BSF is both as a family, loving, helpful and supporting, and as a huge source of information. Even if our son is affected by a rare disease, we never feel alone, and BSF give us the strenght to live with Barth Syndrome, and give us hope that the future of our kids will be brighter
My son has been living with Barth syndrome now for 20 years. We were told early in his life that he might not live past 4 years of age.
But because of The Barth Syndrome Foundation's work, efforts and research, our foundation is now offering clinical trails for new medications and we are really close to seeing gene therapy offered to potentially cure our boys and men. We never thought we would see this in our son's lifetime.
The Barth Syndrome Foundation (BSF) has given our family hope for a cure and has given us guidance on how to help our son live a wonderful life. We also have an entire new family of amazing people in our life that we have met through the Barth Syndrome Foundation. Getting to see most of these folks every 2 years at BSF conference helps us feel no longer alone in this fight against Barth Syndrome.
We will win this fight because of these Amazing Barth boys and Barth men who have participated in the research to gain knowledge about this disease. I know The Barth Syndrome Foundation will not give up until we win this fight.
Thank you BSF‼
Shelia Mann, parent & volunteer
Barth syndrome foundation, a multiple success story
Five years before the founding of Barth Syndrome foundation (BSF), I met Mrs. Shelley Bowen at the university children’s hospital in Amsterdam with her son, who was affected by Barth syndrome. Following the examination which confirmed the diagnosis we came to discuss the need of enhancing awareness of Barth syndrome by reaching out to affected families and their specialists. Upon coming home Mrs Bowen energetically started a network, ultimately spanning the U.S.A. and many countries, reaching out to affected families. But also, together with a small group of parents, she started to garner interest among specialists from various disciplines, as well as scientists. In the course of time this initiative grew to become one of the most successful endeavours in supporting patients and their families with a rare inherited disease. A website, acting as an international forum for parents and patients has become hugely popular, helping with information, support and advice. Simultaneously, efforts were made to promote clinical and basic research on Barth syndrome. The biannual meetings of which I was privileged to attend the first three have become very popular, attracting many affected families, medical specialists and scientists, all interested in Barth syndrome. All these activities have resulted in the creation of a unique community which encompasses patients and their families, clinical specialists, basic scientists, and organizational experts all dedicated to Barth syndrome, and communicating on one level without barriers. As a collateral result of this success funds could be attracted which enabled the scientific board of BSF to distribute annual grants supporting Barth syndrome related studies. Applications are screened by the members of the scientific board, and selected for funding by independent expert review and advice. As a direct effect of these activities Barth syndrome has become a regular feature in scientific journals. Also in the last years the focus of this research is now slowly moving from observational to therapeutic. Inspired by the success of BSF in the USA, similar societies focusing on Barth syndrome have now arisen in Canada, the U.K., France and Italy.
Peter G. Barth, Emeritus professor of congenital diseases of the nervous system, Emma Children’s Hospital, University of Amsterdam, the Netherlands.
the attached photo shows boys with Barth syndrome whom I was privileged to meet, during the first BSF meeting in Baltimore
I have worked with the Barth Syndrome Foundation for more than 15 years as a physician and a researcher. They are well organized and focused on education and advancing treatment for Barth Syndrome for families, scientists, physicians and health professionals. They have a terrific record of funding research, including clinical, basic science and translational research. They have a unique conference every 2 years that brings together families, scientists and clinicians. The foundation continues to grow and is a model foundation for rare disease advocacy.
Barth syndrome has affected many members of my family. The Barth Sydrome Foundation is a great resource full of knowledge, compassion and understanding.
Because of Barth Syndrome Foundation my grandson, and our family have a second family. BSF has given those suffering with the condition much help and hope for a better, stronger, hopefully longer lives.
They have given us knowledge about what Barth syndrome is. They have brought the family closer together. If is amazing how far the organization has come.
Amazing support, help and hope for those affected!
With BSF I found a very supportive Community. I feel not alone anymore. They are of great importance for the charing of experience about the Syndrome.
