# ‘We Didn’t Know What Was Happening to Her’  
By  
José Vadi  
Jul 19, 2021 • 3 min read

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

"Hi, Amber, I love you — can we hang out later?” Julie asks when her daughter enters the room. She assures Amber that they can try calling her grandmother in just a bit, and the 15-year-old responds with a warm hug. “This is Amber,” Julie says, with a happy laugh.

Diagnosed at 10 years old, Amber has Kleefstra syndrome, a genetic condition that affects many parts of the body. Kleefstra syndrome, also known as 9q34.3 deletion syndrome, is caused by a mutation or deletion involving the gene EHMT1, which is on the long arm of chromosome 9 and controls how other genes are turned on or off. Symptoms include intellectual disability, delayed development, limited or absent speech and low muscle tone. Current Kleefstra treatment is aimed at easing symptoms of the condition, and there is currently no targeted treatment.

Julie says that video-chatting with her grandmother, who sings and tells stories, is one of Amber’s favorite activities. She also enjoys doing puzzles, swimming, dancing, playing basketball, reading books and going for walks. “At 15, she has between 20 and 30 words,” Julie explains. “She uses an electronic speech device and is able to communicate quite well with that.” But last summer, Amber stopped acting like her usual self.

In July of 2020, Amber started experiencing a number of physical and psychological symptoms, including periods of psychosis and very abnormal eye movements. Doctors weren’t quite sure exactly what was causing her symptoms or how to treat them.

“It was absolutely awful,” Julie remembers. “We didn’t know what was happening to her.” Julie knew that a Kleefstra regression was a possibility, but felt like she was in “no man’s land” as doctors tried to figure out how to help Amber.

A combination of seizure medications, nausea and vomiting worsened Amber’s symptoms and made her regression more pronounced. She became extremely sensitive to light, which meant her family had to cover all the lights in her hospital room, including the smallest lights on a television. She underwent multiple EEGs to determine whether her eye movements were seizures or an autoimmune response caused by Kleefstra syndrome. Specialists at multiple hospitals were in contact with each other to monitor Amber’s progress, and were eventually able to rule out anti-NMDA receptor encephalitis and neuroblastoma as potential contributing causes.

Meanwhile, Amber was experiencing hallucinations and severe anxiety. “Because she’s mostly nonverbal, it was really hard to figure out what was going on with her,” Julie says. “It was horrible.”

Gradually, Amber did start to get better. But by February of this year, she still wasn’t quite back to her usual self, so her doctors decided to try a medication usually used to treat schizophrenia. “She has continued to get better,” Julie says. “We still don’t know whether it was because of [the medication] or if she would’ve gotten better on her own.”

It was through iDefine, an organization seeking better answers for families affected by Kleefstra syndrome, that Julie found AllStripes.

“It’s been great having access to her records and finding out what the physicians are thinking to coordinate her care, especially since we’ve had to go across multiple hospital systems. All we can rely on is those notes.”

Ultimately, this transparency helps Julie’s relationship with medical practitioners, allowing her to feel like she’s asking the questions that will get her daughter the help she needs.

AllStripes is jumpstarting our Kleefstra syndrome program in partnership with the iDefine Foundation to accelerate research for the condition. We welcome all patients and caregivers interested in participating and spreading the word to the Kleefstra syndrome community.

“We need to be able to contribute to the research for Kleefstra syndrome,” Julie says. “Amber is the only one that’s had regression with these very abnormal eye movements. She’s either the first in her age group or — because the disorder is so small and not researched enough — we just don’t know about others yet.”

## 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.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association.

### 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.