Approximately half of all patients diagnosed with cardiomyopathy in the U.S. have some type of genetic cause, while only about one percent of cardiomyopathy patients get genetic testing for their cardiomyopathy. Truncating variants in the TTN (titin) gene are the most common cause of inherited cardiomyopathy.
The Genetic Cardiomyopathy Awareness Campaign was launched in the U.S. in early 2023 by eight U.S.-based cardiomyopathy patient groups to raise awareness about the need for genetic testing for cardiomyopathy patients and family members.
The purpose of this campaign is to raise awareness and to get more cardiomyopathy patients and family members genetically tested, which will help save lives and advance genetic research and therapies.
Journey to healing and becoming a life coach – coping with LGMD2J/R10
Wellness program startingFeb 1, 2023by Amie Lee
I’ll never forget the feeling of fear that washed over me when I received my diagnosis of Limb Girdle Muscular Dystrophy 2J. I decided knowledge was power, so I began searching anything I could find about my disease. Back in 2016, there was NOTHING online. I wanted to raise awareness, so I created the LGMD2J Facebook page and shared it with other groups, in hopes of finding others with 2J. I went to doctors’ appointments often seeking more knowledge and quickly became frustrated because the doctors never seemed to know much about my disease. It became a waste of my time, so I just started living my life and adjusting to the changes in my body. I fell into a deep depression and battled with overwhelming anxiety. I couldn’t go to a public place without knowing what kind of entrance it had. Steps and ramps, without a rail on my right side, were difficult to navigate. I pulled back from the world and threw my focus into raising my children. I lost myself. I lived life with a fake smile plastered to my face while I was miserable inside. My body continued to weaken in areas, and I knew deep down, I was going to end up in a wheelchair. I couldn’t imagine being overweight in a wheelchair. I had always taken pride in being a pretty girl and it felt like this disease was stripping me of that title. My mind and body were not aligned. I had gained 50 lbs quickly due to depression. That kind of weight is overwhelming to someone with weak muscles; it felt like 100 lbs. I was desperate for change! I was not going to be this person. I decided to take action by having weight loss surgery. It was deemed medically necessary by my neurologist and cardiologist because I am exercise intolerant. I began my weight loss journey and over the course of three years, I lost weight. It wasn’t a quick fix like some view weight loss surgery to be. It was a tool I was given to help me lose weight. I could still easily gain weight if I wasn’t careful. Life carried on and I was still stuck in autopilot; caring for my family, with little regard to myself. I was embarrassed of the changes in my body. I walked differently and struggled with drop foot. I wanted to hide from the world physically, but deep down longed to be the vibrant woman I knew I was. I began to battle within. I fell into a deep depression again and this time it was a doozy. I was reckless and careless. I completely lost sight of who I was. Years of trauma that rooted all the way back to childhood crept in along with the misery that Limb Girdle Muscular Dystrophy gave me. I completely went numb. I didn’t want to feel anything anymore. I refer to that year as my “dark year”. I hurt myself and my loved ones so much. The woman I became was unrecognizable. I was so ashamed and lost, feeling overwhelmed with defeat.
Then through a trail of events, I came into contact with a life coach, and she helped me transform my life! She was able to connect with me unlike any therapist could. I began my healing journey. I learned how to feel and release my emotions. We aren’t taught how to manage our emotions. Our bodies store emotional trauma when we don’t allow ourselves to “feel and heal”. I began journaling and became extremely self-aware. I learned to truly love myself for the first time in my entire life! Self-love is unlike any love I have ever experienced. I completely transformed myself by changing my mindset. I was able to get off of anxiety medication I had been on for years! I began to lose weight while eating what I wanted. My body didn’t feel overwhelmed with pain. I felt lighter-in every sense of the word! I have made it my mission to help others step into their authentic selves and take their power back! I recently bought a wheelchair, and I am excited to use it! It is going to help my sweet little body enjoy life to the fullest! I am no longer living with a victim mentality.
My mind is stronger than my body. My healing journey inspired me to enroll in Texas State University to obtain my certification as a life coach. I am passionate about helping others on their wellness journey because I am proof that it can transform your life in a positive way.
I am now a certified wellness coach that guides clients to balance their lives.
Wellness is divided into seven aspects: mental, physical, social, financial, spiritual, environmental and vocational. If one or more of these areas are off balance, it can prevent us from living the life we desire. I am hosting a 28 Day Self Love Challenge, beginning February 1, and I personally invite everyone to join. To learn more, follow my Facebook page: “Freedom Within By Amie Lee” or message me at Freedom Within by Amie Lee FreedomwithinbyAmieLee.com
January is a time people often focus on wellness. Please enjoy this personal story.
Path to wellness and happiness with adaptive fencingby Caterina, Leonardo and Tommaso
Tommaso and his coach.
“Usually we are used to saying that sport is life. We can absolutely confirm that it could not be more true! We have experienced it with our son, Tommaso, a 6-year-old child with titinopathy using the wheelchair as he cannot walk.
Since the very beginning, Leonardo and I had in mind the idea to support Tommaso and give him the possibility of playing an inclusive sport, beyond the physiotherapy.
So we were looking for an inclusive sport in which there are no differences and that may allow Tommaso to play with others, beyond the toys and games he plays at home.
Sports may create peacefulness and awareness that there is a “life to live” beyond the daily routine of hard work and commitment. I can also add strong and long-lasting relationships, passion and satisfaction.
A sport that allowed him to spend time that was not therapy or therapeutic and that allowed him, for a moment, not to think: “I have to do it because otherwise my muscles will throw a tantrum” but “I want to do it because I love and enjoy it”. Additionally, for us, as parents, it would be a breath of normal and simple life, taking care of our child also his happiness and not only for the several hospital (pivotal) appointments.
In October 2021, we had the chance to create a link with the “U.S. Pisascherma” Association https://www.uspisascherma.it/ and we found everything we were looking for.
We saw Tommaso for the first time, tired (as we are used to see after the physiotherapy or a relay in the hospital) but with his heart full of happiness. It was the greatest feeling for us, as for the first time we were dealing with so much positive emotion that is impossible to describe with words. For that moment, we almost forgot about titinopathy with all that it entails.
Tommaso began to attend the school of the “U.S. Pisascherma” Association where he was trained by professional trainers that never made him feel different. We saw so many improvements, not only at the psychological and emotional aspects, but also the respiratory ones. During the last check, done in December 2022, Tommaso in fact carried out spirometry from which it emerged that the restrictive respiratory pattern he had the previous year, at the moment, seems to have passed.
We tell this story hoping many children suffering with titinopathy can take it as an example and our wish is that more and more children can play sports.
On November 29, 2022, people all around the world are coming together to tap into the power of human connection and strengthen communities and change our world. Will you be one of them?
Team Titin will be participating in GivingTuesday and we need your help! Our mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders.
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!!
Members of Team Titin, including Consumer Reviewer Foye.
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.
Exciting news about research funding for people with TTN-related health conditions!
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.
