By Karla Sullivan
First, it began with Noah VanHoutan, growing into a healthy toddler who loved baseball and dreamed of playing for the Chicago Cubs until his world began to collapse. Noah began to experience seizures, delays in speech and an extreme loss of motor skills.
Today, sometimes every minute is a struggle for nine year old Noah and his family. He is confined to a wheelchair, feeding tube, lost his speech and surrounded by visiting nurses rather than attend a game of his favorite team.
A family challenged enough by unfamiliar illness, Laine, Noah’s younger sibling, runs into her parent’s room one evening. Panic-stricken, she is crying that she can’t see, she can’t walk and asks if she will be just like her brother.
Today, Laine can no longer stand, let alone perform in ballet class as she had once started. Nor does she have the dexterity to color with her Mom. Laine is currently in a walker and it is a struggle to feed her as seizures take control of her fragile body. And she, too, was diagnosed with the deadly disease that has an age twelve life expectancy.
Noah and Laine VanHoutan suffer from Batten Disease, a rare genetic illness that presently affects 2 to 4 of every 100,000 births in the United States. Laine has a twin sister, Emily, who does not have the disease. Affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and unable to communicate.
Batten disease(LNCL) is also referred as neuoronal ceroid lipofuscinoses, a type of disorder and there are four main types of NCL.
· Congenital NCL which indicates babies born with very small heads and die soon after birth.
· Infantile NCL also called Santavuori-Haltia disease begins between ages 6 months and 2 years. Affected children usually die befoe the age of 5.
· Late infatile NCL(Jansky-Bielschowsky disease begins between ages 2 and 4. Death usually occurs between the ages of 8 and 12
According to the National Institute of Neurological Disorders and Stroke, Batten disease is fatal. Childhood NCL’s are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry one defective gene, each of their children faces a one in four chance of developing NCL. At the same time, each child also faces a one in two chance of inheriting just one copy of the defective gene. Individuals who have only one defective gene are known as insurers, meaning they do not develop the disease, but they can pass the gene on to their own children. Because the mutated genes that are involved in certain forms of Batten disease are known, insurer detection is possible in some instances
No specific treatment is known to stop the disease. However, in September, researchers at the National Institutes of Health have identified a potential new drug that could help in the treatment of a form of Batten disease. The researchers tested the drug in mice with the disease and found that it slowed the loss of coordination seen in the disorder, and extended the animals’ life span.
“The NIH researchers have found a promising lead for treating a devastating disease that has defied all attempts to treat it,” said Constantine A. Stratakis, M.D., director of the Division of Intramural Research at the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.
For more information about Batten’s and how you may volunteer or donate, you can click on the Batten Disease Support and Research Association for programs, services, and latest news concerning research and development. You can download the quarterly newsletter concerning general family news and fundraising information.
On February 28, 2014, Rare Disease Day is scheduled and the Batten community will be on Capitol Hill, the state legislatures and in schools to build the awareness of Battens; advocating for better research, funding and support to the families.
Located in the southwest suburbs of Chicago, the VanHoutan family has established a website called Noah’s Hope before Laine had been diagnosed. The website does more than provide information about the disease and children’s progress. It acknowledges the determined, never-ending efforts the family has taken to support initiatives in finding a cure; fighting for their own as well as other children stricken with Batten.
Tracy VanHoutan, father of Noah and Laine is an active board member of BDSRA ““I have focused on fundraising, advocacy, raising the profile of Batten at the federal level, scientific research and developing relationships with regulatory authorities and drug companies. With Noah’s Hope, we have committed over $400,000 to the fight against Batten disease in partnership with BDSRA. I have testified before the FDA, NIH, and the Rare Disease Congressional Caucus. I expect these efforts to further BDSRA goals related to funding, support programs and streamlining the path to therapies. We have funded projects including: two NCL mouse colonies, biomarkers, worldwide patient database/registry, drug screen assay for NCL therapeutics, a drug re purposing study with possible implications for multiple forms of NCL, a BDSRA IT overhaul and preclinical lab work for enzyme therapy, which resulted in the current trial for LINCL via BioMarin.”
For those whose New Years resolution involves a new direction in giving their services and financial assistance to others, supporting the investigation for a Batten cure is certainly worth the journey.
For young parents starting a family, make sure that your health and life insurance is appropriate to meet your needs. If you are a parent who has already purchased a life insurance with a new baby, you may want to add a child rider to your plan prior to any diagnosis of illness. If your child is diagnosed with a terminal illness during their early years after the rider has been accepted,a death benefit will be paid. You can also purchase a Gerber grow up plan for your children but make sure you talk to an insurance specialist for the best match.
