Born with Barth Syndrome and Beating the Odds

Thanks to the Barth Syndrome Foundation and author Donna Strain for this article.

I never got to meet my brother.

Martin was born two years before me and he was tiny, weighing barely over four pounds. He had a big shock of blonde hair and my mother had laboured with him for a long time. My parents never got to bring him home. He spent the 10 weeks of his little life fighting in the hospital as they tried to figure out what was wrong. They knew he had a problem with his heart but were unable to save him. Mum never wanted more children after that. She was convinced that there was something going on within the family. My Nan had lost three boys, one after the other, and this left her with a guilt she was never able to overcome. My Aunty also had lost a boy at the age of six months.

He failed to grow properly and he also had a cardiomyopathy. My parents consulted a geneticist who advised them to consider adoption. At the time the geneticist informed them that whatever the problem was, it should have skipped a generation after my grandparents. However, it obviously hadn’t. We now know that this information was incorrect but at the time it gave my parents hope that if they managed to have children they would not be affected. My parents took a gamble and had me, followed by my sister, two years later.

I had grown up knowing my family history, however it really didn’t hit home until I fell pregnant with Cameron. I had spoken to my obstetrician about my family history and when Cameron was born, after a relatively normal pregnancy, he was referred to a cardiologist. At birth Cameron’s heart function was on the low side of normal and we made another appointment for a check-up in a couple of months. We never made it to that next appointment. At nine-weeks-old Cameron was struggling to feed and sounded snuffly. I knew something was very wrong and this was confirmed when we presented him to the family doctor. He promptly sent us off to the Emergency Room and that was where our world was turned upside down. Cameron was in heart failure and nobody could tell us much more than that. We were very fortunate as our cardiologist had recently read a paper on Barth Syndrome. As Cameron had presented with cardiomyopathy, low muscle tone, and I had a family history of losing boys to cardiomyopathy at a young age, he felt that Cameron very likely had Barth syndrome. Blood was taken and sent for testing. It would be 18 months before we received confirmation of a diagnosis.

In the meantime, we consulted a geneticist who informed us that it was unlikely that Cameron would live out of infancy given our family history. As you can imagine we were devastated.

When Barth syndrome was mentioned to us I used the internet to try and gather some information. I was terrified by what I discovered. I remember reading, among other things, that Barth syndrome was associated with high infant mortality. I know it was a little while before I could face doing any more research. I then reached out to the Barth Syndrome Foundation and with that we found instant friends, family, support and acceptance. When your child is very ill friends and family often pull away not knowing what to say or how to act. The experience can be very isolating as it is difficult for others to understand what you are going through. We attended our first Barth syndrome conference in 2006. I think we experienced every emotion – we laughed and we cried, but we learnt so much. The information we gathered at the conference allowed us to come home and advocate for the best care for Cameron.

We have attended five Barth syndrome conferences altogether. Each conference is used to collect information from the boys and their families, to conduct studies, and to provide education in all different aspects of the boys health needs. Alongside the family conference a science and medical conference is held and families are encouraged to attend these sessions and hear about the latest research as well as meeting the doctors and scientists who are working so hard for us. This is an experience I cannot put in to words. It is the coming together of one big family. There is often sadness as we suffer losses along the way but overwhelmingly there is love and hope. I am astounded by the advances the Barth Syndrome Foundation has made in such a very short time. At our first conference I remember listening with awe as the scientists had managed to produce a Zebra Fish with Barth syndrome. Ten short years later and we are looking at our first clinical trials. I cannot express the gratitude we have to those who have worked so very hard to get us to this point.

My gorgeous boy made it out of infancy. He is now almost 18 years old and he earns my admiration every day. He struggles with pain and fatigue but he always has a smile. He will push himself to go to school even when he is exhausted. Cameron needs a motorised scooter to navigate school. It enables him to save energy to get through the day and to concentrate and therefore learn at school. He would struggle to navigate the school carrying a heavy bag and would otherwise be too exhausted to absorb information. He has had some struggles with friendships at school as he is obviously different from other teenagers and finds it difficult to keep up with the activities they like to do. Up until recently he was much smaller than all of his friends as Barth syndrome causes short stature early in life and puberty does not start until much later than other children. He also has recently developed neutropenia and has had to learn to inject himself with a medication which helps to stimulate his neutrophils. Unlike other teenagers, Cameron has lost many friends with whom he was very close. Each boy lost to Barth syndrome is immensely sad as we are all so very close and it is also a reminder to Cameron that the disorder he has is potentially fatal. Anxiety, therefore, is something that understandably plagues many of the boys.

Like many of the young men Cameron loves to cook and he is very good at it. He makes anything from sushi to his own pasta. Asian foods are his favourite. He is currently working hard to obtain the grades he needs to get into university as he would like to become a high school home economics teacher. He is learning to drive and already has his first car. He is a practical joker and is always trying to make those around him happy. He has always had amazing empathy and compassion for others. When he was around 10 years old he shaved his head and managed to raise $300 for the Leukaemia Foundation and would regularly donate his pocket money to different charities. He is an amazing young man who loves life and we are so very proud of him.