NA News - NA News Issue 40: Adrian Danek Webinar | Forums feature NA Research | Translators Needed | New NA Trustee | Social Media News | Trustees Meet Patients | Patient Art | Rare Disease Day '23 | NA Meeting Date http://newsletter.naadvocacy.org/ en-us 21 Nov 2022 09:46:04 GMT 21 Nov 2022 09:46:04 GMT http://newsletter.naadvocacy.org/rss.xml Newsweaver ginger@naadvocacy.org (The Advocacy for Neuroacanthocytosis Patients) support@newsweaver.ie (Newsweaver) 60 true TOP STORY http://newsletter.naadvocacy.org/64xgklqipzs?lang=en?rss=true Thank you for reading this 40th edition of NA News. We are pleased to share the exciting news of the latest research, as well as inform you of opportunities to be a part of the wider NA community conversation via our online Forums and upcoming in-person symposium in Homburg, Germany in September 2023. We also share our need for news articles and photos, for translators, for trustees, and for fundraising, and highlight our presence on social media. You can also catch up on patients around the world and more. Read on... -- Important and exciting recent developments in our understanding of bulk lipid transfer and NA syndromes were highlighted at the recent joint congress of German national societies (DGN) for neurology, neuropediatrics and neuropathology AKA "NeuroWeek. Read on... 29 Jun 2018 12:00:00 BST 7f4f6bb68a89195559404c6fb353998a Feature Article Kevin Peikert & Adrian Danek <p class="centered-only" style="text-align: center;"><img align="center" src="http://newsletter.naadvocacy.org/v2files/shard1/491/95/8ef6335ca00d80ca6f1d2d.jpg" style="margin: 0px;" width="650" height="211" hspace="0" vspace="0" alt="Kevin Peikert, Adrian Danek, and Ody Sibon discuss the conserved role of VPS13A at Berline NeuroWeek " /></p> <p class="centered-only"> </p> <p><strong>Thank you for reading this 40th edition</strong> of NA News. We are pleased to share the exciting news of the latest research, as well as inform you of opportunities to be a part of the wider NA community conversation via our online Forums and upcoming in-person symposium in Homburg, Germany in September 2023. We also share our need for news articles and photos, for translators, for trustees, and for fundraising, and highlight our presence on social media. You can also catch up on patients around the world and more. Read on...</p> <p> </p> <p>--</p> <p> </p> <p><strong>Important and exciting recent developments in our understanding of bulk lipid transfer and NA syndromes </strong>were highlighted at the recent joint congress of German national societies (DGN) for neurology, neuropediatrics and neuropathology AKA "NeuroWeek.  Read on...<strong><br /></strong></p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/9d/de980cd035a359501d7411.png" style="margin: 0px;" width="300" height="128" hspace="0" vspace="0" alt="Chairs Kevin Peikert (left) and Adrian Danek (middle) discuss with Bernhard Landwehrmeyer (right) who introduced VPS13 related research in relation to future insights into Huntington’s Disease. " />At the joint congress of the German national societies for neurology (DGN), neuropediatrics and neuropathology, with more than 5000 participants (November 1<sup>st</sup>-5<sup>th</sup>, 2022), we organized a 90 minutes symposium dedicated to VPS13 research. Nine speakers reviewed “Recent developments in bulk lipid transfer and the so-called ’neuroacanthocytosis’ syndromes”.</p> <p> </p> <p>Only quite recently, location and function of the members of a hitherto little-known protein family (VPS13 A through D) were unraveled. Located at contact sites of membranes of different cell organelles, these proteins act as conduits for non-vesicular lipid transfer. Deficiency of these proteins likely causes alterations of membrane lipid dynamics. The corresponding human genes lead to hereditary neurological disease, such as chorea-acanthocytosis (VPS13 A disease), Cohen syndrome (VPS13B disease), familial parkinsonism with Lewy bodies (VPS13C disease) or various ataxic conditions (VPS13D disease, earlier names: SCAR4, SCA24, or SCASI). Because of molecular interaction, the disease spectrum also involves McLeod syndrome (XK disease) and possibly other conditions.