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Touchdown Has Special Meaning for Two Young Rutgers Football Fans Battling Muscular Dystrophy

Dan Duggan

Matt DeRiggi and Danny Garofalo will never run again.

Matt, 16, and Danny, 11, are both confined to wheelchairs due to Duchenne muscular dystrophy (DMD), a rare and particularly cruel disease that almost exclusively afflicts young boys.

ImageDMD, which affects approximately 13,000 American boys, progressively breaks down the muscles. Eventually, the disease weakens the heart and lungs. The life expectancy is the mid-20s.

Matt and Danny were diagnosed with DMD at an early age and have been in wheelchairs for the past three years. Their condition has not dampened their passion for sports, especially Rutgers football.

They regularly attend Rutgers practices, but they experienced a first on Saturday. They joined the Rutgers players on the High Point Solutions Stadium field, where Matt took a handoff from quarterback Gary Nova and Danny came around for a reverse. Danny took the ball and followed a wall of blockers to reach the end zone where he was mobbed by the entire team (watch the video below).

“He loved it,” said Danny’s father, Dan. “That’s what makes it all worth it. As small as something like that seems, it really is a big difference.”

A SPECIAL BOND WITH RUTGERS FOOTBALL

Tom and Barbara DeRiggi weren’t overly concerned when the youngest of their three children didn’t begin walking until he was about 2 years old. But over time, it became clear that something wasn’t right with Matt’s muscular development and, after a lengthy process, he was diagnosed with DMD when he was 6.

Matt, a Toms River native, grew up around sports. Tom coached youth basketball for years and Matt was a fixture on the bench. He had the same spot on the Toms River North High bench for a few years beginning at age 8.

“Matty was telling some of my former players things to do,” Tom said. “He says little things, ‘Dad, he should have done this.’ “

Matt’s connection to Rutgers football began seven years ago when a mutual friend introduced the family to Kevin Malast, then a junior linebacker. Malast, who is from neighboring Manchester, came to visit Matt and brought his Rutgers jersey.

Before long, Matt was a regular at Rutgers’ practices. He became close with a number of players and then-coach Greg Schiano, and they remain in contact.

Every summer, the DeRiggis take a road trip to NFL training camps to catch up with former Rutgers players. Last summer, their three-week tour began in Cincinnati, where they visited wide receiver Mohamed Sanu and watched Toms River product and Rutgers alum Todd Frazier play for the Reds. Then they went to Chicago to visit linebacker Khaseem Greene, and the trip ended with five days in Tampa, where they reunited with Schiano and a handful of former Rutgers players on the Buccaneers.

“When we go out there, the kids love seeing Matty,” Tom said. “They spoil him a little bit. We take the big van and we just go on a road trip. It’s a special time for him so that’s why we try to do it.”

Matt was able to walk until he fell and broke his hip shortly before his 13th birthday. He’s been in a wheelchair since, but that didn’t stop him from scoring a touchdown in a Toms River North freshman game last fall.

Matt was a member of the team all season, sitting on the sideline in his wheelchair alongside his teammates. In the final game of the season, Matt came onto the field and took a handoff from the 10-yard line. He wheeled into the end zone, much to the delight of the crowd, which included Malast.

“They have a very special bond,” Tom said.

The DeRiggis’ relationship with Rutgers continued when Kyle Flood succeeded Schiano in 2012. They have season tickets and Matt and Tom are on the sidelines before every game.

“We just enjoy the moment,” Tom said. “He just loves being around sports. I think that’s his medicine beyond the other things he has to take.”

WELCOMED INTO THE RUTGERS FAMILY

Danny Garofalo and Kyle Flood’s oldest son share the same birthday and have been friends since kindergarten. Danny already had been diagnosed with DMD at that point and by the time he was 8, he was using his wheelchair full-time.

Like Matt, sports have been a form of therapy for Danny. He couldn’t play a full game, but he stayed involved with Little League, hitting from a tee. When he could no longer do that, he began announcing his brother’s games.

“He doesn’t want to shy away from it all,” Dan said. “If other kids are playing basketball, he can’t do it, but he’s happy to be a part of it and watching them out there.”

Technology helps fuel Danny’s love of sports. All of the stats and information about his beloved Yankees are at the tips of his fingers.

“He could tell you more stats about the Yanks and where they all came from and who their parents are,” Dan said.

When Flood was an assistant, the Garofalos had an open invitation to practices. They’ve become more regular visitors since Flood became head coach.

“We’re good friends with Kyle and he’s really been good to Danny all along,” Dan said. “It really is an extended family. They make them feel very welcome. Danny’s always had a liking for sports and Rutgers being close and obviously Kyle being who he is, he just loves to be a part of it.”

THE MEMORY OF A LIFETIME

The DeRiggis and Garofalos met last year at a Rutgers game. The families instantly bonded over the shared experience of their battle with DMD.

The DeRiggis planned to go to Saturday’s practice so Tom invited the Garofalos to join them. In all of the Rutgers’ practices they had attended, the boys had never been asked to run a play. But Flood drew up the reverse and Matt and Danny took the field at the end of Saturday’s practice.

There was a brief pause as Matt and Danny met at the 25-yard line for the handoff, and Matt joked that they had bad ball security.

“There was a little point there where it paused because, obviously, it’s not easy holding a ball or even handing off a ball,” Dan said. “Then Danny came across to the corner of the end zone. They all huddled around him after and that was great.”

The Rutgers players were as excited as Matt and Danny, celebrating with them in the end zone.

“Those two guys are special guys in our program,” Flood said. “To have them both out here, I thought we could try to create a good experience for them and a good experience for our players. It was fun to see them out there run the reverse.”

It was the type of moment that balances out some of their tougher days. While DMD presents many challenges, the DeRiggis and Garofalos are determined to give their sons as many memorable experiences as possible.

