Question:

I need an expert on Ataxia Telangiectasia in the State of Ohio. Can anyone help with this rare genetic disease?

Answer:

As you may know, ataxia-telangiectasia, or “A-T,” is a progressive, degenerative disease that affects many systems of the body. Children appear normal at birth, and the first signs of the disease usually appear during the second year of life. These first signs are usually a “wobbly” lack of balance and slurred speech caused by “ataxia”, which means a lack of muscle control. These children also develop what is known as telangiectasias – tiny red “spider” veins that appear in the corners of the eyes or on the surface of the ears and cheeks exposed to sunlight. Children with A-T can also have problems with their immune system, have a predisposition to cancers and problems such as difficulty swallowing, etc.

A-T is inherited as an autosomal recessive disorder. An affected child has received two abnormal genes from his or her parents that code for A-T. The parents (who are healthy) each carry one mutated or changed gene that can cause the disease. They would have a 25% chance with each pregnancy of passing the gene on and having an affected child.

Currently A-T is incurable. Children with A-T usually die from respiratory failure or cancer by their teens or early twenties. A few A-T patients live into their forties, but they are extremely rare. At this time, treatments are directed only toward partially alleviating some symptoms as they appear. Physical, occupational and speech therapy are used to help maintain flexibility.

In Ohio, I would recommend contacting either the Center for Human Genetics at University Hospitals of Cleveland/Case Western Reserve University (216) 844-3936 or Genetics at Children`s Hospital Medical Center at the NetWellness.org College of Medicine. Dr. Arthur Zinn at the Center for Human Genetics in Cleveland and Dr. Gregory Grabowski at Children`s in Cincinnati both specialize in disorders of metabolism and neurological genetic disorders.

Also, there is a center in Baltimore Maryland that specializes in A-T. The A-T Clinical Center at Johns Hopkins and the Kennedy-Kreiger Institute can be reached at 1-800-610-5691.

Finally, there are 2 websites – see below – that may be helpful.

For more information:

National Ataxia Foundation
A-T Children’s Project

Response by:

Anne Matthews, R.N., Ph.D. Director, Genetic Counseling and Family Studies Center for Human Genetics School of Medicine Case Western Reserve University