Jessie’s Son’s CCM3 Diagnosis Unlocked a Family Medical Mystery

By

Taylor Kane

Mar 26, 2021 • 3 min read

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

Flashback to 1987, when Jessie’s husband was just 9 years old. After experiencing a random seizure, an MRI showed he had a non-cancerous brain tumor. The doctors weren’t sure what caused the tumor, and the family didn’t question it.

Years later, Jessie encouraged him to get an MRI to get to the bottom of this so-called tumor, but the doctor didn’t think an MRI was necessary since her husband hadn’t experienced another seizure and wasn’t showing any strange symptoms.

The pieces finally started coming together when their second child, Matty, was 13 months old and he stopped communicating completely: “He stopped talking, pointing, waving.” After bloodwork came back normal, a neurologist ordered Matty an MRI, largely based on Jesse’s husband’s health history. Jessie says the MRI showed Matty had “a few cavernous malformations.”

Jessie had never heard of cavernous malformations before, and was quite concerned, but none of the doctors she spoke to seemed to share her feelings. After confirming that her son did not have brain cancer, Jessie felt relieved: “Little did I know the road we were about to travel on.”

One night, Matty was vomiting, which Jessie assumed was a stomach bug. Soon after, Matty was no longer able to walk. Again, Jessie explains, doctors did not seem very concerned. Jessie “pushed and pushed” for another MRI, which showed that Matty had a brain bleed in his cerebellum caused by his cavernous malformations. Frustrated, Jessie took things into her own hands. She got connected with the Angioma Alliance, a patient organization dedicated to supporting people impacted by cavernous malformations (also known as “cavernous angiomas”) and pushing for further research and treatment options. Through the Angioma Alliance, Matty got genetic testing and was found to have CCM3, an extremely rare and severe syndrome.

After Matty’s diagnosis, Jessie’s husband and two other children went through genetic testing. It was no surprise to Jessie to learn that her husband also has CCM3, but when her two other children’s results came back positive she was shocked. She had never noticed any symptoms in these two children.

“In this very rare disease, we have probably 2% of the population in our house,” Jessie says.

The family’s life has changed a lot since their diagnoses in 2015 and 2016, but they have gotten into a routine: MRIs every six months, and all three kids get theirs done in the same day. Jessie says many of their days are taken up by visiting doctors and specialists, which eats into their time as a family. Otherwise, Jessie says her children live relatively normal lives.

“I can see my two older ones jumping on the trampoline outside,” she says during our interview.

Today, Matty still has some trouble communicating. “It will take him a while to come up with the words for things, and people will get impatient with him,” Jessie says. She wishes people would be more patient with people whose difficulties are not visible on the surface.

Jessie says her and her husband’s main coping mechanisms are humor and therapy. Jessie calls therapy an important component in their self-care, especially for her husband, who experiences feelings of guilt for unknowingly passing CCM3 down to their three children.

When they joined the AllStripes research program for CCM3, AllStripes was able to retrieve Jessie’s husband’s medical records from the 1980s. Jessie says they would have cost her $2 per page to retrieve on her own, but AllStripes provides records to patients and families in the research programs at no cost. Jessie signed her children up for the AllStripes CCM3 research program, too, so she can organize their medical records in one place and contribute to research to advance treatments.

“Right now, the only treatment is surgery. Brain surgery is not a good treatment for something,” Jessie explains, “All research is so important. We’re getting closer to an actual treatment.”

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.

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

Together, we can make a difference.

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.