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Barth Syndrome Foundation Inc

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Nonprofit Overview

Causes: Birth Defects & Genetic Diseases Research, Health, Heart & Circulatory System Diseases & Disorders Research, Pediatrics, Philanthropy, Philanthropy, Voluntarism & Grantmaking Foundations

Mission: The Barth Syndrome Foundation (BSF) is dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome (BTHS).

Results: Our efforts have provided educational resources to transform families from powerless by-standers to empowered advocates.

Geographic areas served: International

Programs: BSF sponsors a competitive research grant program to facilitate advances in Barth syndrome (BTHS) understanding and to encourage the discovery of new treatments.  We are interested in providing “seed grant funding” to young investigators as well as attracting experienced investigators new to the field of BTHS basic science or clinical research. We anticipate that these funds will be used for the testing of initial hypotheses and the collection of preliminary data leading to successful long-term funding by the National Institutes of Health (NIH) and other major granting institutions around the world.

Community Stories

162 Stories from Volunteers, Donors & Supporters

7 Florence6

Client Served

Rating: 5

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

Professional with expertise in this field

Rating: 5

I participate in research and patient care of patients with Barth Syndrome and would be unable to do this work without the incredible work and support of the Barth Syndrome Foundation. It is a warm and genuine community and I am grateful to collaborate with them.

Client Served

Rating: 5

I have seen first hand how tirelessly BSF works for the good of our Barth family. Educating, informing, connecting, advocating...all with great honesty, integrity, dedication, and the utmost compassion. Very thankful to have BSF in our lives!

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1

Client Served

Rating: 5

As I’ve said before, an upstanding organization that is truly changing the lives of people affected by Barth Syndrome, both affected individuals and their families. Thankful for their hard work, compassion, and determination.

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Cristy Friar B.

Volunteer

Rating: 5

BSF is attentive to every individual with Barth syndrome while also driving a very impressive strategic research agenda!

Client Served

Rating: 5

A truly inclusive, informed and dedicated organization who have been our lifeline since our precious son was diagnosed. In a world where your child is only one of fewer than 300, life can be isolating and terrifying. BSF has galvanized the international community of affected families, researchers, medical professionals, volunteers and donors through the perfect understanding that it is only through our collective efforts and resolve that we will ultimately triumph over this extremely rare and devastating condition.

Definitely a 5 -star PLUS non profit!

Eliana P.

Volunteer

Rating: 5

It has been amazing to find support and answers. They have given us so many answers and support in this unknown sindrome

Professional with expertise in this field

Rating: 5

The BSF is highly supportive of young investigators in the field and this has undoubtedly led to the furthering of our understanding of BTHS and therapeutic development for this rare disease. The conferences are extremely well planned and enable crucial interactions between patients, families, clinicians, and researchers. - Christina Pacak

Professional with expertise in this field

Rating: 5

I've been involved with the BSF since its inception, 20 years ago. I've been a researcher and still am a volunteer -- I would no longer be involved if they were not first rate: in fact, they have exceeded all expectations in such a short time. This is because of a clearly defined sense of mission of the leaders. There is a mission of achieving therapies and perhaps even a cure, done purposely and scientifically, no shortcuts, no snake oil. In addition, there have been excellent additions to BSF's offerings in the form of Family Services and support. Families with Barth syndrome children find hope and love.

Previous Stories

Professional with expertise in this field

Rating: 5

When BSF was founded in 2000, when so little was known or understood about Barth Syndrome, I never expected that it would lead to so much progress: in less than 20 years, BSF has brought together a large number of researchers that collaborate; lifespan has increased dramatically with better understanding of the disease mechanisms; BSF-funded research has led to 2 clinical trials seeking to alleviate the disease; BSF offers excellent educational materials for families; BSF offers tremendous support to affected families thru their Family Services section. The future looks very hopeful.

