Category Archives: Updates

YAYA Foundation for 4H Leukodystrophy updated news

Proud to be #RareAsOne

Celebrating Year One of the Chan Zuckerberg Initiative Grant

The Yaya Foundation for 4H Leukodystrophy is celebrating one year of growth and accomplishments thanks to the joint efforts from our partners at CZI and collaboration with our Rare As One network.

“We are so grateful to the Chan Zuckerberg Initiative and the entire #RareAsOne family for the opportunity to be a part of CZI’s Rare As One program. The grant, through its training and capacity building, networking, and funding, has changed the trajectory of our disease community’s efforts to collect data to improve understanding of 4H (POLR3-Related) Leukodystrophy and accelerate the discovery of therapies that will help people affected by 4H live longer, better lives. Thank you, CZI!”

Ron Garber, Co-founder & President of the Yaya Foundation

We wanted to mark this milestone by highlighting some of the accomplishments that the Yaya Foundation has made in the last year with the support of the Rare As One grant and community:

  • Launched the 4H Leukodystrophy Research Network (or #4HCN), a collaborative research network of researchers, clinicians, and patients/families from different disciplines and labs across the globe.
  • Hosted 2-day working meeting of #4HLCN focused on discussing current state of science and potential pathways to better disease understanding and therapeutic discovery.
  • Created a strategic Research Roadmap toward developing a cure and therapies for 4H and started executing on it.
  • Hosted several #4HLFamilies Zoom calls at which families and caregivers connected, sharing knowledge and best practices, and just getting to know and connect with each other.
  • Created significant organizational capacity, building a professional, mission-driven team, streamlining organizational policies and practices, and working towards a sustainable fundraising model.

The Yaya Foundation is proud to be #RareAsOne and we look forward to continuing to accelerate research and support our community of families affected by 4H.

Yaya Foundation for 4H Leukodystrophy is Lighting Up US Bank Stadium for Rare Disease Day

US Bank Stadium, Along with Landmarks Across the United States, Will Light up in Support of The Rare Disease Community

MINNEAPOLIS, MN. (February 24, 2020) — Since the creation of Rare Disease Day in 2008, it has been a time for the rare community to come together, find support, and shine a light on rare diseases across the globe. This year, the Yaya Foundation for 4H Leukodystrophy is lighting up US Bank Stadium in downtown Minneapolis as part of a national effort to “light up the world for Rare Disease Day!”

This concept originated in 2019 when the Empire State Building in New York City was striped in Rare Disease Day colors thanks to the work of the National Organization for Rare Disorder’s (NORD) Corporate Council. Since then, the images of many famous landmarks across the United States shining bright for Rare Disease Day have been an inspiration for many and has raised awareness of the over 7,000 rare diseases that collectively affect millions of Americans.

The Yaya Foundation is committed to supporting and accelerating efforts to find therapies and cures for 4H Leukodystrophy, a rare and devastating genetic neurological disorder that currently is without supporting therapies. By participating in the national observance for Rare Disease Day, the Foundation hopes to raise awareness of this devastating disease, its resilient community of patients and families and the role that a patient advocacy group can play, in fighting 4H or any rare disease.

“As the only organization in the world dedicated to fighting for patients and families affected by 4H Leukodystrophy, no one can match our passion or commitment to finding a cure,” said Ron Garber, Yaya Foundation co-Founder and President. “We, together with other patient organizations like us across the rare disease community, are working tirelessly to accelerate efforts to discover therapies and cures that will improve and lengthen the lives of millions of people affected by rare diseases.”

If you are interested in participating in this grassroots effort to Light Up For Rare – US Bank Stadium edition, there are multiple opportunities:
• Join our Facebook Live via the Yaya Foundation’s page, https://www.facebook.com/yayafoundation4HL, this Sunday February 28th at 5:30 pm CT
• After the event, the Yaya Foundation will share images to its Facebook page, https://www.facebook.com/yayafoundation4HL. Please share those posts and images to continue the celebration and to raise awareness of rare disease.

