Dear Healthcare System: A Caregiver’s Reflections from Raising a Child with a Rare Condition

November is National Family Caregivers Month. This is a time to celebrate, uplift and listen to the stories and experiences of caregivers whose persistent dedication and commitment often go unseen.

Navigating the healthcare system and caring for a child with a rare condition isn’t easy.

Julie and Jason Friedman know firsthand the complexity of caring for a child with a rare condition. Their daughter Lily was diagnosed with 1p36 deletion syndrome at 11 months old. During 16 years of navigating the healthcare system, the Friedmans have faced countless challenges from constant shifts in the care team to communication breakdowns. Through all of this, their community, family, and unending love for their daughter have guided the journey from caregivers to advocates.

Change is the only constant in the caregiver journey.

Through their years of supporting and nurturing Lily, change has been a consistent piece of their story. Like anyone, Lily is constantly changing. As she gets older, her diagnosis looks a little different, which means Julie and Jason must keep a keen eye on her evolving needs. Additionally, finding a consistent, well-equipped care team has been a huge challenge for the family.

Their daughter’s diagnosis straddles the line between healthcare and behavior, making her case unique. Lily’s diagnosis requires the right individuals providing care for her in the right way at the right time. Julie explains that the complexity of her daughter’s diagnosis has resulted in high turnover in their care team, which creates added difficulty for the whole family. Julie even became certified as a home health aide to better provide care for her daughter when other options are not available.

Building community, sharing stories, and fostering connections gives rise to advocacy.

Julie and Jason describe how their connection with other families caring for a child with 1p36 have helped them feel seen and understood. Facebook groups and in-person 1p36 conferences have given the family an avenue to build community, share their story, learn from others and advocate for their daughter and the whole community. Over the years, other 1p36 parents have become mentors to Julie and Jason. The Friedmans are now able to return the favor by mentoring other, younger families going through the same stages they’ve faced during 16 years of caring for Lily.

Additionally, Lily’s three older siblings have grown up learning to advocate for their little sister. Julie and Jason have tried to be aware of the impact having a younger sibling with significant healthcare needs has on her older siblings. Sibling support is a crucial piece to a family navigating a complex healthcare journey.

Health systems play an important role in supporting caregivers better.

While this journey has not been easy, certain therapies, technologies, and simple acts of listening and support have made each day more manageable. Two factors that have greatly improved their experience are clear communication across health systems and expanded telehealth capabilities.

Jason recalls an experience during a hospital stay when Lily had a reaction to a medication. After consulting with her doctor, they switched the medication. However, this critical piece of information was not communicated across the care team. A couple hours later, a nurse was preparing Lily’s IV when her dad realized it was the wrong medication. Luckily, they were able to alter course before it was administered. Unfortunately, communication mishaps are common in health systems where information is not disseminated throughout the team.

According to Julie, one of their best experiences was at a health system where “they thought of everything from A to Z.” The hospital put the needs of the patient and family first—they were incredibly efficient when scheduling, as well as clear and proactive in their communications, before, during and after appointments. While the Friedmans must travel out of state to receive care at this facility, they can schedule back-to-back appointments, saving valuable time and limiting disruption in Lily’s routine. Every step of the patient and caregiver journey from appointment scheduling to the in-room experience has been carefully considered, removing unnecessary stressors for her and her family while also making it simple for Lily to receive the highest quality healthcare available. 

Additionally, advances in telehealth services have significantly improved the experience of care for not only Lily, but also Julie and Jason. Routine doctor visits previously involved significant travel and wait times, creating tremendous disruption in Lily’s daily schedule. Because routine is so crucial to Lily, telehealth allows Lily to see the doctor from the comforts of her home, reducing disruption in her day. For Julie, telehealth not only saves time and eases the process, it also enables them to meet Lily where she is at in her healthcare journey.

Lessons learned present an opportunity to improve your health system.

The Friedmans’ story offers important lessons for health systems seeking to improve the patient and caregiver experience. Here are three ways your health system can support caregivers, streamline care, and improve overall experience.

1.  Keep the patient and caregivers at the heart of everything.

Consider each part of the experience—making an appointment, sitting in the waiting room, creating comfort and entertainment in the patient room, interacting with providers and easing follow-ups—as an opportunity to better serve patients and their families. Each of these steps offers ways to relieve pain points.

2.  Communicate clearly and efficiently among all members of the care team.

Ensure everyone is on the same page. Physicians, nurses, therapists and pharmacists must have clear and efficient communication. Otherwise, care delivery, and ultimately the patient, suffers. Keeping patient charts up to date and sharing pertinent information across the care team ensures a better experience and improves outcomes.

3.  Use available technology to innovate care delivery.

Health systems can use available technology to integrate information and care delivery in an instant. Taking advantage of the opportunity to modernize helps families feel more in-control, informed, and empowered while meeting healthcare demands of the future.

Improving patient and caregiver experience begins with you.

Personal stories like the Friedmans’ give a voice to the challenges faced by millions of families every day. For them, hurdles in the healthcare system are significant. Julie offers a sense of hope and encouragement to other caregivers. “Give yourself grace and give others grace too.” Her words serve as a perspective shift for those who have never experienced the responsibility and commitment required of caregivers. Their story reminds everyone involved in care to be patient, become educated on specific challenges, and build a supportive community for the caregivers whose work is often invisible.

If you are interested in learning more about 1p36 Deletion Syndrome visit: 1p36dsa.org