Archives July 2024

When Damian McNamara, a staff writer for WebMD, learned that his cousin had been diagnosed with ALS and FTD due to a C9orf72 genetic variant, he began to wonder if he should undergo genetic testing. After all, his maternal grandmother and aunt also had ALS, and FTD research discovered that C9orf72 can cause either disorder, or both.

McNamara spoke with his siblings about genetic testing but got no clear answer. “If we test positive, what could we do about it? Would it be better to know or not know?” he wrote in a 2023 article. An older brother and another cousin warned him against genetic testing, concerned that a positive result would make it more difficult to get life insurance, long-term care insurance, or long-term disability insurance.

Then McNamara learned his cousin with ALS and FTD had enrolled in ALLFTD, an observational study with sites in the United States and Canada that examines how FTD progresses over time. Since all genetic testing results would remain confidential, he decided to enroll himself. Fortunately, McNamara tested negative for the C9orf72 variant. In his article, he said he has remained in ALLFTD as a healthy control to give researchers the opportunity to compare his data against that of people who are diagnosed which helps them better understand where they may be able to intervene in the course of FTD.

The more people who, like McNamara, volunteer as research participants, the more data researchers can collect. And the more we learn about FTD, the sooner we will achieve earlier and more accurate diagnoses, viable treatments, and one day, a cure. This is where you come in.

Everyone Can Participate in Research Studies

Eligibility criteria for the many active FTD-related studies differ, but there are opportunities for everyone to participate, whether they are diagnosed with FTD, care for someone with FTD, or have FTD in their family. Studies may ask participants to complete surveys, have MRI scans, or test experimental treatments.

Many of the current studies are testing experimental treatments for participants with specific types of FTD — those caused by variants in the GRN or C9orf72 genes. The good news is that what we learn from these studies will help everyone, including those who do not have one of these FTD types.

Some people worry that participating in research may not be safe. But there are laws, rules, and regulations in place to protect research participants’ safety, privacy, and confidentiality. All research studies require informed consent, which gives each person the details of a study before deciding if participating is right for them.

Benefits of Participating

• You take an active role in your own care that could potentially improve your condition or quality of life.
• You gain access to interventions, specialists, or assessments that may not otherwise be available.
• You learn more about your disease through the results of any tests you may undergo as part of the research.
• You help future generations by increasing our understanding of how to diagnose, prevent, treat, or cure FTD.

Navigating the FTD journey is much less daunting when you have support from others who have lived with the disease themselves, Canadian care partner Mardi Denis said in an article published on the website of The Province, a Vancouver newspaper.

Denis, a retired occupational health nurse, said that she was confused and concerned when her husband, Larry, began to change.

Her husband had always been a lovable curmudgeon, she said, but he was also intelligent and witty. As he reached his 80s, though, Denis noticed changes in his behavior. She initially suspected they were simply age-related, but as he worsened, she began to wonder if something more was wrong. Larry developed paranoia, and as his agitation grew, he sometimes lashed out at Denis.

Later, in a fit of rage, Larry tried to crash his car. A police officer found him on the road and recognized something was wrong. So, rather than confronting him, she offered him a hug. “He softened in her arms and broke down in tears,” Denis told The Province. Larry was taken to the hospital due to the encounter, and he was diagnosed with FTD.

Today, Denis says she understands Larry’s anger and frustration. Larry was experiencing anosognosia, the inability to recognize or perceive one’s illness or its effects on them, a distinctive feature of FTD. “It’s very scary for people to realize they aren’t the same as they used to be,” Denis says.

Like many families affected by FTD, the couple had to largely navigate their new reality alone. It was challenging for them to find information about what to expect from FTD and how to manage it.

Denis eventually began attending a monthly support group near her home in British Columbia. Although she found it difficult to admit she needed help, she discovered that having a place to vent, exchange insights, and feel understood is key.