“If there’s not a lot of time for him to be a kid, we want to make the best out of that time,” Dan said. “They want to do everything that everyone else can do, they just have to do it differently. If that means you pick them up and you carry them when you go somewhere, you can still get wherever you want.”

Thanks to the Rutgers football team, Matt and Danny have a memory that will last the rest of their lives.

“The mind is the last thing to go with these kids,” DeRiggi said. “The mind is always there. Everything else breaks down over time, as of now with the way the illness is, but the mind is pure right to the bitter end. Our focus with him is just to enjoy his life and have balance because we don’t know what’s going to happen tomorrow.”

For more information about Duchenne muscular dystrophy, visit parentprojectmd.org.

Source: NJ.com

Paralysed by His Favourite SWEETS: Grandfather Who Ate Too Many Liquorice Allsorts Develops Rare Nerve Condition Which Left Him Unable to Move

Anna Hodgekiss

A grandfather who got an upset stomach after eating too many of his favourite sweets developed Imagea rare nerve condition that left him paralysed. 

Keith Ballantine was struck down with Guillain-Barre Syndrome after consuming too many liquorice allsorts – which gave him an upset stomach. 

Doctors believe the antibodies he produced to fight the upset stomach caused his body to react badly – and Mr Ballantine, from Worcester, then developed the deadly nerve disease.

Within weeks, he was completely paralysed – and only now, a year later, has he managed to relearn to walk again.

The 68-year-old said: ‘I ate a whole packet of liquorice allsorts in one sitting – they were always my favourite treat.

‘I ended up having a bit of an upset tummy, and a week later, I was struggling to get out of bed.

‘It’s been an absolute nightmare. I lost three stone in a month and it’s taken me a year to start walking again.’

He first noticed something was wrong shortly after eating the sweets when he couldn’t turn the ignition in his car.

‘My thumb felt weak but I brushed it off as old age  – just as I did when I lost the feeling in my feet.’

After struggling to get out of bed the following week , his wife Jennifer, 64, took him to their GP in September 2012.

His condition deteriorated rapidly as he lost feeling in almost all of his body and he was admitted to hospital while doctors frantically tried to diagnose his mystery illness.

It was only when a doctor asked him whether he had had been unwell in the previous weeks and he remembered his stomach bug that he realised GBS was a possibility.

As a former nurse, he was aware of the symptoms and knew the seriousness of the situation.

GBS usually occurs when antibodies produced by the immune system to fight an infection also start attacking the nervous system.

Although it only affects one in every 40,000 people, sufferers normally lose mobility and spend months in rehabilitation relearning to use their limbs.

Consultant Neurologist Dr John Winer is an expert on GBS and how it develops. He said: ‘In 75 per cent of cases of GBS there is a history of infection and that can be caused by either bacteria or a virus.

‘We can identify which infection GBS developed from in half of all cases, but we don’t understand it completely and in a large number of cases, the cause of the GBS is unclear.

‘There are hundreds and hundreds of infections which are incriminated as triggers although some are more likely than others.’

Caroline Morrice, director of the Guillain-Barré support charity, Gain, said: “This is a matter of much research and the causes of GBS just aren’t always known.

‘However it definitely could have been related to these liquorice allsorts.

“But it’s like all rare illnesses – we need to do more research to help people such as Keith.’

After his three month stint in Worcester Royal Hospital, Keith left hospital in December still in a wheelchair.

It was another four months before he could take his first steps unaided thanks to a painful course of physiotherapy and he now tries to walk a mile a day.

Amazingly, Keith has made an almost complete full recovery and has just begun driving again.

He said: ‘Although I’m not the man I was, there’s no point crying “why me?”. I’ve just been very unlucky.

‘If you’d asked me two years ago which, of all the illnesses I could get, which one would scare me most, I would have said GBS.

‘There’s something about this illness, it’s so horrible – I really feared it. I’m just so thankful that my family have been there to support me through my recovery.’

Source: Daily Mail

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Muscular Dystrophy Campaign Secures Campaigning Success on Rare Disease Drugs

The Government’s announcement today that an Early Access to Medicines scheme is to be brought forward follows a year of campaigning on this issue by the Muscular Dystrophy Campaign and patients and their families.

In February 2013, the All Party Parliamentary Group (APPG) for Muscular Dystrophy, supported by the Muscular Dystrophy Campaign, began an inquiry into ‘access to high-cost drugs for rare diseases’. The APPG set out to explore the challenges and barriers that may prevent access to potential future treatments for muscular dystrophy and other rare diseases.

Over four evidence sessions, the APPG heard from parents of children with a muscle-wasting condition, practising clinicians, pharmaceutical companies, as well as the National Institute for Health and Care Excellence (NICE) and the NHS.

The report was launched in Parliament September 2013, and revealed that while potential treatments are finally in clinical trials, parents fear that the “race against time” for their children to be treated may be lost owing to unnecessary delays, funding issues and bureaucracy.

Unfortunately there are currently no potential treatments which can be fast-tracked via this scheme, but the pipeline for ground breaking potential treatments for rare diseases is set to grow and we now look forward to working with the Government to ensure that patients affected by these conditions do not lose out should treatments reach the market.

In a moving statement, a parent of a child with a rare muscle-wasting condition told MPs and Peers:

Time is running out. Please help me and my family – every day I witness my son struggle and every day we live in fear of the future”.

This underlined the urgency of the situation facing many families and the APPG’s report made a number of recommendations on how access to treatments could be sped up. Central to this was the introduction of an Earlier Access to Medicines Scheme.  Key recommendations read:

 ‘In order for the Government to fulfil its commitment to ‘creating a more progressive environment that supports and promotes innovation with a view to providing faster access to new medicines for patients’, we recommend that it bring forward the Early Access to Medicines Scheme. The scheme would be of real value to patients affected by muscular dystrophy and other rare diseases as it would allow faster access to emerging treatments which have shown clear scientific benefit to patients and a positive risk profile. We call on the governments in each of the UK countries to support this approach and for the Medicines and Healthcare Products Regulatory Agency (MHRA) to publish the findings of their recent consultation on such a scheme.