</p> <p> </p> <p>The presenter team consisted of senior and junior clinical and basic scientists. Bernhard Landwehrmeyer from Ulm University by introduction highlighted possible connections with Huntington’s Disease (HD). While we subsequently presented a bench to bedside and vice versa approach to VPS13A and XK disease, our invited speakers covered additional aspects of the lipid dynamics at membrane contact sites in neurodegenerative diseases (D. Großmann, Rostock), Cohen syndrome (W. Seifert, Berlin) as well as clinical spectrum and treatment by deep brain stimulation in VPS13D-associated disease (N. Brüggemann and M. Pauly, Lübeck). Current experimental work from the Rostock group was covered by A. Spranger who presented lipidomics data from VPS13A disease red blood cells. At the final day of “Neuroweek” our session was mentioned in the movement disorders highlights session (B. Balint, Zurich) because of the importance of a novel pathomechanism that eventually may translate to more prevalent diseases such as Parkinson´s disease and HD.</p> <p> </p> <p>We are grateful to the DGN scientific board for recognizing this future perspective by including our symposium in the program. The local audience, albeit small (approximately 50), was select and the hybrid format of the congress, including the availability of recordings, will allow for a much wider impact of our symposium.  </p> <p> </p> <p><strong><span style="font-size: 11px;">Article photo shows Chairs Kevin Peikert (left) and Adrian Danek (middle) discuss with Bernhard Landwehrmeyer (right) who introduced VPS13 related research in relation to future insights into Huntington’s Disease. </span></strong></p> Kevin Peikert, Adrian Danek, and Ody Sibon discuss the conserved role of VPS13A at Berline NeuroWeek Chairs Kevin Peikert (left) and Adrian Danek (middle) discuss with Bernhard Landwehrmeyer (right) who introduced VPS13 related research in relation to future insights into Huntington’s Disease. Adrian Danek Presents New Insights on NA Syndromes http://newsletter.naadvocacy.org/sc9rwnl8g6z?lang=en?rss=true Adrian Danek presented a highly instructive educational webinar on NA diseases on October 25, 2022. It is still available online. 26 Feb 2022 12:00:00 GMT 76f2fde13d593c9bce93ad7a95888d7b More News Adrian Danek <p><strong><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/18/938d28f6f8538dae619264.jpg" style="margin: 0px;" width="100" height="89" hspace="0" vspace="0" alt="" />Adrian Danek presented </strong>a highly instructive educational webinar on NA diseases on October 25, 2022. It is still available online.</p> <div class="form-group horizontal"> <div class="controls"><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/95/150f6302bc5cbeb0d1c421.jpg" style="margin: 0px;" width="300" height="226" hspace="0" vspace="0" alt="" /> <p>For a number of years now, the<strong> European Reference Networks for Rare Neurological Diseases</strong> (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN) have organized freely accessible educational webinars on topics within their scope of interest (<a href="http://newsletter.naadvocacy.org/1ssljeub7aa/external"><strong>https://www.ern-rnd.eu/education-training/webinars/</strong></a>). For the second time, Adrian Danek, University of Munich (LMU), Munich, Germany, was invited to review the diseases of interest for the NA community and to present the most recent insights. In late October, he spoke on “<strong>VPS13A and XK bulk lipid transfer diseases</strong> (formerly the now obsolete Levine-Critchley syndrome)”, giving a clinical review on the diseases as well as presenting the recent breakthrough concerning the final diagnosis of patients first encountered in the 1960s in Boston.</p> <p> </p> <p>Descendants of that family, originally studied by Irving Levine, had made contact with the NA patient advocacies and the group of researchers contributing to the GeneReviews® resource provided by the US National Center for Biotechnology Information (<a href="http://newsletter.naadvocacy.org/h8h1zvv67m4/external">https://www.ncbi.nlm.nih.gov/books/NBK1354</a>). It turned out that not only their family side branch carried a mutation in XK, the McLeod gene, but that also the index patient of Levine´s 1968 report was affected by exactly that condition. A quest of many years duration (see NA news issue 29 of 2017) was thus successfully completed (<a href="http://newsletter.naadvocacy.org/ox9kcxxfcyz/external">http://newsletter.naadvocacy.org/1ksy8liwtpm?a=2&p=52686232&t=16038454</a>).</p> <p> </p> <p>In summary, the further use of the term Levine-Critchley syndrome makes no sense, as the patients previously collected under this label have been proven to be affected by two distinct conditions: by VPS13A mutations in the case of Critchley´s Kentucky family (as shown in 2011) and by XK mutations in the New England family of Levine. Prof. Danek also pointed out why these two conditions are so similar and so easily mistaken for one another: most recent basic science research, including from his lab (Gabriel Miltenberger-Miltenyi in support of work in Aaron Neiman´s lab), demonstrated physical interaction of the two respective proteins, the scramblase XK and the lipid transfer “tube” VPS13A.