for kids. I find it frustrating that we get these diagnoses and are expected to do right by our kids, but we’re judged if we do ‘wrong’ even though we’re not given any help.”

A Recent Diagnosis

As she’s been pushing forward in raising awareness for FCAS, Kenzi received a surprise when she learned that she, too, had a rare and chronic inflammatory disease called mixed connective tissue disease. She began looking for answers after her joints and muscles began to ache. Her fatigue was worsening. Initially, a positive ANA suggested lupus. However, after normal joint x-rays, an MRI showed tissue deformities. Much like with FCAS, Kenzi doesn’t know exactly how MCTD will progress. She shares:

“I was told that this could transition into something else down the road—Sjogren’s syndrome, osteoarthritis, rheumatoid arthritis, lupus—but doctors couldn’t provide much insight. It’s frustrating to receive a big information packet on MCTD and then be told I can call a doctor but they might not know the answers. I pray that this doesn’t worsen, and I’m just holding on and taking every day as it comes.”

Much like Kenzi advocates for therapy for children with chronic illness, she also sees its value for adults with chronic conditions, noting:

“I struggle with anxiety and the medical aspect of being sick. Therapy has been very helpful in breaking through triggers. It’s nice to have that adult communication. You’re a patient, you’re a parent, you’re a caregiver – but you’re also a human. I think about the future and how kids move out and go to college, and I worry that won’t be my life. Therapy gets me to the point where I can get over that hump.”

Throughout this process, Kenzi’s husband Julious has been a pillar of support and stability. Recently, Julious enrolled in the U.S. Army; despite being away, he keeps in contact with Kenzi and the boys as much as he can. One of the reasons that Julious joined the military is because of Tricare and the military healthcare benefits. Says Kenzi:

“Hour by hour, day by day, we’re not thriving but we’re surviving. I miss Julious but I am so grateful for everything he is doing to support our family.”

Filling Her Cup

Life can be challenging, exhausting, and frustrating. Yet even when Kenzi feels that her cup is empty, she finds ways to fill it by giving back to and helping others. She continues to raise FCAS awareness, including educating people about invisible illnesses, sharing:

“When Josiah is ‘healthy,’ he looks like the typical happy two-year old. What people don’t see is how hard it is for socializing—toddlers have so many germs that he can’t be around because he’s immunocompromised—and his medical PTSD. They don’t see the mileage on our car from traveling, or the insurance difficulties, or the cost of lodging. They don’t see his rashes or his joint pain. To me, a crucial part of awareness is teaching people that just because you can’t see something doesn’t mean it doesn’t exist. These are issues that so many people in the rare disease community face.”

Outside of awareness, Kenzi is continuing to pursue her nursing degree. She is also an autoinflammatory council member for the Young Patients’ Autoimmune Research and Empowerment Alliance (Young Patients’ AREA); the first parent on the Pain Management Committee for Pediatrics; an advocate for gene therapy (England developed a gene therapy for thalassemia, Jayse’s condition, and Kenzi would like to see the US come on board soon); and part of the Quality Improvement Council at the hospital. She shares:

“As a nursing student and caregiver, I can give my perspective from both sides. This gets doctors thinking about doing a study, doing a survey, or reaching out to other parents. Doctors can get so many good ideas from parents whose kids are like mine. We’re the ones with the kids all day. I do whatever I can to spread awareness so that other parents don’t have to go through what my kids do, or what I did as a child.”

The Boys Today

Since we last spoke, Jayse has flourished. Eight months ago, he was starting to talk but still relatively non-verbal. Now, at almost five years old, he can hold almost a full conversation. Kenzi shares:

“He definitely has turned a leaf and is starting to communicate more, which I’m thankful for. He’s starting to talk back and question everything. After Julious left, I encouraged Jayse to use his words. One day, he said, ‘Mom, I want this.’ Within 30 days, the vocabulary that I always knew he had was amazing. It warms my heart.”

While Josiah is still non-verbal, Kenzi is working on getting an AAC board to assist with communication. But the boys are still thick as thieves and communicate in their own way. One of their favorite ways? Wrestling. With a laugh, Kenzi says:

“Boys will be boys, I guess.”

This year, if time works out, Kenzi also wants to bring Josiah and Jayse to a NORD conference to introduce them to other children with rare diseases. The benefit, as Kenzi sees it, would be two-fold:

“I can’t imagine how Jayse feels with separations, Josiah’s hospital stays, and babysitting. I don’t ever want him to have any resentment or feel ‘less than’ because we have to do things with Josiah. Taking him to a conference means that he’ll get what he deserves: to meet other rare disease siblings who go through the same struggle. I’m also just excited to show them both that there are other rare kids out there. No matter where they go, I hope they know they’re not alone.”