‘We support the efforts of the pharmaceutical industry and the regulators to try to reduce the timeframe of clinical trials for future molecular patches with the potential to treat Duchenne muscular dystrophy, while maintaining standards of quality, safety and efficacy. The development of these so-called personalised medicines requires a re-assessment of approval protocols to avoid delays for patients with rare mutations. We call on regulators to consider class approval and a fast-track approach for drugs with the same mechanics of action treating different mutations of conditions such as Duchenne muscular dystrophy.

At the report launch, these recommendations received the backing of Parliamentarians, including the Health Minister, Normal Lamb MP, who expressed his support for the inquiry, and the Deputy Prime Minister, Rt Hon Nick Clegg MP. Mr Clegg said:

Having been contacted by a number of constituents who suffer from Muscular Dystrophy, I know how this rare disease has a detrimental affect on families throughout the UK. It’s important that we all work together to do what we can for those affected. I therefore extend my praise to those involved in organising this reception to highlight this campaign.

Our campaigners, themselves families affected by a muscle-wasting condition, were able to secure high profile coverage in the national media on the need to speed up access to treatments. This included BBC Breakfast News, where Jo Ashton and her son Liam were interviewed, and a feature on BBC News with Mark Creswick and Robert Meadowcroft. BBC Radio 4′s Today Programme, BBC Radio 5, ITV and the Independent also covered the report and spoke to families affected by muscular dystrophy or a related condition.

This media coverage and the report launch helped to significantly raise the profile of the issue and left us in a strong position to move the campaign for early access to medicines forward. The Muscular Dystrophy Campaign subsequently held meetings with Dr Ian Hudson, Chief Executive of MHRA, Sir Andrew Dillon, Chief Executive of NICE, as well as representatives from the NHS, to discuss how the APPG’s recommendations could be implemented as soon as possible. 

The campaign for earlier access to treatments also continued to gain recognition in Parliament. For example, at a debate last December on Rare Diseases, Graham Stringer MP drew attention to the slow process in obtaining approval for rare disease drugs:An excellent drug, or one that is likely to be excellent, can be developed, but because of the nature of rare diseases-that very few people suffer from them-it is very difficult to get it through the trials process, because that is designed to see whether the drug works on large numbers of people, quite sensible…NICE should have different rules for drugs related to rare diseases.

A firm indication that the Government was carefully considering the APPG’s recommendations came in January, when the Health Minister, Earl Howe, confirmed that Government thinking was at an ‘advanced stage’ on an early access to medicines scheme.

This has culminated in today’s announcement, which means that our hard work in campaigning for an Early Access to Medicines scheme is starting to pay off and we would like to thank all those who have lent their support. 

For more information about the Muscular Dystrophy Campaign’s work in campaigning for an Early Access to Medicines scheme, please get in touch on 020 7803 4838 or by email atp.sutton@muscular-dystrophy.org

Currently, a campaign on early access to medicines is underway in the US to urge the Food and Drug Administration (FDA) to give Accelerated Approval Rating to emerging treatments for Duchenne muscular dystrophy.

Source: Muscular Dystrophy Campaign

Cheyenne Posey gets surprise trip to Disney World

 

MONTEVALLO, Alabama – Moments before Mickey Mouse took the stage at Montevallo Elementary this afternoon, second-grader Cheyenne Posey sat with her face in her hands.

One by one her parents and others came on stage each holding a sign with one word: “You’re … going … to … Disney … Cheyenne.” With the last word displayed, Cheyenne threw her hands in the air and cheered.

Cheyenne, who suffers from a rare genetic disorder called glutaric acidemia type I that prevents her body from processing some protein, received the trip with her family from the Birmingham-based Magic Moments organization that grants wishes to severely sick children in Alabama.

“That’s the ultimate goal of Magic Moments is to be the light at the end of the tunnel” for children who have suffered a life-threatening illness or chronic life-threatening disease, said Kaitlin Bitz, statewide coordinator for Magic Moments. “It gives them a chance to be a kid again.”

Magic Moments granted the wish requested by Cheyenne’s parents to take the 8-year-old to Walt Disney World, where she and her family will visit July 28 through Aug. 3.

“I think it’s going to be an amazing experience for her,” said Cheyenne’s mom, Lacy Shannon of Hoover.

“We talk to her a lot about being appreciative of the things she gets,” Shannon said. “This is kind of a way to say thank you to her for being brave and to celebrate everything she’s been through and what she’s persevered through.”

Cheyenne’s dad, Shannon Posey, said his daughter since birth has had the disorder. “She’s limited in the foods she can consume,” which means less than 26 grams of protein daily, he said.

She has low muscle tone and cannot play certain sports and be active the same way as other children. “She tires more easily than other kids,” Posey said.

Magic Moments arranged to surprise Cheyenne and her 11-year-old brother, Cody, with the presentation involving Mickey Mouse at the school today. Second-graders gathered in the lunchroom and awaited the announcement with Cheyenne and Cody.

“It meant the world to us just to be recognized,” Posey said after the presentation.

Representing the Magic Moments organization were Randall Posey and his daughter Megan, who are unrelated to Cheyenne and her family. “It’s an amazing opportunity to be involved in something like this,” Megan Posey said. “To bring other people happiness is just wonderful and amazing.”

A wide smile remained on Cheyenne’s face during the surprise announcement. “I thought it was amazing,” said Cheyenne, wearing a red-and-white striped shirt with a picture of Mickey on it along with a red skirt with white polka dots reminiscent of Minnie Mouse.

