To Honor Her Sons’ Legacies, This Mom Dedicated Her Life to Helping Others

By
Taylor Kane
Nov 23, 2020 • 3 min read

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

"I have walked the walk that so many fear. I have felt alone. I have felt betrayed. I have felt there was no one else who could understand my pain,” Michelle says when reflecting on her family’s journey with a rare disease called Lesch-Nyhan disease.

When Michelle’s firstborn, Keith, began to bang his head on the floor when rolling over, Michelle tried not to worry. A few months later, Keith began to twist his hands inward and was having trouble learning to sit up and grab at toys. After taking Keith for neurological testing, Michelle says a neurologist told her the issue wasn’t brain damage and diagnosed him with atypical cerebral palsy.

Michelle pushed for further testing. However, the next few years produced more questions than answers, and Keith’s symptoms continued to progress and become more concerning. Michelle noticed that his diapers appeared to be filled with a substance that looked like orange sand, but doctors seemed unconcerned.

When Keith was two and a half, he began biting himself. Michelle placed splints on her son’s arms and gloves on his hands.

“Sometimes, we were trying to protect our child from himself,” Michelle explains. Ultimately, Keith received a diagnosis of Lesch-Nyhan disease.

Lesch-Nyhan is a genetic disorder that causes a deficiency of the HRPT enzyme. Abnormally high levels of uric acid build up in the body, causing intellectual disability and self-injuring behavior. Doctors warned Michelle that Keith would continue to self-mutilate.

One morning when Michelle was changing Keith’s gloves, she discovered that Keith had severely damaged his thumb: “There before my very own eyes was what was left of a thumb.” The wound had already begun to become infected.

As this was the mid-1990s, access to the internet was not as widespread, so Michelle headed to the local library. She found very little information on Lesch-Nyhan disease.

“I felt so alone,” she explains. Later, when the internet became more accessible, Michelle was able to find a community and begin to help others impacted by Lesch-Nyhan.

Soon after Keith’s diagnosis, Michelle discovered she was pregnant again. Even before her second son, Daniel, was born, Michelle had a bad feeling. When Daniel was three months old, Michelle noticed the orange-sand substance in his diaper.

“My hopes once again shattered,” she recalls. A few months later, testing confirmed that Daniel, too, was impacted by Lesch-Nyhan disease.

“There seemed to be no hope… I was lost in my own world of self-pity.” Michelle admits that her sons’ diagnoses made her mad at the world. As time went on, she became less angry and even more focused on being a caregiver for her sons.

Sadly, both Daniel and Keith ultimately passed away from complications related to Lesch-Nyhan disease; Daniel in 2010 and Keith in 2012.

Michelle wishes people understood that while Lesch-Nyhan disease causes self-injury, individuals with the condition have no control over their actions.

“It’s like their bodies are their worst enemy,” she explains.

Since her sons’ passing, Michelle has dedicated her life to helping caregivers of children with Lesch-Nyhan. She is a leader of a Lesch-Nyhan Facebook group and often talks to caregivers on the phone, helping them to navigate their challenges with the disease. She also founded a non-profit organization called Love Never Stinks and helped organize the first-ever Lesch-Nyhan disease conference.

Michelle says that the memory of her sons drives her to continue to help others in the Lesch-Nyhan community.

She recently became an AllStripes Ambassador and helped launch our Lesch-Nyhan program. AllStripes is a rare disease research company working to unlock new treatments for people with rare disease.

Michelle became an ambassador because she believes the Lesch-Nyhan community’s participation in AllStripes will lead to more research, and help set protocols for medical professionals to use when caring for patients with Lesch-Nyhan disease.

Ultimately, Michelle is a believer that everything turns out the way it is supposed to. She sees her children as a gift from God, and said they are the reason she will continue to help others and work toward a better future for those impacted by Lesch-Nyhan disease.

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 who 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.