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Professional with expertise in this field

Rating: 5

BSF is a wonderful supportive and knowledgeable patient organization run by excellent and enthusiastic parents and patients.
The organization have spurred scientists to dedicate their work to elucidate the nature of the disease and come with useful thoughts about potential cures.
Care in the broadest meaning of the word and science are brought together in a translational approach to improve life by means of BSF's efforts

Client Served

Rating: 5

When our son was diagnosed with Barth Syndrome, which is very rare, we did not know where to turn to. Within 24 hours we received a call from members of the Barth Syndrome Foundation and they have use Information of the disease as well as questions we should be asking to get better healthcare for our son. We were able to meet other families with children that also have Barth Syndrome. It gives us a community that understands not only the struggles of our children but also the struggles of the parents that take care of our amazing kids. BSF also is leading the way in finding new medicines and such that will hopefully help children like mine live a more normal life in the future. While this community is small it has been an amazing resource for many and will continue to do amazing things in the future.

Professional with expertise in this field

Rating: 5

BSF Inc. is a great non-profit organization combined with patients and their families, clinicians and scientific researchers, and volunteers, offering warm and family-like but most efficient work from beginning to nowadays.

Kendal L.

General Member of the Public

Rating: 5

Every two years BSF brings doctors, researchers, and families together in an effort to conquer this terrible disease. They have a strong presence on Facebook and continually support individual families with their daily challenges. BSF shows their community compassion, strength, and hope through knowledge and endurance.

Professional with expertise in this field

Rating: 5

Wonderful organization connecting patients, families, physicians, and researchers in a collaborative effort to improve and save patients' lives!

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1

Professional with expertise in this field

Rating: 5

The Barth Syndrome Foundation does it all: serves as a tight-knit community for affected patients and families; advocates for their community; provides a vast array of educational materials; and helps fund critical research into this rare mitochondrial disease.

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Professional with expertise in this field

Rating: 5

Je suis le papa d’Antoine atteint du syndrome de barth.

Client Served

Rating: 5

BSF has been an immense support for me in coping with this syndrome. I can get all the support and information that I need from them. They always actively support research and try to gain knowledge about the desease. This is very much needed for future treatments and maybe a cure. This gives us hope.

Donor

Rating: 5

The Barth Syndrome Foundation is our savior!! Whenever we need to compare notes with other parents of Barth Syndrome boys or check on the latest research being done to eventually cure the disease we turn to the foundation and it's many active members and listserve for support. They have been crucial in helping us cope and our son to thrive with Barth Syndrome. My son Abram would not be with us today had we not found out about the Barth Syndrome Foundation.

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1

Client Served

Rating: 5

I am 100% certain my son would not be where he is today without the Barth Syndrome Foundation. They have a listserve for parents of affected boys to communicate globally about nuances of the disease. They have two DNA registries which are helping researchers work towards a cure. They have a bi-annual conference that is both for families and scientists to meet and share information/data about the disease. They support and recognize all the members who do fundraisers to help find a cure for our boys. It is truly a world class foundation and I am so proud to be a part of it.

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Eneida J.

General Member of the Public

Rating: 5

Nick was diagnosed @ 4 yrs old. Since then we’ve had some struggles but thank god he’s over came them. We take life one day at a time

Laura N.3

Client Served

Rating: 5

Our son was diagnosed before his first year with a life threatening condition, Barth Syndrome. Barth Syndrome Foundation has been a part of making almost all the published and online information that is available about Barth. Without BSF, we wouldn’t have known how to care for our son or give him his best chance at a long full life. I tear up thinking how much they’ve done for us. Thank you BSF!

KateMcC

Volunteer

Rating: 5

BSF is a lifeline for those with this rare disease, a global center of knowledge about this disorder, and catalyst of advancement for those working to find treatments for it.

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2

Board Member

Rating: 5

The Barth Syndrome Foundation (BSF) is the only organization in the world focussed on this rare genetic disorder that affects mostly boys. This organization really serves as the center for information and activity on this life-threatening, complex disease. It has a world-class Scientific and Medical Advisory Board, offers research grants, organizes and sponsors top-notch international conferences every two years (with separate tracks for scientists and doctors and for families), provides important information and a supportive community for affected individuals and families, and offers a website and other materials for anyone who wants to learn more about this complicated, metabolic disease. Though a small organization, BSF is well-regarded among rare disease groups, since it is has been able to accomplish a great deal and continues to work diligently to do more. I know that it has made a difference to our family and to our son who has Barth syndrome. Not only is he no longer alone, but I believe that the scientific and medical advances that have been made with BSF's help have saved his life.

General Member of the Public

Rating: 5

Life-saving organization! Our son is affected, and BSF has been there from the beginning. Disseminating information to public, healthcare professionals and always seeking out newly diagnosed families. Once you are a member odf a rare disease club, you become an expert, and best advocate for your child. BSF is there to help you do that!