Grabbing helium-filled balloons on a string before leaving the lunchroom, she waved and said, “Thank you, Mickey.”

An Ultra-rare Disease? Where Do We Go from Here?

Glenn Irvine

Advocacy for Neuroacanthocytosis Patients, London, United Kingdom

Abstract
When people are diagnosed with rare, incurable disorders, they and their families suffer both from the disease itself and from the lack of information and resources available. They become acutely aware that research can only be conducted when it is funded. This article presents our experiences following the diagnosis of our daughter with chorea-acanthocytosis, and describes how we established a not-for-profit organization to fund and facilitate research into this rare disease. Personal relationships with clinicians and scientists, and with friends who were willing to help, have played an essential part in moving the field of neuroacanthocytosis research forward.

Keywords: Patient advocacy; neuroacanthocytosis, rare disease

Citation: Irvine G, Irvine G. An Ultra-Rare Disease? Where Do We Go from Here? Tremor Other Hyperkinet Mov 2013; 3: http://tremorjournal.org/article/view/179

*To whom correspondence should be addressed. E-mail: glenn@naadvocacy.org

Editor: Elan D. Louis, Columbia University, United States of America

Received: May 16, 2013 Accepted: June 19, 2013 Published: November 1, 2013

Copyright: © 2013 Irvine et al. This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original author(s) and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.

Funding: Glenn and Ginger Irvine founded and run Advocacy for Neuroacanthocytosis Patients, a UK registered charity.

Financial Disclosures: None.

Conflict of Interest: The authors report no conflict of interest.

Introduction

At the age of 24 years, our articulate daughter began to mumble. Over the next few months occasional, hardly perceptible, involuntary arm movements developed into sudden, uncontrollable flailing. It slowly became clear that our daughter was not merely experiencing delayed adolescent awkwardness. A long trail of medical consultations wound from primary care to in-hospital observation, and through to the top neurological specialists. Countless tests and biopsies excluded many possible diagnoses. Finally, at a Grand Rounds session, a geneticist asked if our daughter’s blood had been checked for acanthocytes. Acanthocytes were found, and a few days later our daughter was discharged with a diagnosis of neuroacanthocytosis (NA).1

Searching the web, we found that only a few clinical observations2 had been published since Levine et al. and Critchley et al. first identified the condition in 1968.3, 4 This was not surprising, as the frequency is estimated to be 1 in 10 million.

Reluctantly, our daughter settled into the safe environment of her childhood home in London and received excellent care from the National Health Service. Through sheer chance, we discovered that research on NA had recently begun at the Wellcome Trust Centre for Human Genetics at the University of Oxford,5 and that a clinical study was about to be carried out at the US National Institute of Neurological Disorders and Stroke by Adrian Danek, MD, who was undertaking a fellowship there.

What could we, as parents, do? There was no patients’ organization concerned with the disease, but it was evident that a number of clinicians and cell biologists were interested. The interest of these professionals was our motivation. While there was no hope that we could contribute to the science and, we thought, little chance that we could raise money, there were some small things we could do. The first step was to translate into English Dr. Danek’s application (in German) for funding for a proposed first symposium on NA. The closing of US airports following the events of September 11, 2001, led to an unexpected visit from American friends who stayed with us while waiting to return to New York. When they heard of the proposed symposium they offered to help make it happen, and we were launched.

The infectious enthusiasm of the professionals at this first symposium in Germany in 2002 and our own hope of doing something to help created a “movement” that needed a name: “Advocacy for Neuroacanthocytosis Patients” was born.a Raising $5,000 to fund the publication of a book, Neuroacanthocytosis Syndromes,6 which came out of the first symposium, became our first attempt to ask friends and neighbors for support. Their response was greater than we had ever imagined and set us on the road to the next symposium, another book, and providing modest research grants.

What Can We Do? Roles for Patient Advocacy Groups

Supporting patients and their families

At the heart of our movement are people isolated by an all-consuming chronic dependency. The clinicians we met initially put a few affected families in contact with us and our reach slowly widened, but even after 11 years increased awareness is needed to reach all who might benefit from mutual support. Most of our contacts still begin with clinicians suggesting the Advocacy to those patients who are interested in talking with others who share their position. The internet and e-mail are invaluable channels for families who need information and, above all, human contact with others who understand and share their anxieties, concerns, and hopes. Our active approach to this “market” came from a pioneering publicist friend, Sheila Averbuch,b who generously offered to create NANews, an e-newsletter reporting on matters of interest to patients, clinicians, and researchers (available at http://www.naadvocacy.org). Circulation has grown to 1,700 subscribers around the globe. Now in its 20th edition, NANews is available in five European languages and the search is on for Japanese and Urdu translators. Our website was created by a friend and was recently upgraded and expanded with the help of a professional consultant. A dedicated section of the website allows patients to write about their experiences with NA and exchange correspondence in a safe, monitored environment.7 Translations into five European languages are also available. These translations are provided by the RareConnect service of the National Organization for Rare Diseases and EURORDIS, the European rare disease advocacy group. In addition, many of the language obstacles are overcome with French-, German-, Portuguese-, and Spanish-speaking “patient advocates,” who respond to e-mails from patients and families and support translation of the newsletter.

Diagnostic support and personal contacts have brought to light many new patients with NA, increasing the estimated number of people with this condition from 500 to 1,000 worldwide (A. Danek, personal communication).

Providing resources for clinicians

Even the most experienced neurologists in world centers of excellence are unlikely to see more than a few NA patients over their entire careers. Thus, a major responsibility for our patient advocacy group is to support opportunities for professionals to learn about NA and provide help with diagnosis, clinical experience, and patient support.

