Batten Disease
Batten Disease is a relatively rare genetic neurodegenerative disease that tends to strike boys and girls of Northern European ancestry. It is always fatal. Juvenile Batten shows few, if any, symptoms in the first five years; so the child begins life normally. Visual impairment, an early manifestation, begins at age six or seven. A trip to the eye doctor, not uncommon for children that age, often initiates the process that will result in an unexpected and truly horrifying diagnosis.
Clinically, juvenile batten disease is characterized by the mutation of a gene called CLN3. The mutation reduces or prevents the production of enzymes that are necessary for normal neurotransmission. In real life, the defect results in a progressive chemical chain reaction that produces blindness, epileptic seizures and the loss of cognitive and motor skills. These symptoms occur episodically at first, then with increasing frequency. Eventually the child will lose the ability to walk, to communicate and, finally, to carry on any life functions. The process can take 20 years.
Our Story
When Chris and Danielle brought their six year old son Eric to the eye doctor in 2003, they could never have expected the nightmare that would follow. Several diagnostic failures eventually led to a test and confirmation in September, 2004, that Eric had Batten Disease. There was no known incident in Chris’s or Danielle’s family histories that would forewarn them that they each carried a rare recessive gene. And in Nature’s lottery, even though they carried the gene, Eric still had only a one-in-four chance of inheriting the disease.
Eric’s sister McKenna was born before Eric’s diagnosis. Despite the three-to-one odds in her favor, she too was diagnosed with Batten in October 2007.
Eric and McKenna are our grandchildren. Chris is our son. Both Chris and Danielle are college graduates. Chris has a PhD in medicinal chemistry and works for a pharmaceutical research company. They have two younger daughters, Sophie (5) and Tori (1) who do not have Batten Disease. They will provide the best care possible for their children, but their family can never be normal.
Hope for Batten Cure
Because it is rare in America, Batten Disease does not attract large government grants or charitable funding. Our focus is on a cure, even if it may come too late for our own family.
Nancy is active in the running community and for the third year has organized a 5K Run, 2 Mile Walk and 1K Fun Run scheduled for May 14, 2011. The race will be held at Bachman Lake, 3500 West NW Hwy., Dallas, 75220. All net proceeds of the event will be contributed to BDSRA and designated for research.
If you do not attend the event but wish to contribute, you may write a check to BDRSA and send it to Nancy Lowden, 12116 Cross Creek Dr., Dallas, TX 75243. BDRSA is a non-profit organization qualified under 501 (c) (3) of the Tax Code. It supports over 1,200 families worldwide who have children with Batten Disease.
Don’t hesitate to call Nancy at 972-407-9705 with any questions. Many thanks for your consideration.
Scott Lowden
