Epilepsy Journal

The #1 app for Epilepsy.
Learn more about your epilepsy. Obtain greater control of your seizures.

[Epilepsy Journal @Ollytreeapps]

😎 still true

[Epilepsy Journal @Ollytreeapps]

@PopCrave Dg: Rosaceous lymphedema/ Morbihan disease

[CureSPG50 @CureSPG50]

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!"
https://t.co/ImdfZtswFQ

@elonmusk @realDonaldTrump ->> We need your help, head our calls, listen to the 40 million Americans pleading for your support

@KellyClarksonTV @kellyclarkson

[CureSPG50 @CureSPG50]

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

[Epilepsy Journal @Ollytreeapps]

@Kohe_8 Congratulations Ivana & Kohei! ❤️❤️👶

[CureSPG50 @CureSPG50]

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: https://t.co/y9HSSjnOFG

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

[Misha @mishadavinci]

GENE THERAPY - the replacement of a defective gene in an organism.

Recombinant DNA techniques are used to isolate the functioning gene and insert it into cells.

By 2030, hundreds of gene disorders will be successfully treated by gene therapy. 💣

[Epilepsy Journal @Ollytreeapps]

Celebrating Giving Tuesday by donating to FINDING HOPE FOR FRRS1L!

https://t.co/BjTOGzKxwr

[Epilepsy Journal @Ollytreeapps]

Thank you!! ❤️❤️

[こうへいライフ🇭🇷🇨🇦 @Kohe_8]

実は私の姪オリビアはFRRS1Lという世界でも珍しいDNAの病気を患っており話したり身体を動かす事ができません。私の義理姉が設立した財団がこの病気のための遺伝子治療に必要なUS110万ドルを集めていて今年の12/31までに少しでも寄付して頂ける方を探しています。是非拡散をお願い致します。#寄付

[Epilepsy Journal @Ollytreeapps]

@JeffBezos @elonmusk @VancityReynolds @goranvisnjic @jennifergarner @Oprah @eltonofficial @taylorswift13 @BarbaraJWalters

[Epilepsy Journal @Ollytreeapps]

https://t.co/88dDmSvuKB

🌟Please watch to learn more about Finding hope for FRRS1L!

#FRRS1L #genetherapy #hope #frizzle

[Epilepsy Journal @Ollytreeapps]

@JeffBezos @elonmusk @VancityReynolds @goranvisnjic @jennifergarner @Oprah @eltonofficial @taylorswift13 @BarbaraJWalters

[Epilepsy Journal @Ollytreeapps]

⭐️ All donations will be 100% matched until December 31! ⭐️
Our goal is to raise $1.1 million by Dec. 31 - this will enable us to begin toxicology testing in January 2025 - one of the final major steps before being able to treat our children!

🔹️ https://t.co/wKh4y5Iz8v

[Epilepsy Journal @Ollytreeapps]

The development of a gene therapy for FRRS1L (frizzle) has reached its final stages!

Our current goal is to reach $1.1 million by Dec. 31 to fund the toxicology study (to prove treatment safety)

All donations made until Dec 31 will be 100% matched!

https://t.co/iQSVfZBnuf

[Epilepsy Journal @Ollytreeapps]

Over the last 3 years families affected by FRRS1L (frizzle) from around the world have been working tirelessly to raise money for the development of a gene therapy for frizzle

#FRRS1L

[Epilepsy Journal @Ollytreeapps]

Our beautiful daughter Olivia inspired us to create the Epilepsy Journal App.

Olivia suffers from a rare genetic disease called FRRS1L mutation (frizzle)

[Epilepsy Journal @Ollytreeapps]

Donate here: https://t.co/iQSVfZBnuf

All donations will be 100% matched until December 31!

[Gene Of The Day @GeneOfTheDay]

Today’s #GeneOfTheDay is #Frrs1l. Human diseases associated with this gene include Epileptic Encephalopathy. Mice with this gene inactivated exhibit abnormal gait & limb grasping: https://t.co/9Ep3T1FOZc

[Mexinobi 🥷 @Mexinobi21]

Considere apoyar el buen trabajo de Finding Hope for FRRS1L, al donar o compartir esta campaña con otros a quienes les gustaría ayudar. https://t.co/es4Q2kyyy2

[Epilepsy Journal @Ollytreeapps]

Become a FRRS1L ambassador and join our team to help fundraise for the development of genetic therapy for FRRS1l disorder. FRRS1l is devastating pediatric disorder. We are close to a cure!
Find out more at: https://t.co/2qneTm1NBx

[Epilepsy Journal @Ollytreeapps]

Please share to help us fund development of genetic therapy for FRRS1l disorder. FRRS1l is devastating pediatric disorder which causes complete loss of function. We are close to a cure!
Donate at https://t.co/2qneTm1NBx