Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.
In early 2017, Ashly’s son Connor was diagnosed with a rare genetic disorder called Hunter syndrome that affects only 500 people in the U.S. Almost all are young boys like Connor, who was four when he was diagnosed.
Children with Hunter syndrome are missing an enzyme that prevents harmful molecules from building up in the body. It causes developmental delays and, even with treatment, it’s fatal. Life expectancy for patients with Hunter syndrome is 10 to 20 years old.
Ashly is active in pushing for new treatments in any way she can, including contributing Connor’s de-identified medical records to AllStripes to accelerate research on the condition. Accessing data from patients of rare diseases like Hunter syndrome is critical to help researchers learn about the condition, and design faster and more effective trials for treatments.
“Anything like AllStripes that can help shed light and bring more treatment options for others I’ll do,” Ashly said. “I need to fight for my son in every way I can.”
She admits she was intimidated at first to contribute his medical records. “But then you start thinking, ‘It’s my son’s life.’ My daughter could be a carrier so we might be protecting my future grandson too.”
When Connor was three, he began experiencing some hearing loss. He had been a late walker and talker, but his pediatrician wasn’t concerned yet since toddlers often have variation in when they hit milestones.
At four, potty training was a huge challenge. Connor’s stomach was often irritated so his family began taking him to a gastroenterologist.
“The doctors weren’t seeing it as a whole,” said Ashly. “They were looking at their specialty, no one was putting it all together.”
The GI doctor ultimately suggested an X-ray and saw Connor had an enlarged liver and spleen. After putting those symptoms into Google, Hunter syndrome came up, but the doctor tried to downplay the possibility given how rare the condition is.
“We went home and started looking up this diagnosis ourselves ... the kids look just like my son, he hit every single symptom,” Ashly said.
“We broke down, we said this is what he has. My son is going to die.”
The family had to become medical experts on Hunter fast, and be organized to get all the medical care needed. Ashly had to cut back her hours, to take on what she calls her third job.
“I have my work job, I’m a mom and then taking care of a special needs child is a third job,” she said.
The family was able to start Connor on a treatment designed to replace the missing enzyme in Connor’s body. A clinical study has shown it significantly increase patients’ ability to walk. Hunter syndrome patients on the drug typically receive weekly infusions.
For Connor, the infusions have helped stabilize his development, meaning it has plateaued but not regressed further. Within the first month they saw inflammation in his stomach went down and his attention was better.
Connor is able to attend school, and like many seven-year-olds, he loves cars, watching TV and doing cannonballs into the pool on summer days.
The family has found a rhythm, but the threat to Connor’s health is still very real and they want to see more progress toward a cure and better treatments now.
As for Ashly, she’s found a network of support among other families with children who have Hunter syndrome and by taking care of her own health.
“I do see a counselor, I’m on medication ... I have another child to think about so you can’t just curl up and live under a rock,” she said. She and her husband have moved out of the stage of not being able to eat or sleep, and she was graced with a moment of peace that she holds on to.
“I’m not super religious, but some peace came over me,” Ashly said. “Something came over me that we are going to be ok.”
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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.
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.
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.
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
Learn MoreWhen 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.
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.
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.
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.
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Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
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