Whole Exome Sequencing Gave This Family a Diagnosis That Changed Their Whole Perspective

Whole Exome Sequencing Gave This Family a Diagnosis That Changed Their Whole Perspective

By

Taylor Kane

Jan 22, 2021 • 3 min read

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

For more than a year, Mia had been having tremors that got progressively worse. After a trip to the emergency room, an MRI showed that she had lesions on her brain. The doctors thought Mia had an autoimmune disorder: possibly Guillain-Barre syndrome.

McKenzie reveals that deep down, she knew her daughter wasn’t suffering from Guillain-Barre, but she wasn’t exactly sure the cause of Mia’s symptoms. A follow up MRI showed that Mia’s lesions had worsened.

The family made the decision to pursue whole exome sequencing, a type of genetic testing that investigates the protein-coding regions of the genes in a person’s genome. It took about three months for them to receive the test results.

“The wait was really scary. They’re looking at so many different genes and I had so many different fears running through my mind,” McKenzie says. When she finally got the call from Mia’s doctor asking her to come in to discuss the results, McKenzie explains that she was relieved because she knew that there was some answer.

When McKenzie and her husband arrived at the doctor’s office, they initially met with a genetic counselor, who told them that their daughter had SURF1-associated Leigh syndrome, a rare condition she had never heard of. Then, the genetic counselor left the room to get the doctor. “As soon as she left the room, I got on Google,” McKenzie admits. “It was really overwhelming and scary at that point, because she hadn’t told me the things that I was going to find on the Google search.”

In McKenzie’s words, SURF1-associated Leigh syndrome is a disease that “inhibits the body from making the energy it needs to supply the organs so that they function properly.” She describes the diagnosis as still being a fresh wound since her daughter was only diagnosed last June. She has battled feelings of guilt because the condition is genetic, but knows it is truly not her fault.

McKenzie and her husband have another daughter, younger than Mia, who is a carrier but does not have the condition. Mia’s younger sister understands that Mia is different from her, and tries to help her whenever she can. “Her younger sister, she’s two, and she helps Mia take off her shoes and take off her braces. She holds her hand when she’s going up and down the stairs,” McKenzie explains.

She wishes everyone could be as understanding.

“I wish people understood what parents with children who have rare diseases go through,” McKenzie says. “Sometimes you just need someone to listen.”

As an AllStripes Ambassador, McKenzie says she will jump at any opportunity she can to help her child and any other child who is impacted not only by SURF1-associated Leigh syndrome, but by any rare disease.

Since Mia’s diagnosis, McKenzie explains that her perspective has changed.

“I used to be someone who was about the bigger picture, but now I’m taking things more day by day.”

She and her husband have switched their focus to make Mia’s life the best it can be and they maintain hope that there are better things to come for her.

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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.

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

Data from real-world medical records:

Data from patient-reported outcome (PRO) survey

You can download the related documents for better understanding.

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