Clarkston lives with rare chromosome abnormality
- By JEN BUCCIARELLI
For Digital First Media
- Posted: Saturday, 07/13/13 08:33 am
Enjoying summer despite his health complications is Cameron Belcher, 12, of Clarkston. He has a chromosome abnormality termed Ring 14, or R14. His condition is so rare that only 60 cases nationwide have been documented and his is the only one in Michigan. (The Macomb Daily/DAVID N. POSAVETZ)
He adores the Grinch and has a favorite replica stuffed animal he carries with him. But nothing about Cameron Belcher of Clarkston resembles the Grinch’s personality.
He finds small moments to produce big smiles and is a happy kid headed to summer camp, even though his life is filled with health complications, according to his mother, Belinda.
Rewind 12 years.
Cameron was born with a rare chromosome abnormality termed Ring 14, or sometimes known by geneticists as R14.
His condition is so rare that only about 60 cases nationwide have been documented. Cameron, now 12, still holds as the only known Michigan resident with the condition.
“Our baby was the only documented case of Ring 14 in Michigan and still is today as far as we and Cameron’s doctor know,” said Belinda, who learned of Cameron’s condition through a pregnancy exam and blood work more than 12 years ago. Her unborn son’s condition was later confirmed through an amniocentesis (also known as an amniotic fluid test).
Ring 14 is usually not inherited, said Marsha Lanes, a genetic counselor at the National Organization for Rare Diseases. “The parents of an affected child typically have normal chromosomes, and (Ring 14) is thought to be due to spontaneous or ‘de novo’ errors early during the development of the embryo.”
Instead of having a healthy chromosome, which would take an X-like shape, Cameron’s chromosome number 14 forms a ring in his DNA.
This leads to the loss of genetic material and information, Lanes said.
From here, the genetic malformation ripples outward in the lives of those affected by it.
Some of the many symptoms include hypotonia or reduced muscle tone and strength, limited motor skills and learning disabilities, digestive problems, immune deficiencies and delayed development.
“Cameron went from crawling and starting to take steps to not being able to as much as hold his bottle by himself,” Belinda said. “He would advance and then go backward. He learned to walk around 20 months (old), had a setback and had to learn to walk again before the age of 3.”
But perhaps the biggest battle is the frequent threat of seizures.
It is the most common symptom associated with the chromosome abnormality and one that surfaces often for Cameron.
Since he was 10 months old, Cameron has endured epilepsy. At one time in his life, he was having nearly 70 seizures a day.
“There are several rare conditions associated with epilepsy,” said Russell Derry, director of education for the Epilepsy Foundation of Michigan. “It is the general term for many conditions that result in recurrent unprovoked seizures.”
Varying types of seizures, which are triggered by abnormal brain electricity, span from simple partial seizures to complex partial, myoclonic, drop, absence or petit mal to tonic clonic or grand mal seizures, according to the Epilepsy Foundation of Michigan.
Cameron weathers grand mal seizures most often.
Even though his seizures typically occur through the night, Belinda describes Cameron’s daytime grand mal seizure as what you might imagine when visualizing a seizure.
These last several minutes and can be characterized by a sudden fall, loss of consciousness, muscle jerks, pale complexion, possible vomiting and sometimes loss of bladder and bowel control.
“The daytime seizures are harder for some reason,” Belinda said, “(they) set off an uncontrollable jerking that can last up to 30 minutes, even with being medicated ...and are a 100 percent sign of more seizures to come that day.”
Because Ring 14 is so rare, the majority of current research and case studies focus on epilepsy treatment options, Derry said.
One of the most effective ways in curbing recurrent seizures is through Vagus Nerve Stimulation) implants, which Cameron has.
A VNS is implanted in the chest to deliver stimulation to the vagus nerve extending from the brain, to alter the course of a seizure or prevent seizures altogether.
“Before the VNS, Cameron was having 50 to 70 seizures a day with medication,” Belinda said. “Today, Cameron can have one to five seizures a night, but sometimes will go two to three nights without a seizure.”
While it may be a piece of nearly every day, epilepsy does not always take away from Cameron enjoying time with his family.
His father, Mike, and brother, Christopher, love catching some of the latest superhero films with Cameron.
“Another thing they love to do with Cameron is take him for a ride and stop by Taco Bell for cheesy potatoes,” Belinda said, “He can’t get enough.”
For fun this summer, Cameron will be attending Clarkston SCAMP, a five week summer day camp for children and young adults with special needs. SCAMP provides recreational and social opportunities under the supervision of highly trained staff. Then in the fall, Cameron will get a chance to meet other youngsters living with Ring 14 when he travels to Kentucky to enjoy the Center for Courageous Kids’ camp. The program is geared toward uniting children with disabilities and will host a weekend solely for those with Ring 14.
“So far, I think they have 12 kids signed up,” Belinda said of the Kentucky camp. “We’re looking forward to it.”
“Cameron has faced many challenges and roadblocks in his 12 years,” she said, “but he is a happy kid. He laughs and finds things funny that are simple and unnoticed to most people.”
For more information, visit www.EpilepsyMichigan.org or www.Ring14USA.org, www.ChromoDisorder.org, www.RareChromo.org, www.thecenterforcourageouskids.org/ and www.clarkstonscamp.com