“Saving lives through education,
   advances in treatment, and
finding a cure for Barth syndrome”

Meet The People We Serve

The magnetism of these boys and young men is undeniable. Numerous articles have featured the heroic stories of their journeys. If you have been one of the lucky people who know or have met a child or young man with Barth syndrome, you know how incredibly special they are. Although Barth syndrome causes them to endure many debilitating conditions such as heart disease, arrhythmias, neutropenia, and extreme fatigue, these extraordinary individuals are recognized for their intelligence, wit, and gentle nature.

Featured Story

 
 

Meet Jacob

Jacob Anthony was born August 22, 2000 after a normal pregnancy. According to his mother, Amy, as an infant he had a normal appetite. He was behind on some things but nothing that would indicate that she or his physicians should be alarmed of. “You just trust that the doctors would tell you if something was off, you know?” said Amy. Jacob sat up later than other children his age and suffered from recurring ear infections. He had a hard time fighting them off and no one could explain why. Pulling up was more difficult for him due to overall weakness. Jacob started crawling around 8 months of age and began to walk at 14 months. But nothing seemed particularly abnormal until a week after his first birthday. On August 27, 2001, Jacob suffered his first seizure. This was said to be a febrile seizure caused by virus. Jacob went on to have five seizures altogether. Read more...


Meet The People We Serve

Aiden

In 1997, my entire family was genetically screened for Barth syndrome. I was 19 years old, and results identified my grandmother, my mum and myself were carriers of Barth syndrome. At the time, the results didn’t have any effect on me; I was in 2nd year university, and having children was the LAST thing I was concerned about! The results did impact my parents though. They had lost their first-born son in 1970, my brother, Craig. Read more...

   

Aldo

Every time I am with someone from the Foundation or at the conferences I feel like I am with a family that I have known my whole life. With people outside of the Foundation it is so different because they are always worrying that something might happen or they move ahead in life because I am too slow or get hospitalized. With the Foundation... Read more...

   

Alfie

My name is Allanna and my husband is Tommy, we have two sons, Jay and Alfie. Alfie was born in September 2000. Alfie was a very sleepy baby and didn't seem interested in feeding and this, along with very odd bright green stools, was a concern for us. We spoke with our community midwife and after three days at home, Alfie was re-admitted into hospital. The doctors thought that Alfie's liver looked a "bit bright" and this, along with the fact that there was other family history of cardiac issues, made them transfer him to Yorkhill Children's Hospital. Read more...

   

Andrew

I was diagnosed with Barth Syndrome at the age of fifteen. My diagnosis was a result of my cousin being diagnosed. Up until that point in my life I had never had any major complications, except for one instance right after birth when I went into heart failure, and had to be hospitalized for a week. I attended school regularly with only minor accommodations in middle school and high school, such as an extra set of books. I graduated from high school in 2007 and enrolled in Florida State University majoring in Real Estate and Finance. Read more...

   

Ben

"When a Barth sufferer gets sick, it doesn´t only affect him but affects everyone around him too, from family to friends. By finding a cure you will not only be helping the sufferer but also his family and friends. When a Barth sufferer passes away, it is not only traumatizing for his family but also for all his friends who also suffer with Barth syndrome and their family members in the Barth syndrome community.See Ben's presentation at BSF's 2010 Conference.

September 2, 1994 — November 17, 2010


Benjamin

Keli and I always wanted a big family. We were high school sweet-hearts and, even then, spoke of wanting at least six children! That desire has never wavered. As child bearing began, the Lord blessed us with twins and we never looked back. During a period of eight years, we received into our family six healthy children. Having babies seemed to go like clockwork. We never dreamed of a difficulty. Read more...

Keli and Greg, Ben's parents, share their journey of having two sons with Barth syndrome. One son died without the benefit of a proper diagnosis. A diagnosis didn't arrive until the mother was pregnant with a second son who would also have Barth syndrome. Learn how this family triumphed from heartache to save their second son and the difference the Barth Syndrome Foundation has made in their lives. Watch video...