The group has given Denis the strength to help Larry better and to advocate for and help others. Larry now lives at an independent living facility, and Denis speaks with him three times daily, bakes for him, and visits as often as possible.

“After 60 years,” she says, “you can’t stop loving and caring for a person, no matter how much they’ve changed.”

FTD is a complex disease with emotional and practical challenges that can be as isolating as they are overwhelming—finding a support group can provide you with a safe space to share your thoughts with others who understand and trade resources for the journey ahead. AFTD’s HelpLine can answer any questions you have about FTD and support you; contact the HelpLine at 1-866-507-7222 or [email protected].

An opinion column published in the Los Angeles Daily News highlights healthcare-based racial disparities that often leave the Latino and Black/African American communities without proper dementia care. Author Patricia A. González-Portillo shares her family’s experiences with her father’s dementia to illustrate the gap in dementia care.

González-Portillo’s father experienced symptoms for more than 20 years, living with attention difficulties, impairments to his problem-solving, and hallucinations. Yet, despite receiving quality medical care for his diabetes and congestive heart failure, González-Portillo’s father never received treatment for his dementia symptoms.

The lived experiences of González-Portillo and many others highlight the impact these disparities have on people living with FTD. Like González-Portillo, advocate and care partner Aisha Adkins, MPA, CNP, emphasized in a 2021 Washington Post article how the gap in dementia care created significant obstacles to diagnosis for her mother, a Black woman, which required Adkins to advocate on her behalf for the answers they needed.

While getting a dementia diagnosis is difficult, especially for lesser-known diseases like FTD, González-Portillo and Adkins’ experiences underscore the steeper challenges faced by diverse groups compared to whites.  According to a research review cited by González-Portillo, there are considerable disparities in access to diagnosis and dementia care. Among other findings, the report highlighted that:

• People from diverse groups received less optimal care than whites and experienced additional delays in diagnosis. In one study, it took Black/African Americans 11% longer and Latinos 40% longer to receive a diagnosis.
• Diverse groups had a lower rate of prescription for anti-dementia medications.
• Black/African Americans and Latinos were less likely to be referred for neuropsychological testing.

One of the ways disparities in dementia care can be addressed would be to include greater racial and ethnic representation when designing FTD research, suggests a 2023 research paper. Other ways they propose for eliminating disparities include developing diagnostic and monitoring tools customized for different ethnic and social groups, creating culturally tailored public awareness campaigns, and providing increased education for health care professionals.

For González-Portillo, the gap in dementia care left her family without answers about what was happening to her father, and it put an intense strain on her family. “Without knowing that her husband of 62 years lacked the cognitive capacity to understand his behavior,” wrote Gonzalez-Portillo, “Mom would say, ‘Dad has no sympathy for how I feel … his words hurt me.’ I often wonder how different Dad’s last years would have been had we known he had dementia. I have no doubt we would have better known how to handle that cruel monster that robbed Papi’s mind.”

Are you concerned about getting proper FTD care or a diagnosis? AFTD’s HelpLine is here to answer your FTD questions and support you on your journey; contact the HelpLine at 1-866-507-7222 or [email protected].

Since the AFTD Ambassador Program began in 2019, our initial cohort of volunteer leaders has grown into an enthusiastic and highly motivated group working toward a future free from FTD.

AFTD is pleased to welcome two new members to the group, bringing the program to a total of 20 Ambassadors.

Zoy Kocian | Texas

Shirley Gordon | New Hampshire

Shirley has been active with AFTD since 2008, when her beloved husband Mike was diagnosed with FTD. Her volunteer activities include representing AFTD at local events, hosting Food for Thought fundraisers, taking part in speaking engagements, and facilitating support groups. Shirley has also done legislative work for caregivers and is a Certified Dementia Practitioner and Caregiver Coach. In 2023, AFTD nominated Shirley for a seat on the Advisory Council on Alzheimer’s Research, Care, and Services, which was established by the federal National Alzheimer’s Project Act. Since Mike’s passing in June 2020, Shirley has dedicated herself to educating and supporting folks affected by FTD, Alzheimer’s disease, and other dementias. She is honored to represent AFTD as an Ambassador for New Hampshire, and passionately hopes that someday we will find the cure for FTD.