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1

Client Served

Rating: 5

BSF is truly an amazing organization. They are a lifeline to families and individuals affected by Bart Syndrome. The wealth of knowledge and information, compassion and understanding, friendship and hope, that comes from being a part of an active, professional and caring foundation is beyond words. Barth Syndrome Foundation is simply phenomenal.

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Client Served

Rating: 5

Because of the Foundation I learned about my sons illness I will forever be grateful to them for there support and information. They are our family and we love them very much.

Susan Hone

Volunteer

Rating: 5

I have been involved with BSF since it's beginning. I don't know what I would do without it. So much support and knowledge from a great group of parents, doctors, therapists, scientists and many other people. So many people working together to help people with Barth syndrome find a treatment or cure.

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1

Board Member

Rating: 5

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.

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Donna67

Client Served

Rating: 5

The Barth Syndrome Foundation is small but mighty. They provide amazing family support as well as provided resources for families and medical professionals. They have spent funds wisely and have made incredible inroads in research and have provided us with hope. 20 years ago I had very little hope for my son but now I am incredibly hopeful of treatment and even a cure.

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1

Client Served

Rating: 5

The Barth Syndrome Foundation has made such a difference to our lives. I feel we owe the health of our son to their hard work and determination. They offer so much help and support and for a rare disease with only approximately 200 boys affected world wide they have incredibly got to the stage of starting clinical trials in the very near future. They are amazing.

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Ian C.1

Client Served

Rating: 5

My son Colin Campbell-Gillies was greatly benefitted by the Barth Syndrome Foundation. On two occasions he and his mother Alison Thyne travelled to USA to be part of ongoing investigation into this disease. In this time Colin found friendship and purpose.

1

Volunteer

Rating: 5

We met BSF in the worst period of our life.
Really special people took care of our fear giving informations and hope.
Now we wish working as an affiliated organization will bring the same feeling in other Barth families in our country.
This gives meaning to pain.

1

General Member of the Public

Rating: 5

So many lives saved by this great organization !!!
What We know about this syndrome has been learned because of this foundation

1

Client Served

Rating: 5

BSF has been part of our life since our grand-son was diagnosed about nine years ago and today we can't imagine how we and Jules' parents would have coped with the syndrome without the support of that wonderful foundation. This is the right place to get information, help, advice.....It also enables its members to share their experiences via the Listserv and this is extremely valuable when, as it is often the case with rare diseases, you don't manage to get answers to your questions anywhere. It is comforting to know that thanks to BSF and it's great team research is progressing, members can meet at their Conference, new cases are diagnosed thanks to their awareness campaigns... We are very grateful to everybody who makes all this possible every day.

,

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2

Client Served

Rating: 5

BSF, an amazing organization: its excellent website and newsletter give us information about the medical and daily aspects of the disease and also about the progress of the research financed by the Foundation. Bringing people together via the Listserv or the conferences and allowing them to share their experiences and to get help and advice is also quite appreciated. Our Thanks to the dedicated team that makes BSF so invaluable for all affected individuals and their families.

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1 Kelsey B.1

Client Served

Rating: 5

Our son Wally has Barth Syndrome and without the Barth Foundation we would have not made it these past 8 months! The people are amazing and the work they do... to help find a cure for our boys... well there aren’t enough words. We love the Barth Foundation and our Barth Family!!

1 Jordan S.2

Client Served

Rating: 5

My brother (19) is affected with Barth syndrome, every 2 years we try to make the biannual conference if possible. The work they do and the support they provide is wonderful, the whole BSF community as a whole is like one big family and I couldn’t have hoped for anything more

2 amywilson82

Client Served

Rating: 5

Awesome group of people who are dedicated to new treatments and support for each and every patient and family. Small but mighty group! If I had to live this life without them it would be devastating
#teambarth

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2

Client Served

Rating: 5

This foundation goes over and beyond for the many families affected by this tragic and horrific syndrome. From advice to messages of faith to keep our spirits up in the darkest hours, to the great medical and family conference. We are a small but mighty group. I wouldn't trade this foundation for ANY OTHER!