Dedicated medical professionals are vital contributors to this education initiative. One role of the Advocacy is to support symposia that are partly devoted to the clinical aspects of NA. Such meetings have been held in Munich, Montreal, Kyoto, London, Bethesda (MD, USA) and Ede. The publication of two books and several journal review articles based on contributions from speakers at our symposia provide an academic resource.6, 8 This resource is brought to life when “our” professionals are invited to speak at meetings of neurologists who are especially concerned with Huntington’s and Parkinson’s diseases. The book The Differential Diagnosis of Chorea,9 edited by our colleague Ruth H. Walker, provides a framework for the neurologist observing undiagnosed chorea.

A free diagnostic service is offered by Ludwig-Maximilians Universität in Munich, with support from the Advocacy.10 The test uses an antibody against VPS13A (vacuolar protein sorting 13 homolog A; also known as chorein), identified by researchers from the Wellcome Trust Centre for Human Genetics.11 Absence of VPS13A indicates chorea-acanthocytosis (ChAc). If the protein is present then colleagues at University Hospital, Zurich, can determine if the Kx antibody is missing, indicating a diagnosis of McLeod syndrome (MLS).12

To facilitate clinical research and potentially collect pathologic samples, we have supported Ludwig-Maximilians Universität in collecting uniform, descriptive reports in a patient registry, hosted by the European Huntington’s Disease Network platform.c The VPS13A Western blot diagnostic service was planned to be a source of new entries into the Patient Registry, offered free of charge with the request that the requesting physician enter the patient’s information into the anonymized database.13

Together with clinicians, the Advocacy encourages patients and their families to consider post-mortem tissue donation for research. When necessary, the Advocacy funds autopsies or transportation of samples to the tissue bank.

Basic scientific research

Prior to the first NA symposium in 2002, fundamental genetic studies had linked MLS to the causative XK gene14 and Levine–Critchley disease, renamed ChAc, to VPS13A. These studies were performed at the Wellcome Trust Centre for Human Genetics, and their findings were soon independently confirmed by researchers at Kagoshima University.15

ChAc and MLS are both associated with degeneration of the basal ganglia. In addition to the similar movement disorders seen in both, they share two further common characteristics: 1) acanthocytosis (thorn-like membranes of red blood cells); and 2) absence of the expression of specific proteins (VPS13A for ChAc and Kx for MLS).

An initiative to study acanthocytes for clues regarding the pathway to neurodegeneration was proposed by Ruth Walker and Giel Bosman in 2003. Starting with a small grant of $10,000, this project continues with direct grants from the Advocacy and substantial grants from the E-RARE program.d

In 2006, a commitment of $250,000 from a concerned donor provided the Advocacy with the resources for a planned research program. We learned a powerful lesson regarding the need for business-like management of grants following the funding of a project for a mouse model of ChAc that went unfulfilled. Thus, we set about looking to create an independent, outward-looking process that could objectively analyze grant applications. We needed experts in the basic cell biology of neurodegeneration as it related to the characteristics of NA diseases. Fortunately, introductions from another well-connected friend led us to form an independent and expert scientific panel.

In 2007, we issued our first call for research proposals. The application format was contributed by the Huntington’s Disease Society of America and, with permission, we adopted the “Conditions on which a grant is awarded” of the Wellcome Trust. An important added condition was the requirement for a short twice-yearly progress report, suitable for lay people, to be published in NANews.

One successful application was for a grant to study the significance of the loss of VPS13A expression in ChAc, which grew out of the 2008 symposium in London and Oxford. The aims of the study included:

•Identifying the activity of homolog proteins in a yeast model.

•Creating and studying induced pluripotent stem cell neurons from ChAc patients, in search of the cause of and eventual therapy for NA diseases.

•Developing specific antibodies against VPS13A. These antibodies are essential for visualizing VPS13A in cells and tissue extractions, and to facilitate studies of cell biology and animal models.

To date, the Advocacy has invested $544,000 in six research projects. This seed money has stimulated collaboration and interest, culminating in the creation of the European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA), which in 2009 won a grant under the European Union’s E-RARE program. In 2012 a second grant, for EMINA II, was successfully funded, and is supporting expanded studies of acanthocytes, molecular pathways in ChAc neurons generated from induced pluripotent stem cells from patients and controls, characterization of animal models of ChAc, and dissecting biochemical changes to ChAc neuronal networks.

These grants have added up to $1,756,000 in research funding, and other recipients of Advocacy grants have been encouraged to apply for further funding from the National Institutes of Health.

Further roles and opportunities for our contributions

Our success in recruiting growing numbers of scientists dedicated to the understanding of NA has brought with it the challenge of facilitating and building collaboration between geographically diverse research efforts. Different teams will invariably observe different phenomena, and the Advocacy seeks to encourage and support the collegial spirit that has been a hallmark of the NA movement over the past 15 years.

Working with our professional colleagues, the Advocacy now aims to expand interest in the pathological pathway of degeneration of the basal ganglia, for example by finding new cell biology researchers to deepen the investigations into autophagy. In addition, the Advocacy is preparing for the time when understandings won by academic scientists can form the basis of collaboration with pharmaceutical and biotechnology companies in developing potentially therapeutic molecules, leading to trials and ultimately a therapy. Friends have introduced us to companies such as GlaxoSmithKline, Novartis, Boehringer Ingelheim, and Alexion. In addition to potential future collaborations on therapies, some of these companies have also supported our educational role. As academic research leads to a greater understanding of the pathologic processes involved in NA, collaborations with industry will make an important contribution to our ultimate goal of finding a cure.

Such a rare and dispersed disease presents practical challenges to research. For example, there are only a few tissue donors in any one country. Supplying tissue samples across borders is hampered by a lack of contacts and by national regulations regarding the use of human tissue for research. These are practical problems that support from the Advocacy can overcome. The Advocacy should continue to play a role in coordinating the supply of blood samples and patient information for research.

