Mother Dives into Research on Kearns-Sayre Syndrome for Affected Child
July 15, 2013
By KRIS WILLIAMS, Hub Regional Correspondent
BROKEN BOW — For nearly his entire life, 11-year-old Aniah Preston has been battling a disease that even his doctors don’t know much about.
At his 1-year-old checkup, doctors found that Aniah’s blood count had bottomed out. His red and white blood cells and platelet counts were so low he and his mom, Amy Kulhanek, were immediately sent to Children’s Hospital in Omaha and from there to the Mayo Clinic.
Test after test to find out what was wrong came back negative. Finally, a test for Kearns-Sayre syndrome proved positive.
Kearns-Sayre syndrome is a neuromuscular disorder caused by problems with genetic material in body cells. Specifically, it is due to defects in the DNA in mitochondria, the parts of cells that generate energy for the body to do its work. It starts before a person is age 20.
Kulhanek threw herself into research about the disease and found she had to educate her son’s doctors about it because most of them had never dealt with it. She found support from one other mother in Canada whose child has the same disease.
“It’s very rare,” she said. Because mitochondria are found in cells throughout the body, Kearns-Sayre Syndrome may affect many different organs and body systems.
Aniah’s symptoms include deafness, eye pain and eye sensitivity, unexplained vomiting, lack of energy and weakness, inability to sweat enough to cool himself, protein in the urine, kidneys that leak potassium and magnesium, and failure to thrive.
When she first learned of his disease, Kulhanek decided it was “either let him live his life or keep him in a bubble.”
She did keep him away from other kids and anyone who was sick. He didn’t play with another child until he was 2 years old. It saddens her to remember the confused look on his face the first time he saw another person who wasn’t an adult.
Aniah will start sixth grade in August in Broken Bow, and he weighs only 55 pounds and is just 4 feet 6 inches tall, which puts him on the 3rd percentile for weight and 5th percentile for height for other boys his age. He will be 12 in August.
Cochlear implants have made it possible for Aniah to hear, but when he takes the processor off his head, he is completely deaf. He is teaching himself to read lips.
“I’m like a pro at it,” he said.
Lack of energy has caused Aniah to miss most of this summer’s baseball season, and he spends a lot of time on the couch.
“I still play with my friends, but not like I used to,” he said.
Kulhanek said the kidney problems are the biggest issue. Those problems make up Renal Fanconi syndrome, which is a failure of the tubules in the kidney to re-absorb small molecules, causing increased urinary loss of electrolytes, minerals, glucose, amino acids and water. Those losses result in excessive urination and dehydration even with excessive fluid intake. Growth retardation is a result of the renal disease as well.
“He is on three medications just for his kidneys alone, and he has 12 doctors. If he gets sick, he knows an IV will make him feel better, and he asks for one,” she said. “I’ve realized just how serious this is, but Aniah doesn’t know the severity of his disease.”
Kulhanek said the disease is very progressive. Every couple years, doctors find Aniah has another symptom. Other problems the disease may bring include degeneration of the retina, paralysis of eye muscles and heart disease.
“Things can happen quickly,” Kulhanek said. That’s why she’s planning to take Aniah on the trip of a lifetime very soon. They don’t yet know where they are going, but his No. 1 choice is Atlantis Paradise Island resort in the Bahamas.
He also has a list of other places he’d like to visit such as Mexico, China, Texas and New York. His reason for choosing those places is mostly because he wants to eat the food there.
“I like to eat,” he said, adding that his mom’s fried garlic burgers are one of his favorites. “It’s like I non-stop eat those things and keep saying, ‘Mom, can you make me more?’”
Kulhanek just wishes food would stick to his bones.
Lunchtime and recess are Aniah’s favorite parts of the school day. He plans on eating even more when he’s a teenager and thinks his mom is going to need to buy a bigger refrigerator one of these days.
Aniah’s other favorite activities are football, basketball, soccer, video games, fishing and hunting.
“I’m really good at sneaking up on the turkeys, and I’m crazy about playing (the video game) Minecraft,” he said.
He said he wishes he was bigger and taller so he could be more active in sports.
“I just want to be able to hear, not to wear glasses, not have kidney problems and just be normal,” he said.
He loves spending time at Johnson Lake, and Kulhanek hopes someday to move him there forever.
Sign up for updates straight to your inbox.