   

Bly & Ty

My husband, D.W., and I joyfully welcomed our first child, Bly, into our lives on February 16, 2004. He weighed 6lbs 5oz, measuring 19 ½ inches long. Things went well for Bly the first 4-6 weeks, just a little jaundice the first few days and a slight, occasional cough. Then, it seems suddenly, that he didn‟t want to nurse as long, with his feeds being cut in half, and he also began vomiting occasionally. Read more...

D.W., Bly and Ty's dad, speaks about the dad-to-dad experience that happens during the Barth Syndrome Foundation biennial conference and the importance of fathers supporting fathers when raising a son who has Barth syndrome. Watch video...

Tracy, Bly and Ty's mom, speaks about the importance of a community that just "gets it". Watch video...

   

Bryn

Our first son, Rhys, died very unexpectedly of dilated cardiomyopathy on February 10, 2011. The autopsy revealed no indication of bacterial or viral infection, so a genetic cause was suspected. The pediatric hospitalist who delivered the report to us suspected Barth syndrome and encouraged us to see a genetic counselor. We had already made the difficult decision to get pregnant again by this time so she pulled some strings to get us seen right away. The counselor we saw went over our entire family history with us. Read more... 

   

Cameron

Barth syndrome, although we didn't know, has a long family history with us. My knowledge of it starts back with my Nan. She had two girls and a boy and then lost three boys in a row. Failure to thrive they called it, and from what I can gather Nan felt very guilty about these little boys and she suffered depression and was never the same after. Aunty then had a little boy and he never grew properly. He died around six months of age. Read more...

Cameron, and his brother Jordan, share their perspectives of attending BSF's 2016 Conference. Watch video...

Fraser, Cameron's dad, shares his perspective of what is it like to be a parent of an affected individual as well as his perspective on attending BSF's 2016 Conference. Watch video...

   

Christopher

Christopher was born April 25, 2008. At five days old, he was diagnosed with dilated cardiomyopathy and left ventricular noncompaction (DCM/LVNC). Within weeks, it was determined that if he was to survive, a heart transplant was needed. He was not responsive to the medicine offered. During the heart transplant process, a muscle biopsy was performed and determined inconclusive. Read more...

   

Connor

On November 25, 2012 our son, Connor, took his first steps. He was 2.5 years old. There were times when we didn´t think that would ever happen. Thankfully, we were wrong. Rewind to June 2, 2010.  My wife, Stacey, was entering her seventeenth hour of induced labor, and not progressing. It was decided that a C-section was the best course of action, and at 4:23am, Connor Grant was born into this world. The doctors immediately realized something was wrong when Connor decided he wasn´t ready to begin breathing on his own. Read more...

   

Derek

I personally have this disease. Living with Barth syndrome has its hard points but you have to work through it and be strong. Life is never smooth sailing. One good thing about having Barth syndrome is not having to do gym; not that I’m lazy, but no one wants to do the mile long run and sweat like crazy! One difficult thing is not being able to run around and keep up with friends. Read more...

   


Devin

When Devin James was born on July 22, 2004, he had significant difficulty breathing. He was rushed off to the NICU, where an X-ray revealed a severely enlarged heart (dilated cardiomyopathy). He was intubated and airlifted to University of Michigan's C.S. Mott Children's Hospital within six hours of his birth. The doctors in the Pediatric Cardio-Thoracic Unit (PCTU) initially told us their goal was to transition him to oral meds and send him home. But when an echocardiogram on day three revealed Devin's heart function had worsened, it became clear that a heart transplant would be Devin's only option. Unfortunately, the cause of Devin's cardiomyopathy was unknown, and there were many tests ahead before transplant could even be considered. Read more...

   

Henry

Henry Michael was born on June 30, 2008, just in time to watch his first Chicago Cubs game. Unfortunately, Henry missed the game. His sugar levels were low, warranting a night in the care unit where his nurses could keep a closer eye on him. Fortunately, the stay in the care unit led to an early diagnosis of dilated cardiomyopathy. Read more...

