CureSPG50

@musk Please help save our children!! I will meet anywhere, anytime to discuss how we can change the world together!

Thank you all for your messages and the incredible wave of support. The past three months have been the hardest of my life. We’ve lost all avenues of funding, and years of hard work preparing for our trials came to a halt within days of the new U.S. government administration. Please share our story. If you know any of our leaders, please let them know we urgently need their help. If we continue down this path, our children may never see the treatments or cures they desperately need. Never before have we been so close to treating—and even curing—children with rare diseases. The only thing standing in our way is funding. Let’s turn this travesty into triumph!" youtube.com/watch?v=yLcm0K… @elonmusk @realDonaldTrump ->> We need your help, head our calls, listen to the 40 million Americans pleading for your support @KellyClarksonTV @kellyclarkson

Rare Disease In Crisis, Our Leaders Have Failed Us! On April 2nd, 2019, a piece of my soul was taken from me. That was the day my youngest son, Michael, was diagnosed with a rare disease called SPG50. In my darkest moments, friends, family, and strangers from around the world lifted my family up. They showed they cared—not just with words, but with action—helping us raise over $4 million to develop a treatment for my son and countless other children. Scientists, doctors, and leaders in the field stepped forward, offering their time, expertise, and unwavering commitment. Together, we took on the impossible. Through triumphs and setbacks, they stood by us, ensuring that this drug reached my son and others who desperately needed it. Because of this extraordinary support, I made a promise—a promise to repay an unpayable debt. I vowed to fight for every child in need. But this road has not been easy. And the past month? The hardest of my life and an example of how our leaders have let us down! On December 24th, we watched as our elected officials—those sworn to protect our best interests—turned their backs on us. They removed or denied life-saving bills in the Senate, dismantling programs that had stood for decades to help save children’s lives. Then, on January 23rd, we learned that the new administration had frozen scientific progress at the NIH, FDA, and CDC. The world’s largest public health and biomedical research institutions thrown into chaos—threatening to set science back for years and endanger the most vulnerable. Days later, we found out that all grants at these federal institutions are on hold. And yesterday, the final blow: CIRM in California denied our appeal to fund our program. Inexperienced reviewers decided that our children should simply wait for another treatment—one that will never come. They claimed our disease is too rare. That gene therapy in the CSF will not work, ignoring science, showing a lack of urgency and taking the easy road to simply deny our program and several others due to precedence. The rare disease community is in crisis. Our funding avenues are vanishing. We have gone from advocating for more to begging to keep what little we had. How is this possible? Where are our leaders? Who is keeping them accountable? Where is the urgency? Reality is we have been too complacent! We must stand up and say—loud and clear—this is unacceptable. We must hold these decision-makers accountable. And if they refuse to take responsibility, then they must go. I know the rare disease community is fractured. Too many groups, each fighting their own battles, moving inches when we should be leaping forward together. That must change. We must unite. We must speak with one voice. We must demand that our elected officials and leaders do better—because our loved ones deserve better. This is our moment. This is our fight. We need To Stand together, Rare Disease Day 2025…. Because our children’s deserve better! @elonmusk @realDonaldTrump @NIHDirector @US_FDA @CDCgov #raredisease

I am deeply honored and grateful to have been selected to speak at the Cell & Gene Therapy Forum today at The White House The event was truly inspiring, bringing together leaders, advocates, mentors, and so many individuals who have supported and continue to support our journey. A heartfelt thank you to Kamal Menghrajani for the invitation, @CraigLipset for chairing the panel, and my fellow panelists Adora Ndu, PharmD, JD, Crystal Mackall, and Darshak Sanghavi for such meaningful dialogue. I Pray the new administration (@realDonaldTrump , @elonmusk & Vice President @JDVance ) hears our urgent calls and prayers to take action. The rare disease community is facing a crisis. Instead of advocating for progress, we are pleading to preserve the little we have left. Help us drive meaningful change: advocate for increased funding for rare diseases, push for congressional approval of critical rare disease policies, ensure comprehensive newborn screening for all infants, and support Dr. Peter Marks in advancing impactful reforms at the FDA, just to start! #BringBackThePRV #RareDeserversMore #ourchildrendeservebetter #whitehousecgt