Another important role of the Advocacy, providing a conduit between patients and its professional partners, is that of supporting pharmacovigilance. Patient reports of both beneficial and harmful drug reactions will be encouraged and passed to the appropriate authorities.

The internet and e-mail have been crucial assets in supporting the widely spread patient group and developing the international research effort. While e-mail is convenient for most of the older generations, it may be replaced by other forms of social media, which resemble sensitive ears listening in on conversations and deciding which to follow. Many people do not regularly review either websites or patient-message exchanges such as RareConnect. Learning to use wider social media for the benefit of patients, patients’ families, and professionals is a new challenge.

The progress made in the field of NA since 2001 has only been possible because of the generosity of donors and the voluntary contributions of medical professionals, families and friends of the Advocacy, and a myriad of volunteers. Important challenges include finding ways of continuing with this and identifying new leaders as the inevitable passing of leadership occurs.

Footnotes

aAdvocacy for Neuroacanthocytosis Patients was incorporated and registered as a charity by the Charity Commission of England and Wales in 2009. Before this, the charity “John Grooms” handled the Advocacy’s finances.

bSheila McDonald Averbuch is a Harvard and Stanford-trained journalist who, with her husband, Ralph, created ENNclick, a content service focussed on the use of social media.

cThe European Huntington’s Disease Network and the CHDI Foundation are exemplary organizations pursuing the welfare of patients with Huntington’s disease and research focussed on therapies for Huntington’s disease. We are grateful to Professor Bernard Landwehrmeyer for his support of patients with NA.

dE-RARE is a program initiated by the European Union. The red blood cell investigations have been a part of the European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA).

Arlington Heights Moms Raise Money, Awareness for Rare Kids’ Disease

Melissa Silverberg

When Jenn Licato’s daughter and Kristin Meek’s son were diagnosed with neurofibromatosis, the Arlington Heights mothers had the same reaction: What is that?

Neurofibromatosis is a rare genetic disease that causes tumors to grow everywhere and anywhere on the body — including in places like the spine, eyes or ears. They can lead to pain, disability and, if they are on the exterior of the skin, disfigurement.

There is no cure for the disease, which also can bring about learning disabilities, blindness, deafness, amputations and other problems.

NF was in the news a few months ago when Pope Francis prayed with and hugged a man whose skin was completely covered in tumors because of the disease.

With one out of every 3,000 children being affected, neurofibromatosis is actually more common than cystic fibrosis, but less well known — something Licato and Meek are trying to change.

When Meek’s son Ben, now almost 5, was about 6 months old, she started noticing numerous discolored marks on his skin. The so-called café-au-lait spots are a first sign of the disease, but it took a trip to a dermatologist and then a specialist at Lurie Children’s Hospital in Chicago before the diagnosis was made.

“My initial reaction was, ‘What is this word?’ I was shocked and sobbing,” Meek said.

A few years later, friends at her church introduced her to Licato, another Arlington Heights mother who was going through the same diagnosis process with her daughter Audrey, now 22 months.

Licato said she thinks she was in denial when she first heard the diagnosis.

“There are days when I wake up and think, ‘She will be OK,’” Licato said. “But there’s no set path. It’s not clear cut, there are so many things that could go wrong.”

The two mothers became fast friends, sharing concerns about their children’s illness, looking up research together and participating in charity walks.

The two have raised more than $30,000 for neurofibromatosis research organizations in the past year, some from a fundraiser and silent auction they hosted together last month at Metropolis Performing Arts Centre in Arlington Heights.

“(Ben and Audrey) have a long way ahead of them, so if we can start some clinical trials now, maybe there can be new discoveries by the time they are older,” Meek said.

Aside from raising money together, the moms have been a shoulder for one another to lean on.

“No one else understands what we are going through, so having someone local who gets it is an amazing help,” Meek said.

“We are a special kind of friends,” Licato said. “It’s so nice to know there’s somebody else looking at research and keeping an eye out.”

For now, Ben and Audrey are both relatively healthy, though both are small for their age, have several discoloration marks and are starting to grow a few visible tumors. The disease will continue to progress as they grow.

“The hardest part is you just don’t know,” Licato said. “We’ll never be able to rest easy. Ben and Audrey could grow up to live totally normal lives, or they could not. This is going to be with us for the rest of our lives.”

Even if the children grow up with relatively few health concerns, NF could leave them physically disfigured, something their parents worry about as well.

“You want your kids to grow up to be happy, but that can be affected too,” Licato said. “We worry about how they’ll feel about themselves.”

Neurofibromatosis is still somewhat unknown. Compared with childhood diabetes or leukemia, there is relatively little literature for how to talk to your child and other siblings about NF.

Meek tells her family, “Everyone has something. Some things you can see, some you can’t. That’s why you have to be understanding of all people.”

Licato believes, “God gave us Audrey for a reason, so we can make a difference.”

The duo will participate in the Great Steps For NF Walk sponsored by NF Midwest in Naperville on June 21 and the Children’s Tumor Foundation NF Walk in Chicago on June 28.

Licato said the walks and fundraisers have given her back a sense of control that she lost after the diagnosis.

“You have no control of what’s going to happen. There’s no medicine you can give them to make them better,” Licato said. “You don’t appreciate healthy kids until you don’t have one.”

Source: Daily Herald

Conference Will Put Rare Illness in the Spotlight

Marion Sauvebois

A rare neurological condition affecting tens of thousands of people in the UK but which continues to puzzle medical experts will be placed in the spotlight at a national forum in Swindon next month.

CMT UK, a charity dedicated to supporting people affected by the inherited disorder Charcot-Marie-Tooth has chosen the town’s Hilton Hotel to hold its 26th annual conference on April 5.

