How Having a Child With a Rare Disease Changed Danielle’s Teaching Style

By

Taylor Kane

Apr 30, 2021 • 2 min read

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

Having a background in childcare and education, Danielle took notice when her son, Julian, began missing milestones at four months old. Pediatricians told Danielle not to be panicked but all she could see were red flags. “My mother’s intuition said there was something bigger going on here,” she says.

Five months later, Julian was given the umbrella diagnosis of cerebral palsy.

“It’s a common misdiagnosis for any rare motor disease,” Danielle explains. When Julian was around two years old, his MRI showed results that were not congruent with cerebral palsy, so the family decided to pursue genetic testing. Julian was then diagnosed with Lesch-Nyhan disease.

Lesch-Nyhan disease is a rare condition that is hallmarked by self-injury similar to behaviors seen in some cases of severe autism. When Julian received his diagnosis, Danielle researched the condition and was shocked by what she read, with some Lesch-Nyhan patients eventually needing restraints or dental operations to ease their frequent self-harm. “Lesch-Nyhan is an amazingly devastating disease,” Danielle explains.

Danielle describes the day Julian was diagnosed as one she will never forget. She remembers she looked at her son and feared for what his future would be like. While she is grateful for how Julian is doing health-wise, she admits that she still hasn’t fully digested her son’s rare condition.

After Julian was diagnosed, Danielle did what most rare parents do and turned to the internet, particularly Facebook, to meet other families impacted by Lesch-Nyhan: “I’m a community member that is able to get valuable information from other parents who have been in the Lesch-Nyhan world for decades.”

Danielle believes she would be lost without these social media groups. ”I am so grateful for social media, because without it, how do members of the rare community connect globally?”

Today, after taking some time off over the years to help her son, Danielle is continuing her career as a teacher. Danielle has 15 years of experience teaching, and believes having a son with medical complexities has changed her teaching style. She makes an effort to “teach to all learners” and educate herself on her students’ specific needs and learning styles. She says she has brought so much of what she learned through Julian into the classroom.

When she is not at school, Danielle does whatever she can to help find treatment options for her son and other children with Lesch-Nyhan. An AllStripes Ambassador, she calls the platform a “Godsend that she needed.” She wants to help other Lesch-Nyhan parents understand that the AllStripes platform is a “safe place” that will help their community drive research forward.

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.

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.