</p> <p> </p> <p>Likewise, use of the term “neuroacanthocytosis” in a scientific context makes no longer any sense as - in addition to cases affected by XK or VPS13A disease - also patients suffering from PKAN (pantothenate kinase associated neurodegeneration) have historically been grouped under that label. For advocacy work the label might be retained, but its heterogeneity must be kept in mind if one proceeds to discuss the situation of the individuals affected by the various underlying conditions.</p> <p> </p> <p><strong>Prof. Danek´s ERN-RND webinar is still available for viewing</strong> on <a href="http://newsletter.naadvocacy.org/1jtqj8fqb7g/external" rel="noreferrer noopener"><strong>https://www.youtube.com/watch?v=INjEk4oc_mY</strong></a>, as is his previous presentation <a href="http://newsletter.naadvocacy.org/1iu8q56jcwj/external"><strong>https://www.youtube.com/watch?v=zbAIPsFhjms</strong></a> that covers more of the clinical information on the subject. His slides are available via <a href="http://newsletter.naadvocacy.org/iv037eezsds/external"><strong>https://www.ern-rnd.eu/education-training/past-webinars/</strong></a>.</p> </div> </div> Forums Feature the Latest Updates on Research http://newsletter.naadvocacy.org/1u2zrhn1tlb?lang=en?rss=true From Rostock, Germany, Kevin Peikert provides an update on recent VPS13 Zoom Forums and invites participation in Forum 10. 24 Feb 2022 12:00:00 GMT bb6e94ddd3b8692fd805382372d71bdd More News Summaries of Recent VPS13 Forums 8 and 9; Save the Date for Forum 10 Kevin Peikert, Joy Willard-Williford, and Mette Jolly <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/24/c6baa34b976773385568a3.jpg" style="margin: 0px;" width="100" height="100" hspace="0" vspace="0" alt="" /><strong>From Rostock, Germany, Kevin Peikert provides an update</strong> on recent VPS13 Zoom Forums and invites participation in Forum 10. </p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/f2/297831ef4b571e8d33a5f6.png" style="margin: 2px;" width="300" height="251" hspace="2" vspace="2" alt="" />The <strong>VPS13 Forum </strong>continues its now storied tradition of exchanging ideas and new developments in the field of neuroacanthocytosis and all aspects of the VPS13 protein family. The format helps us to keep the global discussion going in the time between the in-person meetings of the neuroacanthocytosis community, the next of which will be held in Homburg, Germany September 15-17, 2023. We continued with Forums number 8 and 9 on July 25th and September 26th respectively, and the <strong>next Forum, our 10th, will be held on Monday, November 28th. </strong></p> <p> </p> <p> </p> <p>The upcoming 10th Forum will include a <strong>question and answer session</strong>. This is a unique opportunity for patients, family members, carers, and clinicians to get answers from the most knowledgeable people in the field. The forum's success is highly dependent on questions being submitted in advance, so that our panel of experts will be better able to respond. Please don’t be shy. There are no dumb questions. On the contrary chances are others have been thinking about the same thing as you. By submitting questions you can help them as well as yourself.</p> <p> </p> <p> </p> <p>Our panel of experts include Adrian Danek, Andreas Hermann, Ginger Irvine, Hans Jung, Gabriel Miltenberger-Miltenyi, Alzbeta Mühlbäck, Kevin Peikert, Ruth H Walker, Cornelius Werner, and Joy Willard-Williford.</p> <p> </p> <p> </p> <p>We encourage patients, family members, and caregivers to submit medical questions prior to the meeting and to indicate if a translation from English into their mother tongue will be needed. <strong>Please submit your questions to: <a href="mailto:kevin.peikert@med.uni-rostock.de" target="_blank" rel="noopener"><strong>kevin.peikert@med.uni-rostock.de</strong></a>. </strong></p> <p> </p> <p>Additional topics included in this Forum will be </p> <p><strong>Dysphagia in rare movement disorders such as Huntington's disease</strong></p> <p>Cornelius Werner</p> <p>University of Aachen and Johanniter-Krankenhaus Stendal, Germany</p> <p> </p> <p><strong>Why we should get rid of the term neuroacanthocytosis – or shouldn´t we?