Saving lives through education, advances in treatment and finding a cure for Barth syndrome
Sarah and Dave’s story
Our story began on the day Ashley was born. His cry was very quiet and we thought it was great not to have a screaming baby. I was concerned about his feeding. During the first few weeks he would not feed for more than 2-3 minutes. Ashley smiled at 4 weeks and seemed to be a contented baby but often had a troubled look. At 6 weeks we tried formula feeds. This only increased our fears as we could now see how little Ashley was taking, only 30 to 60mls and would not feed again for 3-4 hours. At the clinic I was told not to worry. I burst into tears and we were then seen by a doctor.
Over the next few weeks we saw numerous doctors, dieticians and consultants. Ashley was being treated for reflux. I couldn't believe it. He had never been sick, he had no signs of discomfort, he just wouldn't feed!
At 3 months, he was admitted to Bristol Children’s Hospital and began nasogastric feeding. After a week of investigations we were told he had dilated cardiomyopathy. Bells rang, as my nephew, Alex, had had a heart transplant for the same condition, 6 years previously. We were in shock.
Ashley never got breathless nor went blue.
It wasn’t long before we had a visit from Dr Colin Steward. He told us of a rare genetic condition that he thought Ashley could have, Barth syndrome. As he talked, Dave and I looked at each other in horror. We were still trying to accept that Ashley had a serious heart condition, and now we were being told he could suffer with more!! As Dr Steward went on, things got worse. He was also describing our second son Kai, then 2½ years old. Looking back, Kai had always been a poorly baby. We were always told that it was viral and had to take its course. Sitting, walking, talking etc, were delayed but we just assumed he was “a lazy baby”. Dr Steward decided to test Kai as well. By the time we received the results, Kai was in hospital with a very high temperature. Blood tests showed that he had an infection, and was neutropenic. It was no surprise to learn that both Kai and Ashley had Barth syndrome. Our eldest son Corey also had tests done, which thankfully were negative.
We were put in contact with Michaela Damin. I’ll never forget our first conversation. I had an instant feeling of support. She told us about the Barth Syndrome Foundation. We were introduced to the Listserv (email) which gives us access to other families with Barth syndrome, doctors and other experts. Now we couldn’t imagine our lives without it. Through it we have had so much knowledge and support from so many people, and we’d like to think that we have helped others too. We now feel we have an extended family, from all over the world.
It took Ashley quite a while to get on the move, but he has certainly made up for lost time. He has never taken to eating or drinking and receives all his nutrition via his G-Tube. Ashley has also suffered episodes of hypoglycaemia. Ashley likes his TV and DVDs. Kai loves helping his uncle on his pig farm every Saturday and would be there every day if he could. Both boys attend mainstream school and really enjoy it. They have electric scooters and Kai goes to school on his—much more cool than his wheelchair!
Corey our eldest loves to play football, he is in a team and trains every week. The boys have a little sister, Josie, who is 5 years old and very lively and interested in everything! We’ve all adapted to Kai and Ashley’s needs. Thankfully we seem to have more ups than downs, and so our house is a typical home most of the time, with 3 boisterous boys and one very loud little girl.