What is Barth syndrome?
Barth syndrome is a rare but serious, x-linked genetic disorder of lipid metabolism primarily affecting males around the world. What are the signs and symptoms of Barth syndrome? The cardinal characteristics of this multi-system disorder consist of the following in varying degrees:
Cardiomyopathy (dilated or hypertrophic) - A weak heart muscle usually associated with enlargement of the heart Neutropenia (chronic, cyclic, or intermittent) - A reduction in “neutrophils”, a type of white blood cell that is most important for fighting bacterial infections.
Muscle hypoplasia and weakness/Exercise intolerance - All muscles, including the heart, have a cellular deficiency which limits their ability to produce energy. Muscle weakness and increased exertional fatigue are characteristic findings in Barth syndrome.
Growth Delay (often mistaken to be failure to thrive)-During childhood most affected individuals are below-average in height and weight. 3 Methylglutaconic aciduria - An increase in an organic acid that can be measured in urine that result in abnormal mitochondria function (the “powerhouses” or primary energy producers in cells).
Cardiolipin deficiency - A failure of Barth syndrome mitochondria to make adequate amounts of tetralinoleoyl-cardiolipin, an essential lipid (fat-like molecule) for normal mitochondrial structure and energy.
What gene is affected?
Barth syndrome is caused by mutations in the tafazzin gene (TAZ, also called G4.5) on the X chromosome. Because males have only one X chromosome, they will have signs of Barth syndrome if that X chromosome carries a mutated tafazzin gene.
Who does Barth syndrome affect?
Barth syndrome primarily affects males.
Can females get Barth syndrome?
Females are primarily only carriers of the mutated gene that causes Barth syndrome. Females who carry an X chromosome with a tafazzin mutation are unaffected because they have a second X-chromosomes with a normal tafazzin gene that is dominant to the recessive tafazzin gene. Although it is theoretically possible for a female who carries a mutation in the Barth gene to have clinical signs of the disorder, there has been no proven affected female with a normal 46, XX female karyotype to date.
How does someone get Barth syndrome?
Barth syndrome is an x-linked recessive genetic condition, meaning that it can be transferred from mother to son. A mother who is a carrier of Barth syndrome usually shows no signs or symptoms of the disorder herself. There is a 50% chance that a boy born to a female carrier will have Barth syndrome, while girls born to a carrier have a 50% chance of being carriers themselves. All daughters of a male with Barth syndrome will be carriers, though none of his sons will be affected. There are several known non-carrier mothers, and for this reason we believe mothers should be tested.
How is Barth syndrome diagnosed?
The diagnosis of Barth syndrome should be considered for any child or adult found to have any one of its four cardinal clinical characteristics, and evaluation for the other diagnostic criteria should be undertaken by obtaining the following studies: Quantitative urine organic acid analysis, including quantification of 3-methylglutaconic acid Cardiolipin analysis of muscle, platelets or cultured cells Complete blood count and differential Echocardiogram DNA sequence analysis (genetic testing) of the tafazzin gene (TAZ, also called G4.5) which falls on the long q arm of the X chromosome; Xq28.
Please see the “Diagnosis of Barth syndrome” webpage for further information on diagnosing Barth syndrome as presented by Dr. Richard Kelly MD, Ph.D. For more details about these tests and a listing of approved labs, please refer to http://www.genetests.com.
If you'd like more information on Barth Syndrome please go to this website!
I interviewed Kristi Pena about her son Christopher and him having Barth Syndrome! It was a wonderful oppurtunity to talk to someone who has gone through this and get their perspective on Barth Syndrome!
How did you find out you were pregnant, and Christopher's birth story? Was CHD shown in utero? What were your feelings learning he had CHD and how was it told to you?
What would you tell a new family that has just learned about Barth Syndrome and their son's fight with it?
I would give them the same advice the geneticist gave me when he called me out of the blue with this diagnosis, to find the Barth syndrome foundation(www.barthsyndrome.org) for more information and support about this extremely rare disease. That has been the best advice anyone could get. They are a wonderful organization who we have come to know as family. There are actually less than 200 known cases worldwide,and the community is very closeknit and full of wonderful people. We believe BTHS to be severly underdiagnosed. They are recommending anyone with a son with this specific type of cardiomypathy, neutropenia or family history of losses of boys, they should be tested, just to be safe. I didn't officially know (though I always told the doctors there was something else off with him) he had anything other than his chd and that was all that was addressed until his diagnosis. Since then, we are aware of his neutropenia and metabolic issues as well as others and it is easier to help address things if you know.
