After Her Daughter Jessica Was Diagnosed With NF2, Lisa Knew Knowledge Would Be Power

By

Catherine Cooke

Oct 13, 2020 • 3 min read

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

A common thread in the rare disease community is refusing to take no for an answer. Lisa, mother to Jessica, “knew in [her] heart that there was something more sinister going on, when doctors underplayed her daughter’s symptoms.

It began when Jessica developed a paralysis of her 3rd cranial nerve causing a droopy eye. From there, she developed migraines that turned into seizures at the young age of 7 years old. Their journey became what is typical of those seeking a rare disease diagnosis: “It was a process of elimination. One by one we kept ticking things off the list.”

After doing her own exhaustive research, Lisa and her husband suggested that it may be neurofibromatosis 2 (NF2), but “but the doctor said she didn’t show those symptoms. So we pushed for answers.”

They were eventually granted funding for expensive genetic whole exome sequencing, and their suspicions were confirmed: Jessica was diagnosed with NF2.

NF2 is “a genetic disorder that causes benign tumors to grow on nerves particularly affecting the brain and spine. It’s debilitating. One by one, these tumors destroy a person’s abilities and senses. They lose their functions to the point that they become debilitated. They can become deaf, blind, immobile. Eventually, in severe cases it can lead to death.”

With the diagnosis, everything changed overnight. Doctors ran more scans and discovered that her body was riddled with tumors. “They never found the tumors before because they were looking in the wrong place. It was shocking that she had so much wrong with her,” Lisa remembers.

“It was like a double edged sword,” Lisa reflects. “It was heartbreaking but empowering because we could now fight. I knew I would always be her biggest advocate. No one will fight as hard for your child as their parents.”

In the journey to find a treatment and cure for her daughter, Lisa has been searching for others who share her same motivation. That’s when she found AllStripes, a company that is on the forefront of fueling better, faster research for rare diseases. As an AllStripes user, you can store all your medical information in a centralized place that can also be anonymously accessed by rare disease researchers.

“I knew power would be knowledge,” Lisa explains about why she uses AllStripes. “As soon as I had the genetic results, I wanted to get it out to anyone who was willing to listen. I wanted a platform that would help share the information to help accelerate the research, which will help find a cure.”

She believes AllStripes helps address a big problem with the current rare disease research model: “Clinicians tend to not share information with one another. It’s hard for researchers to do what they need to do. It’s really up to patients, families, and advocates to provide this information so that doctors can help us.”

Despite all of the difficulties she faced living with a rare disease, Jessica, now 11 years old, is still “one of the happiest children you will ever meet. She is so energetic and has so much love for life. She’s the most caring nurturing person you will ever meet. She has this capacity to love so much.”

Lisa is afraid of what will happen during Jessica’s teenage years, as hormones can exacerbate NF2 tumor growth, but for now she is focused on telling herself “ to stay strong. Accept the things I cannot change. Have the courage to fight for the things I can change and to never give up.”

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.