Saving lives through education, advances in treatment and finding a cure for Barth syndrome
Allanna and Tommy’s Story - Learning to manage Barth syndrome
When Alfie was a baby, he 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. After three days at home, Alfie was re-admitted into hospital.
No one quite knew what was going on with Alfie. He had a brain scan, echo, metabolic testing and a liver scan but doctors came to the conclusion that Alfie's heart was "a little big" but they were not worried and thought it was just down to his "bad start". We were sent home after four days. During the next few weeks, I switched him to formula milk just in case this was the problem but he was still a very quiet baby and not interested in feeding.
At a clinic appointment, he had another echo and we were told that he had dilated cardiomyopathy and he was re-admitted into hospital and started on captopril and propranolol. We were sent home after 5 days and were very frightened for our son. Alfie started to feed better and seemed to gain weight steadily for a while, but was never really interested when it came to starting solid foods; he seemed to prefer his milk over everything else that was offered to him. We were told not to worry about this as he was growing and seemed to be thriving on even the little amounts that he would take. Alfie reached his milestones a little late and we were told that this was probably because he had a brother 18 months older who was fetching things for him.
Alfie had numerous hospital admissions from around November 2002 with different "viral" bugs and about 5 episodes of ear infections. He twice had febrile convulsions with these infections. This was a horrible time for Alfie as he just seemed to get over one thing and something else would crop up.
Barth syndrome was suggested around the start of 2003, and Alfie was diagnosed with it. We were really scared and I remember typing it into the computer and being absolutely terrified by what I saw!
We contacted the Barth Syndrome Trust and felt relieved that there was some positive news, support and advice on hand. We were added to the Barth Syndrome Foundation listserv (an email forum) and found this service invaluable: if we had any question or concern about Alfie, someone had some experience or advice to share or could point us in the right direction for the answers. We also found that the archives in the listserv were a great source of information. You won't find a more supportive bunch of people to share stories and knowledge about this rare genetic disorder than these. It feels like an extended family around the world who know what your son is going through and are on hand with support, understanding and genuine compassion.
In 2004, Alfie was put on GCSF on the advice of Dr Steward in Bristol. He has thrived on GCSF— no infections, no hospital admissions and he is generally a livelier boy. He still does not have a great appetite and his diet consists of mainly milk, pasta, rice, noodles, cereal and other soft foods. He gets tired during the day but is learning to manage his Barth syndrome a little each day. He has just started secondary school.
My son has so much to battle against, but he is a wonderful boy and I am very proud and grateful every day to have such an amazing, beautiful, gutsy little guy in my life!
Allanna’s experience with her son and her warm and friendly personality are a great help to our families. Allanna and Tommy and their extended family and friends have also worked hard at fundraising for BST over the years.