Conquering ChiariPublished 7:10pm Saturday, January 19, 2013
An Albert Lea 3-year-old undergoes brain surgery for Arnold-Chiari malformation
By Colleen Thompson
Every parent’s worst nightmare is for his or her child to be overcome by a disease. Especially one that prohibits them from living the normal, carefree life of a child and knowing there’s nothing they can do about it. That scenario became real for Jennifer Mucha when her 3-year-old son was diagnosed with Arnold-Chiari malformation.
Mucha knew something was wrong from the very start. Her son, Josh, could never sleep throughout an entire night, couldn’t swallow properly and frequently choked on his food. Even more problems started after his first birthday. He had started speaking, but after he turned 1, his speech began regressing. He had a lot of rapid eye movement, which they later found out was early stages of epilepsy.
“He would have these drop attacks where he would just fall to the ground and cry out in pain,” Mucha said. “He couldn’t get up for 45 minutes.”
Mucha’s mother, Teresa Kirsch, remembers these incidents vividly.
“I remember him walking down the stairs and just falling to the ground and thinking ‘something’s wrong here,’” Kirsch said.
Taking Josh to the hospital didn’t prove to be very helpful at first. Some doctors told Mucha that Josh simply had behavioral abnormalities, while others claimed nothing was wrong with him.
One doctor advised that Josh should be put in Early Childhood Special Education at Brookside Education Center. Just before he turned 2 years old, he began working with ECSE teacher Tanya Herbst.
“He was a normal kid,” Mucha said. “But you could tell he knew he had limits.”
In July 2011, Josh’s brother, Javarus Mucha, had a baseball game that the family went to. Josh had one of his spells where he fell and was immobile for several minutes. A family friend caught the whole thing on videotape. Jennifer took another trip to the hospital in Albert Lea and showed the tape to Dr. Michael Eckstrom.
“Dr. Eckstrom was the first one to tell us that this problem had to do with neurology, not bones,” Mucha said.
The Muchas went to Mayo Clinic in Rochester and had an MRI taken of Josh’s head. It was Oct. 3, 2011, when the Muchas discovered that Josh had Arnold-Chiari malformation Type II, also known as ACM II.
“It came out of nowhere,” Mucha said of the shock of receiving the life-changing phone call. “The man was saying all these things about his condition, but all I heard was ‘something is wrong with your child.’”
ACM is a serious neurological disorder where the bottom part of the brain, the cerebellum, descends out of the skull and crowds the spinal cord, putting pressure on both the brain and spine, and disrupting the normal flow of cerebrospinal fluid. Symptoms include severe headaches, balance problems, visual disturbances, respiratory problems, sleep apnea, weakness or pain in arms and legs, and trouble swallowing or speaking. About every 1 in 1,000 people is affected by it, but many go undiagnosed. As of now, there is no cure for it, and it is unknown whether or not it’s preventable or genetically passed.
Mucha says that many times, when she and her son would visit a doctor other than their regular one, she would be the one that would have to explain what Chiari was.
“It was frustrating because there’s not a lot of information about it,” Mucha said. “Many doctors don’t even study it in school because it’s not a common illness.”
The idea of surgery was floated by some doctors and dismissed by others. Mucha started contacting a doctor in Chicago about possible surgery because Josh was still waking up in the middle of the night and screaming that his head hurt.
“We went through a lot of Tylenol and Ibuprofen,” Mucha said. “It was awful knowing that there was nothing I could do for him.”
On Feb. 5, 2012, Josh fell to the ground and had an unresponsive spell. Mucha called 911, and Josh was taken to St. Marys Hospital in Rochester. He had lost 10 pounds since his diagnosis. A swallow study showed that he was silently aspirating, which meant food, liquids and stomach contents were emptied into the lungs by mistake, but outward signs didn’t show, such as turning red and coughing.
“I remember receiving a call from the neurological department that said, ‘Your son will have brain surgery in nine days.’ That hit me hard,” Mucha said.
Feb. 26, 2012, will always be a dismal memory in Mucha’s mind. Josh underwent a posterior fossa decompression surgery, in which the bone at the back of his skull and spine was removed. The goals of the surgery were to control the symptoms, decrease compression of the spinal cord and brainstem and restore the normal flow of cerebrospinal fluid. The nurses told Mucha it was one of the most painful surgeries a child could go through.
Life after the surgery improved drastically for Josh. Although the six days in the hospital post-surgery and the following three weeks were long and painful, he slowly started getting better and stronger and gaining weight. He doesn’t have aspiration anymore and is only taking medication for his epilepsy-induced seizures. He has been working with Herbst at Brookside for almost two years.
“It’s great to know we’re moving forward, and every day we’re seeing progress,” Mucha said.
Josh is now 3 years old and can finally sleep through an entire night. His symptoms haven’t completely gone away since his surgery, though. He still has drop attacks and pain, but they are not nearly as frequent. The Muchas make a trip twice a month to Mayo Clinic in Rochester for appointments, check-ups and to consult with Josh’s main doctor, Dr. Gesina Keating.
“His life is better now that we actually have a name for what’s wrong with him,” Mucha said. “We’re aware and able to monitor it.”
Since his diagnosis, Josh has a lot of people supporting him every step of the way. Kicking Chiari for Kids is the name of Josh’s sponsorship team, and it consists of Mucha, Javarus Mucha, Teresa Kirsch, Maddy Kirsch, Kelly Kaasa and Heather (Carter) Maskrey. They form fundraisers to raise money for research toward finding a cure for Chiari and financial aid to those affected by it.
Mucha has also found support through her Facebook account. She met Heather (Carter) Maskrey, a former Albert Lea resident, through a mutual friend and discovered that both of them had young sons that had the same brain surgery.
“It was so nice to meet someone that had been through what I had,” Maskrey said.
Mucha is a part of the online Minnesota Chiari Support Group, too. She’s been linked to other men and women who are affected by ACM.
“I have friends from California and all over the United States who have Chiari or children affected by it,” Mucha said. “It’s nice to be able to share advice.”
Mucha has been able to learn from her experience and is able to advise other parents with doubts about their children’s health.
“Go with your gut instinct,” Mucha advises. “Don’t ever let a doctor tell you it’s nothing.”
The Mucha family resides in Albert Lea. Mucha and her mother try to make life as normal as possible for Josh and his two brothers, Javarus, 10, and Ra-Ra, 2. They are grateful for how far they’ve come and continue taking it one day at a time.
Although Chiari is not a well-known disease, there’s plenty of ways to donate to finding a cure. There will be a Conquer Chiari Walk Across America in Fridley in September, a tip night at Pizza Ranch, a fundraiser through Mary Kay and a Conquer Chiari $7 basket night from 4 to 7 p.m. April 27 at the Moose Lodge. Contact Heather (Carter) Maskrey at firstname.lastname@example.org or Jennifer Mucha at 507-319-1634 for more information or visit www.conquerchiari.org.