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1

General Member of the Public

Rating: 5

I have watched a dear friend lose two sons from this disease. Since then she has worked tirelessly to research it hoping to find a cure. This Foundation has great people that are so involved in trying to find a cure.

1 Jasmine C.2

General Member of the Public

Rating: 5

When we got the diagnosis for Caleb there was an overwhelming feeling of isolation. A feeling like nobody "got it", nobody knew what we were feeling and facing. We were overwhelmed and exhausted from all the research we were trying to do. Caleb was given a diagnosis that in a sense is invisible to most people. The world would not understand our challenges, they wouldn't feel our pain and joy from the smallest bit of progress. The weight of this diagnosis, the uncertainty of his future, it stole our breath and exhausted us. And then we found the Barth Syndrome Foundation. We found a community, a family that live in this same world we'd entered, that understood our pain and our fears, a family that could give us resources and real life experiences. Finding the foundation gave us comfort and hope and strength that we needed to continue on the journey alongside Caleb.

1

Donor

Rating: 5

Opened my eyes to a syndrome I knew nothing about! This organization is very passionate and well organized! Thanks for all you do!

1

General Member of the Public

Rating: 5

Wonderful organisation, fabulous source of information, great support for my son and our family. Always striving for the good of everyone through research, family services and support for our rare condition.

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4

General Member of the Public

Rating: 5

Amazing source of support, information and knowledge! BSF is always striving for the good of everyone and for that I can only thank them! It is amazing to see how BSF has helped and changed so many of our lives in a positive way. While it is always wonderful to look to the future I also think it is wonderful to look back and see how truly amazing this organisation has came in such a short time and that is testament to the beautiful souls who work tirelessly for the good of everyone....thank you from the bottom of my heart!!

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1

Client Served

Rating: 5

Barth Syndrome Foundation has literally helped our family in so many ways, there is not enough Thank yous in this world to thank them enough for what they've done for my son and our family. They are always there for us in any way we need them.

Previous Stories
5

Client Served

Rating: 5

The Barth Syndrome Foundation came into my life just this year when my son was born in March 2012. Having my first child was an amazing experience, but once he showed signs of heart failure it brought me to my low. I was happy but yet worried, especially when your two day old son goes to the NICU after he was born. Thank god we caught his heart issues and breathing issues right away, otherwise it would of been no good for us going home with him ourselves. It scares me everyday with this deadly disease my son has called, Barth Syndrome. As of now he is doing good, thanks to all of his numerous doctors and constant doctor visits. It takes alot of strength to stay strong and keeping strong not knowing what will happen each day with my son, but I do and that's all I can do. The Barth Syndrome Foundation has been a tremendous help with dealing with this disease. Everytime I am worried, I talk with other parents who are worried about the same thing with their son, it's nice because we all understand where eachother is coming from. It's nice we actually all became a family. I was told to take each day by day and that's what I am doing. My son is doing good now, but I don't know what the future holds, but I hope it holds a cure for these wonderful, amazing little boys who are soo strong and who are LOVED unconditionally.

1

Client Served

Rating: 5

BSF is both a family, and support group. A huge source of information, in a world, where there isn't much . We never feel alone. BSF gives us the strength and hope to live with Barth Syndrome. We are a small but MIGHTY group. The foundation is always in open arms for new families in need. We are #teambarth!

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2

Client Served

Rating: 5

This organization has far exceeded any expectations in helping us cope with this horrible disease!

1 Shawana Dion S.

General Member of the Public

Rating: 5

Ever since we found out 2 years ago that our son had this disease called Barth syndrome, this organization accepted us with open arms and has let us know everyday that we are not alone in this fight. This organization has done everything if not more to try and find a cure and is still searching. This organization needs more help in research to carry on this search for the cure. This disease is very rare and deadly, so please help this organization. They are worth every penny. Thank you,
Sienkos

1 Peter van L.

Client Served

Rating: 5

The Barth Syndrome Foundation is a true example of how groups for rare diseases should be run. The way they bring patients, families, doctors and scientists together is unique and the amount of knowledge gathered in its mere 18 years of existence is mind blowing.

1

Professional with expertise in this field

Rating: 5

The Barth Syndrome Foundation is a caring and committed, worldwide community that includes patients, families, scientists, physicians, and other healthcare professionals. Nothing like it that I've ever worked with.

