Boy with chromosome abnormality showing improvement
By Heather Ruenz
SLN staff
Ryan Mayfield, 8, of Elkhorn, was born six weeks prematurely on Sept. 30, 2008, and immediately proved to be a fighter. He was sent home from the neonatal ICU after six weeks and was able to breath and sleep without oxygen or monitor by the age of five months, according to his mom, Robin McCabe.
Because Ryan wasn’t meeting the expected milestones that most babies do, blood work, scans and muscle tests were ordered but all came back normal, Robin said.
At the age of eight months, he was diagnosed with global development delays and began undergoing therapy. Ryan’s doctors recommended genetic testing but insurance would not cover the cost.
“In order for the insurance company to approve the test, Ryan would either have to be hospitalized or there would need to be other reasoning given by the doctor,” Robin explained.
Two years later, in 2010, an MRI revealed Ryan had a Chiari malformation, meaning part of his brain was extending down his spinal canal and causing hydrocephalus, or the buildup of fluid in his brain. Hospitalization and surgery was required and, therefore, the genetic testing was approved.
Following surgery, Ryan began having seizures and was placed on epileptic medications, which in turn caused an array of side effects including muscle weakness, decreased appetite, increased constipation and temper tantrums.
“Finally, in January 2011, when Ryan was 2 years old, we received the results from the microarray testing and were given an underlying diagnosis of an abnormality of chromosome 18 – mosaic,” Robin said.
She explained that, in simple terms, at four to six cells after conception, Ryan’s 18th chromosome was created differently than normal and once made, the abnormal chromosomes are duplicated.
“Parts of Ryan’s 18th chromosome are deleted, duplicated and inverted. Doctors told us we would find things out throughout his life, as they come up, as to how this affects him,” Robin said. She also said the doctor told them Ryan would write his own book as no one else has the exact same chromosome 18; others who have been diagnosed with chromosome 18 differences have their own variances.
“Doctors told us Ryan may never walk or talk… and that 40 years ago, those diagnosed with a chromosomal abnormality were institutionalized. I still can’t get over that one,” Robin said.
Moving forward
Therapy for Ryan continued and they connected with the Chromosome 18 Registry and Research Society in San Antonio, Texas, which has become a support network for the family.
When Ryan turned 3, he aged out of the birth-to-3 program and started school, even though he was still having seizures and used a walker.
“When medications leveled out, Ryan was learning how to do things better. After a series of seizures, his body was not always able to pick up right where it left off,” Robin said.
The following year, Ryan was riding the bus to school, which “made him so happy with his newfound freedom and confidence,” Robin said.
But the seizures were becoming more frequent and after a few hospitalizations that included monitoring, tests and scans, Ryan was diagnosed with Mesial Temporal Sclerosis, or scar tissue, in his left temporal lobe.
In December 2013, when Ryan was 5, he spent two weeks in the hospital where he underwent double brain surgery to remove his left temporal lobe.
“The recovery time was lengthy, but Ryan, as always, proved to be a fighter. He started back at school a month after surgery and we considered it a success,” Robin said.
Ryan had 10 good months without seizures, became more expressive verbally and physically with smiles and hugs, learned how to walk again and was eating better, Robin said.
But the seizures returned and appeared different than before. Tests confirmed Ryan was consistently having seizure activity in his brain, and they weren’t always visible to his family.
Attempting to control the seizures with medication led to Ryan losing weight, a common side effect due to a decrease in appetite. In January 2016, he was hospitalized for pneumonia followed by febrile seizures. A bezoar – a mass of indigestible material – was discovered in his stomach and was removed. Ryan was discharged with a nasogastric tube to help him gain weight and recently had a gastric tube placed.
Support humbling
“He’s doubled his weight and has grown so much since he has been getting the nutrition he’s needed. We started hearing his laugh and giggles for the first time in years,” Robin said.
Ryan still has seizures but seems to be responding to a strict, new diet specific to helping control them.
Robin said at one time she was able to maintain a full-time job and balance everything Ryan and the rest of the family had going on.
“The seizures and Ryan’s daily needs have been too much to handle for someone else to care for him… Ryan has the support, love and encouragement from his sister, two stepbrothers and his stepdad,” she said.
“The journey of Super Ryan has been the complete opposite from easy, but we have gotten through all of it with our faith,” she said.
Robin said she used to think that God only gives “us what we can handle but I read something that made a lot more sense to me: ‘God gives special needs children to regular everyday parents, who choose to step up and be strong for their child. That special child teaches you life lessons that you never could have anticipated, and throughout your journey together, you learn how to become the parent your child needs.’ Isn’t this true for all parents?” she shared.
Robin said being chosen for this year’s Kade’s Klassic “is humbling and we feel so very blessed as a family.”
How you can help and have some fun at the same time
Kade’s Klassic, a 501(c)(3) charity, was created in response to the kindness the community “showered on the Kade Vance family following a 2004 accident in which Kade was seriously injured,” a statement on the website reads. The annual fundraiser began with a golf outing, has helped a different family each year since the charity was started, and now includes the Sue Babcock Memorial 5K Walk/Run.
Kade’s Klassic for 2017 will be Sunday, June 25, and will kick off with the Sixth Annual Sue Babcock Memorial Run/Walk at Evergreen Golf Club, N6246 Hwy. 12, Elkhorn.
Registration for the run/walk will be from 6:45 to 7:15 a.m. and the event will begin at 7:30. The donation is $25 per person; there is no charge for babies in strollers.
The 18-hole golf event begins at 8 a.m. (registration 7 to 7:45) and the nine-hole event at 9 a.m. (registration 8 to 8:45.) The donation for 18 holes of golf is $90, for nine holes is $45 – and includes lunch (serving begins at 11 a.m.) and a cart.
The beanbag toss tournament will begin at approximately 10 a.m. with registration from 9:15 to 9:45. The donation is $25 per person. Teams of two will compete within a single elimination bracket. The winning team will win $100.
Special events on the course include: Beer for your Height event – those 21 years and older can attempt to be closest to the pin on the selected hole to win cases of beer as tall as the winner. Kunes Country Ford will sponsor a hole-in-one event. Other events and prizes will be awarded throughout the day.
Mini golf for kids 5 to 12 years old will be offered free from 10 to 11 a.m. (registration 9:30 to 9:50 a.m.) and will allow kids to win a variety of prizes. Maybe this could prove to be a good opportunity to hone their skills, and if the children do take to it, parents look at The Indoor Golf Shop and other online sites to get them the equipment needed for them in the future.
The deadline to register for the Kade’s Klassic is 9 a.m., Saturday. For more information or to register, call Pat Ehlen at (262) 903-1692 or visit kadesklassic.com and click on “events.”