What is an AFTD Ambassador?

Ambassadors are volunteer leaders who represent AFTD in communities across the United States, raising awareness of FTD through networking, outreach, speaking engagements, advocacy work, and attending events on behalf of AFTD. Ambassadors also connect people affected by FTD or those working on their behalf with AFTD’s resources, information, and opportunities to get involved.

Folks interested in becoming Ambassadors are asked first to collaborate with AFTD in leading a few community awareness activities. If that goes well, Ambassadors make a two-year commitment to this volunteer leadership position, and receive the training, materials, and support they need to be effective representatives in their community. Ambassadors meet monthly with each other and AFTD leadership to discuss their work.

If you are interested in becoming an AFTD Ambassador in your state or region, please reach out to us at [email protected]!

AFTD and ALLFTD have partnered to create a brief animated video that explains the brain donation process, as well as how it helps FTD researchers and families affected by FTD.

Discussing brain donation can be difficult for families, so beginning the conversation early can provide family members with the time to consider options, share preferences, and make decisions.

Families who take part in donation programs receive a definitive diagnosis through brain autopsy, which is performed to confirm the biological causes of a person’s FTD. The results can sometimes shed light on aspects of a person’s FTD that were not previously detectable, and they may even reveal causes that were different than initially expected.

When brain samples are analyzed by the brain bank, the data from the analysis is made available to scientists through a database, which allows them to identify and procure the samples that best align with their research needs. These donated samples allow scientists to study the underlying mechanisms of different types of FTD, paving the way for new diagnostic tools and treatments.

We encourage you to share this video with friends and relatives, so you can start the conversation with a mutual understanding of the benefits of brain donation and what donation entails. If you have any questions about brain donation, contact AFTD’s HelpLine at 1-866-507-7222 or [email protected].

Additional Brain Donation Resources

Researchers at the University of Bath in the United Kingdom and the University Medical Center Utrecht in the Netherlands have uncovered an association between an inherited genetic variant of the angiogenin (ANG) gene and ALS-FTD, according to a study published in The Journal of Pathology.

It is now recognized that a pathogenic expansion of the C9orf72 gene is the most common cause of hereditary FTD, ALS, and ALS-FTD. Over time, this understanding has evolved, and variants in several other genes have been implicated as risk factors of ALS-FTD, including ANG variants.

Normally, the ANG gene regulates proteins that help the body create new blood vessels from pre-existing ones, a process known as angiogenesis. A previous study of ANG by the authors showed that it also plays a role in protecting nerve cells from damage due in part to its ability to induce a stress response. They noted that other researchers had uncovered ANG’s role in regulating the development of stem cells into specialized cells during growth in mice and zebrafish.

The authors wanted to determine if ANG played a similar role in humans. They examined ANG’s role by growing “mini-brains” from samples contributed by a family with a history of ALS-FTD. Using genetic testing results to identify who was affected, the researchers obtained samples from two family members with a pathogenic ANG variant, and one control sample from a family member who did not. The samples were used to trigger the process of nerve cell development (called “neurogenesis”), where stem cells become specialized neurons. By analyzing the neurogenesis process through the mini-brains’ growth, the scientists could identify how the ANG variant affected the development of neurons.

The authors noticed that the stem cells affected by the ANG variant were delayed in transforming into nerve cells, which led to developmental defects when they finally became neurons. They noted physical abnormalities in neurons affected by the ANG variant, such as specific structures being disorganized in size and shape. Additionally, the altered neurons were more sensitive to wear and tear and eventual cell death due to an impaired stress response.

“This suggests nerve-cell degeneration may be primed by defects occurring during early development,” author Dr. Vasanta Subramanian told Neuroscience News. “This new discovery adds to our understanding of angiogenin and its importance in protecting us from diseases associated with aging.”

