Update from Global Genes Summit - A brief chat with Jane Gunther (CureCADASIL Association)

In September, I made my first trip out to the West Coast for my first ever rare disease conference--the Global Genes Patient Advocacy Summit. This conference is the largest gathering of rare disease stakeholders in the world, and it’s an opportunity to meet new people, make connections, and learn from the experts.

Because RG is an organization with virtual volunteers, the Summit was also an occasion for several of us to meet each other for the first time. I was finally able to put a face to the voices I’ve heard on weekly conference calls and the names I’ve read on email threads! It was also great meeting some of RG’s partners at the conference, including Illumina, who sponsors our iHope program.

For me, the best part of the conference was meeting other patients and advocates and hearing their stories. From eating lunch with the founders of NEHI Research Foundation to speaking with representatives of other non-profits in between sessions, I was able to have many meaningful conversations with strangers, even if just for a few minutes.

One person I met at the conference was Jane Gunther. She has been to three Global Genes summits and attended again this year to participate in the Entrepreneur bootcamp, representing the drug of a UC Berkeley researcher and networking on behalf of the non-profit cureCADASIL.

Through Jane I learned about a new rare disease, CADASIL, which stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. In layman’s terms, CADASIL is a genetically inherited disease where just one defective NOTCH3 gene copy on chromosome 19 (from mom or dad) is enough to cause the small blood vessel walls within the white matter of the brain to thicken, making blood circulation more challenging. Eventually, the poor blood flow can lead to a total blockage that triggers a stroke. This results in brain lesions of dead tissue that are responsible for the subsequent cognitive deficits that ultimately lead to dementia.

CADASIL patients are at high risk for stroke and vascular cognitive impairment, which are the two main causes of morbidity and mortality. Though symptomatic onset typically occurs in adulthood, CADASIL is now recognized as an important cause of stroke in the young.

Jane brings a unique perspective to rare diseases and to CADASIL in particular. Her boyfriend of 12 years, Bruce, lives with CADASIL and Jane herself has been working in the biopharmaceutical industry developing drugs for the past 20 years.

“Bruce and I had started dating and one evening he decided to tell me that his father had died from a rare disease,” Jane said. “I remember that my blood literally felt cold. I was shocked, but my logical side kicked-in and rationalized that genetic diseases are inherited from both parents. No, CADASIL is autosomal dominant.”

Many years passed before Jane acknowledged the reality of this information.

“Bruce is an easy-going, athletic guy, no signs of disease,” Jane said. “This is common with CADASIL, for families to ignore they have the disease because the symptoms are adult onset and often gradual with TIAs, migraines, larger strokes, then physical disability and dementia. Because there are no disease-modifying therapeutics – why learn whether you are the family member that inherited the disease?”

Eventually, Bruce’s sister was diagnosed with CADASIL. This made it easier for Bruce and his doctor to recognize that his small symptoms were linked to CADASIL when the time came. However, when Bruce’s sister died from CADASIL, Jane started to question her career goals.

“I worked so hard in my professional job to cure other diseases but had done nothing to help Bruce and his family,” recalls Jane, who has spent much of her professional career dedicated to finding therapies for neurological diseases like multiple sclerosis and Alzheimer’s.

A former co-worker of Jane’s was very involved in finding a therapeutic for Spinal Muscle Atrophy (SMA). When she eventually left the pharmaceutical industry and devoted her career to finding cures for SMA, Jane was inspired to make a change as well. She wanted to find a way to volunteer in the CADASIL community.

The opportunity came in an unusual way--through her 85-year-old mother’s water aerobics class. A woman from Seattle was visiting Florida and joined the class, expressing her disappointment at how the ice bucket challenge was resulting in millions of dollars of donations to the ALS foundation, yet there were still so many other rare diseases, like CADASIL, that remain unfunded.

“When my mother learned that this woman had CADASIL, they started a conversation that resulted in me calling this woman,” Jane said. “I am very glad that she pointed me in the direction of the cureCADASIL Association.”

Since that phone call, Jane states that a number of other coincidences have led her to her current positions as a cureCADASIL Trustee and Research Committee leader.

“[My story] really supports that once you have a goal that you really believe in, get out there and get started doing something – anything!” Jane said. “The rest will start to fall in place.”

Although Jane is not personally researching CADASIL therapies in the lab, she continues to support it through her volunteer work.

“If I had to use just one word to describe what I do [for cureCADASIL], I would say ‘connections’ through my own network and my ability to identify potential scientific connections from having worked in research and development of therapeutics for so many years,” Jane said.

Thus far, cureCADASIL has successfully established an active patient registry and achieved ICD-10 designation for CADASIL. Jane continues to organize collaborations with other researchers who are developing drug therapies for CADASIL. She has also connected cureCADASIL with rare disease venture capital firms and start-ups. Currently, she is creating a CADASIL Connection Webinar series.

“There has been little connection between CADASIL patients, researchers, and clinicians, and I wanted to bridge this gap by creating the CADASIL Connection Webinar series,” Jane said. “Not only have the patients appreciated the 5 webinars we created, but working on each webinar with the researchers and clinicians strengthened our relationships with them into true partnerships.”

In order to identify and support the therapeutics that have the greatest potential to be successful in a CADASIL clinical trial, Jane created the cureCADASIL Development Team with members from cureCADASIL’s Scientific Advisory Board and former co-workers with experience across drug development.

“One insight I’ve learned is that one does not need to know the disease mechanism in order to treat the disease,” Jane said. “I have heard this in my professional work, but it was a green light to continue moving forward with all efforts to find a disease-modifying therapeutic for CADASIL, a disease whose mechanism is not yet fully understood.”

Fortunately, Bruce’s physical and mental health remain in good shape, but Jane notes she is there to remind him to stay hydrated and eat all meals. She is also helping him to plan for the future.

“I am getting Bruce’s finances in order because there will be a day when he will not be able to work,” Jane said. “The challenge is balancing planning to live with a disease that will take your normal life away but still enjoying living while you can.”

Bruce and Jane continue to enjoy a normal life while they can, attending plays and various performances, going on vacation, and doing outdoor activities together. If there is one thing she has learned, Jane says it’s that living with someone who has a rare disease has taught her to have better balance in her own life.

Just as Jane has been able to make many connections while attending conferences like the Global Genes Summit, I too have had the pleasure of making a connection with Jane. In my role as a patient advocate, I continue to learn more about different types of rare diseases, what is working currently, and what has yet to be done in this space. In the world of rare diseases, every connection counts, and I hope that my blog can help get you connected today!

Author Bio: Lauren Fang is a patient advocate associate for Rare Genomics. She graduated with a BS in biomedical engineering from Johns Hopkins University. Lauren is interested in global health, medical devices, and genomics research and is currently applying to medical school.