How Kim’s Parental Intuition Helped Her Son James Get Diagnosed

By
Catherine Cooke
Jan 14, 2021 • 4 min read

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

Kim's story is one familiar to many parents. There is a seemingly unexplainable intuition that alerts you when something is amiss and fuels a drive to fight for your children at all costs. But it’s easy to question that intuition, especially when being challenged by experts. Kim’s story is one of trusting her instincts and being bold enough to question authority. But was she right in her intuition?

At 20 years old, Kim’s son, James, began navigating totally unfamiliar territory: managing an undiagnosed disease that was taking over his life.

His symptoms began when he was away at college. Like many college students, James was stressed after changing his major. At that time, he developed what his family lovingly referred to as “the wiggle” when he spoke, which Kim just attributed to his stress.

One night, James suddenly developed numbness in half of his arm. In just 24 hours, it spread throughout his body and then soon disappeared. Something seemed off. From afar, Kim urged her son to go to the hospital and get a blood test. The results? The bloodwork was tainted. He’d have to do it again. The second time? Tainted again. Hesitant, they tried one more time. Finally, he received news that his liver enzymes were elevated but that it was totally unrelated to his “wiggle.”

James’s symptoms got worse. He began drooling and became more and more quiet. Soon, he could barely eat on his own; it took him over an hour just to eat his lunch.

Although doctors told her otherwise, Kim wasn’t convinced that James’ symptoms were unrelated to his elevated liver enzyme results. She began diligently researching and discovered a rare disease that fell in line with all of his symptoms: Wilson disease.

But she questioned herself: “Who am I to bring that up? How ridiculous it is that the mother is trying to diagnose. This isn’t an episode of House. I’m not a doctor. I’m a teacher!”

Kim and her husband took James — who at this point had to leave college — to the hospital. He was diagnosed with early-onset Parkinson’s, but “just in my gut, I knew that wasn’t it,” Kim shared. Her husband questioned her taking on the doctors, but in her gut, she knew she had to keep pushing back, even if at risk of seeming crazy.

Finally, after pushing for answers from an array of doctors, they received a new diagnosis. Kim’s intuition was right. James had the rare disease she had found months before. Wilson disease is a genetic disease that affects the body’s ability to eliminate copper. This, in turn, affects the liver, kidneys and brain.

One year later, Kim shares that “he’s unable to talk, but he does try ... He can stand and walk with assistance. He can sit himself up. He can hold himself up. Mentally, he’s fully there and understanding what’s going on. He wants to talk so badly. He uses an autism app to communicate, but he has limited mobility in his fingers that prevents him from being able to use it fully.”

But there’s a glimmer of hope. From time to time, James has what Kim calls “breakthrough” moments and spontaneously he is better for a little while. He’ll stand, speak a few words and even laugh.

Kim now holds on tighter to her intuition: “I know I’m just the mom, but I truly believe that these little episodes of coherence and behavior show that there’s a path. There’s something there. I know he’ll never be 100%. I’m realistic, but in my soul, I know that he will get better. If I can just get him what he needs, he will improve. I know it!”

One of the ways Kim is working to get James what he needs is by joining AllStripes, a platform for rare disease patients to centrally store all of their medical records and make the de-identified information accessible to researchers who are finding treatments for their disease.

“I wanted all of his medical records in one place so that I could look back if I needed to or I could have a doctor go in and be able to see everything,” Kim said. “I also wanted for people who are doing research on this disease to have as much information as possible because there are so few. They should be able to have that access so that they can do whatever work they need.”

While it frustrates Kim that rare diseases receive so little attention and funding, she remains hopeful that organizations like AllStripes will be a much needed voice in the medical research field.

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.

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.