We are so excited to share that Team Titin, Inc. was officially approved as a 501(c)(3) nonprofit corporation!
Team Titin’s work had previously been achieved via fiscal partnerships with other nonprofits. We are SO grateful for our supportive partnerships since 2006 with Cure CMD, the Joshua Frase Foundation and more.
Having this new status will help us advance our mission is to support individuals, families, and their healthcare providers, and serve as a catalyst for academic and industry research to develop a better understanding of Titin-related disorders.
This year’s LGMD awareness day is an exciting and very important event! I’d like to take some time to express just how crucial this day of awareness is to each one us living with LGMD. September 30th is not just a date on the calendar anymore. It stands as a beacon of hope and unity. The LGMD community is announcing to the world that we are not alone as patients with LGMD, as caregivers of patients with LGMD, and that we are not alone as fellow citizens of the world.
Embracing each other and unifying under the LGMD umbrella, regardless of your subtype, is such a critical step towards progress that is so desperately needed by our community. We truly are stronger together, and with the entire LGMD community helping to jointly raise awareness of this very rare set of diseases, we are sure to increase awareness and foster a sense of togetherness and hopefulness that one day (hopefully very soon) we will begin to see treatments for LGMDs. I live with LGMD 2J/R10, and like many of you reading this, I often struggle to accept this condition, to accept the long wait for treatments, and often times feel very isolated because of the rarity of my condition. LGMD’s take from us frequently, and leave us making limeade out of limes all too often, but accepting your diagnosis and truly embracing your strengths alongside your limitations will lead to great power. Embrace the “I am LGMD” spirit this year. Reach out to fellow patients, tell people about your condition, and find hope in the unity we are all striving for on this monumental day. – By John F.
Registration is now open for the 2022 SciFam conference! This is an opportunity for individuals affected by titin related muscle and heart disorders and their families to connect with experts. Team Titin has partnered with the Cure CMD and A Foundation Building Strength to offer a fantastic program, including Kids Camp. The family conference starts on Friday, July 1 at 4:30 pm CT through Sunday, July 3 at 3:30 pm CT. You can learn about best care practices for relevant day-to-day health challenges, get research updates and connect with others on a similar journey. You can find the preliminary agenda on the website. Please register here: https://www.scifam.info/
Team Titin and the SciFam planning team look forward to welcoming you all to 2022 SciFam!!
SCIENTIFIC PEER REVIEW OF CONGRESSIONALLY DIRECTED MEDICAL RESEARCH PROGRAMS’ PEER REVIEWED MEDICAL RESEARCH PROGRAM FOR THE DEPARTMENT OF DEFENSE
The Congressionally Directed Medical Research Programs’ (CDMRP), Peer Reviewed Medical Research Program (PRMRP) consumer advocate Sarah Foye, an advocate for Team Titin, recently participated in the evaluation of research applications submitted to the PRMRP. Foyewas nominated for participation in the program by the Children’s Cardiomyopathy Foundation, Tenafly, NJ. As a consumer reviewer, Foye was a full voting member, (along with prominent scientists) at meetings to help determine how the $370 million appropriated by Congress for Fiscal Year 2021 will be spent on Peer Reviewed Medical research.
Consumer reviewers are asked to represent the collective view of patients by preparing comments on the impact of the research on issues such as diagnosis, treatment, and quality of life. When commenting on serving as a consumer reviewer, Foyesaid that, “It was an honor to serve as a reviewer. I am grateful to be a voice for families who may benefit from the research developments.”.
Consumer advocates and scientists have worked together in this unique partnership to evaluate the merit of research applications since FY99. COL Sarah B. Goldman, Director of the CDMRP, expressed her appreciation for the consumer advocates’ hard work. “Integrating consumer perspectives into our decision-making process brings energy and focus to our research programs. Patients, caregivers, family members, and advocates help us keep our efforts centered around what is truly important to those impacted. We very much value this critical input from our consumers who help ensure that CDMRP’s work remains critical and relevant,” she said.
Researchers applying to the PRMRP propose to improve the health, care, and well-being of all Military Service members, Veterans, and beneficiaries. The PRMRP fills important gaps by supporting groundbreaking research while encouraging out-of-the box thinking.
November 29, 2021 by Holger Fischer and Sarah Foye
ZNM – Zusammen Stark! e.V. ,Team Titin, and the Foye Family have joined forces to better understand muscle diseases caused by changes in the TTN gene, which are called titinopathies. A joint grant of 50,000 Euros has been awarded to Dr Anna Sarkozy, MD, PhD and Dr Giovanni Baranello, MD, PhD at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health, London, UK. Additional partners also include Prof Francesco Muntoni from the same Institution, and Prof Heinz Jungbluth at Evelina Children’s Hospital in London, UK. The project’s kick-off is expected early next year, after all formalities have been completed.