</strong><br />Adrian Danek &  Ruth Walker</p> <p>Ludwig-Maximilians-Universität München, Germany & Mount Sinai School of Medicine, New York City, NY, USA </p> <p> </p> <p><strong>Details:</strong></p> <p> </p> <p><strong>Monday, November 28th, 2022</strong></p> <p>from <strong>2:00-4:00 pm CEST/UTC+1</strong> (Central European Time)</p> <p>from <strong>8:00-10:00 am EDT/UTC-5</strong> (Eastern Standard Time)</p> <p>from <strong>10:00-12:00 pm JST/UTC+9</strong> (Japan Standard Time)</p> <p> </p> <p><u>Zoom-link</u>:</p> <p><a href="http://newsletter.naadvocacy.org/1axbujcscot/external">https://uni-rostock-de.zoom.us/j/62806527413?pwd=ZXk0TG5vQ1M5dDA4WEFYVk5xV2RVQT09</a></p> <p><br />Meeting-ID: 628 0652 7413<br />Code: 676204</p> <p> </p> <p>In case you are not receiving these invitations by mail yet, please contact <a href="mailto:kevin.peikert@med.uni-rostock.de">kevin.peikert@med.uni-rostock.de</a> and you will be added to the mailing list. <strong> Let’s keep the conversation going! </strong></p> <p> </p> <p><strong>---</strong></p> <p> </p> <p>At the <strong>8</strong><strong><sup>th</sup></strong><strong> VPS13 forum </strong>held on July 25, <strong>Ruth Walker</strong> in New York shared news of the<strong> Neuropathology of Neuroacanthocytosis project</strong> at the Icahn School of Medicine, and also presented on <strong>Sleep Disorders in McLeod syndrome</strong>; <strong>Gabriel Miltenberger</strong> in Lisbon presented on <strong>Lipidomics of neuroacanthocytosis syndrome, and Adrian Danek </strong>in Munich shared his thoughts on the descriptor<strong> "Levine syndrome" as being obsolete. </strong></p> <p> </p> <p> </p> <p>Speakers at the <strong>9th VPS13 forum</strong> in September included <strong>Tim P. Levine</strong> of University College London Institute of Ophthalmology and <strong>LesleyJ. Bruce </strong>of the Bristol Institute for Transfusion Sciences, National Health Service Blood and Transplant. Tim Levine spoke on the topic "<strong>an evolutionary perspective on Chorein/VPS13A: from membrane contacts to lipid transfer bridges and the repeating beta groove. </strong>, while Lesley Bruce shared updates on <strong>red cell membrane in health and disease.</strong></p> <p> </p> <p> </p> Need for Translators http://newsletter.naadvocacy.org/nhv4xehdsl5?lang=en?rss=true The Advocacy is seeking translators to aid with NA News and other activities. 17 Nov 2022 12:00:00 GMT e05c02cd1acd5250f81e40dcf4b20016 More News Do you have translation skills? Joy Willard-Williford <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/b9/186d8e47135914ccf77d95.png" style="margin: 2px;" width="100" height="74" hspace="2" vspace="2" alt="" />The Advocacy is seeking translators to aid with NA News and other activities.</p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/40/90d82aa0469637dc3eadec.png" style="margin: 2px;" width="300" height="179" hspace="2" vspace="2" alt="" />Our patients are located all over the world, and so we can use some help with translations of NA News from English to other languages.  Help us reach more patients, doctors, and researchers. We are looking for French, German, Spanish, Italian...any language. If you can help us extend our reach to others, please contact Ginger Irvine at ginger@naadvocacy.org.</p> Charity Manager Attends Conference http://newsletter.naadvocacy.org/1lc0i4n11py?lang=en?rss=true The Advocacy's new charity manager reports on her October attendance at the Beacon Repurposing for Rare Diseases Conference. 18 Nov 2022 12:00:00 GMT a85d1bad03185139c50d95608a65c073 More News Mette Jolly attends Beacon Drug Repurposing for Rare Diseases Conference Mette Jolly <p>The Advocacy's new charity manager reports on her October attendance at the Beacon Repurposing for Rare Diseases Conference.<img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/0c/816f71cb65f31e93833ffa.jpg" style="margin: 2px;" width="100" height="85" hspace="2" vspace="2" alt="" /></p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/9d/2e08ecd68cd4df80fbc678.jpg" style="margin: 2px;" width="300" height="262" hspace="2" vspace="2" alt="Tower of London" />On Monday 10<sup>th</sup> October Mette was pleased to attend the Beacon Drug Repurposing for Rare Diseases Conference at America Square near the Tower of London.</p> <p> </p> <p> </p> <p>Drug repurposing is the process of identifying new uses for medicines that are outside of the scope of their existing licence, in other words taking an existing drug and using it to treat a different disease from the one it was originally developed to target. Drug repurposing can contribute to lowering the costs and accelerating the development of rare disease treatments.</p> <p> </p> <p> </p> <p>At the meeting in London, 150 delegates from advocacy groups, bio science companies, academia and umbrella organisations gathered to exchange research and experiences. Expert speakers from the UK and beyond highlighted major projects driving repurposing across the UK and Europe.</p> <p> </p> <p> </p> <p>Presentations also included patient stories and the introduction of new resources (see links below) A particular highlight was an example of a patient group working with scientists and a non-profit biosciences company on recruiting for a clinical trial.