How Stephan Learned to Cope With His Son’s Completely Unexpected Diagnosis of SURF1-Associated Leigh Syndrome

How Stephan Learned to Cope With His Son’s Completely Unexpected Diagnosis of SURF1-Associated Leigh Syndrome

By

Taylor Kane

Mar 11, 2021 • 2 min read

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

In July 2018, Ben began having undefined seizures and was described by his father as “wobbly on his feet.” Various examinations at different hospitals were not providing any answers, which drove the family to pursue whole exome sequencing. While they awaited the results, Ben started having additional symptoms of shaking and squinting.

Based on the results of the sequencing and an emergency MRI in November 2019, which showed lesions on Ben’s brain, he was diagnosed with SURF1-associated Leigh syndrome.

Stephan says he didn’t expect the diagnosis and that he and his wife felt like they were alone in the world. “We thought getting a diagnosis would finally make it easier, but the diagnosis pulled the rug from under our feet.” There is no treatment for SURF1-associated Leigh syndrome, which causes degeneration of the central nervous system and results in rapid neurological deterioration and loss of motor skills. However, Stephan is very hopeful about the work of CureSURF1 and for investigational gene therapy as a treatment for Leigh syndrome. By joining AllStripes, Stephan is also part of a community growing knowledge about the condition to improve the future for his son and all children with SURF1-associated Leigh syndrome.

“We have a diagnosis and a battle to be won to get treatment.”

Today, Ben is 5 years old. Stephan describes him as the funniest and smartest person he knows, and a “very wise soul.” While life as a rare disease caregiver isn’t always easy, Stephan says a smile from his son helps him regain his strength.

If Stephan could go back in time to when Ben was first diagnosed with Leigh syndrome, he would tell himself that he can get through this. Ben’s Leigh syndrome symptoms remain relatively mild, and Stephan hopes they stay that way.

Still, Stephan is eager for a treatment for his son as soon as possible.

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.

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)

Learn more about contributing to IgAN research with PicnicHealth.

Learn More

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 with enough space to walk a few steps if applicable.

A chair that you can use during any movements or tasks you’ll be asked to perform.

The tripod mailed to you via Amazon.

What to Expect

Schedule your visit

Use the scheduling link on your PicnicHealth Research Dashboard or the link sent to your email. Tip: Search your inbox for “New task for the BEACON-SLE Study - schedule your remote visit” to find the scheduling email.

Check your confirmation

You’ll receive an email with your appointment time and instructions for joining the video call.

Join the call

Click the Zoom link sent to you by email or text message, or use the link available on your research dashboard.

Meet with the research staff member

Receive Compensation

You’ll receive up to $60 for completing your visit.

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.