As is the case for many rare genetic diseases, there are currently no treatments available for patients with titinopathies. One obstacle for the development of new treatments is that titinopathies are not sufficiently studied. In order for a potential drug to be tested in clinical trials, it is crucial that the typical course of the disease is well understood. A natural history study aims to understand what is the natural course of a medical condition without treatment. Having this baseline knowledge will help to investigate if a future therapeutic strategy can improve the course of the disease within a clinical trial. A successful natural history study is therefore an important requirement for clinical trials in the future.
An important piece in assessing natural history is identifying the right parameters to measure the course of the disease. These parameters are called “outcome measures.” Patients, families and clinicians can work together to find the best parameters to help assess the impact of a medical condition on health and quality of life.
This grant funding is for a project entitled “Improving clinical trial readiness for TTN gene related centronuclear myopathies”. The goals of this project are to:
Better understand the natural history of children with TTN-related congenital myopathy (TTN-RM).
Identify the best assessment parameters (outcome measures).
Validate if the use of muscle imaging by ultrasound and MRI can help with diagnosis and tracking status over time.
This study will track ~20 children in the UK over an 18 month period.
“We are very happy to have found in Sarah and Team Titin a partner that shares our values in the way to fund research and to give families hope. We are indeed together strong!” – Holger Fischer from ZNM – Zusammen Stark! e.V.
Anna Sarkozy and Giovanni Baranello, added “over the last years, development of new treatments has been moving fast and this funding opportunity is timely to push a rare condition such as TTN-gene related congenital myopathy into the translational field. It is an honour for us to work with ZNM – Zusammen Stark! e.V. and Team Titin for this common goal and we are looking forward to starting the project”.
Sarah Foye, Titin Family advocate, said of the project, “I am thrilled to be supporting this important work to better understand TTN-gene related congenital myopathy. It’s an important step towards moving forward to a future treatment. The collaborative spirit of ZNM – Zusammen Stark! e.V. makes it easy to work together towards our common goals of serving families with muscle disease like centronuclear myopathy. It is an honor to be supporting the work of these esteemed clinicians.”
For affected individuals who are interested in participating, enrollment information is expected to follow in 2022.
About ZNM – Zusammen Stark! e.V. (CNM – Together Strong!)
ZNM – Zusammen Stark e.V. is a self-help association for myotubular myopathy and other centronuclear myopathies (CNM = ZNM). We represent 179 individuals from 68 families with a CNM in Germany, the Netherlands and Austria. As a self-help organization our main goal is to connect those affected and their families, and to support each other in our daily lives. This is mainly done by our yearly family conference, webinars and our closed Facebook support group. We also actively invest in research to find a treatment for these conditions. For more information please visit https://www.znm-zusammenstark.org/en
About Team Titin Team Titin is a consortium of scientists and affected community members whose mission is to make a worldwide difference in Titin-related muscle and heart disorders by: collaborating with other organizations, raising awareness, providing education, and supporting research. Our goal is to serve as a catalyst for researchers and clinicians to develop a better understanding of Titin related disorders leading ultimately to a cure.
About Great Ormond Street Hospital
Great Ormond Street Hospital is one of the world’s leading children’s hospitals with the broadest range of dedicated, children’s healthcare specialists under one roof in the UK. The hospital’s pioneering research and treatment gives hope to children from across the UK with the rarest, most complex and often life-threatening conditions. Our patients and families are central to everything we do – from the moment they come through the door and for as long as they need us.
About UCL Great Ormond Street Institute of Child Health
The UCL Great Ormond Street Institute of Child Health (ICH) is part of the Faculty of Population Health Sciences within the School of Life and Medical Sciences at University College London. Together with its clinical partner Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH), it forms the UK’s only paediatric National Institute for Health Research Biomedical Research Centre and has the largest concentration of children’s health research in Europe. For more information visit www.ucl.ac.uk/child-health
Let’s face it, for families who face chronic health conditions life doesn’t always go to plan. Over the years, my family has faced many decision points due to unexpected events like illness or medical issues. I was recently helping a friend talk through a necessary pivot when I realized we had developed “Pivot Principles” over the years that help us to navigate decision points. So, here I share them with you:
1. What INFORMATION do I need to make this decision? For example: Results of a COVID test after exposure? or What is the status of disrupted work schedule for needed caregivers? or Can I get a refund on that reservation? or What does our pediatrician think about flying with this ear infection?
2. WHEN do I need to make this decision? I found it SO helpful to make a deadline for a decision. This may include the option to not decide right NOW. For example, with travel, can I make this decision 1 hour prior to a cancellation/refund forfeit deadline? Mentally I find this so helpful even if it’s to chose – “I’m not deciding now” but to set a date/time that a decision is needed by. This helps reduce my stress level. Sometimes the situation “shakes out” in the meantime before a decision deadline.