</p> <p> </p> <p> </p> <p>The overall conclusion of the day was positive with consensus being that drug repurposing, which has had a difficult start, is becoming increasingly mainstream.</p> <p> </p> <p> </p> <p><a href="http://newsletter.naadvocacy.org/5ltg0zueaow/external" target="_blank" rel="noopener">https://www.rarebeacon.org/</a></p> <p><a href="http://newsletter.naadvocacy.org/ui8gs20ubqh/external" target="_blank" rel="noopener">https://eatris.eu/projects/remedi4all-building-a-sustainable-european-innovation-platform-to-enhance-the-repurposing-of-medicines-for-all/</a></p> Tower of London The NA Advocacy USA Welcomes New Trustee http://newsletter.naadvocacy.org/1xgzofi690c?lang=en?rss=true Neuroacanthocytosis Advocacy USA, Inc. is pleased to welcome Julie Kerner to our Board of Directors. Julie's considerable experience and knowledge of drug development from research to commercial launch, especially in the arenas of Neurology, Hematology, and orphan diseases, position her to offer a unique contribution to the board. 26 Feb 2022 12:00:00 GMT 87a0b300f3a465a2461264947f60ea83 More News Additional Trustees Still Needed Joy Willard-Williford <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/16/4ae92ef490f8788ea487ee.jpg" style="margin: 2px;" width="100" height="102" hspace="2" vspace="2" alt="Julie Kerner" /><strong>Neuroacanthocytosis Advocacy USA, Inc.</strong> is pleased to welcome<strong> Julie Kerner</strong> to our Board of Directors. Julie's considerable experience and knowledge of drug development from research to commercial launch, especially in the arenas of Neurology, Hematology, and orphan diseases, position her to offer a unique contribution to the board. </p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/d0/05dc2f1785a01a029af843.jpg" style="margin: 2px;" width="300" height="305" hspace="2" vspace="2" alt="" /><strong>Julie Kerner </strong>is the founder and lead consultant at Kerner Solutions LLC. Under her leadership, companies create portfolio and platform strategies, develop countless therapeutic programs, and launched multiple therapies. Previously, Julie worked at Fulcrum Therapeutics and Aliada Therapeutics where she developed R&D long range plans and drove organizational change. Prior to that, she worked at AVROBIO and Wave Life Sciences where she implemented organizational excellence initiatives and oversaw creation of an emerging Ophthalmology therapeutic area. Julie’s first industry position was at Biogen where she started the R&D strategy group, worked in global marketing and New Product Planning group.</p> <p> </p> <p>Over her career, Julie has discovered a love for strategic planning and building from the ground up. She is committed to patient centricity and advocacy, sitting on the boards of Newton Wellesley Hospital, National Braille Press, as well as Neuroacanthocytosis Advocacy USA. Julie has a BS in BioPsychology from Tufts University and a PhD in Neuroscience from the Sackler School of Graduate Medical Sciences, Tufts Medical School in Boston, Massachusetts.</p> <p> </p> <p style="text-align: left;"><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/8d/f2c308ad8637c387eed181.jpeg" style="margin: 0px;" width="300" height="198" hspace="0" vspace="0" alt="" />While welcoming Dr. Kerner, both <strong>The Advocacy for NA Patients</strong> and <strong>Neuroacanthocytosis Advocacy USA </strong>continue to cast the net for additional trustees. These important individuals work together to accomplish the goals of their respective organizations. Both NA Advocacy, based in London, and NA-USA based in Florida, are looking for a few good individuals with a heart for finding a cure for VPS13A and McLeod syndrome and for supporting individuals with these disorders, and their families. </p> <p> </p> <p>At its most basic, to truly be an effective nonprofit trustee or board member requires having good character, a strong commitment to the cause, the gift of time, and a willingness to use personal and professional resources to advance the organization's mission.  If you would like to learn more about the role of a trustee/board member with NA Advocacy, please contact Ginger Irvine at <a href="mailto:ginger@naadvocacy.org"><strong>ginger@naadvocacy.org</strong></a>. For information on NA-USA, please contact Susan Wagner at <strong><a href="mailto:susan@naadvocacyusa.org"><strong>susan@naadvocacyusa.org</strong></a></strong> or Joy Willard-Williford at <strong><a href="mailto:joy@naadvocacyusa.org"><strong>joy@naadvocacyusa.org</strong></a></strong>.