1 Shelia M.1

Client Served

Rating: 5

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

1

Board Member

Rating: 5

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

1

Professional with expertise in this field

Rating: 5

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.

1

Client Served

Rating: 5

This foundation helps so many people and brings them together.

1

General Member of the Public

Rating: 5

Barth syndrome has affected many members of my family. The Barth Sydrome Foundation is a great resource full of knowledge, compassion and understanding.

1 Laura153

General Member of the Public

Rating: 5

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.

1 Pat C.2

General Member of the Public

Rating: 5

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.

1

Client Served

Rating: 5

Amazing support, help and hope for those affected!

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Client Served

Rating: 5

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.

1

Client Served

Rating: 5

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.

1 Grant H.

Volunteer

Rating: 5

This is a wonderful organization that supports family members with Barth Syndrome and focusses on addressing the cause and cure of the disease.

1 Jules L.

Client Served

Rating: 5

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

1

Client Served

Rating: 5

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.

1 Nicole70

Client Served

Rating: 5

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.

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3

Client Served

Rating: 5

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.

1

Board Member

Rating: 5

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.

Previous Stories
1

Board Member

Rating: 5

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.

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1

Board Member

Rating: 5

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.

1

Volunteer

Rating: 5

This group has been incredibly welcoming to me as a volunteer. They are passionate, organized and focused. I have never worked with a group this amazing.

1

Donor

Rating: 5

Our son had a tentative diagnosis at the age of 2 but for years we knew of no other living child with Barth syndrome. It was a lonely and terrifying time. The Barth Syndrome Foundation has created a community of families who provide support and learning to each other. Even better, BSF has funded research into the causes and potential cures for this deadly disorder. Our son lived for almost three decades before Barth syndrome took him from us, but since BSF has been around we never felt lonely and we never lost hope for a cure. This organization is a model for rare disorders and those who suffer from them!! Thank you, BSF!

1

Client Served

Rating: 5

As mother to a son with Barth Syndrome this foundation is a total life line, and I mean that literally! This condition is rare and complex, so to know that there is a forum to share wisdom and expertise not only from other parents but also with medical and scientific specialists and experts in their fields and from around the world is nothing short of remarkable, you can't imagine how supportive that is and how there can never be enough thanks given! This is a picture of Jack holding his 100 books certificate at our local library.

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5

Client Served

Rating: 5

When I found out my son had Bath Syndrome it was overwhelming in every way. BSF have been a TOTALLY INVALUABLE resource in so many ways. Clear information for me as a parent, for medical professionals, help with planning school placements and a mine if useful information I didn't even know I would need ! Alongside this the opportunity to hear from other parents, give and receive support and understanding from someone who knows what it like. Via the list serve and also at our local clinic and family fun days. Thank you BSF YOU ARE AWESOME

1

Client Served

Rating: 5

Couldn't wish for a better foundation and community! This is such a wonderful group of dedicated families and professionals seeking to support and ultimately cure our barth guys. We have been in touch with this organization for the last 5 years and our life has since been enriched with understanding, support and hope!

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1

Client Served

Rating: 5

Connecting with the Barth Syndrome Foundation changed our lives.

We are parents of two boys. Max (now 7) and Brady (now 6). Before joining the BSF community, we had noticed that Max had low muscle tone and after a few years of research finally got a Barth diagnosis for him. Brady on the other hand, showed none of the symptoms.

Once the diagnosis achieved, we still had little input as to what to do to help Max. We saw many doctors, all very nice and keen to help. But at the end of the day, a lot of the work went towards monitoring, and little of it towards helping/improving.

After connecting with BFS, we felt like we had finally met 'our people'! Parents sharing stories and observations. Doctors providing recommendations that we could pass along to Max's doctors. Friends caring for each others.

We now finally feel that we can help our Max. He is a wonderful 7 year old, full of curiosity and wit. It's a great feeling and we are convinced that through the persistence of BSF and the network with our doctors, a cure will be found.

1 Kristi P.

Volunteer

Rating: 5

Being the parent of a child with a rare disease of less than 200 known affected males makes for a very isolating and lonely scenario... Being told by countless doctors that they have never heard of the condition, even more so.
But thanks to Barth Syndrome Foundation, they close that gap.
They provide endless information and support. They connect the families which are scattered over the world.
The information provided to families and physicians by BSF is invaluable and at times lifesaving. And now, thanks to BSF, we are even on the verge of a possible breakthrough treatment! I cannot say enough about BSF, my extended family. In a world where my son is extraordinary, this is the one place to come where he can feel ordinary.