3. Can I prepare in advance to pivot to a NEW PLAN go more smoothly if we have to change course? For example, can you make a second, refundable reservation for a future date? I find that have a future, alternative pivot plan is helpful – even if it never gets used and you end up sticking with your current plan. This mentally helps me get through the disappointment that comes with changing plans. It also has my family prepared and ready to adapt.
4. Acknowledge any disappointments, let go, and try to enjoy the new plan.
For example, high rates of COVID in our community prevented us from taking a planned trip that we were really looking forward to. We set a deadline to check the rate of transmission on a given date before our lodging refund deadline. When the decision deadline arrived, we chose to cancel our trip. We chose to reschedule for 6 months later, which gave us something to look forward to. We adapted by holding onto our time off of work, planning an epic “Staycation” that involved special take out food and visits to our local nature trails. We acknowledged the disappointment we felt from not going on our planned trip to our beloved get-away destination but focused on being together and creating a different kind of fun.
I hope these strategies help you as you enter this holiday season of travel and navigating potential COVID-19 exposures, colds, flu and more. Life will throw us curve balls – I hope you are armed and resilient to adapt.
This is a wonderful resource for families to learn more about getting the best care in a wide range of clinical areas. Click HERE for a PDF version of this document.
The Care of Congenital Myopathy: A Guide for Families is a comprehensive care guide developed for families and people with congenital myopathy (CM) in response to community requests for useful information. This work began as a translation into more easily understood language from the Consensus Statement on Standard of Care for Congenital Myopathies medical document that was published in 2012 by Wang and colleagues in the Journal of Child Neurology. As the guide for families took shape, it was apparent that the guidebook would include much more than basic medical information, since we had terrific input from the very people living with and caring for someone with CM. The family guide became testimony to many of the challenges, joys, concerns, and triumphs that are typical for those living a not-so-typical life. Our sincere appreciation goes out to everyone that contributed to what we hope will be an engaging, informative manual for families and individuals with CM.
Greetings families affected by titin related muscle and heart disorders. Our world is now facing the global health challenge of the Coronavirus pandemic (COVID-19). Please keep in mind that there are special considerations for people with titin health disorders, including carriers. Please see details below.
Video update from Dr. A. Reghan Foley, Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, shares how the neuromuscular community can navigate the continued COVID-19 pandemic, including guidance on vaccinations, mask wearing, deciding which medical appointments, evaluations and surgeries should not be delayed, returning to in-person school settings and what medications you may be eligible to receive if you test positive for the virus.
People with neuromuscular disease are at risk for complications from COVID-19. See here for more information from the CDC.
Vaccines Webinar Featuring Dr. Francis Collins here.
It is VERY IMPORTANT to try to avoid getting COVID-19. See here for tips on how to protect yourself and others from the CDC.
CHEST Foundation Care Recommendations for Home‑Based Ventilation Patients can be found here.
The World Muscle Society position and advice (look for updates as well) found here.
Preparedness checklist from the Speak Foundation is found here.
Advocacy letter for affected individuals regarding your civil rights can be found here.
Some medications used to treat COVID-19 have negative side effects on the heart.Position statement from Elizabeth McNally MD PhD, Northwestern University”I think there is very little known about the potential cardiac complications of using hydroxychloroquine or chloroquine. I would not encourage people with TTN disease to use this to prevent infection, since there is not enough known yet. Some of the early efficacy was in the setting of using many other drugs including azithromycin, so it’s very hard to know.The most severe, lethal cases of COVID-19 do seem to have heart damage, and so those with TTN should work hard to avoid infection. Stay sequestered and avoid contacts, especially avoid younger people who may not be doing such a great job at avoiding contacts since some of these people are asymptomatic/minimally symptomatic carriers.
Position statement from Prof. Diane Fatkin, Victor Chang Cardiac Research Institute
“First, people who have cardiomyopathies have an increased risk of complications of COVID-19. Family members who have DCM need to self-isolate and take every precaution to avoid contact with COVID-19 carriers.
Second, there have been lots of drugs proposed for COVID-19 treatment. At this stage, there are no good clinical trials to provide hard evidence for selecting one drug over another. The anti-malarial drugs (chloroquine etc) may be useful but we don’t know yet how safe they are and there is an increased risk of long QT syndrome. Hopefully the situation will be clearer in the near future. There are a number of clinical trials under way that will help sort out what is both effective and safe.
All this is changing rapidly and we need to keep updated!”
8. NMD-Specific COVID-19 Video Tips from Lou Saporito, BA RRT