Nathan’s Story: VCP Disease and the need for a Rare Disease Advisory Council in Georgia

Since I was a freshman at Georgia Tech, I have had a clock ticking in my head.  Since my mother presented symptoms of the VCP gene mutation, I had grown up knowing that a rare disease existed in my family and that there was a 50% chance that I might get it as an adult in my 30’s to 40’s. My mother and aunt are both deceased from the disease, and I have two uncles (four out of six siblings) that possess the VCP gene mutation that was passed down from their mother.  Symptoms include muscle wasting, Paget’s disease of bone, frontotemporal dementia, ALS and Parkinson’s.  A patient can get any combination of symptoms and the disease is fatal.  For ten years, my mother could not walk, feed herself, bathe herself or go to the bathroom by herself and my dad was her primary care partner.  I know what my future holds, and my advocacy work is for my three boys.

I jumped at every career opportunity to advance as quickly as possible.  Some might even say I was reckless.  I quit a six-figure job and moved my wife and two sons at the time to Boston to attend grad school at MIT as I knew I might not get another shot.  My oldest son lived in six states by the time he was nine and I did everything I could do to advance professionally in the event that I was “lucky” enough to have the gene mutation.

In my late 30’s, after feeling weakness in my muscles and receiving my positive gene mutation diagnosis from a researcher in California, I visited the Emory neuromuscular center to request a nuclear bone scan.  There are no treatments for my disease except for Paget’s disease of bone, if detected early enough.  During that first appointment, the doctor looked at me and said that he had never heard of my disease and that it might all be in my head.  My wife and I spent the next 45 minutes educating him about what to expect with a VCP gene mutation to not much success.  It wasn’t until I visited the Emory ALS Clinic that I found a doctor familiar with my genetic mutation.  I am his only patient with my genetic mutation. In rare diseases, access to specialty and timely medical care is crucial and can save lives and the unnecessary costs. Because there may be only a few experts in the world, many patients do not receive the care that they need.

After leading multiple businesses, I am now on full disability as we were “blessed” that I made some wise financial decisions to protect my family. I am still somewhat independent now, but my disease is progressive so I will continue to lose strength, energy, and the ability to walk. My wife and children are having to take a larger share of things l feel I should do, like mow the lawn, clean the gutters, and get things from the attic. I wish I could still do dad things like teach my boys to play basketball or take them camping. I am blessed with a wonderful family, but my rare disease is a burden to them. Rare disease affects everyone in the family. One in 10 people have a rare disease, 50% are pediatric diseases and only 5% of rare diseases have a cure. Rare disease affects many families in Georgia.

Others are not so “blessed” as I have been, and it is vital that we protect and advocate for those affected by rare disease.  My wife and I started a rare disease non-profit, Cure VCP Disease, in 2018, headquartered in Americus, Georgia, in order to help make life better for other rare disease families. We have funded research, facilitated scientific collaborations, and established a supportive patient community.

There are over 7,000 rare diseases and rare disease is complex.  I’ve learned how complex it is only because I am an affected patient.  HB 918, which advocates for the creation of a Rare Disease Advisory Council in Georgia will be one voice that can aid legislators, policy makers and the general Georgia population, in making prudent decisions to support and help rare disease patients and care partners in Georgia.  Finding a cure and treatment for rare disease is only half the battle. How will it be administered and most importantly, how will it be paid for?  Those are only a few of the important issues that the Rare Disease Advisory Council can help advise the people and representatives of Georgia.

Georgia’s Life Sciences Momentum is Getting Noticed Nationally.

August 21, 2026
Genetic Engineering & Biotechnology News (GEN) has named Georgia #4 among its “Next 5 States” for emerging U.S. biopharma clusters . The article highlights UCB’s planned $2 billion investment at in Gwinnett County, Micron Biomedical’s new Alpharetta facility, Manus Bio’s expansion in Augusta, Science Square, Emory University, the CDC — and Georgia Life Sciences’ 10-year Life Sciences Roadmap . This recognition is exciting. But even more importantly, it validates the work happening across our entire ecosystem — and perfect momentum as we head into the 2026 Georgia Life Sciences Summit next week. Read more by visiting: Next 10 U.S. Biopharma Clusters

BIO Supports PDUFA VIII Commitment Letter and Urges Timely Reauthorization

August 17, 2026
Biotechnology Innovation Organization (BIO) Senior Vice President of Science & Regulatory Affairs Annetta Beauregard issued the following statement on the release of the Prescription Drug User Fee Act (PDUFA) VIII commitment letter: “For more than 30 years, PDUFA has helped deliver hundreds of new medicines to American patients. As a lead industry negotiator for the PDUFA VIII agreement, BIO supports the PDUFA VIII commitment letter and its strengthening of regulatory review, advancing innovation, and helping deliver safe and effective treatments to patients. “Specifically, the PDUFA VIII agreement includes important commitments that bolster the FDA’s core review activities, ensure accountability for predictable performance, improve financial sustainability and improve communication, transparency and efficiency. “Timely, bipartisan reauthorization of PDUFA is vital for protecting the health of Americans, strengthening U.S. competitiveness, and maintaining America’s global leadership in medical innovation. BIO is committed to working with Congress to ensure reauthorization by September 30, 2027.” The FDA has announced plans to hold a hybrid public meeting at 9am on 9/16 to discuss the proposed enhancements for the reauthorization of PDUFA for fiscal years (FYs) 2028 through 2033. Learn More about PDUFA and the PDUFA VIII commitment letter HERE .

Georgia Life Sciences Submits Comments on Medicare Drug Price Negotiation Program

August 17, 2026
Representing Georgia’s life sciences community, GLS emphasized the importance of advancing policies that improve affordability and patient access while preserving the environment necessary for continued biomedical innovation. In its comments, GLS urged CMS to maintain a framework grounded in FDA regulatory determinations and raised concerns about how certain proposed policies could affect post-approval research and development, investment in new indications, and patient access to innovative therapies. GLS also encouraged CMS to consider the broader implications for healthcare delivery, including the potential impact on patients and providers in rural and underserved communities. As federal drug pricing policy continues to evolve, Georgia Life Sciences will continue to advocate for approaches that balance affordability, access, and innovation while ensuring Georgia’s life sciences community has a voice in the policymaking process. Read Georgia Life Sciences’ full comments to CMS ( click here ).
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