# Karen Wants More People to Know Her Son — and to Learn About Lesch–Nyhan Syndrome

By

Cat Cooke

Jul 12, 2021 • 3 min read

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

"I've been through the ‘what’s wrong’ so many times,” sighs Karen, whose 8-year-old son Doug is living with a rare disease that affects his development. “But I’d prefer people ask rather than just stare.

When Doug was born, Karen wasn’t initially worried about him, but a few months later, her intuition told her something was up. “We noticed at about 2 months that he wasn’t holding his head up right,” she remembers. “I breastfed for 2.5 months, but he was really aggressive, and I would start bleeding. I put him on formula, but he also had acid reflux and gas. I jumped from formula to formula trying to find one he would hold down.”

Karen grew increasingly frustrated when her doctor didn’t take her concerns seriously. “He’d tell me, It’ll work itself out.”

Starting at 3 months old, Doug was completely inconsolable and up at all hours of the night, and eventually, when he was about 6 months, a hospital diagnosed him with a UTI.

“That same week, things went downhill very quickly. His eyes started sinking in and getting dark,” she explains.

She refused to accept that the UTI diagnosis was sufficient and took him to a different hospital demanding answers. As time went on, Doug seemed less and less like himself. He had stopped eating and only produced one wet diaper in a ten-hour period.

Karen remembers the doctors looking bewildered when they told her that Doug’s kidneys were failing and his esophagus was almost entirely eroded. Finally, they began to take her son’s case seriously.

Thankfully, Doug stabilized. He was given a feeding tube and seen by an array of specialists, including gastroenterologists, neurologists and geneticists.

It was after genetic testing that Karen and Doug got an answer. Doug was diagnosed with the extremely rare disease Lesch–Nyhan syndrome (LN), which is caused by a genetic mutation of the _HPRT1_ gene and affects mostly males. Symptoms may include self-injurious behavior, kidney problems, pulmonary issues and dysarthria (an inability to control speech-making muscles). Most people with LN do not live past their 20s, and current treatments are aimed at easing symptoms.

“My son is a very happy boy, but he gets into bouts where he is not happy,” Karen explains. “When he gets irritated, his arms and legs will flail, and he may hit when he doesn’t mean to.” Doug has to have mitts on his feet at all times because they’re a target of his self-injury, and he’s had to go to the hospital many times for the injuries he’s inflicted on his left heel.

Receiving a diagnosis helped Karen better understand her son. “He’s nonverbal, but he’s very aware,” she says. “He’s very smart.”

Karen has found a sense of community by connecting online with other LN parents, who she describes as a great resource for encouragement and information. One of the things she learned about from other LN parents is AllStripes, which she quickly signed up for.

AllStripes is a platform for rare disease patients and caregivers to centrally store their medical information online. No more having to remember where different files are. With AllStripes, everything is in one place.

AllStripes also provides researchers with de-identified medical records for the specific rare disease they are researching. This allows patients and caregivers to contribute to research without ever having to leave home.

“I just want to get out more information about LN so it’s not so secluded,” Karen says. “I want people to be more aware. I want LN to be brought out into the light.”

## 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.