Beyond Rare Disease Day, there are many ways that anyone can support the rare community. Please consider that living with a rare disease can be isolating and that giving extra kindness can go a long way for families. Especially due to Covid-19, check in on your neighbors, friends and families who may be living with a rare disease to see if there is extra support you can lend. Consider volunteering or donating to your favorite rare disease patient advocacy group or foundation. And, finally, you can learn more about the more than 7,000 rare diseases affecting 30 million Americans at NORD’s website, https://rarediseases.org/.

About the Yaya Foundation for 4H Leukodystrophy

Co-Founded by three groups of parents of children with 4H Leukodystrophy, the Yaya Foundation is the only organization in the world dedicated to fighting for patients and families affected by 4H Leukodystrophy. It aims to create an eco-system that will advance efforts to find a therapy or cure for patients with 4H Leukodystrophy and to provide educational and emotional support to families. For more information, please visit www.yayafoundation4HL.org.

About Rare Disease Day®

Rare Disease Day® takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. It’s never too early to get involved!
The National Organization for Rare Disorders (NORD) is the official Sponsor of Rare Disease Day in the United States alongside our sister organization, EURORDIS (The European Organization for Rare Disorders), which organizes the official international campaign. To learn what’s happening around the world, visit the global Rare Disease Day website at rarediseaseday.org.

Rare Action Network, MN powered by NORD

The RareAction Network® (RAN) is pleased to support this event. RAN is the nation’s leading advocacy network working to improve the lives of the 30 million Americans living with a rare disease at the state level. RAN serves as a broad spectrum of stakeholders ranging from patients, to their families, caregivers, and friends; from researchers to industry; to physicians and academia. While working predominantly at the state level, the network will filter information up to NORD’s national federal policy team to help address issues of national concern. More information here: https://rareaction.org/get-involved/join-rare-action/

Jonathan

One Mother’s Perspective

The Early Questions

Long before I had ever heard of learning disabilities, attention deficit disorder, language impairments and emotional handicaps, I believed that young children learned what their parents taught them or what their parents modeled for them. By the time my middle son, Jon, was three years old, my confidence in what I was able to teach or model were well on the way to being shattered. His extreme emotional reactions, seemingly endless tantrums and stubborn defiance did not respond to any of the parenting methods neither I nor my husband had learned from our parents. To the casual observer, it was apparent that we were obviously doing everything wrong.

There was no shortage of advice. Our families and friends were quite willing to share their ideas on how we should be handling this child. Usually the advice centered on how we needed to demand compliance, on how he behaved this way only because we allowed him to, and on how we were failures as parents. Later, as Jon began nursery school and played with other children, the advice came from the angry parents of children whom Jon had hit, pushed, shoved or bitten. The advice not only criticized us as parents but was also hateful of Jon as well. 

I look back and I feel sorry for the first teacher who suggested that Jon be evaluated. Long before she worked up the courage to give us some useful advice, we had endured the advice and criticisms of so many others, we had learned to be instantly defensive, to not attempt to explain how we had tried, and to regard advice as hate for our child. We withdrew from neighborhood play groups, and while enduring Jon’s behaviors, we doubted ourselves as parents and began to blame each other. To my husband, it was obvious that I spoiled this child. To me, it was evident that my husband barely liked this child and that was causing the problems. We were risking becoming the dysfunctional family everyone seemed to believe we were.

Beginning a Journey Toward Answers & Support

When Jon was almost four years old, we took him to a psychiatrist. Never having learned of other potential categories, we were afraid that Jon was mentally ill. That one-day visit resulted in more useless advice—Jon was oppositional, perhaps he would outgrow it, and we had better learn to live with it. We continued to try.

