Some positive press for a couple UGA players

Ok, so you hear so many stories about college kids doing dumb things, making mistakes, etc,  today I want to blog about a couple guys on our team that made a big difference in the life of a young man I know. This young man (William) is my son's age, 7, and is just a terrific little guy. He is quite the sports fan, he knows stats of players, he knows how the game is played-especially baseball, but really all sports. He has a quick wit about him, his parents are wonderful friends of mine. This little guy however was born with a rare genetic disorder called Barth Syndrome. For those that read this blog, chances are you have never heard of Barth Syndrome so let me provide you with a little bit of information. The below is information from the Barth Foundation website.


Barth syndrome (BTHS; OMIM #302060) is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an inborn error of lipid metabolism.


inheritance
Barth syndrome (BTHS) is an X-linked genetic condition, usually transmitted from mother to son (although there is a relatively high incidence of new mutations in BTHS and one confirmed case report of a female BTHS patient). A mother who is a carrier of a Barth syndrome mutation (the gene is named tafazzin — also called TAZ or G4.5) shows no signs or symptoms of this disorder herself, probably due to skewed X-chromosome inactivation.
There is a 50% chance that a boy born to a female carrier will have BTHS, whereas girls born to a carrier have a 50% risk of being carriers themselves. All daughters of a male with BTHS will be carriers, however no sons will be affected. Because there are proven non-carrier mothers, all mothers of BTHS children should be tested in order to define the genetic risk in each family.
Any male child related through the female line to a BTHS individual should be tested for the disorder, as there can be great variation in phenotype even among affected siblings. 

o 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.

Why is an early diagnosis critical? o Early and accurate diagnosis is key to survival for affected individuals. Historically, boys died of heart failure or infection by three years of age, but today, with improved diagnosis, treatment, and management, the survival rate and future of these boys is much brighter.

What are the major clinical problems?
Congestive heart failure o Risk of serious arrhythmia, including sudden death o Serious bacterial infections o Gross motor and/or fine motor delay o Growth delay o Exercise intolerance, lack of stamina

Incidence and Prevalence 
 To date, there are no good studies of the population or birth incidence of Barth syndrome; however probably fewer than 10 new Barth infants are identified each year in the United States, which suggests an incidence of only 1 in every 300,000 – 400,000 births. Currently there are fewer than 500 individuals within our registry from around the world.

Ethnic Incidence 

Barth syndrome occurs in many different ethnic groups and does not appear to be more common or have originated in any one group.

Is there a cure for Barth syndrome?

There is no specific cure for Barth syndrome at this time, but the BSF is funding research for interested scientists and physicians in hopes to further their understanding of the metabolic and biochemical abnormalities seen in this disease.  

How do you treat Barth syndrome?

There are no specific treatments for Barth syndrome. Not all patients exhibit all of the symptoms at any one time, therefore heart symptoms, infections, and nutrition problems are treated as they arise. Careful attention and monitoring for symptoms is advised.

So now that you have a better understanding of what Barth is, just know that William is doing really well and his parents have been very proactive in finding his problem and getting him medical attention as needed. There is no cure YET but hopefully there will be one soon. But, for now, the family realizes that every moment with William is special. As it turns out, across the street from this family lives the aunt of Ben Jones. William's Mom attended UGA and so there was an instant connection there. Through the years, Ben has visited his aunt and this family met him on one of his previous visits. Ben suggested they come up for a visit when they had the chance and so this past Sunday, they paid him a visit. Below are a couple pictures of William with Ben and also Aaron Murray. William got to go to the practice fields-both outdoor, indoor, also the Butts-Mehre building. These two guys helped make a very special memory for a very special little boy. Unfortunately, in today's negative news society, stories like this rarely get reported so I thought today, as I got permission from William's parents, why not let my bloggers know that we have some fine young men representing our university.

 Tomorrow and Friday I will be previewing the Ole Miss game. Every game moving forward is a must win for our SEC chances and probably for Mark Richt's chances to remain our coach. I have to admit, I am a bit worried about this game just because Ole Miss is likely to come out fighting to save their coach as well. Hopefully our guys will be up to challenge.