Last Rare Disease Day, I found myself urgently trying to reach Senator Sanders and his team, who posed the biggest threat to preserving the Priority Review Voucher (PRV) program. The devastation I felt when Senator Paul, stating that his senatorial obligations had run their course at such a late hour, chose to block Senator Bennet’s heartfelt appeal to save the PRV and other critical life-saving bills is indescribable. Today, I mourn for the countless families who will feel the impact of this decision. Our children and their futures deserve so much more! Here is my open letter to Senator Paul that express how I feel about his actions. Senator Michael Bennet Senator Rand Paul -------------- Dear Senator Paul, My name is Terry Pirovolakis, and I am the father of a brave boy named Michael. On April 2, 2019, Michael was diagnosed with SPG50, a devastating and ultra-rare disease. At the time, we were told there was no hope—that we should simply go home, love him, and give him the best life we could. Refusing to accept that fate, my family and I, with the support of tens of thousands of compassionate Americans and people from around the world, raised $4.5 million to develop a gene therapy for Michael and the other children affected. On March 24, 2022, Michael received that treatment—a testament to the power of perseverance, innovation, and community. Our story is detailed here: sickkids.ca/en/news/archiv… After Michael’s treatment, I sought to make the therapy available to others by offering it to companies, hospitals, and academic institutions. Tragically, I was met with disinterest, as the small number of affected children made it commercially unviable. Knowing I could not abandon these children, I left my career and, with the help of incredible philanthropists, founded Elpida Therapeutics, a nonprofit biotech organization. The PRV incentive was the only available driver of our mission, allowing us to bring this therapy—and others—to more children and, ultimately, secure approval, so no family has to face the hopelessness that my wife and I once did. Over the past year, I’ve been contacted by numerous organizations forced to abandon rare disease programs due to financial constraints and a downturn in the pharmaceutical industry. More than 50 programs have been dropped—some with treatments ready for use—leaving families in anguish and children without hope. For decades, the Priority Review Voucher (PRV) program has been a lifeline for the rare disease community, incentivizing the development of treatments for conditions that lack commercial viability. This program, which costs taxpayers very little, has saved countless lives and provided hope to families in desperate situations. On Friday night, Senator Bennet made an impassioned plea before the Senate, highlighting the plight of 40 million Americans affected by one of the 10,000 rare diseases, of which fewer than 5% have a treatment. With 3,000 children dying each day from these conditions, this bill offered hope. Instead, you chose to block it—not because of its merits, but because of the inconvenience of a late-night vote. Your decision has devastated the rare disease community. Families who clung to hope will now see it slip away. Promising programs will be abandoned. And most tragically, more children will lose their lives, leaving parents to endure the unbearable pain of burying their children. These losses will be a direct consequence of your actions. We are heartbroken but resolute. The rare disease community will continue to fight—not only for this bill but also to ensure that those who fail to protect the most vulnerable among us are held accountable and never again entrusted with such power. Our children deserve better! Respectfully, Terry Pirovolakis On behalf of the Rare Disease Community @SenatorRandPaul @SenatorBennet @elonmusk @realDonaldTrump

Thank you, @statnews and Jason Mast, for sharing our story and raising awareness about our family’s journey and @elpidatx Therapeutics. The road has been long and difficult, but our children are far too important to ever give up on. I hope this story brings hope to families in similar situations, reminding them that nothing is impossible. statnews.com/2024/12/09/pir… @elonmusk

@elonmusk We need your help more than ever, please PM me so I can explain how you can help save 400m people affected.

@pubity @elonmusk this is me I am the dad! I need your help to save more kids. I don’t need your money I need your influence. I have tried everything to speak with you, please reach out so I can tell you the plan to eradicate this and other diseases!

@elonmusk this is me I need your help to save kids. I have tried everything to speak with you.. I have a plan and just your vision and influence to make it happen. Please help me save more kids!!

@SickKidsNews @sickkids @NatureMedicine We want to thank The Hospital for Sick Children for saving my son and truly going above and beyond. We moved mountains together, and hopefully, the treatment we created for Michael will turn out to be a legacy for others with rare diseases, proving that nothing is impossible!

In 2022, 4-year-old Michael received an individual gene therapy at SickKids for #SPG50, an ultra-rare neurodegenerative condition. Today, #SKResearch shows Michael’s progress & the potential impact his clinical trial holds for genetic medicine.🧬 Read ➡️ bit.ly/3La4mBv

@CBCNews We want to thank The Hospital for Sick Children for saving my son and truly going above and beyond. We moved mountains together, and hopefully, the treatment we created for Michael will turn out to be a legacy for others with rare diseases, proving that nothing is impossible!

Michael Pirovolakis, 4, is the only child in Canada diagnosed with the neurodegenerative disorder SPG50. He's now part of a groundbreaking gene therapy trial where Michael is the only participant. cbc.ca/1.6550306

We want to thank The Hospital for Sick Children for saving my son and truly going above and beyond. We moved mountains together, and hopefully, the treatment we created for Michael will turn out to be a legacy for others with rare diseases, proving that nothing is impossible!

A few days before the end of the year my disabled child doesn't have a placement for next year. I have never been so disappointed or upset! Can someone please help us get Michael into the right school not a last minute pass off. @tdsb , @Sflecce . @fordnation @TDSBDirector

@globeandmail Thank you so very much for sharing our story!! Our story is of hope, determination but more importantly showing you can do anything if you work hard enough!

Families step up to find gene therapies for diseases too rare for research firms theglobeandmail.com/canada/article…

@DrBiol Thank you so much!! I hope our story brings hope to families and parents knowing someone else has done it and it can be done its not impossible!!

@CureSPG50 name dropped in London today, celebrating the drive and determination to achieve treatment delivery, but also acknowledging that it should not be down to the patient alone to make this happen. #LATSS2024

Blessed to work with this incredibly talented team @BostonChildrens @DEF_Lab_HMS & fantastic families on #raredisease #movementdisorders #HSP. 🙏🏽 @Kasey_47 @CureAP4 for supporting our natural history study (clinicaltrials.gov/study/NCT04712…) & so much more. Teamwork makes the dream work…