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1

General Member of the Public

Rating: 5

We will always be so grateful for Barth Syndrome Foundation.
More than seven years ago, our journey began in a way that the majority of this world will be lucky enough to never experience.
The future was bleak and we felt very alone.
Our newborn was in heart failure and given a very poor prognosis. He was placed under hospice care at 45 days old until the age of 15 months when he overcame.
Along the way, Christopher has defeated many odds and obstacles, including hospice, a stroke and a current medicine regimen of thirty two doses a day and two injections a week.
Throughout it all, he remains positive and happy. Our faith has carried us through many dark times.
And Because of Barth Syndrome Foundation, we have been given HOPE, a support system and life saving information.
We no longer feel so alone being able to interact with other families with similar daily challenges.
Our BSF family is the best part of this horrific diagnosis.
We are blessed to be given HOPE through seeing the older boys and men grow stronger and be productive members of society and even start families of their own!
Together, the efforts of Barth Syndrome Foundation, the supporters and scientists who are tirelessly dedicated to our guys, we have tangible HOPE of several possible treatments for which there are currently none.
We have HOPE for a cure someday.
Because of Barth Syndrome Foundation, a once 100% fatal diagnosis now before the age if three has HOPE for a prolonged survival rate.
We feel that Barth Syndrome Foundation has played a role in the survival of our own son.
But there's still so much to be done.
We are still suffering the loss of some incredibly precious men and boys.
We have HOPE for a future in which Barth Syndrome never cause suffering or loss of life again.
We have HOPE that each boy will receive a diagnosis that will undoubtedly help their chances of survival and quality of life.
We HOPE that you will join us this giving Tuesday, December 1, 2015 in supporting Barth Syndrome Foundation. What will YOU give?
www.barthsyndrome.org

Review from #MyGivingStory

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1

Client Served

Rating: 5

From the moment our son was diagnosed with Barth Syndrome, BSF has been there for us. With every step of the way on this journey,we know we can lean on BSF for expertise, support and understanding. Someone once said to me that living with a child with Barth Syndrome is like living in a constant state of terror, waiting for something to happen every day. Barth Syndrome foundation makes this live easier to face every day. BSF gives us hope and tools to deal with it. You will never find a group of more dedicated parents and professionals.

1

Client Served

Rating: 5

When our grandson passed away at age 6 months from what was later diagnosed as Barth Syndrome we were desperate for information about this extremely rare disease. Finding the Barth Syndrome Foundation (BSF) has been a Godsend. Not only were we personally contacted, but also invited to gatherings where we could speak with other families of boys suffering with Barth's. We now have a second grandson living with Barth Syndrome but because of the tireless efforts of the BSF to disseminate the latest information on treatments and to connect him with doctors and specialists worldwide, there is hope that he may grow up and live a productive life.
In spite of the fact that Barth Syndrome is so very rare the BSF has created opportunities to get to know and share experiences with other Barth boys, men and their families, and with researchers and specialists searching for a cure. The Biannual conference arranged by the BSF ensures that this happens and that as many families as possible may attend.
Barth Syndrome Foundation. Truly amazing. Truly family.

1

General Member of the Public

Rating: 5

My son was diagnosed with Barth syndrome in February of 2016. Barth Syndrome Foundation provided invaluable information to help navigate the struggles associated with this rare genetic disorder. We've met several families through BSF that share my son's diagnosis and have been able to learn even more. Barth Syndrome Foundation truly is, a great nonprofit...

1 Zaza K.

Professional with expertise in this field

Rating: 5

Barth Syndrome Foundation's commitment to advance an awareness and science behind this enigmatic killer makes BSF truly the Best nonprofit organization.

1

Advisor

Rating: 5

BSF is the Little Engine that Could! Barth Syndrome affects a very small number of families but the effects can be devastating. BSF serves affected families, supports clinical caregivers with up to date information for this complicated multi-system disorder and has funded almost $4M in competitively awarded research grants in the last 10 years. They run an incredibly well attended International Science, Medicine and Family Conference every two years, the next is coming up in July of this year. They are an invaluable resource for all three groups and a model organization for such a rare disorder!