Did You Know

04/17/2026

04/13/2026

Love looking back and remembering past this is 8years ago

Thank you for supporting research so many great events. What an amazing effort by so many! SUBSCRIBE to our Channel and share if you agree!

04/11/2026

The extreme hike for was the most rewarding experience I have had

04/11/2026

Extreme hiking for was most rewarding thing I have ever done.

03/12/2026

Breaking news - Senator Ron Johnson has "launched an investigation into the Food and Drug Administration's recent denials of treatments for rare diseases."

Sen. Johnson, a champion of early access to treatments for those with serious and life-threatening conditions and author of the Right to Try legislation, again shared his commitment to families during the February 26th Senate Aging Committee Hearing, where Dr. Cara O'Neill, Cure Sanfilippo Foundation's CSO, testified on behalf of patients.

We thank Sen. Johnson and the growing number of Congressional leaders who are increasingly focused on FDA accountability in conducting drug reviews in accordance with congressionally authorized regulatory flexibility.

We want to acknowledge all the Sanfilippo families who courageously shared their stories through the Senate Aging Committee Hearing. We also thank families who have shared the personal impact of delays on their children, particularly since the gene therapy UX111 was initially denied approval in July 2025. This tide of attention to the great unmet need of our children and resulting changes have been supported by months of advocacy from our Sanfilippo community, our MPS advocacy partners, and numerous other rare disease advocacy groups.

There is still much that lies ahead and we will continue to bring the needs of our children forward while working on all fronts with those who can bring about safe and urgently needed treatments.

https://www.newsweek.com/republican-launches-investigation-into-trump-admin-fda-denials-11649790

03/08/2026

SCA is relentlessly progressive. There is currently no FDA-approved therapy and no cure for any subtype. Most patients experience a steady decline over 10–25 years, with significantly reduced life expectancy depending on the subtype. SCA Type 3 (SCA3), the most common form worldwide, is typically fatal, with patients often dying in their 50s or 60s from complications such as aspiration pneumonia.

02/27/2026

Dr. Jeremy Schmahmann from Massachusetts General Hospital Ataxia Center delivered a heartfelt speech to the physician and patient community. Biohaven has been exceptional in supporting the ataxia community, and the overwhelming support from patients both in the room and via email since yesterday has been remarkable.

How?
Statements from patients, caregivers, and clinicians can be submitted on a Word document and sent directly to the Senate Aging Committee at rarediseasestatements@aging.senate.gov. Additionally, Dr. Schmahmann would like to hear from you directly to bring your voice to the meeting. Statements and comments can be sent to scaaccess@biohavenpharma.com.

Biohaven

02/25/2026

There are no current FDA approved treatments available for SCA patients. Recently, the FDA has rejected and significantly delayed an unprecedented number of New Drug Applications (NDAs) for rare diseases. Among these rejections was the troriluzole NDA for the treatment of SCA. Congress has mandated regulatory flexibility for rare and life- threatening disorders, particularly where there are no treatment options available. Yet this current lack of flexibility we are seeing from the review teams at the FDA has led to a highly challenging environment for patients who have been waiting decades for treatment options.

But there is hope. There is an upcoming Senate Hearing that will focus on these issues. The rare disease community desperately needs safe and effective drugs, especially for rare disorders where there are no treatment options. Unnecessary delays in the review and approval of these therapies have a profound impact on patients suffering from a rare disease and could impact patients ability to access current investigational drug therapies and participate in research in the future.

When?

The meeting is being called by the Senate Committee on Aging and will be held on February 26, 2026 at 9:30am. It’s imperative that we get our patient voice to the members of the Committee. Dr. Jeremy Schmahmann from Massachusetts General Hospital Ataxia Center will be testifying for the physician and patient community.

Why?

Your voice matters. Patients and caregivers can play a meaningful role by sharing their experiences with elected officials. This hearing will address issues related to:

• FDA approval timelines for therapies targeting rare and neurodegenerative diseases
• Patient access to investigational drugs when no approved treatments exist
• The role of expanded access and regulatory flexibility for serious and life-threatening conditions

How?

Statements from Patients, Caregivers and Clinicians can be submitted on a Word Document and sent to the Senate Aging Committee directly at rarediseasestatements@aging.senate.gov. In addition, Dr. Schmahmann would like to hear from you directly to bring your voice to the meeting. Statements and comments can be sent to scaaccess@biohavenpharma.com

01/04/2026

 Dana has taken on an incredible challenge: a 22-mile hike through the breathtaking Grand Canyon to raise awareness and crucial funds for ataxia research. Join me as I chat with Joe and Seth, my two inspiring friends affected by ataxia.

Dana shares a profound hiking experience in the Grand Canyon, describing it as both magical and challenging. Starting at 4 AM, they were mesmerized by the st...

01/04/2026

Grand Canyon Extreme Hike for Ataxia

11/27/2025

Beyond the Rim: My Unforgettable Grand Canyon Adventure South Rim
.blog

Dana recounts a profound hiking experience in the Grand Canyon, describing it as both magical and challenging. Starting at 4 AM, they were captivated by the ...