Prepared for the 2 Percent

Nov 07, 2024 • 5 min read

For Marc, living with congenital adrenal hyperplasia (CAH) has been a journey filled with challenges, resilience, and careful management. His diagnosis came at age 3, but it wasn’t until his younger brother's health scare as a newborn that the family realized both siblings had CAH. It all started with some unusual symptoms—constant lethargy and an insatiable craving for salty foods—that eventually led to a diagnosis that would shape Marc’s life.

Looking back on his early years, Marc remembers the intensity of managing CAH. “From age 3 to 18, it felt like every missed dose or late treatment could change the course of my future,” he recalls. Those years were marked by constant vigilance, knowing that each day mattered. But Marc wasn’t alone—he had his family and a solid care plan to lean on. And with their support, he persevered.

The Strength of Support Systems

Throughout his journey, Marc’s support system has been key. His family played an essential role, always making sure he had everything he needed to manage his condition. “My grandparents always kept applesauce in the cupboard and knew exactly where my emergency shot was,” Marc shares, reflecting on how even small acts made a big difference.

Not everyone in Marc’s life understood CAH right away, though. He had to be patient with coaches and teachers who were hesitant at first, unsure of how to handle his condition. But through time and open conversations, Marc showed that CAH didn’t define him. “Once I proved I was starting-worthy, it wasn’t about CAH anymore—it was about what I brought to the table,” Marc says, underscoring how persistence and transparency helped him break down barriers.

Building a Routine for Stability

For Marc, staying on top of CAH means sticking to a routine. “Take my medicine, get my bloodwork done, stay in touch with my doctor—and all is well-ish in the world,” he says with a smile. That routine, established early in life, gave Marc the freedom and confidence to take charge of his own care. His advice to others is simple: build your routine early and stick to it. “The more responsibility I took over my care, the more freedom I gained,” Marc explains, encouraging others to take ownership of their health.

Joining the CAHtalog Registry

When Marc heard about the CAHtalog Registry through the CARES Foundation, he knew it was something he wanted to be a part of. “Anything that makes life smoother for families—whether it’s for parents of newborns or for adult patients like me—is invaluable,” Marc says.

Thriving in the Face of Challenges

Despite the hurdles that come with managing CAH, Marc has embraced life fully. He’s played competitive lacrosse, studied abroad in Europe, and now thrives in the world of startups. His resilience and ability to cope with stress have been essential to his success. “Meditation has been a lifesaver for me,” Marc shares. “When I was younger, I always had an exit plan ready for emergencies. That gave me peace of mind.” These strategies, combined with his natural ability to adapt, have helped Marc lead a fulfilling life despite the complexities of CAH.

Looking to the Future

As he looks ahead, Marc dreams of a day when he won’t need to rely on steroids. For now, he’s focused on what he can control—staying connected to the CAH community and helping others along their own journeys. Inspired by role models like Dina Matos, Marc has become a source of hope for younger generations of CAH patients. “I want to remind parents that for 98% of the time, everything will be fine,” he says, with the wisdom of someone who’s been there. “It’s just about being ready for that 2%.”

At PicnicHealth, we’re proud to share Marc’s story. His experience shows that while living with CAH can be challenging, there are always ways to adapt, grow, and thrive. Through resources like the CAHtalog Registry, we hope to continue supporting patients like Marc and making life a little easier for those living with rare conditions.

If you or your family has been impacted by CAH and are interested in contributing your experiences to advance research, learn more.

We know that every person's story is unique and deserves to be heard.

Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association.

Together, we can make a difference.

1. Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.

2. Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.

3. Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.

4. Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.

Having trouble managing your loved one's medical records?

Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.

LC-FAOD Odyssey: A Preliminary Analysis, presented at INFORM 2021

Data from real-world medical records:

(from 13 patients with LC-FAOD)

16 yrs old

Median age at enrollment

38% Female

15 providers / patient

7.5 years of data / patient

Data from patient-reported outcome (PRO) survey

(from 13 patients with LC-FAOD)

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Keep an Eye on These Test Results

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Resource Flyer

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Pre-Appointment Worksheet

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What to Expect

Before your video call:

A fully charged device(smartphone, tablet, or laptop) with a working camera, microphone, and stable internet connection.

A quiet, distraction-free area that is free from interruptions.

Time to focus without interruptions so the visit can be completed comfortably.

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