Understanding rare, chronic, or uncommon conditions can be difficult. This is especially true when there is a general lack of education and awareness. Dr. Aditi Kantipuly decided to make a change by beginning to educate children on rare conditions through children’s books. According to Megan Myscofski of KUNM, Dr. Kantipuly wrote “Biscochito” to raise awareness of a genetic disease that disproportionately affects New Mexican individuals: cerebral cavernomas, also known as cerebral cavernous malformations (CCM) or cerebral cavernous hemangiomas.

Dr. Kantipuly, a visiting scholar at the University of New Mexico, co-wrote the book with people who have cerebral cavernous malformations, such as Esperanza Martinez, who was diagnosed with cerebral cavernous malformations in 2022. Family members of people with CCM also contributed insights to the book.

“Biscochito” follows the story of a grandmother who was diagnosed with CCM. Together with her grandson, she makes biscochitos, known as New Mexico’s official state cookie. If you’d like to bake biscochitos while you follow along with the story, you can find a great recipe here.

This book, and Dr. Kantipuly’s drive for change, is creating waves in New Mexico. “Biscochito” is being shared with families and schools across the state to increase CCM awareness on a state level. Even more importantly, Dr. Kantipuly and the University of New Mexico’s Department of Neurology are working to develop a statewide CCM registry which would educate physicians about this condition, as well as advance research into cerebral cavernous malformations.

What You Should Know About Cerebral Cavernous Malformations (CCM)

The National Institute of Neurological Disorders and Stroke (NINDS) at the NIH describes cerebral cavernous malformations as:

abnormal clusters of closely packed, thin-walled blood vessels known as capillaries that form lesions that move tissues in the brain or spinal cord from their normal place and can alter blood flow. The lesions contain slow-moving or clotted blood [and those] in the brain and spinal cord are particularly fragile and likely to bleed.

CCM can be found in the brain, spinal cord, or other areas of the body. Having a CCM is rare. It may occur spontaneously or as the result of CCM1, CCM2, or CCM3 gene mutations. Symptoms of a cerebral cavernous malformation may include:

• Severe headaches
• Arm or leg weakness
• Back pain
• Numbness
• Difficulty speaking
• Problems with memory or attention
• Changes in hearing or vision
• Hemorrhagic stroke (bleeding in the brain)
• Problems with balance and coordination
• Seizures
• Paralysis

In some cases, people with CCM have no symptoms; their CCM remains untreated. However, in some cases, CCM requires surgical intervention and symptom control using medication. Cerebral cavernous malformations can be fatal, especially when associated with severe brain bleeding.