When Jon began kindergarten, we predictably endured more of the implications that we were somehow responsible for the way Jon was. Our home life was questioned, our answers doubted, and our child was miserably unhappy. Toward the end of the kindergarten year, after having yet another of those phone calls asking what I was going to do about Jon and knowing I had nothing left to try, the teacher suggested we see a therapist. That day I must have been a particularly vulnerable one for me, because in spite of the fact that whenever that had been suggested in the past, it followed questions about some hidden evil in our home life, I finally admitted that it must be my fault. I call a psychologist that afternoon, and within three days our family had begun what would turn out to be five years of guided training in behavior modification techniques. We learned that all the typical things we had tried were not bad, just ineffective for this child. We learned to divide the day into a series of strict routines, to structure each segment carefully so that nothing came as a surprise to Jon, and to tackle one behavior at a time. We learned passive restraint techniques, “reward box” incentives, but most importantly, we learned it wasn’t our fault. 

Eventually, Jon was evaluated and determined to be severely speech/language impaired, learning disabled, and to have attention deficit disorder. At age eleven was he also identified as emotionally handicapped, I guess because by then it was obvious that even though we could learn to manage him, we were not going to “cure” him. Despite the ominous sounding labels, we now had for Jon, I finally felt that I no longer had to defend myself from school staff implications of a dysfunctional home. I became active and visible as a school volunteer to attempt to dispel the lingering notions that I was some type of monstrous mother. I read anything I could get my hands on about Jon’s labels. I found my confidence in myself as a parent again, and I was able to forgive all those friends, family members and teachers for not understanding the problem because I, too, had not understood. Once the evaluations were complete and medications were suggested, we dared to believe that perhaps we could “fix” Jon. That hope was short-lived, however, as the first medication caused Jon’s heart to beat erratically, another medication accentuated his changeable moods to the point of chaos, another medication made him so hyperactive and daring that we feared for his life, and another left him so depressed, he would spend hours for hours on end crying. We finally settled on a combination of three different medications that seemed to smooth out the rough edges of his behavior.

Finding More Support & Happiness for Jon

In his elementary years, Jon attended school in a Learning Disabilities Collaborative classroom. Although he remained significantly behind academically, he made steady progress. He enjoyed school and seemed to be happy. He has learned, for the most part, how to bring himself back from the brink of emotional overreaction.

Through the years, we recognized the importance of teaching Jon how to create his own structure. As Jon approached adolescence, his greatest challenges were on the horizon. His social skills are weak, impacted by his language disability, and his first friendships were tentative. As we prepared for the transition to middle school, we were torn between the social advantages of a full inclusion placement and the fear that Jon would again become emotionally overwhelmed by the loss of a strict structure and acts of peers who would not understand what difficulties he faces.

Today, Jon is in his late 30s, diagnosed with 4H Leukodystrophy also known as POLR3B Leukodystrophy. He has experienced a steady decline of all functions over time. He is functionally blind due to a completely detached retina in his left eye and a repaired detached retina in his right eye. With glasses, he can see a little. Although he was once able to read and spell at least a 5th grade level, he struggles to do any of those things now.

He is generally healthy as far as common illnesses are concerned. Jonathan is a large boy and uses a wheelchair and a walker to move around. Jon has two brothers – Nicholas and Benjamin – neither one is affected with 4H.

Jon has a well-developed sense of humor, with bathroom humor dominating his repertoire. He has always lived with his parents until his recent move to a group home in early 2019. He seems to be adjusting very well. Jon is still verbal and although most of his group-home mates are not, Jon enjoys much attention from the staff. They can get his laughing without much effort and this disposition cheers everyone.

I have learned to accept that this is a long-term challenge for me and for Jon. After experiencing so much failure, I marvel at his determination. In so many ways, I’m prouder of what he has accomplished than I ever would have been had he been more “typical”.

Asher

Diagnosis

Asher is a beautiful, 7-year-old boy living with 4H Leukodystrophy, POLR3B type. Asher was born healthy and to term. He joined an older sister and his family was thrilled to have a little boy. He met all early milestones and was happy, with the most infectious smile.

At 12 months Asher was not walking, but his mom, Rachel, thought nothing of it as she had heard some boys take longer. At around 14 months Asher started walking and as he grew, his parents noticed he was not growing out of his clumsy toddler walk. He began falling down a lot and developed fine motor tremors.