I am a parent of one of the men with Barth syndrome and I know first hand what life was like before the Barth Syndrome Foundation was in existence--we did not know another soul going through what we were, we had no information, and we were completely isolated and alone. Very different from what life is like now! BSF is our connection and our lifeline to the dynamic Barth syndrome community in all it's forms; Barth families from all over the world, physicians, researchers, the incredibly dedicated BSF staff, volunteers and our amazing donors who stand with us. I'm so thankful that the foundation has been dedicated from its beginning to finding treatments and eventually a cure for this awful and very rare disorder. BSF has a first class Science and Medical Advisory Board and a research grant program that funds cutting edge research. My son has had the opportunity to participate in research studies over the years and now is participating in a Barth syndrome clinical trial. This is real progress that offers all of the people living with Barth opportunity and hope. For any of us with Barth syndrome in our lives, if we have a question, a concern or just need to vent, we have that chance thanks to BSF. It is truly a trusted place for a growing amount of information related to Barth syndrome. The lives of people affected by Barth syndrome would look VERY different without BSF, I cannot state strongly enough how grateful my family is for the Barth Syndrome Foundation.
This is a wonderful organization that supports family members with Barth Syndrome and focusses on addressing the cause and cure of the disease.
Barth Syndrom Foundation really matters in our lives. Clear and useful information, advice, shared expériences, a conference involving top researchers and families..... All this means an enormous support and gives us hope for a treatment. Jules et Madeleine Lallemand
My son has a rare disease called Barth Syndrome. The Barth Syndrome Foundation reached out to us after his diagnosis to offer help, guidance and support. Since the time that we have been with the foundation, it has allowed us to meet and talk with other families that are dealing with the same issues. It has also given us hope, support and guidance with our son. It has been great for our son to meet other boys that are affected with the same disease.
This organization has far exceeded any expectations in helping us cope with this horrible disease!
My first son died when he was two weeks old. I had no idea he was sick. My world was turned upside down. At that time, I didn’t know about Barth syndrome.
Our journey began in 2002. When Nathaniel Joseph was born on September 9th, he seemed to be the picture of health. That is, until he died unexpectedly two weeks later. The cause of death was eventually determined to be dilated cardiomyopathy. We were told it was a fluke, a one in a billion thing. Nothing could have been done, and it would never happen again.
When I discovered I was pregnant again, just over a year later, I panicked. Numerous tests were performed throughout the pregnancy, and I was assured my baby had a healthy heart. However, when Devin James was born on July 22, 2004, he couldn’t breathe. He was rushed to the neonatal intensive care unit, where an X-ray revealed a severely enlarged heart. He was intubated and airlifted to University of Michigan's C.S. Mott Children's Hospital within six hours of his birth. I was terrified. I just couldn’t bear the thought of losing another child.
Devin spent the nine agonizingly long weeks in the pediatric intensive care unit, where he suffered complete heart failure and a full cardiac arrest. Eventually, my sweet baby underwent successful heart transplant surgery.
Barth syndrome had been suspected early on, but genetic testing performed prior to transplant revealed a mutation that had never been seen. Although Devin’s symptoms and family history indicated Barth syndrome, it was not considered enough for a diagnosis.
In 2006, I saw an episode of Discovery Health Channel’s “Mystery Diagnosis” that featured Barth syndrome. I immediately got in contact with Shelley Bowen, a driving force behind the Barth Syndrome Foundation. She urged me to look further into genetic testing.
After six months of additional testing, Devin was finally diagnosed with Barth syndrome at the age of 27 months, more than two years after receiving the “gift of life,” and four years after the death of his brother, Nathaniel.
This diagnosis is so important in many aspects of Devin's care, including nutrition, metabolism, growth, cardiac care, physical therapies, education, and more. Infection is constant worry. We once spent four days in hospital for a scraped elbow! Devin takes countless medicines and supplements. We know the emergency room all too well. Life can be hard as 13-year-old boy that is the size of most seven-year-olds. Add the suffering from muscle weakness, extreme fatigue, and lots of missed school – it just breaks my heart some times. As his mother, I worry constantly.
