UNCOMMON BOND: Siblings share rare genetic disorder
Vanessa Jennings, 11, and Jacob Jennings, 7, of Danville are two of the first-known cases of Duplication Chromosome 14q32.33, a rare genetic disease that causes various health issues for the two. (Kendra Peekemail@example.com / December 17, 2012)
Everyone has 23 pairs of chromosomes which are examined by regions, assigned numbers and letters by which to identify the areas. Vanessa and Jacob are the first known cases of Duplication Chromosome 14q32.33, meaning they each have the same duplication of that chromosome, resulting in extra genetic material.
In the United States, rare diseases are those that affect fewer that 200,000 people. Vanessa and Jacob are two of an estimated 350 million worldwide with some type of rare disease, 25 to 30 million in the United States, of which there are about 7,000 different types. All of these fall under the umbrella term, but there are differences among the diseases. Life for Vanessa and Jacob is continually full of unknowns.
“We don’t know what we face,” their father, Emby, said.
His wife and the children’s mother, Barbara, added “that makes it horribly scary.”
They have been told the children could begin having seizures, problems with their main organs and be more susceptible to contracting cancer, because those are the genes affected.
The Jenningses were told Jacob’s health issues would develop the same as Vanessa’s as he aged, but, as with his personality, he has thus far developed a different set of health concerns.
As of now, Vanessa deals with liver disease and will likely need a transplant someday, while Jacob is faced with heart defects, including an aneurysm on his heart. Both children suffer from asthma, however, Jacob’s is worse than Vanessa’s, their dad said. This prohibits both children from playing outside on humid days.
They also recently discovered that the ball joint in Vanessa’s hip had deteriorated some, causing her pain and more doctor visits, which are not unusual for the family.
“We have had as many as 30-some (doctor’s) appointments in one month,” Barbara said.
One problem they and many families face is the lack of knowledge about rare diseases. Due to the small number of people with each disease and the vast number of diseases out there, research is limited. According to the National Institutes of Health, there has much progress in the field in recent years; however, there are many that still do not have any type of treatments.
In the case of Vanessa and Jacob, Barbara explained, they “mostly treat the symptoms.”
“As something new comes up, new doctors are added,” she said.
Research and raising awareness are two of the things the Jenningses work hard to do, in hope of helping the children.
Through her searching, Barbara found a doctor in the Netherlands who wanted to meet the children and try to research their disease. However, that trip would require a great deal of funding that the Jenningses simply don’t have.
If she could find the way, “I would move there in a heartbeat,” Barbara said. However, the family is optimistic because more medical advances are being made each day. The children are making advances too, in their education. Barbara homeschools them for various reasons, including their immune systems. Both Vanessa and Jacob have weakened immune systems because of the disease. This is the first year trying homeschooling.
If either child gets sick, the parents don’t know if it is a simple virus or something to do with the disease. According to the Global Genes Project, a patient advocacy organization, 80 percent of rare diseases are caused by faulty genes.
The National Institutes of Health confirms that is often the case, but there are more problems involved, as well. In the case of gene mutations, the disorder is often passed from one generation to the next.
“I blamed myself,” Emby said, asking, “Who wants their kid to have something like this?”