To all our supporters, we at the Advocacy wish to express our deepest gratitude for the generosity that you have shown over the years. Your donations are indispensable in supporting efforts to raise awareness about neuroacanthocytosis, advance scientific research for answers to this highly impactful group of rare diseases and assure the sustainability of the charity. 

2019 has been a special year for the Advocacy. Thanks to your donations and the gift of Carl and Betty Pforzheimer, we are able to announce the first winner of the Glenn Irvine Prize as well as move forward with the funding of research for critical VPS13A genetic mutations, the chorein Western Blot service and the NA database.

The Advisory Board of the Advocacy for Neuroacanthocytosis Patients is pleased to announce the first winner of the Glenn Irvine Prize is Dr. Jae-Sook Park from Dr. Aaron Neiman’s lab at Stony Brook, Long Island, NY, USA. Dr. Park helped to establish the current model of VPS13 as a contact site protein and reported the first potential link between mitochondrial dysfunction and chorea-acanthocytosis.

The campaign for Rare Disease Day 2020 is now underway! The Rare Disease Day team at EURORDIS is building the campaign around ‘Reframe Rare’ – reframing what it means to be ‘rare’ to show that rare is many, rare is strong, rare is proud.

We are pleased to announce the founding of Neuroacanthocytosis Advocacy USA, Inc., a newly designated nonprofit organization dedicated to providing support to patients - and family and carers of patients - with neuroacanthocytosis-related diseases.

Many important advances in understanding brain diseases have been made by studying the brains of those affected. While imaging studies (MRIs and other types of brain scans) can give us important information about the brain during life, the examination of the brain tissue down the microscope after death can give us even more valuable information. These sorts of studies have led to major progress in brain diseases such as Parkinson’s and Alzheimer’s diseases, and are crucial in NA. 

The Advocacy is delighted to welcome Dr. Peter Mills and Millie Leigh-Wood to our Board of Directors. We extend a very warm welcome and thanks to Peter and Millie for joining our Board. Read on for more details about each of our new Board members.

Learn about the recent progress of NA researchers around the world who are investigating the causes, mechanisms and pathology of the NA group of diseases. 

Within the educational programme of the European Reference Network-Rare Neurological Diseases (ERN-RD) a webinar on Neuroacanthocytosis syndromes took place on 3 December. Adrian Danek from Ludwig-Maximilians-Universität in Munich, Germany, presented an overview mainly of Chorea-Acanthocytosis and of McLeod syndrome. His presentation is now available.

In this edition of NA News, patient Drew Smith reports on the positive outcome he has experienced following his deep brain stimulation (DBS) surgery. The videos of him performing various athletic activities are indeed impressive! His situation has also been recently reported in the medical literature (Richard et al, Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738267/ . 2019 May-Aug; 11(2): 199–204).

It is important for everyone affected by neuroacanthocytosis to be aware that the benefits which Drew has experienced are most likely due to a number of specific factors, and may not apply to other people affected by chorea-acanthocytosis or McLeod syndrome.

We were delighted to receive the news from Kevin Peikert in Rostock, Germany about their new website.

"We have just set up a Neuroacanthocytosis website for our new outpatient clinic," Kevin writes. "It features information about NA and NBIA with various subdivisions; the first page introduces their specialist consultations and there are other pages relevant to the two illness groups generally, sometimes in connection with specific mentions of the Rostock facility."

You can find the website here or click the image above.

We have heard very recently from Gill and Gordon Parry in north Wales who have again produced impressive funds for the Advocacy. Gill wrote:

"I wanted you to know that we had a Craft Fayre in the local Tithe Barn and we had the best sale of work yet. We took £1,119 in a few hours. We still can't believe it. The preparation is quite challenging but it has been so worthwhile. Local support is tremendous.”

Thank you once again Gill and Gordon!

On July 13, 2019, Tracy Ghoris from Ohio held a benefit concert and basket raffle at Mount de Chantal Conservatory of Music at Wheeling University, West Virginia, raising $1,043.00 USD for Neuroacanthocytosis research. A good time was had by all. 

Read a selection of updates from NA patients around the world.

We were sad to receive news of the death of NA patient Heidi Nicole DiMarzio. Her family sent us this tribute:

Heidi was born on November 14, 1978 to Vince and Candi DiMarzio. She attended Shenandoah University, James Madison University, and Northern Virginia Community College, where she was chosen to intern at the United States Capitol for West Virginia Congressman Alan Mollohan. At JMU, she was a member of the Catholic Church and was a Eucharistic Minister, and became secretary of the JMU College Democrats. Her passion for politics is what drove her to earn a Bachelor of Science in Political Science and she graduated in 2002.