   
 


Jacob

Jacob Anthony was born August 22, 2000 after a normal pregnancy. According to his mother, Amy, as an infant he had a normal appetite. He was behind on some things but nothing that would indicate that she or his physicians should be alarmed of. “You just trust that the doctors would tell you if something was off, you know?” said Amy. Jacob sat up later than other children his age and suffered from recurring ear infections. He had a hard time fighting them off and no one could explain why. Pulling up was more difficult for him due to overall weakness. Jacob started crawling around 8 months of age and began to walk at 14 months. But nothing seemed particularly abnormal until a week after his first birthday. On August 27, 2001, Jacob suffered his first seizure. This was said to be a febrile seizure caused by virus. Jacob went on to have 5 seizures altogether. Read more...

   
 

Jennefer

Jennefer shares her perspective of attending BSF's 2016 Conference. Watch video...

   

John

In 1998, Anna, Shelley and I “met” and started communicating via the internet. We each had a son with Barth syndrome. I remember that we emailed daily—we were so thrilled to find another mother going through many of the same ups and downs of living with a child affected by Barth syndrome. We knew there were other families who were affected by Barth syndrome and we felt a sense of urgency to find them. Read more...

   

Jules

Getting in touch with the Foundation, via the Trust in Great Britain, meant the difference between ignorance and knowledge, between despair and hope, between helplessness and confidence, between a feeling of deep isolation and the conscience of belonging to a helpful, supportive community of doctors, researchers, parents, and relatives who work together for the well being of our boys and give us all the tools to face and maybe one day to overcome the disease. Read more...

   

Lattigo

Lattigo is my nephew, a beautiful blonde baby with the most gentle touch. He loved Elmo, Shrek, Pickles, and his dog Boo. My sister, Carol (Lattigo’s mom), knew from the beginning that Lattigo had struggles but no one would listen, brushing her off as an anxious mom. But she is the eldest of seven and has two older daughters of her own. Carol was not new to motherhood and she had that natural mother’s instinct. Read more...

 May 1, 2000 — January 25, 2002 

   
 

Leonie

Hear the difference the Barth Syndrome Foundation community has made in this mother's life and the hope she believes parents receive and can share from being a part of our community. Watch video...

   
 

Liz

Liz shares her perspective about being the sister of two boys who died early in life from Barth syndrome and raising a son, now a grown man who has become an active member of the BSF community over the years. Watch video...

   
 

Lynn

In this video, a mother of a young man who has Barth syndrome shares her thoughts about the difference Barth Syndrome Foundation (BSF) has made in raising her son. She speaks about the importance of joining BSF to unite in making a difference for those who have Barth syndrome. Watch video...

In this video, a mother and daughter share their thoughts about attending the Barth Syndrome Foundation Biennial International Conferences. Watch video... 

A grandmother shares an account of her personal journey of being a mother of a child who died from Barth syndrome and the hope she has for her grandson who is living with Barth syndrome. Watch video...

   

Michael

I am a mortal human being. I have no special powers to live forever. From the moment we take our first breath cells begin to die. I have a rare disorder called Barth syndrome. I refuse to let the term life-threatening define me. Read more...   Read the Bowen Family story   See Michael's presentation at BSF's 2008 Conference.

December 7, 1986 — December 9, 2009

   


Michael

My oldest son, Michael Anthony Telles Jr., was born on November 25, 2001 after a full-term, normal pregnancy. He appeared to be normal and healthy. We went home from the hospital two days later but had to return the same night to have him admitted for dehydration. He was nursed back to health and a week later we went home. Read more...

November 25, 2001 — April 20, 2009

Michelle, Michael's mom, shares her perspective of attending BSF's 2016 Conference. Watch video...

   


 

Michaela

Michaela shares her story behind establishing the Barth Syndrome Trust to expand the mission of BSF. Watch video...

Michaela shares her the story of her journey to obtain a diagnosis for her son and the importance of becoming an advocate when raising a chronically ill child. Michaela is the founder and chair of the Barth Syndrome Trust in the United Kingdom. Watch video...