At around 3 years Asher’s parents became concerned and took him to his primary doctor. He was then referred to a neurologist. After ruling out different diagnoses through blood tests, an MRI was done in October of 2016. Watching Asher be carried away to the MRI room was the most gut-wrenching thing Rachel had experienced. She had no idea how their lives would change after that test. A life altering, incurable diagnosis never crossed her mind.

Two days before Thanksgiving in 2016, Asher’s family got the results of the MRI. His neurologist had asked them to come in prior to the holiday, stating that the news would require much support from our family. They drove the 4 hours to his neurologist, trying to keep a smile for Asher but terrified the entire time. At the appointment, the doctors told the family that they found hypomyelination in the white matter of his brain, consistent with Vanishing White Matter Leukodystrophy, or VWM. Asher’s parents were given informational hand outs and advice for his care, leaving the doctor’s office numb, angry, and scared. Their son was happy and unaware of his fate, while his parents were tormented, grieving and fearful of the future. The entire ride home Rachel cried in the front seat, not wanting Asher to see. That Thanksgiving was spent sharing the devastating news with family and attempting to put smiles on their faces for the children.

Rachel spent the next days and weeks furiously researching VWM. Asher’s MRI was sent to Dr. Nicole Wolf in Amsterdam to get verification because his neurologist had never seen a leukodystrophy patient before. Dr. Wolf was skeptical that it was actually VWM. Rachel pushed for genetic testing and after much back and forth for insurance coverage, Asher was tested. It was then determined that he had 4H Leukodystrophy, POLR3B type. Rachel felt a wash of grief all over again. She had researched, connected with and fundraised for the wrong type of leukodystrophy, feeling alone again.

Connecting

After receiving the correct diagnosis, Rachel connected with other families and doctors through Facebook groups for POLR3 caretakers. She also connected with Dr. Genevieve Bernard’s lab in Montreal, talking through the family’s concerns and questions.

Through connecting with other families, Rachel feels less alone. Despite being miles apart and having never met many of these families, there is common challenge that connects them. Shortly after Asher’s diagnosis, his family started a Facebook page called Asher’s Army to spread awareness and fundraise for 4H. The support Asher’s community gave to his family in those first months, including an outpouring of love and prayers, was nothing short of incredible. A silent live auction was organized that raised thousands of dollars, most of which was sent to Dr. Bernard’s lab for 4H research.

Impact

The impact of 4H on Asher and his family’s daily lives is both physical and emotional, getting more difficult each year. Asher’s body grows but he loses abilities. He is seven but functionally a toddler. His parents dress, bathe, change, and feed him. He is unable to feed himself due to tremors and a weak grip. Any fine motor skills are difficult to impossible for him. He is very small for his age so his parents are able to carry him when he is fatigued or can’t navigate the terrain, however, the time is soon coming when they will no longer be able to safely carry him.

Their day to day lives have to take into account Asher’s limitations and abilities.  His cognition is affected as well. Asher has learning difficulties and can have wide swings in emotions and behaviors.

For Asher’s mom, the emotional toll is far more exhausting than the physical. From the heart shattering diagnosis to navigating daily life since, Rachel’s mind is constantly worried about the what if’s and the unknowns. The little, joy filled moments each day are tinged with grief as she contemplates his future. He smiles and laughs and she is heartbroken that Asher has to face this disease.

In his short time on earth so far, Asher has changed lives for the better. His kind heart and perseverance have inspired many in his circle of friends and family. He has taught many to appreciate and cherish the small moments. He has also given Rachel a reason to get out of her comfort zone and fight and advocate for children with rare diseases like his.

AsherMoving forward

Dealing with a rare disease that has no treatment or cure often leaves Rachel feeling incredibly helpless. Advocating for Asher and for the advancement of 4H research for a cure – through sharing his life, challenges, recent research, and fundraising on his Facebook page – helps Rachel feel less helpless.

