Category Archives: Updates

YAYA Foundation for 4H Leukodystrophy updated news

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.