   

Milosh

Very few families are able to say an organ donor saved their child’s life and yet my family is in such a position. Before I talk about my son’s heart transplant I will start at the beginning of our journey. Milosh was born with a rare, genetic disorder called Barth syndrome. Barth syndrome is a metabolic disorder and can cause cardiomyopathy (an enlarged heart), neutropenia, muscle weakness and delayed growth. Read more...

   


Nathaniel

My first son, Nathaniel Joseph, was born September 9, 2002. He appeared very healthy and we couldn't wait to get him home. At Nate's one-week doctor visit, we learned he had gained one pound in just a week on breast milk alone. Other than a little jaundice, he was given a clean bill of health. On September 22, 2002, we had a normal day with our new baby boy and when we went to bed around 10:30 pm, everything seemed fine. Around 1:20 am on September 23, I was awakened by Nate's cry, so I got up and gave him a bottle, but he appeared to fall asleep in the middle of his feeding. I tried waking him, but got no response, so I woke his father and called 911. As the EMTs arrived, Nate stopped breathing. Read more...

September 9, 2002 — September 23, 2002

   

Paola


Paola shares her story behind establishing Barth Italy to expand the mission of BSF. Watch video...

 

   

Raphael

Raphaël is a cute 22-month old boy. Although he looks like a one-year old, he acts and understands as a boy of his age, which can be confusing sometimes. He loves playing with his brothers, and is a very loving boy. His heart function is in the lower normal range, and looks, as many Barth syndrome (BTHS) boys, perfectly healthy. His big cheeks and his wide eyes make people stop in the street to tell us how cute our boy is….they cannot imagine how precious he is to us…Raphaël was born on December 9, 2008. Read more...

Florence, Raphaël's mom, shares her story behind establishing Barth France to expand the mission of BSF. Watch video...

   
 

Steve

Steve, former BSF board member, father of a boy who has been diagnosed with Barth syndrome and a daughter who might be a potential carrier, shares his thoughts about the importance of supporting young girls who might be a carrier of Barth syndrome. He speaks about the importance of the Barth Syndrome Foundation (BSF) conference and insights about why families should contact BSF when they obtain a diagnosis of Barth syndrome to improve outcomes for all. Watch video...

   

Peter

The Barth Syndrome Foundation gave my son a future. When he was diagnosed in 1989, we didn't expect him to reach his next birthday. More than 20 kids in our family passed away before their 3rd birthday, and my son was two years old when he was diagnosed. Read more...

   

Will

From the day he was born in 1986, Will was a bright, engaging, and alert child. But when he reached the age at which other babies began to roll over by themselves, he did not. Then, as his peers progressed to sitting up, he also didn't reach that milestone. His parents, Steve and Kate of Westchester County, NY, took him to physicians up and down the East Coast to find out what was wrong, but none could identify the exact problem. Read more...

January 23, 1986 — October 25, 2014

The Barth Syndrome Foundation (through one Barth family -- Steve, Kate and Will McCurdy) was profiled in the on-line version of PARADE Magazine on Saturday, February 14, 2009 and featured on the Today Show on Monday, February 16, 2009, to raise awareness about Barth syndrome and BSF.

PARADE Magazine ~ Fighting a Rare Illness
By Meg Massey
February 14, 2009

Today Show Episode: Turning Anguish into Action
February 16, 2009

   


William

We were told that William was on the verge of heart failure. He was immediately started on meds, and all kinds of scary terms and procedures were thrown out to us. I truly felt broken at that point. A few days after this appointment, William’s cardiologist called us and said that after giving much thought to William’s situation, he recommended that we see a geneticist. Read more...

Julie, William's mom, shares the journey of finding a diagnosis for her son and her perspective of raising a child who has been diagnosed with Barth syndrome. Watch video...

In this video, Julie shares her thoughts about the Barth Syndrome Foundation International Conference. Watch video...

 

Last Updated: 2017-04-10

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