Dr. Aditi Kantipuly

I am excited to share the unfolding developments of the past few months, showcasing a remarkable collaboration within the Cerebral Cavernomas Malformations (CCM) community. It has been an honor to work alongside hospital administrators, dedicated physicians, Senator Lujan’s office, and patient advocates.

As a follow-up to my previous post, I am delighted to announce the release of "Biscochito," a children’s book dedicated exclusively to raising awareness of Cerebral Cavernomas Malformations (CCM). Named after the official state cookie of New Mexico, Biscochito narrates the story of a grandmother living with CCM, who imparts her experiences to her grandson—all through a baking adventure. This book is a testament to community collaboration, as the narrative was developed in tandem with children and adults affected by CCM. From character sketches to finalizing the text, "Biscochito" is truly a community driven initiative. Our most recent interview can be found here, with a local affiliate of National Public Radio.

Reflecting on the journey, I want to acknowledge the roots of the CCM movement in New Mexico, which began 18 years ago with the vision and determination of two individuals: Joyce Gonzelz, a CCM native to New Mexico, and Connie Lee, founder of the Alliance to Cure CCM. The steadfast dedication of patient advocates paved the way for a historic milestone earlier this year—the passage of the first-ever appropriation by the United States Congress to ensure better diagnosis of CCM—highlighting a monumental shift toward prioritizing the understanding and treatment of this rare genetic condition on a national scale.

This achievement serves as a poignant reminder that the power to enact change lies within our constituency and the people, showcasing the impact of collective advocacy. The African proverb comes to mind: “If you want to go fast, go alone. If you want to go far, go together."

The challenges posed by CCM and other rare conditions including the heterogeneity of clinical presentation, which are at the forefront of our considerations. We find ourselves at a critical juncture where rare diseases are gaining recognition as a public health priority. As such, it is imperative that we present concrete data and statistics to support this acknowledgment. In turn this data will enable policymakers to make informed decisions based on evidence based data, developing targeted policies and allocating resources effectively.

At the core of this initiative is the establishment of a registry entirely dedicated to CCM in collaboration with the Department of Neurology at the University of New Mexico, headed by Dr. Michel T. Torbey.

In the realm of rare genetic conditions, where data is often limited, a registry provides a critical resource for researchers to gain a comprehensive understanding of the disease's nuances, progression, symptoms, and response to various treatments. Moreover, a registry plays a crucial role in enhancing the diagnosis of rare diseases. By providing healthcare professionals with access to clinical data, genetic profiles, and diagnostic information, registries empower healthcare providers to make more informed decisions. Patterns and commonalities can be discerned, leading to earlier and more accurate diagnoses, significantly impacting patient
outcomes and quality of life.

These endeavors mark a significant step forward, and I am encouraged by the collective effort that has brought us to this point. Together, we are making strides toward a future where rare conditions are better understood, diagnosed, and managed: ultimately improving the lives of those affected.

All my best,

Dr. Aditi Kantipuly