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For the Jennings family, the unknown is a real part of their lives. Vanessa, 11, and Jacob, 7, were diagnosed with a rare disease in 2008. At the time, Vanessa was 7 and Jacob just 2. Doctors had been testing Vanessa since she was about 2 years old in an effort to discover what was wrong.
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?”
In some cases, parents are unknown carriers for the disorders. Once a disorder manifests in a child, it becomes more likely that any other siblings and any future generations could have the same disease, which was something the Jenningses didn’t know. When Jacob was born, they were still trying to confirm what was wrong with Vanessa.
At the time, getting an important test done was not covered by insurance. Unfortunately, it was a necessary test to point them in the right direction and one that was actually ordered by their primary doctor. Since then, Barbara has fought for that to be covered by all insurance and won the battle in Kentucky.
In spite of their problems, Vanessa and Jacob are typical children — they love playing with their toys and argue as brothers and sisters do.
Jacob loves police cars, fire trucks, John Deere tractors and anything that makes loud noises. His mom shared that he will watch videos on YouTube of the vehicles. The youngster also enjoys watching Turtleman on television.
One of his favorite toys is a vacuum cleaner that can be “turned on” and makes sounds like a regular sweeper, going along with his enjoyment of loud, motorized things. And he has a hug that can melt your heart.
Vanessa is into Disney princesses, baby dolls, animals and nature, which is why she likes watching shows on the Animal Planet channel. She loves to draw, make bracelets and necklaces, and read and tends to be a little more introverted than her brother. She also has a smile that lights up the room.
Both children enjoy music, which sometimes is the only way to calm them, Barbara said. Both have their own Mp3 players and headphones.
“It’s chaotic,” Barbara said, describing their daily lives. “We have some good days. What most parents take for granted, we see as milestones and blessings.”
They are constantly finding out new things about Duplication Chromosome 14q32.33 and what it will do to their children. Some of the things they have to deal with of a different nature are the battles of reality versus fantasy and extreme panic attacks.
Both children have very vivid imaginations. For Vanessa, there is sometimes no reality, according to her mother, who explained, “pretend becomes reality” for the young girl. In many ways, Barbara said, aspects of the disease have begun to mirror schizophrenia and the older Vanessa gets, the more regressed she becomes from the real world.
“When we take her around strangers, we have to watch her, because she’ll tell things that, in her mind are real, but never really occurred,” she said.
While Jacob also could progress to that point, he has not shown such signs yet, beyond having a vivid imagination.
While many families fill the stores this time of year, the Jennings family tends to avoid such places at all costs because it sends the children, especially Vanessa, into a panic.
Seeing cars in the parking lot will sometimes send the young girl into panic. That requires the family to travel to a smaller, less crowded store. There are other triggers to the panic attacks, as well.
“If it’s hot or it’s humid, they can’t go outside, because they can’t breathe. Cloudy days … we don’t get to go out on those days,” Barbara said, explaining that Vanessa is extremely scared of storms.
“They hit it lucky, they did get to go see Santa because it wasn’t crowded,” Barbara said.
The stress is lessened by keeping the children in their comfort zones. When the family wants to travel, they have to take the children’s favorite things, to ease the change.
“Sometimes we have two or three suitcases for just their stuff,” Emby said.
The kids like to talk about getting to swim. Part of their disease causes them to have weak muscle tone. However, in the water, they don’t notice it as much and the water relaxes them.
Through their research online, the Jenningses have been able to connect to groups around the world. Even social media has helped the family, partnering them with hundreds of other families on Facebook who also are facing rare diseases.
“Without the support of other mothers who are going through the same thing, I would be going crazy,” Barbara said. “It takes living with that … it’s the bond that you form with other families that go through that.”
Many of their friends have sent Christmas cards to the children, another reminder, Barbara said, of last year’s motto from the Global Genes Project that “alone we’re rare, but together we’re strong.”
“I like that; it’s true,” she said.
Emby and Barbara have advice for other parents, reminding them to cherish each moment they have with their child, “because each day really is a blessing.” They also encourage parents to pay attention to what’s going on with their child, because sometimes it is a fight to get the answers.
“If you think something’s wrong or abnormal, push until somebody listens,” Barbara said.
SO YOU KNOW
The Global Genes Project can be found at www.globalgenes.org and has information about rare and genetic diseases. There are other ways to research the diseases, such as the National Institutes of Health’s National Center for Advancing Translational Sciences, found at www.ncats.nih.gov; and Unique: Understanding chromosome disorders, at www.rarechromo.org.