AUSTIN (KXAN) - A family looking for some answers now sheds some light on a difficult situation as their nearly 2-year-old son Braxton now has a diagnosis and some direction.
Vanessa Garcia, Joseph Vaughan and Braxton were on KXAN News at Noon in February demonstrating how they feed Braxton through a tube -- not knowing then what was wrong with him.
However, a new diagnosis has given them some direction and hope in caring for Braxton -- perhaps also providing some insight for a medical condition that can affect a lot of families.
"After 21 months of searching, hoping, and waiting for a diagnosis, we finally have an answer! [And a whole lot of questions.] Today has been quite the rollercoaster of emotions for us all, and I'm still learning and processing all of the information," wrote Vanessa on a blog dedicated to Braxton's journey.
The official diagnosis is Rubinstein-Taybi Syndrome.
Braxton's family talked about how life changes after getting a diagnosis when you've been searching for some time. You can hear that on Hari Khalsa's Blog Talk Radio Show.
Braxton turns 2 years old on Monday, and the family is doing well -- thanks to their outside support and outlook on the situation.
While Braxton's loving parents have gotten used to feeding him through his tube, there is now hope he'll soon do without it. Still, they make it look easy in the video they created to help out others.
In addition, their blog shares their touching story and takes you through why Braxton needed it in the first place.
In-Depth: About U.R. Our Hope
They have been very instrumental in helping Vanessa and Joseph throughout their diagnostic journey in finding health care resources and also providing parental support.
The organization is hosting a fundraiser from 5 p.m. to 8p.m. Thursday at the Chick-fil-A on South MoPac and U.S. Highway 290.
In-Depth: More about Rubinstein-Taybi Syndrome
It is a genetic disease involving:
- broad thumbs and toes
- short stature
- distinctive facial features
- varying degrees of intellectual disability
It is a rare condition, and most people with RTS have a defect in a gene that leads to abnormal protein substances called CREBBP and EP300.
Some patients, typically with more severe problems, are missing the gene entirely.
Most cases are sporadic -- meaning not passed down through families -- and likely due to a new genetic defect that happens while the baby grows in the womb, which was not passed on by either parent.
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