One light in this darkness is the Barth Syndrome Foundation (BSF). Thanks to BSF, we are not on this journey alone. Expertise is always an email or phone call away. Attending BSF’s conference enables us to learn so much about this incredibly rare condition, while spending time with families from around the world that are just like Devin. He is also seen at the Barth Syndrome Clinic at Kennedy Kreiger Institute, the only clinic in the US that specializes in Barth syndrome.
Thanks to BSF and the “gift of life,” I am the proud mother of a relatively healthy and happy 13-year-old boy. I am so grateful for the Barth Syndrome Foundation for helping Devin and all of his “Barth brothers” around the world.
There is not a doubt in my mind that my son is doing so well today because of the work of the Barth Syndrome Foundation (BSF). Having 2 children born with Barth syndrome, I know all too well the effects of this devastating disorder. After losing my first son at 2 weeks of age to an undetected heart condition, I was told it was likely a fluke and to try for another baby. Imagine the surprise and absolute horror I felt when my second son was born with the same heart problem. Thankfully it was detected, and my second son underwent successful heart transplantation at 9 weeks of age. The awareness raised by BSF led his doctors to believe BTHS may be the cause of his heart failure, so they sought the input of a BSF affiliated cardiologist before listing him for a transplant. It was on the advice of that cardiologist that Devin was listed for, and eventually received, the donor heart. Although his cardiac health improved post transplant, BTHS is a multi-faceted disorder, and the work of BSF has allowed us to manage all of the other facets. Finally, the support and camaraderie offered by a group of people affected by such a rare and devastating disorder is made possible by BSF.
Barth Syndrome Foundation is a first-class organization all the way. Everything they do is mission-driven with the goal of finding treatments and a cure for Barth syndrome.
I've been involved with BSF for about 10 years now and I can't speak highly enough of this great organization. For a small group focused on a rare genetic condition, it's amazing to see the impact they have. The Foundation has raised millions of dollars for research into Barth syndrome, has raised awareness among the medical community and is always there for parents in need.
I have known the Barth Syndrome Foundation (BSF) for more than a dozen years and have watched it serve families with support and information, invest in research and dedicate itself to educating physicians about this extremely rare illness. With a small staff and big plans, BSF is now working hard on treatments, including the beginning of clinical trials. This small organization supports scientific research every year through carefully selected grants vetted by a world class Science and Medicine Board. BSF meets the standards of the Better Business Bureau and the National Health Council. It is an extraordinary organization.
As a scientist that interacts with affected families, I just want to state that BSF not only supports families with information, moral support, meetings, but very importantly has supported (& continues to support) research into the causes of Barth syndrome and potential therapies; this is now coming to fruition in the form of two clinical trials -- all in just 17 years since BSF was created.
Honest, sincere, compassionate, and hopeful group of people. Would not wish the experience of having a loved one with Barth Syndrome, but so very thankful that we have this group in our lives!
I wouldn't wish a child with health problems on anyone, but I am so thankful that we have the support of the Barth Syndrome Foundation. What an honest, inspiring, compassionate, selfless, professional, and personal organization. I have been nothing but pleased and impressed with every interaction I have had with the Foundation in the past 2 years since our diagnosis. The individual families affected by Barth Syndrome truly make up one united family, lifting each other up when needed, providing advice and experience tastefully and tactfully, rejoicing and grieving together. And the Family and Medical Conference is superb! Amazingly pulled off by a small, but wonderful team running BSF and done so well. Cannot say enough good things about BSF! As parents of a son with Barth Syndrome, we so value and appreciate the Foundation for so many reasons.
After losing one son to Barth syndrome I was determined not to lose another. Finding the three women who were looking for others whose children had Barth syndrome was one of the luckiest days of my life. They arranged a meeting and people from all over the world came. Barth Syndrome Foundation was formed. Seventeen years later we are doing clinical trials on potential drug therapies. Amazing! My son and many others will have a better future because of this foundation. I am honured to be a part of the Board of Barth Syndrome Foundation of Canada, an affiliate of Barth Syndrome.
I would be totally lost without the advice, support and knowledge of this group. In the 16 years since it was decided to establish the foundation we are already heading into clinical trials to treat this horrible syndrome. Thank you to everyone involved