</p> <p> </p> Nicola Keat Social Media News http://newsletter.naadvocacy.org/16uncuab901?lang=en?rss=true Mette Jolly, Charity Manager for The Advocacy, announces new Twitter and Instagram accounts for the organization, while NA-USA board member Joy Willard-Williford shares an easy way to raise funds via Facebook. 01 Nov 2020 12:00:00 GMT 2bcca8b1aacdfbf557e1b74fb8d926b9 More News New Twitter and Instagram Accounts for The Advocacy/Fundraising Made Easy Mette Jolly & Joy Willard-Williford <p><strong><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/75/6318ef87a2669850d9df1e.jpg" style="margin: 2px;" width="100" height="100" hspace="2" vspace="2" alt="" />Mette Jolly, </strong>Charity Manager for The Advocacy, announces new Twitter and Instagram accounts for the organization, while NA-USA board member <strong>Joy Willard-Williford</strong> shares an easy way to raise funds via Facebook.</p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/37/6d0994ccfcfb04fcf04090.jpg" style="margin: 2px;" width="300" height="300" hspace="2" vspace="2" alt="View of Royal Albert Hall, Kensington Gardens" />The Advocacy is excited to announce that we have set up <strong>new accounts on both Instagram and Twitter</strong>.</p> <p> </p> <p>On our Instagram account, we post news from the Advocacy and photos taken near our office in Central London such as this lovely shot from Kensington Gardens (spot the Royal Albert Hall between the leaves). On Instagram we hope to meet new friends and spread the message about NA.</p> <p> </p> <p>If you have a high-resolution image from your hometown or somewhere you’ve visited, you can send it to us accompanied by a few words describing the place or activity it depicts and we will share it with our followers, giving you credit, of course!</p> <p> </p> <p>Link: https://www.instagram.com/na_advocacy/</p> <p> </p> <p> </p> <p>On Twitter we hope to pick up news from the global rare disease community, connect with other advocacies and share newly published research.</p> <p> </p> <p>Link: https://twitter.com/NA_Advocacy</p> <p> </p> <p>Please give us a follow and encourage your friends and family to follow us too.</p> <p> </p> <p> </p> <p>---</p> <p> </p> <div class="xw7yly9 x1yztbdb"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1603h9y x1u7k74 x1xlr1w8 xzsf02u"><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/d9/fcb8a636ef9b1864d87df5.png" style="margin: 2px;" width="300" height="300" hspace="2" vspace="2" alt="" /><strong>If you have a Facebook account, there is a very easy way to raise funds for either The Advocacy or for NA-USA</strong>. It is often most successfully done in conjunction with a birthday or anniversary celebration, but can be initiated anytime. To create a nonprofit fundraiser simply... </span></div> <p> </p> <ul> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u">On your computer, login to <a class="x1i10hfl xjbqb8w x6umtig x1b1mbwd xaqea5y xav7gou x9f619 x1ypdohk xt0psk2 xe8uvvx xdj266r x11i5rnm xat24cr x1mh8g0r xexx8yu x4uap5 x18d9i69 xkhd6sd x16tdsg8 x1hl2dhg xggy1nq x1a2a7pz xt0b8zv x1qq9wsj xo1l8bm" tabindex="0" role="link" href="http://newsletter.naadvocacy.org/16vvmmh62ij/external">Facebook</a>.</span></li> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u">On the upper right hand corner, click the <strong> Menu </strong>icon. One of the options under <strong>Create</strong> is <strong>Fundraiser. </strong>Select and click.<br /></span></li> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u">The "Choose a Nonprofit" box will appear. </span><br /> <ul class="x122qnep xs6hwqx x1ye3gou"> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u">Type into the search bar to find the nonprofit you want to raise money for, either </span> <ul class="x122qnep xs6hwqx x1ye3gou"> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u"><strong>Advocacy for Neuroacanthocytosis Patients</strong> or </span></li> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u"><strong>Neuroacanthocytosis Advocacy USA Incorporated<br /></strong></span></li> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"> </li> </ul> </li> </ul> </li> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u">Select the nonprofit.</span></li> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u">Follow the prompts on the left, enter:</span><br /> <ul class="x122qnep xs6hwqx x1ye3gou"> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u">The goal amount of money you want to raise</span></li> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q"><span class="x193iq5w xeuugli x13faqbe x1vvkbs x1xmvt09 x1lkfr7t x1lbecb7 xo1l8bm xzsf02u">The currency you want the funds to be in</span></li> </ul> </li> </ul> <ul> <li class="x1vvkbs x1sxyh0 xmn8rco x1yztbdb x1h5jrl4 xw7yly9 x1ocl44q">Click <strong>Create </strong></li> </ul> <p> </p> <p> </p> <p> </p> Drs. Adrian Danek and Ruth Walker Trustees Meet Patients Around the World http://newsletter.naadvocacy.org/qkn3f7kngjf?lang=en?rss=true Candi DiMarzio, a board member of NA-USA, files this report on her visit to ChAc patient Mike Koutis in Canada. 