Asher was diagnosed on November 22, 2016, so each year on November 22 his family and friends wear blue for Leukodystrophy awareness, turning a difficult day into one of hope.

Asher’s Army has joined forces with the Yaya Foundation for 4H Leukodystrophy. The Yaya Foundation is making great strides in collaborating with families and researchers to discover therapies. Sharing Asher’s story and fundraising for research gives many hope and empowers Rachel to keep fighting for Asher and other children like him.

A Mother’s Words

“There are no words to describe how incredible my son is. He has taken this disease head on with incredible strength. His life has been filled with appointments, therapies, disappointing diet changes, and he rarely complains. He always finds the good and has a smile on his face. He loves Spiderman, dinosaurs, his 4-wheeler and his dog, Baxter. He is one hundred percent a mama’s boy and I love it. He still cuddles with me and gives me a ‘dino kiss’ every morning. As he grows, he is starting to see more and more of his limitations. He is getting more frustrated that he cannot keep up with other children. However, he has not lost his positivity or his caring and loving attitude. He simply finds a way to adapt and overcome. Asher has a lot to teach us by showing us joy and how to cherish the important things in life.”

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Yaya Foundation Awarded Chan Zuckerberg Initiative Grant

$450,000 grant will support patient-led 4H leukodystrophy research network led by the Yaya Foundation for 4H Leukodystrophy

Today, the Yaya Foundation for 4H Leukodystrophy announced its receipt of a $450,000 grant from The Chan Zuckerberg Initiative’s (CZI) Rare As One Project. CZI’s mission: to support patient communities’ efforts to accelerate research and drive progress in the fight against rare diseases. The Yaya Foundation is one of 30 patient-led organizations that received a total of $13.5 million in funding from CZI. 

“A community of support and research is so important when a family is trying to learn about their child’s health and medical needs and advance research that will ultimately impact their children’s lives. For rare diseases, that community is even more critical,” said Ron Garber, the foundation’s co-founder and president. “We came together as families because we know we can connect families, advance research and pool our collective knowledge to work toward therapies and a cure. CZI’s support will enable us to maximize the impact of our work.”

As the only organization in the world dedicated to fighting for patients and families affected by 4H Leukodystrophy, the Yaya Foundation is singularly focused on advancing research and knowledge to find therapies and cures for 4H Leukodystrophy. CZI’s Rare As One grant will provide critical funding, training, and capacity-building. 

Over the two-year term of the Rare As One grant, the Yaya Foundation will build a collaborative research network with these goals: 

  • Building a community of researchers and clinicians with the skill sets needed to advance research, new treatments and a cure for 4H Leukodystrophy; 
  • Identifying and prioritizing the highest leverage and most critical research; 
  • Directing funding to make the most impact for patients; and  
  • Disseminating findings rapidly so that research can effectively be built upon to drive new treatments – and find a cure. 

To launch this collaborative effort, the Yaya Foundation will host the first international scientific conference dedicated to 4H Leukodystrophy in 2020. This disease community’s research and clinical stars, including Dr. Geneviève Bernard (McGill University/Montreal Children’s Hospital), Dr. Adeline Vanderver (Children’s Hospital of Philadelphia), and Dr. Nicole Wolf (Amsterdam University Medical Center), have agreed to join the effort and provide leadership alongside the group’s patient and family community.

“Our small but resilient community believes that  collaboration among patients, families, researchers, and clinicians will accelerate progress in our search for a cure. We are hopeful that the expertise of our scientific community, combined with the commitment and input of our patients and families and the power of the Rare As One platform, will change the outlook for patients suffering from 4H leukodystrophy,” Cheng said. 

About the Yaya Foundation for 4H Leukodystrophy 

Co-Founded by three groups of parents of children with 4H Leukodystrophy, the Yaya Foundation is the only organization in the world dedicated to fighting for patients and families affected by 4H Leukodystrophy. It aims to create an eco-system that will advance efforts to find a therapy or cure for patients with 4H Leukodystrophy and to provide educational and emotional support to families. For more information, please visit www.yayafoundation4HL.org.