CMT is a progressive condition which damages the nerves controlling the muscles and relaying sensory information, such as the sense of touch, from the limbs to the brain.

People with the long-term illness experience muscle weakness, often have an awkward gait and curled toes. This can lead to numbness and pain.

These symptoms slowly get worse as sensory and motor nerves deteriorate with age.

It is estimated around 23,000 people may have CMT nationwide.

Some 170 members with the condition will gather to hear about the charity’s plans to increase its income to £2m over the next five years, meet its first ever fundraising manager who was recently appointed and hear the latest findings from researchers at the UCL Institute of Neurology.

Among them will be Eileen Sealey, of Moredon, who was diagnosed with the disorder 64 years ago at the age of eight after her toes began pointing inward.

She underwent courses of physiotherapy for years to relieve symptoms, aid her mobility and increase her independence and quality of life and is now determined to raise awareness of CMT and highlight the importance of funding new research into a cure.

“I started walking pigeon-toed; that’s when it was first noticed,” she said. “Mostly it affects your arms and legs and hand movements. For instance knitting at the moment is difficult and I feel like I am knitting with crowbars. My muscles seem to lock down.

“I worked as a clerk-typist so the condition didn’t stop me. But you have to learn to live with it and make adjustments. I had to have intense physiotherapy for a number of years to make my muscles work. The less you move the more it deteriorates and you have to keep moving as much as you can.”

As the illness is inherited, Eileen made the decision not to have children to avoid the risk of passing it on to her offspring.

“The only way to stop it at the moment is virtually not to have a family,” she said.

To find out more about the conference contact Karen Butcher on 01202 432048 or email info@cmtuk.org.uk.

Source: Swindon Advertiser

New Technique Cures Rare Swallowing Disorder

Umesh Isalkar

For nine months, Suresh (28) could not swallow food. If he tried too hard, the food would get stuck in his food pipe and he would have to throw up. When examined, doctors diagnosed him with achalasia cardia, a condition where the food pipe muscles thicken and do not relax after swallowing.

Patients suffering from the condition cannot swallow food, sometimes not even water or their own saliva. The condition can also cause reflux, chest pain and eventually cancer of the food pipe, oesophageal cancer, doctors say.

Mumbai-based gastroenterologist Amit Maydeo performed a minimally invasive surgery, Peroral Endoscopic Myotomy (POEM), to treat Suresh’s condition at the 15th Annual Conference of Society of Gastrointestinal Endoscopists of India that concluded in Pune on March 16. After a gap of nine months, Suresh could finally start eating slowly without any difficulty.

“Achalasia can manifest from a young age of around 5-6 years to around 70 years of age. Younger the patient, tighter is the achalasia,” said Maydeo.

The exact incidence of achalasia cardia is not properly studied in India, but conservative estimates indicate an incidence of around 2.5 in a 1lakh population. But seen from treating doctors’ experience, the incidence seems to be higher.

Doctors say the condition is not related to any food or lifestyle. “It occurs because of degeneration of the nerve plexus (branching network of intersecting nerves) around the oesophagus (food pipe) thereby causing inadequate relaxation of the lower oesophageal sphincter (bundle of muscles) after eating. The food therefore remains in the food pipe itself. If this continues for a long time, it can lead to oesophageal cancer,” Maydeo said.

Elaborating, how POEM has an edge over traditional surgical methods, Maydeo said, “Achalasia has been traditionally treated by a laparoscopic myotomy surgery, which usually stretches for two hours and around six small incisions are made in the stomach. Balloon dilatation has been another method to treat these patients but the procedure is associated with an uncontrolled rupture of the muscle fibres and is therefore considered dangerous.”

“The new technique, POEM, is a virtually non-invasive as no external cut is made on the body. The average blood loss is less than 5 ml. The patient’s recovery is remarkable and patient is able to talk and walk from the next day itself and can start eating food after one week,” said Maydeo who performed India’s first incision free POEM on a 54-year-old woman diagnosed with achalasia cardia in September 2012. The woman had been suffering from the condition for two years.

Maydeo has performed 103 procedures over the past 17 months in Mumbai.

Since the procedure was invented in 2007, its long-term results are not yet known. “However, the result has been good with patients treated so far. Almost all the patients have been relieved of the difficulty in swallowing,” Maydeo said.

As many as 30 patients have undergone POEM in Pune in the last two years (since December 2012). Deenanath Mangeshkar Hospital is the only centre in Pune that performs this procedure.

“The youngest patient to undergo POEM in Pune is 12 and the oldest 70. The procedure is therefore considered safe for all age groups,” said city-based gastroenterologist and interventional endoscopist Amol Bapaye, who claims to be the only doctor in Pune who performs POEM.

Since there is no cause, its prevention is not really feasible. Bapaye said, “Most patients with achalasia cardia are idiopathic in origin, which means there is no obvious detectable cause for the disorder. Since there is no cause, there are no preventive measures for the disease. No genetic or hereditary predisposition has been detected.”

Outside Maharashtra, few cases of POEM have been reported from Hyderabad, Surat, Kochi and Coimbatore, Bapaye said.

Around 3 to 4 centres in India have attempted POEM and a training course on the procedure has been planned in June at Global Hospital, Mumbai, for doctors from India and also surrounding Asian countries. An initiative – Foundation for Research and Education in Endoscopy (FREE) – too has been started to train doctors in this procedure as well as in many other advanced endoscopy procedures.

Source: The Times of India

Pierre Fabre Obtains FDA Approval to Market HemangeolTM for the Treatment of Infantile Hemangioma

Pierre Fabre Dermatologie has obtained marketing authorization from the FDA* for the pediatric drug HemangeolTM (propranolol hydrochloride), which is the first and only approved treatment for “proliferating infantile hemangioma requiring systemic therapy”. Hemangeol is an oral solution specially developed for safe and effective use in children. Hemangeol will be available June 2014.