25 Jun 2018 12:00:00 BST 6b2c697cd577064e6958e5048399fef8 More News Travel plans include visits to patients and their families Candi DiMarzio and Joy Willard-Williford <p style="text-align: left;"><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/8c/ea442bc7e4845bd723d67c.jpg" style="margin: 2px;" width="100" height="91" hspace="2" vspace="2" alt="" /><strong>Candi DiMarzio</strong>, a board member of NA-USA, files this report on her visit to ChAc patient Mike Koutis in Canada.</p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/54/62f895c4615f4703d80de8.jpg" style="margin: 2px;" width="300" height="287" hspace="2" vspace="2" alt="" />Mike Koutis befriended me on Facebook over 5 years ago. Somehow through the grapevine someone gave Mike my name. The rest is history.</p> <p> </p> <p> </p> <p>Mike has a hard time sleeping and so do I. I would get an alert that I received a message on my phone anytime from midnight on and it would be Mike. We would chat for an hour or so. After a year or so Mike said he would like to have his friend message me if that was ok. He said “you will love her.” That friend was Kristy Santangelo Mohr.</p> <p> </p> <p>Soon after interacting with Kristy, Mike went into cardiac arrest and was unresponsive. Kristy notified me right away to tell me about Mike. He was in ICU for about 2 weeks. During those 2 weeks Kristy was Mike’s patient advocate. She was so effective that now everyone that knows Mike knows Kristy. I started sending Mike a card every week after he got back to the nursing home and that has continued for over 4 years. </p> <p>Kristy would call me on Messenger when she was visiting Mike and we got to communicate.</p> <p> </p> <p> </p> <p>Soon after my daughter Heidi passed away Mike’s brother Kerry passed away from ChAc. I asked Mike what his mothers name and address was because I wanted to send her a card. Soon after Mrs. Koutis received my card she called me. Our friendship started to build from there.</p> <p> </p> <p>I kept telling Mike that someday I was coming  to Canada to personally meet him. Then COVID came. In the summer of 2021 the border was reopened between the US and Canada. My only prerequisite was I had to come in the summer as I could not manage the frigid Canadian winter. My trip was planned to go to Winnipeg, Manitoba Canada on July 20th, 2022. When I landed in Winnipeg I thought to myself this is going to be odd not ever meeting Kristy. I was getting my luggage and turned around and there stood Kristy. She was everything I thought she would be and more.</p> <p> </p> <p> </p> <p>Walking into Mike’s nursing home room was a moment I will never ever forget. We both started crying and held onto each other tightly. While I was there Kristy asked me if there was anything in particular I would like to do after seeing Mike. I told her I wanted to meet her family, her mother and Mike’s mother. I wanted to be sure to let her mother know what a terrific daughter she raised. Needless to say my goodbye was very very difficult.</p> <p> </p> <p> </p> <p>Mike was everything I thought he would be and more. I hope to be able to go see Mike again. Mike and Kristy are now family. This was a vacation I will never ever forget.</p> <p> </p> <p> </p> <p>Candi wasn't the only board member on the move. <strong>Check out our gallery below </strong>for more adventures in travel for patients and trustees.</p> Mike Koutis and Candi DiMarzio Candi DiMarzio and Kristy Santangelo Mohr with Mike Koutis Patient Shares Artwork http://newsletter.naadvocacy.org/mwzro4ikqqy?lang=en?rss=true Alex Irvine loves cats. She is also an accomplished artist. Click on to see her lovely watercolor contribution to NA News. 13 Nov 2018 12:00:00 GMT 343583963556243ef641dfdb51127a43 More News Alex Irvine, lover of all things cat Alex Irvine <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/66/4570fbadeb21492dffc688.jpg" style="margin: 2px;" width="100" height="135" hspace="2" vspace="2" alt="Alex Irvine" />Alex Irvine loves cats. She is also an accomplished artist. Click on to see her lovely watercolor contribution to NA News.</p> <p> </p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/6c/f057dd617f1718411a9f45.jpeg" style="margin: 2px;" width="300" height="220" hspace="2" vspace="2" alt="" />Check out Alex Irvine's lovely watercolor of her cat, Coco. Her love of this cat is evident.