Monday, May 28, 2012

Ataxia Telangiectasia (A-T)

Ataxia Telangiectasia (A-T)  A-T is a progressive, degenerative disease that is rare, (approximately 500 children in the US).  It is a recessive genetic disease that combines the very worst symptoms of Muscular Dystrophy, Cerebral Palsy, Cystic Fibrosis, an Immune System Disorder and a 1,000% greater chance of getting cancer than the "average" child.  Children with A-T are usually wheelchair dependent by the age of 10 and rarely survive their teens.

Ataxia (wobbly, lack of balance), choreoathetosis, tremors, jerks, slurred speech, swallowing impairments, and apraxia, just to name a few.

Examination of the chromosomes.  DNA

There are currently no treatments or therapies for A-T.  It is fatal.


Lana's Story
Our Lana is a fighter...she's had to be.  She was born into a world of domestic violence, mental illness and drug and alcohol abuse.  When Lana was 15 months old, we were successful in getting custody of her, and her little brother, Alexander.   (We are her maternal grandparents.)

We knew something was wrong due to the way she walked.  At first, the doctors thought she had Cerebral Palsy...until her symptoms worsened.  It was then thought she had Tuberous Sclerosis.  When testing ruled that out, she was tested for Ataxia Telangiectasia.  Testing proved she had this devastating disease.

She began using a wheelchair and a Dynavox communication device at the age of two.  As time goes on, Lana's symptoms progress.

An MRI of her brain last April showed that the A-T has destroyed her cerebellum...the brain matter has been replaced by spinal fluid.  Lana's immune system failed in November of last year, and now, each week we give her subcutaneous immunoglobin infusions at home.

At age 8, Lana's A-T is progressing much quicker than most, as the drug and alcohol she was subjected to in utero have exacerbated the disease.  Lana's mother, our daughter passed away of a drug overdose on June 27, 2009 at the age of 27.

Despite everything, Lana is a beautiful, happy little girl who is in the 2nd grade.  She loves school and Brownie Girl Scouts and will soon begin cheerleading with a special needs squad.

Lana has been recognized by the Texas Legislature for her role in representing the disabled children of Texas in the fight to preserve Medicaid.

This past Saturday night, Lana was crowned Little Miss Wheelchair Texas 2012 and it is our hope that  she can continue to be an advocate for disabled children.  We are so very proud of our girl!

Contributed by MOM Teri Little - to read more about Lana check out her FB Page

1 comment:

  1. Wow. What a wonderfully worded story about a remarkable girl. Thank you for sharing your fay of sunshine with us.