Author Archives: Gina Parkins

Jamie & Layla

Meet Courtney and Nick and their two beautiful daughters, Jamie (4) and Layla (2). In 2019 both Jamie and Layla were diagnosed with POLR3A / 4H Leukodystrophy.

JamieJamie was born in 2016 and had developmental struggles from about 4 months old, not hitting any of the expected milestones on time. She bobbled her head and shook all the time and at one-year old Jamie developed a nystagmus, a vision condition in which the eyes make repetitive, uncontrolled movements. She was in PT by 10 months old and started to catch up some. By 12 months she was sitting, crawling by 14 months and pulling to stand by 16 months. However, Jamie’s uncontrollable muscle contraction, or dystonia, and ataxia always kept her from standing or walking on her own.

2018 proved to be challenging for Jamie, being inpatient at the hospital 5 times and in and out of the ER countless times for aspiration pneumonia, gtube surgery, and viral infections almost every other month.

Courtney’s mama instincts drove her to do some research on Jamie’s symptoms and condition. Despite being dismissed and feeling helpless, Courtney was committed to searching for answers. Jamie’s neurologist finally sent the family to Atlanta to see a geneticist. About 12 weeks later, they received a diagnosis of hypomyelinating leukodystrophy.

It was heartbreaking to hear the diagnosis and to know that none of the doctors listened. After the news, Courtney and Mike drove to Children’s Hospital of Philadelphia, or CHOP, to meet with Dr. Adeline Vandevere, the only doctor in the US specializing in this specific form of leukodystrophy.

Jamie continued to thrive in OT, PT and speech for a combination of 5 therapies a week until, late 2019 when Jamie began to decline. By March 2020, she was no longer able to pull to stand, crawl, sit on her own, had lost all head control and her very limited vocabulary that she did have. Jamie’s movements became even more dystonic and the spastic uncontrolled movements set in as well.

At almost the same time that Jamie’s parents realized they were dealing with something more than developmental delays, they found out they were pregnant and Layla was born in 2018.

At about 8 months old, Layla was showing the same symptoms as her sister, Jamie, and her parents decided to have Layla tested as well, ultimately receiving the same diagnosis of 4H Leukodystrophy.

LaylaAt 2 years old, Layla is still thriving, doing all the things Jamie use to be able to do. But having gone through a decline once, Courtney and Mike have constant anxiety not knowing when Layla’s decline will come. Layla already has a gtube because a swallow study showed that she was aspirating.

2020 has been a big year of specialist appointments and a few hospital stays including, inpatient with Jamie for tracheostomy surgery as well as removing her submandibular salivary glands. This allows for easy access to secretions as well as a stable airway which allows Jamie to breathe so much easier, avoiding the need for a ventilator or supplemental oxygen.

Courtney and Nick never know what tomorrow brings for Jamie and Layla but they are committed to fighting to give the girls anything they could ever need and to live the most meaningful lives possible.

Alacan Girls
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Inaugural #4HLCN Working Meeting Summary

November 9 – 10, 2020

4H Leukodystrophy Collaboration Network Background

In 2020 the Yaya Foundation thoughtfully assembled and launched the 4H Leukodystrophy Collaboration Network, or #4HLCN, which comprises the world’s foremost experts in 4H as well as other experts in gene and cell therapy, proteomics, organoids and other fields of critical importance to the development of 4H therapeutics. Guided by our research director and scientific advisors, our goal is to work together to accelerate and advance therapy discovery.

Working Meeting Focus & Format

On November 9 – 10th, the inaugural #4HLCN meeting brought together patient representatives, investigators and their students from five North American and European countries, and the Yaya Foundation’s advisors, representing the academy, biotech industry and venture capital. The esteemed and diverse group illuminated many facets of 4H:

  • parents provided first-hand experience of the day-to-day life with 4H;
  • clinicians shared what is known about 4H and the current state of clinical investigation;
  • scientists presented the most recent findings on basic and applied research; and
  • our advisors used their expertise in therapy development to keep the focus on the fastest and most direct path towards our goal: treatments that will improve and lengthen the lives of people affected by 4H, and a cure.

The first day of the #4HLCN working meeting was dedicated to taking stock and sharing knowledge of 4H.

Three families shared what it means to be a parent of a child with 4HL: their diagnosis and journey, the challenges of providing care, the crushing emotional burden, and also how they rally support and find joy in the resilience of their children.

Presentations summarizing clinical findings and pathogenesis of 4H emphasized the breadth of the clinical spectrum and the gaps in understanding the molecular and cellular pathology. Gene replacement therapy and cell therapy could be two potential avenues towards a cure for 4H. Both of these strategies have been pursued for other leukodystrophies / CNS disorders and studies in relevant model systems as well as promising results from human trials were presented. We discussed how to apply the learnings from those results to finding a cure for 4H.

In the last session of the day we heard about ongoing 4H research projects, including proteomic studies of the RNA polymerase III complex, expression studies in iPSCs and results on animal model systems for 4H.

Based on these learnings, the #4HLCN spent the second day of the working meeting defining the most urgent scientific questions as well as what projects and specific experiments need to be performed to address them. Recurring themes included:

  • natural history studies;
  • biobanks;
  • suitable animal model systems; and
  • biomarker development.

The #4HLCN discussed strategies for short and long-term progress, how to prioritize work, and assembled the basic building blocks for a Roadmap To a Cure.

Working Meeting Key Messages

  • Collaboration and knowledge exchange is key for success.
  • Gene replacement therapy is currently most advanced toward the next milestone – proof of concept – and may progress towards the clinic within a five-year time frame.
  • Cell replacement therapy remains promising, but requires further research.
  • The lack of understanding of the molecular pathology and natural history of 4H are impeding progress; research addressing it is a high priority.