</p> <p> </p> <p>NA News is seeking artwork, news of activities, and photos for its upcoming issues. We love love love to share your stories and gifts with the wider NA world!</p> <p class="centered-only" style="text-align: left;"> </p> <p class="centered-only" style="text-align: left;">Send articles, photos, and artwork to joy@naadvocacyusa.org.</p> <p><strong> </strong></p> <p> </p> <p> </p> <p> </p> <p> </p> <p> </p> <p><strong> </strong></p> Alex Irvine' watercolor of a black cat Rare Disease Day 2023 http://newsletter.naadvocacy.org/ucrfo7lphb1?lang=en?rss=true Rare Disease Day 2023 is right around the corner. Check out plans for this special day being made by Jennifer Irvine, and be thinking how you might use this day to highlight the need for research funding for and awareness of NA diseases. 17 Nov 2022 12:00:00 GMT 14fb1301a65fa0d3b97b3f4b90900474 More News Plans formulating for Rare Disease Day in February Mette Jolly <p><strong><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/b4/57cfeb99f027dbd004edcf.jpg" style="margin: 2px;" width="100" height="93" hspace="2" vspace="2" alt="" />Rare Disease Day 2023</strong> is right around the corner. Check out plans for this special day being made by Jennifer Irvine, and be thinking how you might use this day to highlight the need for research funding for and awareness of NA diseases.</p> <p><strong><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/99/cbc3b4208fcc6255471a71.jpg" style="margin: 2px;" width="300" height="225" hspace="2" vspace="2" alt="Waterlink Way - Pipe Bridge over the Pool River" />Please add Rare Disease Day, 28th February 2023, to your diaries</strong>.  </p> <p> </p> <p>In London, Jennifer Irvine will take part in a sponsored walk along the Waterlink Way with a group of her friends.</p> <p> </p> <p>The Waterlink Way is a walking and cycling route between Greenwich and Beckenham that follows the Ravensbourne river, connecting a number of parks and green spaces in South East London, including Ladywell Fields and Brookmill Park. The eight mile route was designed to be accessible, with a large number of railway stations including Kent House, Lower Sydenham, Ladywell, Lewisham and Greenwich en route.</p> <p> </p> <p>We will also hold a coffee morning at the Advocacy.</p> <p> </p> <p>Have a look at the Rare Disease Day website to learn how people marked Rare Disease Day around the world in 2022. You can download logos and posters to help you advertise your event.</p> <p> </p> <p>Link: <a title="Rare Disease Day website" href="http://newsletter.naadvocacy.org/1kobgfc171r/external" target="_blank" rel="noreferrer noopener">https://www.rarediseaseday.org/</a></p> Scene from Waterlink Way - Pipe Bridge over the Pool River Save the Date - Upcoming 11th International Meeting on Neuroacanthocytosis Syndromes http://newsletter.naadvocacy.org/165mxzzkync?lang=en?rss=true Grab your calendars! You won't want to miss the 11th International Meeting on Neuroacanthocytosis Syndromes in Homburg, Germany, September 15-17, 2023, organized and chaired by Lars Kaestner of the Saarland University. 01 Nov 2020 12:00:00 GMT abc9a198ea89e5cb108166dde73225e6 More News Kevin Peikert and Lars Kaestner <p><strong><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/f9/a4447bd384cbc2e7d1deea.jpg" style="margin: 0px;" width="100" height="115" hspace="0" vspace="0" alt="Prof. Lars Kaestner" />Grab your calendars! </strong>You won't want to miss the 11th International Meeting on Neuroacanthocytosis Syndromes in Homburg, Germany, <strong>September 15-17, 2023</strong>, organized and chaired by <strong>Lars Kaestner </strong>of the Saarland University.</p> <p><img align="right" src="http://newsletter.naadvocacy.org/v2files/shard1/491/9e/6a7a0d47b2eaa87478fd2b.png" style="margin: 0px;" width="300" height="199" hspace="0" vspace="0" alt="Meeting venue: University of Saarland campus in Homburg, Germany" />As an international community of clinicians, scientists, and families dealing with chorea-acanthocytosis (VPS13A disease) or McLeod syndrome (XK disease), respectively, we had enjoyed the virtual “Barcelona” symposium in 2021.</p> <p> </p> <p>But now, it is urgently time to meet again in person! To continue our conversation at “on-site” meetings, the last of which was held in Dresden, Germany <u>more than four years (!)</u> ago, we are pleased to announce that we are currently planning the <strong>11<sup>th</sup> International Meeting on Neuroacanthocytosis Syndromes</strong> as an in-person meeting at the Saarland University in <strong>Homburg, Germany, September 15 - 17, 2023.</strong></p> <p> </p> <p>The symposium will be organized and chaired by <strong>Prof. Lars Kaestner</strong>. More details will follow soon.</p> Meeting venue: University of Saarland campus in Homburg, Germany