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Turning the tide for rare disease

The first step in advocacy is believing in the power of your own voice

Cristina Rosa’s son Julius (Juju) was diagnosed with CLN2 disease on 28 May 2021. Since that diagnosis, Cristina has become an articulate advocate for the rare disease community, campaigning on several fronts to effect change. While she has only been part of the community for a short time, her energy and her impact clearly show the power we have when we advocate for what we know in our hearts to be right

By Cristina Rosa

Helping the CLN2 community to be heard

Advocating for the rare disease community provides me with a genuine sense of accomplishment, and I have put in a lot of work in the rare disease community in a short period of time. When we received Juju’s diagnosis, I took immediate action to learn more about the disease and the treatment options available to my son.

The current standard of care for CLN2 disease is bi-weekly infusions of an enzyme replacement medication, which takes hours to administer, not to mention time spent in the hospital, job and travel delays, fatigue and other symptoms. The feeling that this could not be my only option prompted me to do more research, and I discovered that gene therapy treatments for a variety of Batten diseases, including CLN2, are being investigated.

After learning that many of these trials are being delayed from entering clinical trials, I was left with only one option. I sent a petition to the FDA, hoping to open their eyes to the possibilities of gene therapy for Batten disease, particularly CLN2, and to help them understand the hardship these diseases have on families and patients, despite the fact that a bi-weekly therapy has been approved.

The FDA gave me permission to hold a patient listening session, a fantastic initiative for the CLN2 community. I invited a few other family members to join the meeting, and we had a fantastic discussion about life with CLN2. Each child’s story is unique, and we all share the same desire to make a difference and save our children’s lives. I work extremely hard to advocate not only for my son, but for all of the families who may be afraid to speak up.

Effecting change for the wider rare disease community

I am a firm believer in the idea that if you have a voice, it should be heard. Advocacy is my passion, which is why I want to be a lawyer. I already have seven years of experience working as a paralegal, and I am also a criminal justice major student who will finish my bachelor’s degree in July 2022. After I graduate, I hope to work as an intellectual property paralegal for a science biotech company and then as a lawyer for the rare disease community. 

My overall goal is for life-changing therapies to be provided to my child and all people living with a rare disease. I will make every effort to do so, and the14,000 signatures from around the world supporting my efforts show that I am far from alone.

On Capitol Hill in Washington, DC, I am a member of the Rare Disease Legislative Advocate group (RDLA). I was honoured to be able to virtually meet with my New York State members of Congress. I lobbied for co-sponsorship of the Speeding Therapy Access Today Act of 2021 (STAT Act. H.R.1730 / S.670); this is critical to the community of people living with rare diseases. It is critical that medicines advance so that patients like my son can receive treatment that will benefit him in the short term. I am passionately advocating for this cause because, in the rare disease community, we do not have an average of 15 years to hope for the development of a treatment to combat rare diseases. Every moment is valuable, and no time should be squandered.

the power of your own voice
the power of your own voice

Another one of my advocacy efforts is my affiliation with Rare & Ready: A Genetic Condition Coalition, as well as Strengthen the FDA, and I intend to become involved with more organisations. I have a wealth of knowledge that I am eager to share, and I want to be able to provide the world with what it requires. I am determined to effect positive change in the rare disease community, not only for my son’s condition, but for many other diseases as well. 

I will continue to strengthen my advocacy efforts in any way that I can. I network and share resources with others, and I look for any opportunity to share my story with policymakers and organisations, and I reach out to help others. I was recently accepted into the prestigious Advocacy Learning Program “Making an Impact on State and Local Policy”. This is a six-week training course that will help me improve my advocacy skills, and I can’t wait to start!

Believe in the power of your own voice

I am extremely grateful for the opportunity to share my advocacy efforts with everyone, including here with RARE Revolution, and I hope that my story will serve as an inspiration to others. I remember having some self-doubt at the beginning of my advocacy, but when I saw how many signatures my petition received, I realised I had the potential to make a difference as a leader. My best advice to anyone is to never doubt your ability to achieve your goals.

Advocating for something that gives you a genuine sense of purpose is the type of advocacy you should strive for. Your voice matters, and it must be heard. Your “silly” idea could turn out to be the wisest words of wisdom another person hears. Others will be motivated and inspired by your words. That is what I hope to accomplish: to motivate and inspire others to speak up and advocate for whatever they believe is right in their hearts. Advocates like me strive to create change, and advocacy begins when a person starts believing in the power of their voice.

Cristina’s petitions for the FDA to approve clinical trials of gene therapy for CLN2 disease can be accessed through the links below:

regulations.gov/document/FDA-2022-P-0032-0001


change.org/p/federal-drug-administration-petition-for-fda-to-grant-clinical-trials-of-gene-therapy-for-cln2-patients


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