Aniah Preston is like most 12-year-old boys. He loves sports - especially football - likes hanging out with his friends, and isn’t overly fond of school. But unlike the other boys in his 6th grade class, Aniah’s days also consist of lots of medications, routine blood pressure checks, and frequent trips to a myriad of doctors, in an attempt to manage the rare disease he was born with.
It’s called Kearnes-Sayre Syndrome, and according to Aniah’s mom, Amy Kulhanek, less that 250 people worldwide have been diagnosed with the disorder.
Aniah’s pediatrician discovered he was sick during his 1-year well baby check. Amy says the doctor told her her baby’s white count, red count and platelet count were all bottomed out, and she needed to get him to Children’s Hospital immediately. Bright and early the next morning, Amy and her parents followed the doctors orders and had Aniah in Omaha.
Amy says a multitude of tests were ran on her little boy, with doctors at the time thinking he may have leukemia. A bone marrow biopsy was done, however, those tests came back negative. So they sent the baby home and told Amy to bring him back in six months. She did, they tested again - still negative. Unable to determine what was causing the baby to be so sick, the doctors at Children’s referred Amy and Aniah to the Mayo Clinic in Rochester, Minn.
Nervous and frightened, Amy boarded a plane with her baby and headed to Minnesota, where still more tests were performed. Still no diagnosis. Just as they were about to leave the hospital the doctor decided to do one more test.
“He said he didn’t think it could possible be that, but just to rule it out wanted to do the test anyway. When he came back in the room he had a very serious look on his face; he sat me down and told me my baby has Kearnes-Sayre syndrome. My immediate response was - what’s that?”
Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder, and is the result of abnormalities in the DNA. Amy says that every few years since Aniah’s diagnosis he has either developed a new symptom, or a present symptom has worsened. Recently he has begun experiencing problems with his kidneys, and is now on three different medications just for that.
The disease has made him deaf, and he now wears cochlear implants which allow him to hear pretty well. He also experiences pain in his eyes on occasion, and suffers from a condition which does not allow his body to sweat enough to cool him.
Trips to the doctor in Omaha are very uncomfortable for Aniah, as he deals with muscular pain if he sits in the same position for a long period. He can eat only small portions of food at a time, and eats several times throughout the day. He will tell you he’s always hungry!
With the disease being so rare many doctors don’t know for sure how to treat it. Amy says the doctors are learning from Aniah as they go.
She has also found support for herself through social media. A mother of a child with the disease in Ireland started a support group Facebook page, and Amy has become good friends with another mom in Canada who has a now 20-year-old son with the condition.
“They have been an amazing support system,” says Amy. “Just trying to keep up with all his doctors and medicines is about a full-time job!”
Seven years after Aniah’s diagnosis, Amy was hit with another blow. October 10, 2010, she was diagnosed with stage IIB breast cancer. She was 33-years-old with no family history of breast cancer. The news hit like a brick.
Amy was put through two different round of chemotherapy, one for six months and one for a year. She says one of those made her extremely ill. She also had radiation treatment, and a double mastectomy.
“I felt very guilty at the time because I wasn’t able to be there for my son physically and emotionally,” Amy says as she chokes back her emotion.
She has now been cancer free for three years, and though she says she tries not to think about it she is very frightened of the cancer returning.
“He got me through my cancer,” she says, as she grabs and hugs Aniah. “There were days when I was going through my chemo that I just wanted to lay down and die. But he got me through it. We have been each other’s support.”
Amy says her parents “stepped to the plate” when she was sick, moving her and Aniah in with them so they could care for the mother and son. She has also received a great deal of support from Aniah’s paternal grandparents, who live in Las Vegas.
Amy says even simple everyday activities need to be planned out in advance. There are medications to account for, food for Aniah, and occasional unexplained vomiting attacks from her son. But all that doesn’t seem to slow him down much.
Amy says she is grateful to live in a small town where many of the kids have known Aniah all his life. They understand his disease, and are pretty protective of him.
At the urging of friends and family, Amy recently applied with the Make-A-Wish Foundation for Aniah. Two weeks ago they were visited by two ladies; one sat down with Amy and filled out the paperwork, while the other visited with Aniah about what he would like for his wish.
“What did you tell her you wanted to do?”, I asked the spunky 12-year-old.
“My number one wish is to go hunting with the Duck Dynasty cast,” Aniah says with a smile, as he runs to the kitchen and grabs his hunter safety education patch and proudly shows it off.
“My number two wish is to practice with the Denver Broncos. Did I tell you I love football?”
Amy says they are waiting now to hear back on whether or not Aniah has been accepted for a wish.
In the meantime, she just does the best she can. The medicines, trips to doctors, batteries for Aniah’s cochlear implants which he goes through a lot of - all have put a heavy financial burden on the single mom. Yet she does her best to remain positive.
“Most days it’s a challenge. We go on with our lives . . . yeah, we just go on.”