While the study sheds light on the relationship between ALS-FTD and the ANG gene, the authors note that more work is needed to detail how they contribute to the onset of the disease. Further work is also required to determine how ANG interacts with other proteins associated with ALS-FTD.

There are many different genes that can cause FTD, and while genetic testing can show if you have an FTD-linked gene, AFTD strongly recommends genetic counseling as a first step to consider if testing is the right choice for you.

Are you interested in participating in research for FTD? Join the FTD Disorders Registry, a powerful tool in the movement to create therapies for FTD that can help you keep up to date on the latest research opportunities while providing your lived experience to guide the work of researchers.

Most people diagnosed with FTD have a sporadic form of the disorder, meaning there is no apparent familial history of neurodegenerative disease. However, at least 20% of people diagnosed have a genetic cause for their FTD, and in many cases, the FTD-causing genetic variant can be passed along to future generations.

Genetic FTD poses unique challenges. Family members caring for loved ones who have been diagnosed see firsthand how FTD may impact their own future, or that of a sibling or child. Additionally, some families with genetic FTD find themselves with multiple family members experiencing FTD symptoms at the same time.

Clinical trials for potential FTD treatments are making progress, and because many of those trials focus specifically on genetic FTD, more people are considering predictive genetic testing; knowing your genetic status is increasingly a prerequisite to participating in leading-edge FTD research. People not currently experiencing FTD symptoms can gain insight into their own risk of developing FTD through predictive testing. But while confirming your genetic risk may alleviate the anxiety of not knowing, it is also information that cannot be unlearned. The decision to have predictive testing is highly personal. Before testing, AFTD recommends consulting a genetic counselor who can help you decide if knowing your future risk is the right decision for you at this point in your life.

Regardless of the decision to test now or defer, the presence of FTD in one’s family presents additional concerns – which, if allowed to fester, can increase the isolation brought on by FTD. Having access to a community of people who understand your situation can be a lifeline.

For people impacted by either genetic or sporadic FTD, AFTD’s support groups offer the opportunity to connect with others who know what FTD is and how it affects families. Support groups let you talk with people who are going through similar experiences and make invaluable connections. You can cry, vent, and laugh with no judgment. Groups are safe spaces where you can be yourself and talk as much or as little as you need. You can hear from others about their experiences and learn about how they approached circumstances similar to yours.

AFTD offers numerous types of support groups, and we recently introduced two different groups specifically for those facing genetic FTD.

Our Persons at Genetic Risk Peer Support Group is for people without symptoms who have undergone predictive testing and understand that they have a confirmed genetic risk to develop FTD. Members talk about how they grapple with important life decisions and cope with the knowledge of their genetic status.

The Familial FTD Peer Support Group is for asymptomatic people who know that FTD in their family is caused by a specific gene, but for various reasons have yet to undergo genetic testing themselves, or perhaps they are weighing the option of undergoing predictive genetic testing. This group is also for those who have been tested, but have chosen to not know their results.

For more information about AFTD’s support groups, please contact the HelpLine at 1-866-507-7222 or [email protected]

AFTD Ambassador Nanci Anderson will provide an overview of FTD, along with available resources available in the Twin Cities and from AFTD.

The event will take place on July 17, 2024, from 10:30 a.m. – 11:30 a.m. CT. It will be located at the Plymouth Community Center’s Education Wing (Classroom 1C), at 14800 34th Avenue N. in Plymouth, Minn.

Download this flyer to learn more.

This past May, AFTD staff and other FTD advocates traveled to New York and California to celebrate the successful passing of their respective resolutions that commemorate September 22-29 as FTD Awareness Week. Now, we need your help to support FTD Awareness Week in every state!

What Is the Difference between a Proclamation and Resolution?

What Can I Do?

Why Is This Important?

Advocacy Toolkits