Cavernous malformation and the Breaking Barriers Initiative
Cerebral cavernous angioma, also known as cerebral cavernous malformation (CCM), or cavernoma, are made of abnormal blood vessels. CCMs resemble mulberries and have very thin walls compared with other blood vessels, allowing blood to leak into the surrounding tissue. They are not cancerous and are found mainly in the brain and spinal cord. The most common first symptom is seizure (50%), followed by hemorrhage (25%) and neurological deficits (25%) like blurred vision and weakness in limbs. We believe about one in every 500 people have a cavernous angioma, but most people never have symptoms. Although the illness is rare, you are likely familiar with olympic track star Florence Griffith Joyner, who passed away due to a seizure caused by a cavernous angioma.
Cavernous angioma (cavernoma) is hereditary in about 20% of people who have the illness. The hereditary form of the illness can be caused by a mutation on any one of three genes:CCM1, CCM2, and CCM3. Those with the hereditary form of the illness will have more than one cavernous angioma (cavernoma) and will develop more lesions over time. The hereditary form of the illness does not skip generations. Each child of an affected person has a 50/50 chance of inheriting the illness. The hereditary form of the illness can happen in any family. However, several groups of people are at higher risk or the hereditary form: descendants of the original Hispanic population of New Mexico where the mutation began in the mid-1600’s, the Ashkenazi Jewish population, and a European-American group with roots in the deep South.
According to the National Institutes of Health, 7,000 rare diseases affect 10% of Americans, with 4.3 million of those affected being Black. Based upon epidemiology and diagnostic rates of other races, there should be about 20,000 Black Americans affected by CCM and symptomatic. However, across the largest national CCM databases, there are fewer than 100 Black patients. While CCM is no more common among Black Americans than other Americans, the missing patients represent a critical disparity in terms of diagnosis, care, and research
One reason for the disparity may be that obtaining a rare disease diagnosis can be very difficult, and late disease detection can lead to more debilitating symptoms. In one of the largest clinical databases, Black Americans were more likely to have spinal cord lesions. Spine lesions can result in noticeable, disabling symptoms that are harder to ignore or misinterpret. Symptoms from brain CCMs such as temporal lobe epilepsy, chronic headache, dizziness, weakness can mimic drug intoxication or psychiatric symptoms. Breaking stereotypes to get to diagnosis and care is critical.
Unfortunately, historically, Black patients have missed out on critical lifestyle interventions that could potentially save their lives. CCM care has reached a crucial moment in which we now are aware of lifestyle interventions that can alter the course of the illness. Dietary changes, including infant formula choices, Vitamin D supplementation, and treatment of sleep apnea, can reduce lesion hemorrhage and resulting disability. Access to genetic testing can improve lives for generations to come. Finally, medicines are in clinical trials, and we expect there will soon be approved treatments. Black patients who present with questionable neurological symptoms must receive a thorough evaluation. Those diagnosed with CCM must be connected with appropriate care, support, and research participation opportunities.
Recognising these barriers to detection has led Angioma Alliance to create the Breaking Barriers Initiative for Black Cavernous Angioma patients. Angioma Alliance has had a very successful Hispanic outreach programme addressing a population with a founder mutation in the Southwest. Given the proper resources, we know how to create programs that reach underserved populations. The initiative hopes to become a blueprint for other rare diseases to decrease disparities amongst Black patients.
Listening to our Black CCM patients is a cornerstone of the Breaking Barriers initiative. Conducting interviews has allowed us to identify the perceived gaps in care and support. We strive to connect patients to quality CCM care, including connecting patients to our CCM Centers of Excellence and second opinions or to access to free genetic testing. Increase self-advocacy through the provision of information and development of culturally appreciate materials. Building community partnerships to find and engage diagnosed Black CCM patients, mainly conveying disease mitigation information, training in self-advocacy, and fostering community and conversation. Our ultimate goals are to develop a thriving, active community of engaged Black patients and families and improve care at institutions that are most likely to see our patients. Additionally, we would like to decrease under-representation in clinical databases and research participation and spread this information so that the 4.3 million Black Americans with rare diseases can be better served.
Tymiak Hawkins is a Black CCM support group member and has become a source of inspiration and an example of perseverance to other members. Tymiak shares openly about the obstacles he has faced in his recovery and on his path to becoming a published author.
An excerpt from one of Tymiak’s support group posts:
“When you run the marathon, you run against the distance, not against the other runners and not against the time. This stroke recovery has been nothing short of a marathon for the past two years. The race is me versus my mind as I am not racing against anyone, not even time. I’m just enjoying all the race is throwing at me. The highs and lows. I have to embrace it all. The lesson I’m learning at this point of the race is that I have to pace myself. I was a sprinter, so I always want to empty the tank and give 200% but I am learning to work smarter and not harder. No matter what is happening around me I work at my pace; that will get me through the race. I was told by a wise man that you “gotta turn it off or risk losing everything you’re hustling for.” So now I am learning the art of rest, turning it off, and being present. Enjoying the process is the gift and curse of liking what you do. It’s not work so you don’t get tired. Fall in love with the process but don’t forget to allow yourself time to rest and recover.”
My name is Tymiak Hawkins and on June 5, 2019, I was diagnosed with a cavernous malformation which was discovered after having a hemorrhagic brainstem stroke. In the early hours of that day a God-like figure came to me in a dream and said, “It’s time to go.” I had been experiencing issues with headaches, balance, coordination, and vision, and I knew that the figure was urging me to go to the hospital. I faced a grim diagnosis based on statistics; I was given only a 26% chance of survival and a 10% chance at a full recovery.
I was blindsided by this—I had felt that I was in good health. I was an athlete and was only four years removed from my college basketball career at Fairleigh Dickinson University-College at Florham. I went from playing basketball to having to relearn to walk and run. Despite the odds being stacked against me I was able to make a miraculous recovery. I am very thankful for my dream that prompted me to go to the hospital, and thankful for all the support and love I received on my journey.
I tackled my therapies head-on, but I knew my work was not done. I felt compelled to write a book to share my story and serve as a guide for others who have had similar experiences with stroke and other brain conditions. It is my hope that my book teaches its readers about the early signs of stroke, what to expect during the recovery process, and how stroke patients and their caregivers can help each other through this life-changing event.
I am native of Philadelphia, but now I reside in Hillsborough, NJ with my wife, Rachel. I received my B.A. in communications from Fairleigh Dickinson University in 2015, but since my diagnosis, in addition to my book, I co-founded 2 The T, a brand I created with my brother Tya’ron, who also was diagnosed with a cavernous malformation. Our aim is to spread awareness about brain health. I am also the COO of Your Finances Simplified, a financial literacy and credit repair company.
To learn more about the Breaking Barriers Initiative visit us at: https://www.blackccm.org/
To learn more about Angioma Alliance and their race to a cure, visit: https://www.angioma.org/