“The marketing authorization granted by the FDA rewards a public–private partnership developed over the last six years by Pierre Fabre Laboratories and the Bordeaux University Hospital, with the support from Aquitaine Science Transfert”

This marketing authorization comes after the new drug application for Hemangeol was submitted to the US FDA in May 2013. The application was also submitted to the European Medicines Agency, receiving positive opinion on February 21st, 2014 from the CHMP**, with marketing authorization expected for April 28th, 2014.

The efficacy of propranolol in the treatment of infantile hemangioma (IH) was first discovered in 2007 by Dr. Christine Léauté-Labreze, a dermatologist at the Bordeaux University Hospital. Subsequently, the off-label use of this molecule became the first-line treatment for IH. While propranolol has long been known and used in cardiology, its use in infants with IH had never been properly studied and there was no pharmaceutical form approved for pediatric use. In 2009, Pierre Fabre Dermatologie undertook the pharmaceutical and clinical development required to make the Bordeaux University Hospital discovery accessible to infants with IH, with proven clinical safety and efficacy.

“This collaboration has endowed pediatric dermatology with a new therapy that fulfills an unmet medical need and thousands of American children may now benefit from this new therapy each year,” declared Dr. Jean-Jacques Voisard, Dermatologist, General Manager of Pierre Fabre Dermatologie.

“As Pierre Fabre US representatives we are proud to be part of a Group able to develop children dedicated medicines and to be the first Pierre Fabre subsidiary to obtain marketing approval for Hemangeol,” underlined Laurent-Emmanuel Saffré, General Manager of Pierre Fabre Pharmaceuticals, Inc. (USA).

The marketing authorization granted by the FDA rewards a public–private partnership developed over the last six years by Pierre Fabre Laboratories and the Bordeaux University Hospital, with the support from Aquitaine Science Transfert,” stated Eric Ducournau, CEO of Pierre Fabre Dermo-cosmetics SAS, parent company of Pierre Fabre Dermatologie.

Following the marketing authorization approved by the FDA in July last year for Fetzima (levomilnacipran extended-release capsules), a drug created by Pierre Fabre research and developed in partnership with Forest Laboratories, the Hemangeol marketing authorization is yet further recognition for our R&D on the world’s most demanding pharmaceutical market. This is a tremendous encouragement to pursue our R&D effort in oncology, dermatology and neuropsychiatry which are our prioritized therapeutic areas of innovation,” commented Bertrand Parmentier, CEO of the Pierre Fabre Laboratories.

* FDA (Food and Drug Administration) ** CHMP (Committee for Medicinal Products for Human Use)

About HemangeolTM

Hemangeol™ (propranolol hydrochloride) formulation was specifically developed for the use in pediatric population following the guidelines of health regulatory agencies. Hemangeol was studied in infants 5 weeks to 5 months old (at therapy initiation) with a proliferative infantile hemangioma requiring systemic treatment in a randomized, double blind placebo controlled, multi-dose and multi-center adaptive phase II/III trial, which compared four propranolol treatment protocols (1 or 3 mg/kg/day for 3 or 6 months) versus placebo. The treatment protocol of 3 mg/kg/day dose for the duration of 6 months had a 60.4% success rate versus 3.6% in the placebo group (p< 0.0001) reaching the primary endpoint: complete or nearly-complete resolution of the target hemangioma. In 11.4% of patients needed to be retreated after stopping the treatment.

Important Safety Information
Hemangeol is contraindicated in premature infants with corrected age < 5 weeks; infants weighing less than 2 kg; known hypersensitivity to propranolol or any of the excipients, has asthma or history of bronchospasm, heart rate <80 beats per minute, greater than first degree heart block, or decompensated heart failure ; blood pressure <50/30 mmHg; or pheochromocytoma.

Hemangeol can cause serious side effects including hypoglycemia, bradycardia, hypotension, bronchospasm, worsen congestive heart failure, and may increase the risk of stroke in children with PHACE syndrome.

The most frequently reported adverse reactions (>10%) in infants treated with Hemangeol were sleep disorders, aggravated respiratory tract infections such as bronchitis and bronchiolitis associated with cough and fever, diarrhea, and vomiting. Adverse reactions led to treatment discontinuation in fewer than 2 % of treated patients.

About Pierre Fabre and Pierre Fabre Dermatologie www.pierre-fabre.com

Contacts

Press contacts :
US : Pierre Fabre USA
Laurent Emmanuel Saffré, 973-647-1610973-647-1610
lsaffre@PFDCUSA.com
or
France :
Valérie Roucoules Bruneau, +33 (0)1 49 10 83 84+33 (0)1 49 10 83 84
valerie.roucoules@pierre-fabre.com

Source: Pierre Fabre Dermatologie

Blood Screening Saving Babies Lives

ImageSeveral babies’ lives are saved every year by screening for a rare, but potentially fatal condition, Public Health England has revealed.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), makes it hard for the body to break down fats and produce energy and affects one in 10,000 babies born in the UK. 

If left untreated the condition almost always causes severe developmental problems, including serious mental disability or even death.

28 February 2014 marked the 7th annual World Rare Disease Day which aims to raise awareness of rare conditions that can have a serious impact on patients’ lives, such as MCADD.

The newborn screening programme offers screening to all babies in the UK to identify those who are at high risk of having certain serious but rare conditions.

Dr Anne Mackie, director of programmes for the UK National Screening Committee (UKNSC), part of Public Health England said: “Last year over 650,000 babies were screened through the programme and 1,287 were identified as high risk for conditions that include sickle cell disease, cystic fibrosis and MCADD.

“Screening for MCADD saves approximately 12 children’s lives a year. Early identification, leading to treatment helps ensure these babies can go on to live full and happy lives.” 

Source: Nursing in Practice