What will you tell Christopher as he grows, and is he aware of Barth Syndrome now at such a young age? How do you cope with his limitations with him?
Do you work or stay home with Christopher? Could he ever go to daycare, and will he be able to attend public school one day? What are his limitations with going out in public? (the reason I'm asking this is because of weakened immune system and taking antibodics everyday ... does this prevent him from just being a kid?)
I haven't been back to work since the day before I went into labor with Christopher. Things went crazy after that going from possible heart transplant, to us opting against, due to the risks and we didn;t think he would survive, so he went home and was admitted into hospice for 15 months. I still haven't gotten the clear to put him into daycare. When he was released from hospice with his heart improvement, even then, they said no daycare. Now with the BTHS and all of the immunity issues, he is still not in daycare, though there are many other boys affected with BTHS who do attend. It just depends on the boy and the circumstances. Many are also homeschooled. I am not sure what will happen with Christopher. For now, he will transition his therapy from early intervention, to the county special education preschool services. The will come to the home because of his immunity. He has speech, physical and occupational therapy. I also learned that homebound services will be available if when the time comes, he is still unable to attend. The flu can be deadly for someone with BTHS and they run a great risk for infection or virus which could also be fatal. I am very friendly with lysol and take it everywhere with me and anything he comes into contact with, I try to wipe or spray. I sometimes get funny looks, but this is my son's health and safety. I am also careful about places he goes, we don't take him to the school for any reason and I keep him out of the WIC office and he doesn't wait in the waiting room for peds with the other children, many of which are there due to sickness.
His daily penecillin does help as a safety net, but the neupogen (or GCSF) injections for his cyclic neutropenia have helped him so much. He has not been sick for quite some time, and the time he got a runny nose since starting this therapy was defeated quickly.I also think it gives him some energy. Though the medicine does have its serious risks, I believe it is helping his quality of life, because he can do more. When they told us of his neutropenia, we went from being very careful to completely isolated. Now with the shots, we can attend family functions without risking him picking up an illness that would take him months to get over, or worse. We try to let him be a kid as much as possible and he is a very social child, though we are still cautious.
Do you have other children? How do they react to Christopher having Barth Syndrome, how much do they know?
I have an older son, Justin who is 13. The boys are 10 years apart, and unfortunately, I could not protect him from the knowlege of the seriousness of Christpher's health. They were separated from birth to 45 days old, along with Justin not only having to not have his new baby come home, but his parents who have always been there constantly to disappear with baby.
He had some severe separation issues in the first year, especially, not knowing if he went to school if his brother would still be there when he got home. It is a horrible feeling to not be able to protect either of your children from these things.
Overall, Justin and Christopher are inseparable, and if you spend any time around them, you will see a special bond like no other. They love each other so much and they made it easy not to question our decisions early on, these boys are gonna have as much time together as possible.
Justin pretty much knows everything even about the Barth syndrome (what isn't too complicated for his age and even for my age to understand) He knows how we have to be more careful with exposure and pushing Christopher too far if he needs rest. He is overprotective and loving and I could not ask for a better sibling for Christopher or child of mine. Both of my boys make me very proud.
How has your husband and your relationship changed or grown because of the diagnoses?
I know I am not the same person I was before as this has been lifechanging, as it has been for both my husband and oldest son. Even through it all, and though we are always under a lot of extra stress. The loss of my income hasn't helped our finances any, and this has been a source of guilt for me even though I love being home to raise Christopher instead of a daycare.
I worry that my husband does get resentful that I am not helping financially anymore.
It is also tough coping with habing a chronically ill child when a man and a woman are wired totally different. But we both cope in our own way. Mostly I like to talk about it more and he copes by talking about it less.
I know that they say that the divorce rate has been sky high for those who have been through what we have, but I will have to say, even through the intense moments, having these trials and tribulations has made our relationship stronger and we love eachother very much. We work well as a team and have made some very big and difficult decisions together.
If you have faith the size of a mustard seed, you will say to this mountain, "move from here to there," and it will move; and nothing will be impossible for you. Matthew 17:20
If you'd like to read more of Kristi and Christopher's story please visit their CaringBridge site: