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.”